#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
GSAP	54103	broad.mit.edu	37	7	76982299	76982299	+	Missense_Mutation	SNP	T	T	G			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr7:76982299T>G	ENST00000257626.7	-	18	1531	c.1453A>C	c.(1453-1455)Aaa>Caa	p.K485Q		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	485					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										GGCAATAGTTTGTCCATGTTA	0.363																																						ENST00000257626.7																			0											c.(1453-1455)Aaa>Caa		gamma-secretase activating protein							233.0	201.0	212.0					7																	76982299		2203	4300	6503	SO:0001583	missense	54103							g.chr7:76982299T>G		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1453A>C	7.37:g.76982299T>G	ENSP00000257626:p.Lys485Gln						p.K485Q	NM_017439.3	NP_059135.2					18	1531	-								A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.1453A>C	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101209	0.37048	.	.	ENSG00000186088	ENST00000257626	T	0.22743	1.94	6.06	0.555	0.17247	.	0.168849	0.37809	U	0.001925	T	0.14657	0.0354	L	0.35723	1.085	0.09310	N	0.999999	B;B	0.23806	0.091;0.041	B;B	0.23574	0.047;0.019	T	0.17930	-1.0353	10	0.49607	T	0.09	.	7.8704	0.29563	0.0:0.0715:0.401:0.5275	.	485;485	A4D1B5-3;A4D1B5	.;GSAP_HUMAN	Q	485	ENSP00000257626:K485Q	ENSP00000257626:K485Q	K	-	1	0	PION	76820235	0.402000	0.25311	0.001000	0.08648	0.987000	0.75469	0.608000	0.24223	0.134000	0.18681	0.533000	0.62120	AAA		0.363	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		6	271	0	0	0	1	0	6	271				
HYOU1	10525	broad.mit.edu	37	11	118919563	118919563	+	Silent	SNP	G	G	A	rs375091924		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:118919563G>A	ENST00000404233.3	-	18	2152	c.2028C>T	c.(2026-2028)ggC>ggT	p.G676G	HYOU1_ENST00000529972.1_Silent_p.G614G|HYOU1_ENST00000525859.1_Silent_p.G614G|HYOU1_ENST00000543287.1_3'UTR	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	676					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|response to ischemia (GO:0002931)|response to stress (GO:0006950)	endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		CTGGAGCGACGCCCTCAGGCC	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17398	0.0		0.0	False		,,,				2504	0.0					ENST00000404233.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33						c.(2026-2028)ggC>ggT		hypoxia up-regulated 1							60.0	62.0	61.0					11																	118919563		2200	4295	6495	SO:0001819	synonymous_variant	10525					endoplasmic reticulum lumen	ATP binding|protein binding	g.chr11:118919563G>A	U65785	CCDS8408.1	11q23.1-q23.3	2011-09-02			ENSG00000149428	ENSG00000149428		"""Heat shock proteins / HSP70"""	16931	protein-coding gene	gene with protein product	"""glucose-regulated protein 170"""	601746				9020069, 10037731	Standard	XM_005271390		Approved	ORP150, HSP12A, Grp170	uc001pux.3	Q9Y4L1	OTTHUMG00000166354	ENST00000404233.3:c.2028C>T	11.37:g.118919563G>A						HYOU1_ENST00000525859.1_Silent_p.G614G|HYOU1_ENST00000529972.1_Silent_p.G614G|HYOU1_ENST00000543287.1_3'UTR	p.G676G	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)	18	2152	-	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)	676					A8C1Z0|B7Z909|Q2I204|Q53H25	Silent	SNP	ENST00000404233.3	37	c.2028C>T	CCDS8408.1																																																																																				0.612	HYOU1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389353.1	NM_006389		23	50	0	0	0	1	0	23	50				
COL19A1	1310	broad.mit.edu	37	6	70637824	70637824	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:70637824C>A	ENST00000322773.4	+	5	392	c.290C>A	c.(289-291)cCt>cAt	p.P97H		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	97	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AAAGGCCTTCCTGAGGAGTAC	0.418																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(289-291)cCt>cAt		collagen, type XIX, alpha 1							127.0	127.0	127.0					6																	70637824		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70637824C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.290C>A	6.37:g.70637824C>A	ENSP00000316030:p.Pro97His						p.P97H	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			5	392	+			97			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.290C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.401978	0.25291	.	.	ENSG00000082293	ENST00000322773	T	0.32272	1.46	5.71	3.85	0.44370	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.24851	0.0603	M	0.81112	2.525	0.80722	D	1	B	0.21905	0.062	B	0.18871	0.023	T	0.31024	-0.9958	10	0.87932	D	0	.	15.0287	0.71691	0.2588:0.7412:0.0:0.0	.	97	Q14993	COJA1_HUMAN	H	97	ENSP00000316030:P97H	ENSP00000316030:P97H	P	+	2	0	COL19A1	70694545	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	7.295000	0.78780	1.387000	0.46486	0.655000	0.94253	CCT		0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			5	73	1	0	1	1	1	5	73				
VGLL2	245806	broad.mit.edu	37	6	117586987	117586987	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:117586987G>A	ENST00000326274.5	+	1	251	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	VGLL2_ENST00000352536.3_Missense_Mutation_p.A21T	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial-like family member 2	21					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.A21S(1)		central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CTTCGCAGCCGCCTACACCCC	0.582																																						ENST00000326274.5																			1	Substitution - Missense(1)	p.A21S(1)	lung(1)	central_nervous_system(1)|kidney(1)|lung(3)	5						c.(61-63)Gcc>Acc		vestigial like 2 (Drosophila)							106.0	84.0	92.0					6																	117586987		2203	4300	6503	SO:0001583	missense	245806				transcription, DNA-dependent	nucleus		g.chr6:117586987G>A	AY056583	CCDS5114.1, CCDS5115.1	6q22.31	2014-03-03	2014-03-03		ENSG00000170162	ENSG00000170162			20232	protein-coding gene	gene with protein product		609979	"""vestigial like 2 (Drosophila)"""			12376544	Standard	NM_153453		Approved		uc003pxn.3	Q8N8G2	OTTHUMG00000015451	ENST00000326274.5:c.61G>A	6.37:g.117586987G>A	ENSP00000320957:p.Ala21Thr					VGLL2_ENST00000352536.3_Missense_Mutation_p.A21T	p.A21T	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN		GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)	1	251	+			21					Q8WWX1	Missense_Mutation	SNP	ENST00000326274.5	37	c.61G>A	CCDS5115.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918902	0.92249	.	.	ENSG00000170162	ENST00000352536;ENST00000326274	T	0.51325	0.71	5.17	4.29	0.51040	.	0.145914	0.45126	D	0.000383	T	0.28995	0.0720	L	0.27053	0.805	0.46336	D	0.998995	D;D	0.67145	0.994;0.996	P;P	0.48454	0.546;0.578	T	0.09862	-1.0655	10	0.51188	T	0.08	-1.5298	13.5242	0.61584	0.0757:0.0:0.9243:0.0	.	21;21	Q8N8G2-2;Q8N8G2	.;VGLL2_HUMAN	T	21	ENSP00000320957:A21T	ENSP00000320957:A21T	A	+	1	0	VGLL2	117693680	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.808000	0.55598	1.175000	0.42826	0.563000	0.77884	GCC		0.582	VGLL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041975.2	NM_153453		5	18	0	0	0	1	0	5	18				
KIAA2026	158358	broad.mit.edu	37	9	5921341	5921341	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr9:5921341G>A	ENST00000399933.3	-	8	4654	c.4655C>T	c.(4654-4656)cCg>cTg	p.P1552L	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1522L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1552										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CACTGTAGACGGAATCAGTAC	0.383																																						ENST00000399933.3																			0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(4654-4656)cCg>cTg		KIAA2026							223.0	210.0	214.0					9																	5921341		1885	4112	5997	SO:0001583	missense	158358							g.chr9:5921341G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4655C>T	9.37:g.5921341G>A	ENSP00000382815:p.Pro1552Leu					KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1522L	p.P1552L	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	4654	-		Acute lymphoblastic leukemia(23;0.158)	1552					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.4655C>T		.	.	.	.	.	.	.	.	.	.	G	16.00	2.998195	0.54147	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000006	T	0.68302	0.2986	L	0.34521	1.04	0.51233	D	0.999911	D	0.89917	1.0	D	0.87578	0.998	T	0.71224	-0.4656	9	0.66056	D	0.02	-11.1091	18.4673	0.90760	0.0:0.0:1.0:0.0	.	1552	Q5HYC2	K2026_HUMAN	L	1552;1522	.	ENSP00000370870:P1522L	P	-	2	0	KIAA2026	5911341	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.944000	0.75940	2.605000	0.88082	0.484000	0.47621	CCG		0.383	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		61	91	0	0	0	1	0	61	91				
SIGLEC8	27181	broad.mit.edu	37	19	51955819	51955819	+	Silent	SNP	C	C	T	rs200706657		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:51955819C>T	ENST00000321424.3	-	7	1380	c.1314G>A	c.(1312-1314)tcG>tcA	p.S438S	SIGLEC8_ENST00000340550.5_Silent_p.S345S|SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000430817.1_Silent_p.S329S	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	438					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTCCCCTGACGAGGGGGCAA	0.577																																						ENST00000321424.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(1312-1314)tcG>tcA		sialic acid binding Ig-like lectin 8							45.0	46.0	46.0					19																	51955819		2203	4300	6503	SO:0001819	synonymous_variant	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51955819C>T	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1314G>A	19.37:g.51955819C>T						SIGLEC8_ENST00000340550.5_Silent_p.S345S|SIGLEC8_ENST00000430817.1_Silent_p.S329S	p.S438S	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	7	1380	-		all_neural(266;0.0199)	438					Q7Z728	Silent	SNP	ENST00000321424.3	37	c.1314G>A	CCDS33086.1																																																																																				0.577	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		17	28	0	0	0	1	0	17	28				
TOX4	9878	broad.mit.edu	37	14	21961062	21961062	+	Silent	SNP	T	T	A	rs571846793		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr14:21961062T>A	ENST00000405508.1	+	8	1563	c.1287T>A	c.(1285-1287)gcT>gcA	p.A429A	TOX4_ENST00000262709.3_Silent_p.A429A|TOX4_ENST00000448790.2_Silent_p.A406A			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	429	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		CAGCAGCAGCTGCTGCTGCTG	0.582													T|||	1	0.000199681	0.0	0.0014	5008	,	,		14814	0.0		0.0	False		,,,				2504	0.0					ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)gcT>gcA		TOX high mobility group box family member 4							63.0	73.0	70.0					14																	21961062		2201	4298	6499	SO:0001819	synonymous_variant	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961062T>A	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1287T>A	14.37:g.21961062T>A						TOX4_ENST00000262709.3_Silent_p.A429A|TOX4_ENST00000448790.2_Silent_p.A406A	p.A429A			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1563	+	all_cancers(95;0.000465)		429			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	Silent	SNP	ENST00000405508.1	37	c.1287T>A	CCDS32043.1																																																																																				0.582	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		4	104	0	0	0	1	0	4	104				
DAPK2	23604	broad.mit.edu	37	15	64275809	64275809	+	Silent	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr15:64275809C>T	ENST00000457488.1	-	3	267	c.237G>A	c.(235-237)cgG>cgA	p.R79R	DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Silent_p.R79R|DAPK2_ENST00000261891.3_Silent_p.R79R	NM_014326.3	NP_055141.2	Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		GCAGCACCTGCCGCAGGATGC	0.632																																						ENST00000261891.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11						c.(235-237)cgG>cgA		death-associated protein kinase 2							73.0	70.0	71.0					15																	64275809		2203	4300	6503	SO:0001819	synonymous_variant	23604				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding	g.chr15:64275809C>T	AB018001	CCDS10188.1	15q22.1	2008-07-18			ENSG00000035664	ENSG00000035664			2675	protein-coding gene	gene with protein product						10376525	Standard	XM_005254265		Approved	DRP-1, MGC119312	uc002amr.3	Q9UIK4	OTTHUMG00000132947	ENST00000457488.1:c.237G>A	15.37:g.64275809C>T						DAPK2_ENST00000558482.1_5'UTR|DAPK2_ENST00000558069.1_Silent_p.R79R|DAPK2_ENST00000457488.1_Silent_p.R79R	p.R79R			Q9UIK4	DAPK2_HUMAN		LUAD - Lung adenocarcinoma(2;0.215)	2	242	-			79			Protein kinase.		E9JGM7|O75892|Q24JS1	Silent	SNP	ENST00000457488.1	37	c.237G>A	CCDS10188.1																																																																																				0.632	DAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256479.1	NM_014326		3	37	0	0	0	1	0	3	37				
TYW1B	441250	broad.mit.edu	37	7	72298681	72298681	+	RNA	SNP	G	G	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr7:72298681G>T	ENST00000435769.2	-	0	96				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										AGGAGACTAGGATCTCGGACC	0.632																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							58.0	65.0	63.0					7																	72298681		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72298681G>T	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72298681G>T										Q6NUM6	TYW1B_HUMAN			0	72	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.632	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		5	25	1	0	0.000274275	1	0.000307723	5	25				
ITK	3702	broad.mit.edu	37	5	156638349	156638349	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr5:156638349C>T	ENST00000422843.3	+	3	447	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	99	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	TCGTGAGAGCCGGCAGCGCTG	0.493			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)	ENST00000422843.3				Dom	yes		5	5q31-q32	3702	T	IL2-inducible T-cell kinase			L	SYK		peripheral T-cell lymphoma		0				breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(295-297)Cgg>Tgg		IL2-inducible T-cell kinase							118.0	110.0	113.0					5																	156638349		2203	4300	6503	SO:0001583	missense	3702				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr5:156638349C>T	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.295C>T	5.37:g.156638349C>T	ENSP00000398655:p.Arg99Trp					CTB-4E7.1_ENST00000519375.1_RNA	p.R99W	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	447	+	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	99			PH.		B2R752|Q32ML7	Missense_Mutation	SNP	ENST00000422843.3	37	c.295C>T	CCDS4336.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077806	0.76528	.	.	ENSG00000113263	ENST00000422843	T	0.78246	-1.16	5.8	4.03	0.46877	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	M	0.92077	3.27	0.53688	D	0.999978	D	0.89917	1.0	D	0.74674	0.984	D	0.88754	0.3252	10	0.87932	D	0	.	8.6618	0.34097	0.2751:0.654:0.0:0.0709	.	99	Q08881	ITK_HUMAN	W	99	ENSP00000398655:R99W	ENSP00000398655:R99W	R	+	1	2	ITK	156570927	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.335000	0.33839	0.791000	0.33826	-0.122000	0.15005	CGG		0.493	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252569.2			13	35	0	0	0	1	0	13	35				
MUC5B	727897	broad.mit.edu	37	11	1271887	1271887	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:1271887G>A	ENST00000529681.1	+	31	13835	c.13777G>A	c.(13777-13779)Gtg>Atg	p.V4593M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V4596M	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4593	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACTACCAAAGTGCCGACTAC	0.657																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(13786-13788)Gtg>Atg		mucin 5B, oligomeric mucus/gel-forming							55.0	79.0	72.0					11																	1271887		1986	4149	6135	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1271887G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13777G>A	11.37:g.1271887G>A	ENSP00000436812:p.Val4593Met					MUC5B_ENST00000529681.1_Missense_Mutation_p.V4593M	p.V4596M			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	13844	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	4593			23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.13786G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	2.427	-0.331699	0.05314	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19105	2.17;2.36	1.56	0.564	0.17302	.	.	.	.	.	T	0.14485	0.0350	L	0.29908	0.895	0.09310	N	1	D;D	0.54964	0.969;0.969	B;B	0.43809	0.432;0.432	T	0.15607	-1.0431	9	0.87932	D	0	.	4.1399	0.10188	0.2393:0.0:0.7607:0.0	.	5066;4596	A7Y9J9;E9PBJ0	.;.	M	4593;4596;4537;4443	ENSP00000436812:V4593M;ENSP00000415793:V4596M	ENSP00000343037:V4537M	V	+	1	0	MUC5B	1228463	0.001000	0.12720	0.001000	0.08648	0.064000	0.16182	0.160000	0.16462	0.009000	0.14813	0.184000	0.17185	GTG		0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		11	64	0	0	0	1	0	11	64				
SYNE1	23345	broad.mit.edu	37	6	152688489	152688489	+	Missense_Mutation	SNP	A	A	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:152688489A>T	ENST00000367255.5	-	62	10437	c.9836T>A	c.(9835-9837)gTt>gAt	p.V3279D	SYNE1_ENST00000448038.1_Missense_Mutation_p.V3286D|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3318D|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3279D|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3286D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3279					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTTCTGCAACGATTCTATC	0.443										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(9835-9837)gTt>gAt		spectrin repeat containing, nuclear envelope 1							172.0	151.0	158.0					6																	152688489		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152688489A>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9836T>A	6.37:g.152688489A>T	ENSP00000356224:p.Val3279Asp	HNSCC(10;0.0054)				SYNE1_ENST00000448038.1_Missense_Mutation_p.V3286D|SYNE1_ENST00000265368.4_Missense_Mutation_p.V3279D|SYNE1_ENST00000341594.5_Missense_Mutation_p.V3318D|SYNE1_ENST00000423061.1_Missense_Mutation_p.V3286D	p.V3279D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	62	10437	-		Ovarian(120;0.0955)	3279					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9836T>A	CCDS5236.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.5|21.5	4.157624|4.157624	0.78114|0.78114	.|.	.|.	ENSG00000131018|ENSG00000131018	ENST00000454018|ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	.|T;T;T;T;T	.|0.59638	.|1.27;0.26;1.27;0.25;0.67	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.232991	.|0.30043	.|N	.|0.010547	T|T	0.69124|0.69124	0.3076|0.3076	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.71674	.|0.995;0.996;0.995;0.998	.|P;D;P;D	.|0.65323	.|0.83;0.934;0.83;0.918	T|T	0.73014|0.73014	-0.4116|-0.4116	5|10	.|0.72032	.|D	.|0.01	.|.	16.8222|16.8222	0.85835|0.85835	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3279;396;3279;3286	.|Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4	.|SYNE1_HUMAN;.;.;.	M|D	396|3279;3286;3279;3286;3318	.|ENSP00000356224:V3279D;ENSP00000396024:V3286D;ENSP00000265368:V3279D;ENSP00000390975:V3286D;ENSP00000341887:V3318D	.|ENSP00000265368:V3279D	L|V	-|-	1|2	2|0	SYNE1|SYNE1	152730182|152730182	1.000000|1.000000	0.71417|0.71417	0.072000|0.072000	0.20136|0.20136	0.939000|0.939000	0.58152|0.58152	7.161000|7.161000	0.77505|0.77505	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTG|GTT		0.443	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		22	82	0	0	0	1	0	22	82				
TRIM51	84767	broad.mit.edu	37	11	55659088	55659088	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:55659088T>A	ENST00000449290.2	+	7	1431	c.1339T>A	c.(1339-1341)Ttt>Att	p.F447I	TRIM51_ENST00000244891.3_Missense_Mutation_p.F304I	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	447	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)										CAGGCCTATCTTTTGCTGTAG	0.458																																						ENST00000449290.2																			0											c.(1339-1341)Ttt>Att		tripartite motif-containing 51							108.0	115.0	113.0					11																	55659088		2143	4127	6270	SO:0001583	missense	84767					intracellular	zinc ion binding	g.chr11:55659088T>A	BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.1339T>A	11.37:g.55659088T>A	ENSP00000395086:p.Phe447Ile					TRIM51_ENST00000244891.3_Missense_Mutation_p.F304I	p.F447I	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN			7	1431	+			447			B30.2/SPRY.		A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37	c.1339T>A		.	.	.	.	.	.	.	.	.	.	.	15.31	2.796072	0.50208	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.78003	-1.14;-1.14	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.75968	0.3922	M	0.85373	2.75	0.09310	N	1	B	0.15473	0.013	B	0.19666	0.026	T	0.65429	-0.6170	9	0.38643	T	0.18	.	5.1325	0.14917	0.0:0.0:0.0:1.0	.	447	Q9BSJ1	SPRY5_HUMAN	I	447;304	ENSP00000395086:F447I;ENSP00000244891:F304I	ENSP00000244891:F304I	F	+	1	0	SPRYD5	55415664	0.427000	0.25514	0.013000	0.15412	0.507000	0.33981	2.535000	0.45685	0.540000	0.28808	0.136000	0.15936	TTT		0.458	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681		23	99	0	0	0	1	0	23	99				
AHNAK	79026	broad.mit.edu	37	11	62288998	62288998	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:62288998T>A	ENST00000378024.4	-	5	13165	c.12891A>T	c.(12889-12891)aaA>aaT	p.K4297N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4297					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGATGTCCACTTTGGGGCCCT	0.512																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(12889-12891)aaA>aaT		AHNAK nucleoprotein							169.0	171.0	170.0					11																	62288998		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288998T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.12891A>T	11.37:g.62288998T>A	ENSP00000367263:p.Lys4297Asn					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K4297N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	13165	-		Melanoma(852;0.155)	4297					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.12891A>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	t	10.62	1.400507	0.25291	.	.	ENSG00000124942	ENST00000378024	T	0.26957	1.7	5.03	3.89	0.44902	.	0.000000	0.43747	D	0.000535	T	0.36138	0.0956	M	0.74546	2.27	0.32548	N	0.532762	D	0.56287	0.975	P	0.51516	0.672	T	0.51260	-0.8728	10	0.45353	T	0.12	.	7.5503	0.27793	0.0:0.2421:0.0:0.7579	.	4297	Q09666	AHNK_HUMAN	N	4297	ENSP00000367263:K4297N	ENSP00000367263:K4297N	K	-	3	2	AHNAK	62045574	0.000000	0.05858	0.999000	0.59377	0.088000	0.18126	-0.870000	0.04228	0.760000	0.33108	0.519000	0.50382	AAA		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		118	217	0	0	0	1	0	118	217				
CNDP1	84735	broad.mit.edu	37	18	72245549	72245549	+	Missense_Mutation	SNP	C	C	T	rs536184259		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr18:72245549C>T	ENST00000358821.3	+	9	1382	c.1154C>T	c.(1153-1155)gCg>gTg	p.A385V	CNDP1_ENST00000582365.1_Missense_Mutation_p.A342V	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	385						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		AATGTGTCTGCGGTGGAAAAA	0.443													T|||	1	0.000199681	0.0008	0.0	5008	,	,		21395	0.0		0.0	False		,,,				2504	0.0				Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1024-1026)gCg>gTg		carnosine dipeptidase 1 (metallopeptidase M20 family)							128.0	120.0	123.0					18																	72245549		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72245549C>T		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.1154C>T	18.37:g.72245549C>T	ENSP00000351682:p.Ala385Val					CNDP1_ENST00000358821.3_Missense_Mutation_p.A385V	p.A342V			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	8	1091	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	385					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.1025C>T	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	T	6.471	0.455071	0.12283	.	.	ENSG00000150656	ENST00000358821	T	0.59224	0.28	5.64	3.29	0.37713	Peptidase M20, dimerisation (1);	0.497997	0.22945	N	0.053740	T	0.20981	0.0505	N	0.00661	-1.28	0.19575	N	0.999966	B	0.06786	0.001	B	0.01281	0.0	T	0.17961	-1.0352	10	0.28530	T	0.3	-15.8861	4.5694	0.12202	0.1613:0.2205:0.0:0.6182	.	385	Q96KN2	CNDP1_HUMAN	V	385	ENSP00000351682:A385V	ENSP00000351682:A385V	A	+	2	0	CNDP1	70396529	0.917000	0.31117	0.517000	0.27799	0.189000	0.23516	0.933000	0.28897	0.113000	0.18004	-0.269000	0.10298	GCG		0.443	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		34	67	0	0	0	1	0	34	67				
TRDN	10345	broad.mit.edu	37	6	123687296	123687296	+	Silent	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:123687296C>T	ENST00000398178.3	-	20	1326	c.1305G>A	c.(1303-1305)gcG>gcA	p.A435A	TRDN_ENST00000334268.4_Silent_p.A435A	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	435					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TAATTGAAACCGCACCAATCT	0.323																																						ENST00000334268.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(1303-1305)gcG>gcA		triadin							97.0	91.0	93.0					6																	123687296		1806	4081	5887	SO:0001819	synonymous_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123687296C>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1305G>A	6.37:g.123687296C>T						TRDN_ENST00000398178.3_Silent_p.A435A	p.A435A			Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	20	1622	-			435					A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	c.1305G>A	CCDS55053.1																																																																																				0.323	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				4	8	0	0	0	1	0	4	8				
GON4L	54856	broad.mit.edu	37	1	155735541	155735541	+	Silent	SNP	G	G	C			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:155735541G>C	ENST00000368331.1	-	21	3771	c.3723C>G	c.(3721-3723)gcC>gcG	p.A1241A	GON4L_ENST00000361040.5_Silent_p.A1241A|GON4L_ENST00000437809.1_Silent_p.A1241A|GON4L_ENST00000271883.5_Silent_p.A1241A|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1241					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCCCTGAAAGGCATTTTCCC	0.502																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(3721-3723)gcC>gcG		gon-4-like (C. elegans)							75.0	77.0	76.0					1																	155735541		2203	4298	6501	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155735541G>C	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.3723C>G	1.37:g.155735541G>C						GON4L_ENST00000368331.1_Silent_p.A1241A|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Silent_p.A1241A|GON4L_ENST00000361040.5_Silent_p.A1241A	p.A1241A			Q3T8J9	GON4L_HUMAN			21	3845	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		1241					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.3723C>G																																																																																					0.502	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		13	56	0	0	0	1	0	13	56				
CTNNA3	29119	broad.mit.edu	37	10	68940103	68940103	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr10:68940103T>A	ENST00000433211.2	-	7	1193	c.1019A>T	c.(1018-1020)cAg>cTg	p.Q340L	CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q340L|CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q340L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AAGCAGATCCTGAAGAGCCTG	0.498																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1018-1020)cAg>cTg		catenin (cadherin-associated protein), alpha 3							114.0	100.0	105.0					10																	68940103		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68940103T>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1019A>T	10.37:g.68940103T>A	ENSP00000389714:p.Gln340Leu					CTNNA3_ENST00000545309.1_Missense_Mutation_p.Q340L|CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q340L|CTNNA3_ENST00000494580.1_5'UTR	p.Q340L	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			7	1193	-			340						Missense_Mutation	SNP	ENST00000433211.2	37	c.1019A>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	T	32	5.137543	0.94517	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.39997	1.05;1.05;1.2	5.71	5.71	0.89125	.	0.000000	0.48286	D	0.000185	T	0.70945	0.3282	M	0.89601	3.045	0.58432	D	0.999994	D;D;D;D	0.76494	0.997;0.997;0.999;0.985	D;D;D;D	0.83275	0.994;0.994;0.996;0.982	T	0.77920	-0.2407	10	0.87932	D	0	-10.2388	14.9651	0.71184	0.0:0.0:0.0:1.0	.	340;340;340;340	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	L	340	ENSP00000389714:Q340L;ENSP00000362849:Q340L;ENSP00000441444:Q340L	ENSP00000362849:Q340L	Q	-	2	0	CTNNA3	68610109	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.166000	0.68216	0.477000	0.44152	CAG		0.498	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		6	52	0	0	0	1	0	6	52				
PCDH10	57575	broad.mit.edu	37	4	134084164	134084164	+	Missense_Mutation	SNP	T	T	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr4:134084164T>A	ENST00000264360.5	+	4	3656	c.2830T>A	c.(2830-2832)Tgt>Agt	p.C944S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	944					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACTGAGGAATGTAAAGCTCT	0.478																																						ENST00000264360.4																			0				NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136						c.(2830-2832)Tgt>Agt		protocadherin 10							175.0	147.0	156.0					4																	134084164		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084164T>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2830T>A	4.37:g.134084164T>A	ENSP00000264360:p.Cys944Ser						p.C944S	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3656	+			944					Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2830T>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	T	7.644	0.681533	0.14907	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.70282	-0.47	4.94	4.94	0.65067	.	0.000000	0.39615	N	0.001306	T	0.78898	0.4356	L	0.52126	1.63	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.76358	-0.2988	10	0.30078	T	0.28	.	14.716	0.69269	0.0:0.0:0.0:1.0	.	944	Q9P2E7	PCD10_HUMAN	S	944	ENSP00000264360:C944S	ENSP00000264360:C944S	C	+	1	0	PCDH10	134303614	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.482000	0.81143	2.194000	0.70268	0.528000	0.53228	TGT		0.478	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		11	58	0	0	0	1	0	11	58				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			3	52	0	0	0	1	0	3	52				
ALG8	79053	broad.mit.edu	37	11	77815429	77815429	+	Missense_Mutation	SNP	G	G	C			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:77815429G>C	ENST00000299626.5	-	11	1320	c.1249C>G	c.(1249-1251)Ctc>Gtc	p.L417V	ALG8_ENST00000532552.2_5'UTR|ALG8_ENST00000376156.3_Missense_Mutation_p.L417V	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	417					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			AGAGGAAAGAGGGAATAATGT	0.378																																						ENST00000376156.3																			0				NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30						c.(1249-1251)Ctc>Gtc		ALG8, alpha-1,3-glucosyltransferase							67.0	69.0	68.0					11																	77815429		2200	4291	6491	SO:0001583	missense	79053				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	g.chr11:77815429G>C	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1249C>G	11.37:g.77815429G>C	ENSP00000299626:p.Leu417Val					ALG8_ENST00000532552.2_5'UTR|ALG8_ENST00000299626.5_Missense_Mutation_p.L417V	p.L417V	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)		11	1252	-	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		417					A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	c.1249C>G	CCDS8258.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882450	0.72294	.	.	ENSG00000159063	ENST00000299626;ENST00000526849;ENST00000376156	D;D;D	0.88431	-2.38;-2.38;-2.38	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.94938	0.8363	M	0.86502	2.82	0.80722	D	1	P;P;P	0.48589	0.624;0.912;0.815	P;P;P	0.62014	0.461;0.897;0.71	D	0.95406	0.8494	10	0.66056	D	0.02	-12.6458	18.8103	0.92056	0.0:0.0:1.0:0.0	.	417;417;417	B3KQL8;Q9BVK2;A6NDW6	.;ALG8_HUMAN;.	V	417;88;417	ENSP00000299626:L417V;ENSP00000434388:L88V;ENSP00000365326:L417V	ENSP00000299626:L417V	L	-	1	0	ALG8	77493077	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.631000	0.74277	2.507000	0.84556	0.655000	0.94253	CTC		0.378	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1	NM_024079		3	7	0	0	0	1	0	3	7				
DNAH3	55567	broad.mit.edu	37	16	20976630	20976630	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr16:20976630A>G	ENST00000261383.3	-	53	8575	c.8576T>C	c.(8575-8577)aTc>aCc	p.I2859T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2859	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTTTCCCGGATCCGCTTCAT	0.493																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(8575-8577)aTc>aCc		dynein, axonemal, heavy chain 3							91.0	90.0	90.0					16																	20976630		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20976630A>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8576T>C	16.37:g.20976630A>G	ENSP00000261383:p.Ile2859Thr					DNAH3_ENST00000415178.1_3'UTR	p.I2859T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	8575	-			2859			Stalk (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.8576T>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.744201	0.69418	.	.	ENSG00000158486	ENST00000261383	T	0.77877	-1.13	5.76	5.76	0.90799	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.91935	0.7446	H	0.96142	3.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94262	0.7503	10	0.72032	D	0.01	.	16.0816	0.81007	1.0:0.0:0.0:0.0	.	2859	Q8TD57	DYH3_HUMAN	T	2859	ENSP00000261383:I2859T	ENSP00000261383:I2859T	I	-	2	0	DNAH3	20884131	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.310000	0.96267	2.211000	0.71520	0.454000	0.30748	ATC		0.493	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		39	90	0	0	0	1	0	39	90				
KLHL26	55295	broad.mit.edu	37	19	18775073	18775073	+	Missense_Mutation	SNP	C	C	T	rs528604281		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:18775073C>T	ENST00000300976.4	+	2	176	c.86C>T	c.(85-87)aCg>aTg	p.T29M	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Missense_Mutation_p.T29M|KLHL26_ENST00000599006.1_Missense_Mutation_p.T29M	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	29										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCCGCAGCACGGCCGACAAG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14005	0.0		0.0	False		,,,				2504	0.0					ENST00000300976.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(85-87)aCg>aTg		kelch-like family member 26							87.0	101.0	97.0					19																	18775073		2203	4300	6503	SO:0001583	missense	55295							g.chr19:18775073C>T		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.86C>T	19.37:g.18775073C>T	ENSP00000300976:p.Thr29Met					KLHL26_ENST00000595182.1_Missense_Mutation_p.T29M|KLHL26_ENST00000599006.1_Missense_Mutation_p.T29M|KLHL26_ENST00000596843.1_3'UTR	p.T29M	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN			2	176	+			29					Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	37	c.86C>T	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	C	4.548	0.101695	0.08731	.	.	ENSG00000167487	ENST00000431920;ENST00000300976	T	0.76060	-0.99	4.14	3.08	0.35506	.	0.358888	0.31031	N	0.008396	T	0.50871	0.1641	N	0.08118	0	0.32306	N	0.564338	B	0.02656	0.0	B	0.01281	0.0	T	0.51068	-0.8752	10	0.41790	T	0.15	.	7.4264	0.27102	0.0:0.1156:0.0:0.8844	.	29	Q53HC5	KLH26_HUMAN	M	29	ENSP00000300976:T29M	ENSP00000300976:T29M	T	+	2	0	KLHL26	18636073	1.000000	0.71417	0.953000	0.39169	0.022000	0.10575	2.475000	0.45162	0.570000	0.29347	0.561000	0.74099	ACG		0.622	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316		18	102	0	0	0	1	0	18	102				
USP29	57663	broad.mit.edu	37	19	57642355	57642355	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:57642355C>A	ENST00000254181.4	+	4	2766	c.2312C>A	c.(2311-2313)tCt>tAt	p.S771Y	USP29_ENST00000598197.1_Missense_Mutation_p.S771Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	771	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCAATCAGTCTACAGAATTA	0.453																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(2311-2313)tCt>tAt		ubiquitin specific peptidase 29							50.0	42.0	45.0					19																	57642355		2203	4300	6503	SO:0001583	missense	0				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642355C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2312C>A	19.37:g.57642355C>A	ENSP00000254181:p.Ser771Tyr					USP29_ENST00000598197.1_Missense_Mutation_p.S771Y	p.S771Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2766	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	771						Missense_Mutation	SNP	ENST00000254181.4	37	c.2312C>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	6.089	0.384765	0.11524	.	.	ENSG00000131864	ENST00000254181	T	0.47869	0.83	2.04	0.993	0.19825	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.27313	0.0670	N	0.19112	0.55	0.09310	N	1	B	0.29432	0.244	B	0.22880	0.042	T	0.19289	-1.0310	9	0.66056	D	0.02	-1.3547	4.2632	0.10750	0.0:0.7942:0.0:0.2058	.	771	Q9HBJ7	UBP29_HUMAN	Y	771	ENSP00000254181:S771Y	ENSP00000254181:S771Y	S	+	2	0	USP29	62334167	0.033000	0.19621	0.000000	0.03702	0.002000	0.02628	0.970000	0.29383	0.403000	0.25479	0.591000	0.81541	TCT		0.453	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			4	27	1	0	0.000602214	1	0.000651809	4	27				
C20orf194	25943	broad.mit.edu	37	20	3259591	3259591	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr20:3259591G>A	ENST00000252032.9	-	29	2684	c.2617C>T	c.(2617-2619)Ctc>Ttc	p.L873F	C20orf194_ENST00000453730.2_3'UTR|RN7SL839P_ENST00000582912.1_RNA	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	873										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTAGGAAAGAGAAATCTAGGG	0.368																																						ENST00000252032.9																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						c.(2617-2619)Ctc>Ttc		chromosome 20 open reading frame 194							77.0	76.0	76.0					20																	3259591		1856	4093	5949	SO:0001583	missense	25943							g.chr20:3259591G>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2617C>T	20.37:g.3259591G>A	ENSP00000252032:p.Leu873Phe					C20orf194_ENST00000453730.2_3'UTR	p.L873F	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN			29	2684	-			873					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2617C>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	18.99	3.740113	0.69304	.	.	ENSG00000088854	ENST00000252032	T	0.19938	2.11	5.93	5.93	0.95920	.	0.147483	0.47093	D	0.000249	T	0.45816	0.1361	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.967	T	0.20371	-1.0277	10	0.66056	D	0.02	.	18.5344	0.91004	0.0:0.0:1.0:0.0	.	612;873	Q0IIP3;Q5TEA3	.;CT194_HUMAN	F	873	ENSP00000252032:L873F	ENSP00000252032:L873F	L	-	1	0	C20orf194	3207591	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	2.746000	0.47467	2.826000	0.97356	0.655000	0.94253	CTC		0.368	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		8	104	0	0	0	1	0	8	104				
ENPP1	5167	broad.mit.edu	37	6	132207857	132207857	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:132207857G>T	ENST00000360971.2	+	24	2620	c.2600G>T	c.(2599-2601)aGc>aTc	p.S867I		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	867	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AACAGCGAGAGCTGTGTGGTA	0.388																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(2599-2601)aGc>aTc		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						112.0	103.0	106.0					6																	132207857		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132207857G>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2600G>T	6.37:g.132207857G>T	ENSP00000354238:p.Ser867Ile						p.S867I	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	24	2620	+	Breast(56;0.0505)		867			Nuclease.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.2600G>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040326	0.35989	.	.	ENSG00000197594	ENST00000360971	T	0.66280	-0.2	5.62	4.76	0.60689	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.260386	0.43579	D	0.000556	T	0.72898	0.3518	M	0.80982	2.52	0.46654	D	0.999149	D	0.65815	0.995	D	0.67900	0.954	T	0.77840	-0.2438	10	0.59425	D	0.04	-11.0849	14.3604	0.66768	0.0718:0.0:0.9282:0.0	.	867	P22413	ENPP1_HUMAN	I	867	ENSP00000354238:S867I	ENSP00000354238:S867I	S	+	2	0	ENPP1	132249550	1.000000	0.71417	1.000000	0.80357	0.049000	0.14656	3.446000	0.52928	1.389000	0.46526	-0.150000	0.13652	AGC		0.388	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			6	93	1	0	0.0293803	1	0.0303707	6	93				
DPY19L2	283417	broad.mit.edu	37	12	64041124	64041124	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr12:64041124A>G	ENST00000324472.4	-	5	793	c.610T>C	c.(610-612)Tgc>Cgc	p.C204R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	204					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGAATGTGCAATACCAGGAG	0.303																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(610-612)Tgc>Cgc		dpy-19-like 2 (C. elegans)							71.0	75.0	74.0					12																	64041124		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041124A>G		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.610T>C	12.37:g.64041124A>G	ENSP00000315988:p.Cys204Arg					RP11-415I12.3_ENST00000509615.2_RNA	p.C204R	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	793	-			204					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.610T>C	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	a	0.001	-3.080093	0.00035	.	.	ENSG00000177990	ENST00000324472	T	0.44482	0.92	2.35	1.43	0.22495	.	0.072625	0.53938	N	0.000041	T	0.23210	0.0561	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05241	-1.0897	8	.	.	.	.	5.3731	0.16150	0.1764:0.0:0.8236:0.0	.	204	Q6NUT2	D19L2_HUMAN	R	204	ENSP00000315988:C204R	.	C	-	1	0	DPY19L2	62327391	1.000000	0.71417	0.580000	0.28601	0.408000	0.30992	2.818000	0.48041	0.315000	0.23110	-1.392000	0.01152	TGC		0.303	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		4	86	0	0	0	1	0	4	86				
TBC1D7	51256	broad.mit.edu	37	6	13316821	13316821	+	Silent	SNP	C	C	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:13316821C>A	ENST00000379300.3	-	5	744	c.501G>T	c.(499-501)cgG>cgT	p.R167R	TBC1D7_ENST00000607658.1_Silent_p.R140R|TBC1D7_ENST00000343141.4_Intron|TBC1D7_ENST00000379307.2_Silent_p.R140R|TBC1D7_ENST00000356436.4_Silent_p.R167R|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	167	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GCAAGGAATCCCGGTACTTGG	0.473																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(418-420)cgG>cgT		TBC1 domain family, member 7							136.0	146.0	142.0					6																	13316821		2203	4300	6503	SO:0001819	synonymous_variant	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13316821C>A	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.501G>T	6.37:g.13316821C>A						TBC1D7_ENST00000379300.3_Silent_p.R167R|TBC1D7_ENST00000379307.2_Silent_p.R140R|TBC1D7_ENST00000356436.4_Silent_p.R167R|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Intron	p.R140R			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		4	570	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	167			Rab-GAP TBC.		E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Silent	SNP	ENST00000379300.3	37	c.420G>T	CCDS4523.1																																																																																				0.473	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		43	87	1	0	2.13384e-23	1	2.54952e-23	43	87				
FAT3	120114	broad.mit.edu	37	11	92086088	92086088	+	Silent	SNP	T	T	C			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:92086088T>C	ENST00000298047.6	+	1	827	c.810T>C	c.(808-810)acT>acC	p.T270T	FAT3_ENST00000525166.1_Silent_p.T120T|FAT3_ENST00000409404.2_Silent_p.T270T|FAT3_ENST00000541502.1_Silent_p.T270T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	270	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGTAGTCACTCATGTTCCTT	0.423										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(808-810)acT>acC		FAT atypical cadherin 3							165.0	157.0	160.0					11																	92086088		2024	4196	6220	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086088T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.810T>C	11.37:g.92086088T>C		TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Silent_p.T270T|FAT3_ENST00000525166.1_Silent_p.T120T|FAT3_ENST00000541502.1_Silent_p.T270T	p.T270T			Q8TDW7	FAT3_HUMAN			1	827	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	270			Cadherin 3.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.810T>C																																																																																					0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		14	84	0	0	0	1	0	14	84				
SP2	6668	broad.mit.edu	37	17	45993545	45993545	+	Silent	SNP	C	C	G			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr17:45993545C>G	ENST00000376741.4	+	3	245	c.108C>G	c.(106-108)gcC>gcG	p.A36A	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	36					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CTCCCTTAGCCCTGCTTGCTG	0.577																																						ENST00000376741.4																			0				endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(106-108)gcC>gcG		Sp2 transcription factor							138.0	150.0	146.0					17																	45993545		2203	4300	6503	SO:0001819	synonymous_variant	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:45993545C>G		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.108C>G	17.37:g.45993545C>G						AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000411573.2_RNA	p.A36A	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN			3	245	+			36					A6NK74	Silent	SNP	ENST00000376741.4	37	c.108C>G	CCDS11521.2																																																																																				0.577	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110		49	175	0	0	0	1	0	49	175				
TUBGCP5	114791	broad.mit.edu	37	15	22855263	22855263	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr15:22855263C>A	ENST00000283645.4	+	13	1854	c.1724C>A	c.(1723-1725)gCg>gAg	p.A575E	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.A575E	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	575					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CTGCAGTGTGCGGAGAGCACC	0.562																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1723-1725)gCg>gAg		tubulin, gamma complex associated protein 5							43.0	38.0	39.0					15																	22855263		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22855263C>A	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1724C>A	15.37:g.22855263C>A	ENSP00000283645:p.Ala575Glu					TUBGCP5_ENST00000453949.2_Missense_Mutation_p.A575E|TUBGCP5_ENST00000559846.1_3'UTR	p.A575E	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	13	1854	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	575					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.1724C>A	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.066017	0.20067	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.06768	3.26;3.26	4.87	-0.819	0.10829	.	0.768042	0.12432	N	0.469500	T	0.04048	0.0113	N	0.24115	0.695	0.09310	N	1	B;B;B	0.29766	0.087;0.087;0.256	B;B;B	0.35353	0.201;0.201;0.201	T	0.39683	-0.9602	10	0.02654	T	1	0.91	1.773	0.03016	0.1342:0.4141:0.1181:0.3337	.	575;575;575	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	E	575	ENSP00000283645:A575E;ENSP00000409217:A575E	ENSP00000283645:A575E	A	+	2	0	TUBGCP5	20406704	0.782000	0.28689	0.000000	0.03702	0.904000	0.53231	1.046000	0.30354	-0.208000	0.10171	0.655000	0.94253	GCG		0.562	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		3	11	1	0	0.115264	1	0.117825	3	11				
NR1D1	9572	broad.mit.edu	37	17	38249344	38249344	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr17:38249344C>T	ENST00000246672.3	-	8	2467	c.1837G>A	c.(1837-1839)Gcc>Acc	p.A613T	THRA_ENST00000584985.1_Intron|THRA_ENST00000394121.4_Silent_p.G394G|THRA_ENST00000264637.4_Silent_p.G394G	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	613	Ligand-binding.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GGTCACTGGGCGTCCACCCGG	0.592																																						ENST00000246672.3																			0				endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11						c.(1837-1839)Gcc>Acc		nuclear receptor subfamily 1, group D, member 1							48.0	51.0	50.0					17																	38249344		2203	4300	6503	SO:0001583	missense	9572				cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38249344C>T	X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.1837G>A	17.37:g.38249344C>T	ENSP00000246672:p.Ala613Thr					THRA_ENST00000394121.4_Silent_p.G394G|THRA_ENST00000584985.1_Intron|THRA_ENST00000264637.4_Silent_p.G394G	p.A613T	NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN			8	2467	-	Colorectal(19;0.000442)		613					Q0P5Z4|Q15304	Missense_Mutation	SNP	ENST00000246672.3	37	c.1837G>A	CCDS11361.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.853551	0.51270	.	.	ENSG00000126368	ENST00000246672	D	0.91631	-2.88	5.05	5.05	0.67936	.	0.000000	0.56097	D	0.000025	D	0.89774	0.6812	.	.	.	0.47905	D	0.999545	D	0.57899	0.981	B	0.39876	0.312	D	0.91527	0.5239	9	0.72032	D	0.01	.	17.3484	0.87316	0.0:1.0:0.0:0.0	.	613	P20393	NR1D1_HUMAN	T	613	ENSP00000246672:A613T	ENSP00000246672:A613T	A	-	1	0	NR1D1	35502870	0.927000	0.31430	1.000000	0.80357	0.998000	0.95712	0.499000	0.22546	2.618000	0.88619	0.563000	0.77884	GCC		0.592	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257135.1			12	65	0	0	0	1	0	12	65				
HNRNPH1	3187	broad.mit.edu	37	5	179050048	179050048	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr5:179050048C>A	ENST00000356731.5	-	1	1622	c.87G>T	c.(85-87)agG>agT	p.R29S	HNRNPH1_ENST00000510411.1_Missense_Mutation_p.R29S|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.R29S|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.R29S|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.R29S|HNRNPH1_ENST00000524180.1_5'UTR			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	29	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CAGAAAAAAACCTCTGCACTT	0.672																																						ENST00000356731.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						c.(85-87)agG>agT		heterogeneous nuclear ribonucleoprotein H1 (H)							70.0	64.0	66.0					5																	179050048		2203	4300	6503	SO:0001583	missense	3187				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding	g.chr5:179050048C>A	BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.87G>T	5.37:g.179050048C>A	ENSP00000349168:p.Arg29Ser					HNRNPH1_ENST00000510411.1_Missense_Mutation_p.R29S|HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.R29S|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.R29S|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.R29S	p.R29S			P31943	HNRH1_HUMAN			1	1622	-			29			RRM 1.		B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	ENST00000356731.5	37	c.87G>T	CCDS4446.1	.	.	.	.	.	.	.	.	.	.	c	13.76	2.333756	0.41297	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000523137;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000504348;ENST00000513225;ENST00000515158;ENST00000521116;ENST00000515714;ENST00000503664	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28255	3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17;3.17;1.62;3.17;3.17;3.17;3.17;3.17;1.62	3.43	-5.96	0.02234	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.171578	0.48767	D	0.000168	T	0.13415	0.0325	N	0.16037	0.36	0.80722	D	1	B	0.29270	0.24	B	0.32393	0.145	T	0.02610	-1.1134	10	0.38643	T	0.18	-2.0715	8.1755	0.31278	0.3184:0.4248:0.2568:0.0	.	29	P31943	HNRH1_HUMAN	S	29	ENSP00000377082:R29S;ENSP00000397797:R29S;ENSP00000349168:R29S;ENSP00000327539:R29S;ENSP00000426275:R29S;ENSP00000427408:R29S;ENSP00000425732:R29S;ENSP00000420850:R29S;ENSP00000427986:R29S;ENSP00000424087:R29S;ENSP00000423140:R29S;ENSP00000430970:R29S;ENSP00000427388:R29S;ENSP00000426518:R29S;ENSP00000421695:R29S;ENSP00000429661:R29S;ENSP00000425343:R29S;ENSP00000426726:R29S	ENSP00000327539:R29S	R	-	3	2	HNRNPH1	178982654	0.000000	0.05858	0.994000	0.49952	0.897000	0.52465	-3.259000	0.00536	-0.660000	0.05352	0.491000	0.48974	AGG		0.672	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253497.3	NM_005520		5	18	1	0	0.000602214	1	0.000651809	5	18				
LINC01317	104355287	broad.mit.edu	37	2	33952672	33952672	+	lincRNA	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr2:33952672G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TGGCGTGGTCGCGGGAACGGC	0.642																																						ENST00000366209.2																			0																																																			0							g.chr2:33952672G>A																													2.37:g.33952672G>A						MYADML_ENST00000474610.1_RNA								0	68	+									RNA	SNP	ENST00000366209.2	37																																																																																						0.642	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	lincRNA	OTTHUMT00000325406.1			7	10	0	0	0	1	0	7	10				
UBE2C	11065	broad.mit.edu	37	20	44444280	44444280	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr20:44444280A>G	ENST00000356455.4	+	4	437	c.317A>G	c.(316-318)aAc>aGc	p.N106S	UBE2C_ENST00000372568.4_Missense_Mutation_p.N67S|UBE2C_ENST00000405520.1_Missense_Mutation_p.N67S|UBE2C_ENST00000243893.6_Intron|UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000352551.5_Missense_Mutation_p.N77S	NM_007019.2	NP_008950.1	O00762	UBE2C_HUMAN	ubiquitin-conjugating enzyme E2C	106					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cyclin catabolic process (GO:0008054)|exit from mitosis (GO:0010458)|free ubiquitin chain polymerization (GO:0010994)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(2)|lung(2)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				TATCACCCCAACGTGGACACC	0.522																																						ENST00000405520.1																			0				large_intestine(2)|lung(2)|skin(1)	5						c.(199-201)aAc>aGc		ubiquitin-conjugating enzyme E2C							97.0	93.0	94.0					20																	44444280		2203	4300	6503	SO:0001583	missense	11065				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization	anaphase-promoting complex|cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr20:44444280A>G	U73379	CCDS13370.1, CCDS13371.1, CCDS13372.1, CCDS13374.1, CCDS74733.1, CCDS74734.1	20q13.12	2007-02-05			ENSG00000175063	ENSG00000175063		"""Ubiquitin-conjugating enzymes E2"""	15937	protein-coding gene	gene with protein product		605574				9122200	Standard	NM_007019		Approved	UBCH10	uc002xpm.3	O00762	OTTHUMG00000033038	ENST00000356455.4:c.317A>G	20.37:g.44444280A>G	ENSP00000348838:p.Asn106Ser					UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000372568.4_Missense_Mutation_p.N67S|UBE2C_ENST00000352551.5_Missense_Mutation_p.N77S|UBE2C_ENST00000335046.3_Intron|UBE2C_ENST00000356455.4_Missense_Mutation_p.N106S|UBE2C_ENST00000243893.6_Intron	p.N67S	NM_181802.1	NP_861518.1	O00762	UBE2C_HUMAN			3	1037	+		Myeloproliferative disorder(115;0.0122)	106					A6NP33|E1P5N7|G3XAB7	Missense_Mutation	SNP	ENST00000356455.4	37	c.200A>G	CCDS13370.1	.	.	.	.	.	.	.	.	.	.	A	19.52	3.843932	0.71488	.	.	ENSG00000175063	ENST00000356455;ENST00000405520;ENST00000352551;ENST00000372568	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.12	5.12	0.69794	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.047154	0.85682	D	0.000000	T	0.77032	0.4071	H	0.99211	4.47	0.58432	D	0.999995	B;B	0.26400	0.089;0.148	B;B	0.39935	0.314;0.15	T	0.81304	-0.0993	10	0.72032	D	0.01	-13.7985	12.8761	0.57991	1.0:0.0:0.0:0.0	.	77;106	A6NP33;O00762	.;UBE2C_HUMAN	S	106;67;77;67	ENSP00000348838:N106S;ENSP00000385878:N67S;ENSP00000333975:N77S;ENSP00000361649:N67S	ENSP00000333975:N77S	N	+	2	0	UBE2C	43877687	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.750000	0.91623	1.932000	0.55993	0.454000	0.30748	AAC		0.522	UBE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080309.2	NM_007019		21	86	0	0	0	1	0	21	86				
KCNJ16	3773	broad.mit.edu	37	17	68128240	68128240	+	Silent	SNP	C	C	T	rs377652819		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr17:68128240C>T	ENST00000589377.1	+	2	175	c.12C>T	c.(10-12)taC>taT	p.Y4Y	KCNJ16_ENST00000586462.1_Silent_p.Y43Y|KCNJ16_ENST00000392671.1_Silent_p.Y4Y|KCNJ16_ENST00000392670.1_Silent_p.Y4Y|KCNJ16_ENST00000585558.1_Silent_p.Y39Y|KCNJ16_ENST00000283936.1_Silent_p.Y4Y	NM_001270422.1	NP_001257351.1	Q9NPI9	KCJ16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	4					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGAGCTATTACGGCAGCAGCT	0.428																																						ENST00000585558.1																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						c.(115-117)taC>taT		potassium inwardly-rectifying channel, subfamily J, member 16		C	,,	0,4406		0,0,2203	53.0	49.0	50.0		12,12,12	3.4	1.0	17		50	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNJ16	NM_018658.1,NM_170741.1,NM_170742.1	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	4/419,4/419,4/419	68128240	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3773				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr17:68128240C>T	AF153815	CCDS11687.1, CCDS74141.1	17q24.3	2011-07-05				ENSG00000153822		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6262	protein-coding gene	gene with protein product		605722				11240146, 16382105	Standard	NM_018658		Approved	Kir5.1, BIR9	uc002jio.4	Q9NPI9		ENST00000589377.1:c.12C>T	17.37:g.68128240C>T						KCNJ16_ENST00000586462.1_Silent_p.Y43Y|KCNJ16_ENST00000392670.1_Silent_p.Y4Y|KCNJ16_ENST00000283936.1_Silent_p.Y4Y|KCNJ16_ENST00000589377.1_Silent_p.Y4Y|KCNJ16_ENST00000392671.1_Silent_p.Y4Y	p.Y39Y			Q9NPI9	IRK16_HUMAN			4	505	+	Breast(10;2.96e-09)		4						Silent	SNP	ENST00000589377.1	37	c.117C>T	CCDS11687.1																																																																																				0.428	KCNJ16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450880.1	NM_018658		9	38	0	0	0	1	0	9	38				
ANP32A	8125	broad.mit.edu	37	15	69080172	69080172	+	Silent	SNP	T	T	C			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr15:69080172T>C	ENST00000465139.2	-	2	284	c.141A>G	c.(139-141)ttA>ttG	p.L47L	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Silent_p.L47L	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	47					gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|nucleocytoplasmic transport (GO:0006913)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(2)	4						TGATTGTACTTAAGAATTCCA	0.453																																						ENST00000465139.2																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(139-141)ttA>ttG		acidic (leucine-rich) nuclear phosphoprotein 32 family, member A							150.0	152.0	151.0					15																	69080172		2200	4298	6498	SO:0001819	synonymous_variant	8125				intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding	g.chr15:69080172T>C	AF025684	CCDS45292.1	15q23	2008-05-14			ENSG00000140350	ENSG00000140350		"""ANP32 acidic nuclear phosphoproteins"""	13233	protein-coding gene	gene with protein product		600832		C15orf1		8970164, 9144194	Standard	NM_006305		Approved	LANP, PP32, I1PP2A, PHAPI, MAPM, mapmodulin	uc002arl.3	P39687	OTTHUMG00000154502	ENST00000465139.2:c.141A>G	15.37:g.69080172T>C						ANP32A_ENST00000560303.1_Silent_p.L47L|ANP32A_ENST00000483551.2_5'UTR	p.L47L	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN			2	284	-			47					B2R6T4|Q53FK4|Q5J8L8|Q7M4N6	Silent	SNP	ENST00000465139.2	37	c.141A>G	CCDS45292.1																																																																																				0.453	ANP32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335525.2			36	67	0	0	0	1	0	36	67				
DPY19L2	283417	broad.mit.edu	37	12	64041106	64041106	+	Missense_Mutation	SNP	T	T	C	rs200602630		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr12:64041106T>C	ENST00000324472.4	-	5	811	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	210					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAATTCATTATTCCCATG	0.318																																						ENST00000324472.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(628-630)Atg>Gtg		dpy-19-like 2 (C. elegans)							64.0	68.0	67.0					12																	64041106		2203	4298	6501	SO:0001583	missense	283417				multicellular organismal development|spermatid development	integral to membrane		g.chr12:64041106T>C		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.628A>G	12.37:g.64041106T>C	ENSP00000315988:p.Met210Val					RP11-415I12.3_ENST00000509615.2_RNA	p.M210V	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)	5	811	-			210					A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	c.628A>G	CCDS31851.1	137	0.06272893772893773	57	0.11585365853658537	8	0.022099447513812154	55	0.09615384615384616	17	0.022427440633245383	T	2.494	-0.316745	0.05386	.	.	ENSG00000177990	ENST00000324472	T	0.54479	0.57	2.35	1.07	0.20283	.	0.097071	0.64402	U	0.000002	T	0.00440	0.0014	.	.	.	0.80722	D	1	B	0.24258	0.1	B	0.22152	0.038	T	0.04373	-1.0956	8	.	.	.	.	4.6287	0.12491	0.2818:0.0:0.0:0.7182	.	210	Q6NUT2	D19L2_HUMAN	V	210	ENSP00000315988:M210V	.	M	-	1	0	DPY19L2	62327373	1.000000	0.71417	0.995000	0.50966	0.654000	0.38779	3.307000	0.51888	0.118000	0.18165	0.155000	0.16302	ATG		0.318	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		4	79	0	0	0	1	0	4	79				
HEATR1	55127	broad.mit.edu	37	1	236746154	236746154	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:236746154G>A	ENST00000366582.3	-	19	2558	c.2444C>T	c.(2443-2445)cCt>cTt	p.P815L	HEATR1_ENST00000366581.2_Missense_Mutation_p.P815L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	815					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CAGTTGTTCAGGATTCCACCA	0.433																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2443-2445)cCt>cTt		HEAT repeat containing 1							141.0	112.0	122.0					1																	236746154		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236746154G>A	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2444C>T	1.37:g.236746154G>A	ENSP00000355541:p.Pro815Leu					HEATR1_ENST00000366581.2_Missense_Mutation_p.P815L	p.P815L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		19	2558	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	815					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2444C>T	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251710	0.80135	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.07021	3.29;3.23	5.62	4.71	0.59529	Armadillo-type fold (1);	0.052365	0.85682	N	0.000000	T	0.27454	0.0674	M	0.72894	2.215	0.80722	D	1	B;D	0.89917	0.125;1.0	B;D	0.73708	0.028;0.981	T	0.01666	-1.1300	10	0.66056	D	0.02	.	14.2715	0.66154	0.0713:0.0:0.9287:0.0	.	815;815	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	L	815	ENSP00000355541:P815L;ENSP00000355540:P815L	ENSP00000355540:P815L	P	-	2	0	HEATR1	234812777	1.000000	0.71417	0.925000	0.36789	0.951000	0.60555	4.449000	0.60034	1.375000	0.46248	0.655000	0.94253	CCT		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		5	30	0	0	0	1	0	5	30				
NOD2	64127	broad.mit.edu	37	16	50733808	50733808	+	Silent	SNP	C	C	T	rs565504727	byFrequency	TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr16:50733808C>T	ENST00000300589.2	+	2	588	c.483C>T	c.(481-483)ttC>ttT	p.F161F	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	161	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCGGGGTTTCGTCAGCCAGT	0.582													C|||	13	0.00259585	0.0	0.0	5008	,	,		19476	0.0		0.0	False		,,,				2504	0.0133					ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(481-483)ttC>ttT		nucleotide-binding oligomerization domain containing 2							73.0	64.0	67.0					16																	50733808		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50733808C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.483C>T	16.37:g.50733808C>T						NOD2_ENST00000526417.2_3'UTR	p.F161F	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			2	588	+		all_cancers(37;0.0156)	161			CARD 2.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.483C>T	CCDS10746.1																																																																																				0.582	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		7	21	0	0	0	1	0	7	21				
BNC2	54796	broad.mit.edu	37	9	16436341	16436341	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr9:16436341C>A	ENST00000380672.4	-	6	1908	c.1851G>T	c.(1849-1851)atG>atT	p.M617I	BNC2_ENST00000380666.2_Missense_Mutation_p.M617I|BNC2_ENST00000380667.2_Missense_Mutation_p.M550I|BNC2_ENST00000545497.1_Missense_Mutation_p.M522I	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGGTGGCCATCATCACTGCTG	0.562																																						ENST00000380672.4																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60						c.(1849-1851)atG>atT		basonuclin 2							77.0	77.0	77.0					9																	16436341		2203	4300	6503	SO:0001583	missense	54796				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	g.chr9:16436341C>A	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1851G>T	9.37:g.16436341C>A	ENSP00000370047:p.Met617Ile					BNC2_ENST00000380666.2_Missense_Mutation_p.M617I|BNC2_ENST00000380667.2_Missense_Mutation_p.M550I|BNC2_ENST00000545497.1_Missense_Mutation_p.M522I	p.M617I	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN		GBM - Glioblastoma multiforme(50;9.01e-08)	6	1908	-			617						Missense_Mutation	SNP	ENST00000380672.4	37	c.1851G>T	CCDS6482.2	.	.	.	.	.	.	.	.	.	.	C	3.259	-0.151607	0.06585	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.42131	1.59;0.98;1.59;1.6;1.6;1.58	6.17	5.28	0.74379	.	0.435018	0.29300	N	0.012558	T	0.19685	0.0473	N	0.03608	-0.345	0.28068	N	0.932707	B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B	0.04013	0.0;0.0;0.001;0.001;0.0;0.0;0.0;0.0;0.0	T	0.09079	-1.0691	10	0.37606	T	0.19	-18.9406	8.3084	0.32055	0.1271:0.7415:0.0:0.1315	.	522;550;617;443;617;574;617;522;382	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	I	617;10;574;550;522;443;617;617	ENSP00000370047:M617I;ENSP00000392212:M10I;ENSP00000408370:M574I;ENSP00000370042:M550I;ENSP00000444640:M522I;ENSP00000370041:M617I	ENSP00000370041:M617I	M	-	3	0	BNC2	16426341	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	2.046000	0.41260	1.630000	0.50440	0.655000	0.94253	ATG		0.562	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216901.5	NM_017637		9	51	1	0	6.42651e-13	1	7.48404e-13	9	51				
XIRP2	129446	broad.mit.edu	37	2	168102424	168102424	+	Missense_Mutation	SNP	G	G	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr2:168102424G>T	ENST00000409195.1	+	9	4611	c.4522G>T	c.(4522-4524)Ggt>Tgt	p.G1508C	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1286C|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1508C|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1333					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGCACATAAAGGTATCACAAA	0.388																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(4522-4524)Ggt>Tgt		xin actin-binding repeat containing 2							82.0	74.0	77.0					2																	168102424		1895	4121	6016	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102424G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4522G>T	2.37:g.168102424G>T	ENSP00000386840:p.Gly1508Cys					XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1508C|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1286C	p.G1508C	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4611	+			1333					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4522G>T	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	1.196	-0.633939	0.03584	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02472	4.28;4.28;4.28	5.56	1.35	0.21983	.	0.613857	0.17877	N	0.158963	T	0.02193	0.0068	N	0.08118	0	0.09310	N	1	P;P;P	0.42649	0.681;0.786;0.683	B;P;B	0.46339	0.315;0.513;0.326	T	0.48445	-0.9035	10	0.46703	T	0.11	-0.3625	6.434	0.21813	0.7173:0.0:0.1564:0.1263	.	1333;1333;1286	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	C	1508;1508;1286	ENSP00000386840:G1508C;ENSP00000295237:G1508C;ENSP00000387255:G1286C	ENSP00000295237:G1508C	G	+	1	0	XIRP2	167810670	0.002000	0.14202	0.258000	0.24420	0.010000	0.07245	1.480000	0.35464	0.400000	0.25396	-0.471000	0.05019	GGT		0.388	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		23	49	1	0	3.85864e-22	1	4.55122e-22	23	49				
QSER1	79832	broad.mit.edu	37	11	32956318	32956318	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:32956318C>T	ENST00000399302.2	+	4	3462	c.3127C>T	c.(3127-3129)Ctt>Ttt	p.L1043F	QSER1_ENST00000527788.1_Missense_Mutation_p.L804F	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1043										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TAGGAGTGCACTTGCACTGTT	0.433																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(3127-3129)Ctt>Ttt		glutamine and serine rich 1							86.0	82.0	83.0					11																	32956318		1940	4141	6081	SO:0001583	missense	79832							g.chr11:32956318C>T	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.3127C>T	11.37:g.32956318C>T	ENSP00000382241:p.Leu1043Phe					QSER1_ENST00000527788.1_Missense_Mutation_p.L804F	p.L1043F	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			4	3462	+	Breast(20;0.158)		1043					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.3127C>T	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	9.158	1.017967	0.19355	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.24538	2.18;1.85	5.51	2.61	0.31194	.	0.206934	0.30930	N	0.008590	T	0.38427	0.1040	M	0.70595	2.14	0.21984	N	0.999439	D;B;B	0.63046	0.992;0.003;0.003	P;B;B	0.62298	0.9;0.007;0.003	T	0.25398	-1.0133	10	0.56958	D	0.05	.	2.5569	0.04762	0.3944:0.3556:0.108:0.1421	.	804;804;1043	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	F	1043;804;804	ENSP00000382241:L1043F;ENSP00000432766:L804F	ENSP00000078652:L804F	L	+	1	0	QSER1	32912894	0.007000	0.16637	0.489000	0.27452	0.340000	0.28889	0.512000	0.22755	0.280000	0.22209	0.563000	0.77884	CTT		0.433	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		4	44	0	0	0	1	0	4	44				
SLC9A9	285195	broad.mit.edu	37	3	143185954	143185954	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr3:143185954G>A	ENST00000316549.6	-	12	1602	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	465					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GAGGAGCAGCGTAGTGGTAAA	0.488																																						ENST00000316549.6																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						c.(1393-1395)aCg>aTg		solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9							160.0	132.0	142.0					3																	143185954		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143185954G>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1394C>T	3.37:g.143185954G>A	ENSP00000320246:p.Thr465Met						p.T465M	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN			12	1602	-			465					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.1394C>T	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719191	0.89205	.	.	ENSG00000181804	ENST00000316549	T	0.16897	2.31	5.71	5.71	0.89125	Cation/H+ exchanger (1);	0.071648	0.64402	D	0.000020	T	0.51109	0.1655	M	0.88704	2.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.69824	0.966	T	0.58364	-0.7649	10	0.87932	D	0	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	465	Q8IVB4	SL9A9_HUMAN	M	465	ENSP00000320246:T465M	ENSP00000320246:T465M	T	-	2	0	SLC9A9	144668644	1.000000	0.71417	0.952000	0.39060	0.844000	0.47949	9.441000	0.97557	2.709000	0.92574	0.655000	0.94253	ACG		0.488	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		4	29	0	0	0	1	0	4	29				
PCDHA10	56139	broad.mit.edu	37	5	140237812	140237812	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr5:140237812G>A	ENST00000307360.5	+	1	2179	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	727					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCCCACCGAGGGCGCATG	0.652																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(2179-2181)Gag>Aag																																						SO:0001583	missense	0							g.chr5:140237812G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.2179G>A	5.37:g.140237812G>A	ENSP00000304234:p.Glu727Lys					PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	p.E727K	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2179	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.2179G>A	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	8.105	0.777591	0.16120	.	.	ENSG00000250120	ENST00000307360	T	0.13657	2.57	3.66	1.77	0.24775	.	.	.	.	.	T	0.20495	0.0493	M	0.90252	3.1	0.09310	N	1	B;B	0.20988	0.038;0.05	B;B	0.24269	0.052;0.016	T	0.34453	-0.9828	9	0.18710	T	0.47	.	7.0943	0.25301	0.1056:0.1865:0.7079:0.0	.	727;727	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	K	727	ENSP00000304234:E727K	ENSP00000304234:E727K	E	+	1	0	PCDHA10	140217996	0.038000	0.19896	0.665000	0.29768	0.088000	0.18126	1.980000	0.40618	0.820000	0.34516	0.491000	0.48974	GAG		0.652	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		4	13	0	0	0	1	0	4	13				
CYP11B1	1584	broad.mit.edu	37	8	143957228	143957228	+	Missense_Mutation	SNP	G	G	A	rs372115638		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr8:143957228G>A	ENST00000292427.4	-	6	1053	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	341					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCTCCTGGCGCAGGGCCTGC	0.642									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	GRCh37	HM972176	CYP11B1	M		c.(1021-1023)Cgc>Tgc		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)	G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	78.0	80.0	79.0		1021,1021	2.2	1.0	8		79	1,8599		0,1,4299	no	missense,missense	CYP11B1	NM_000497.3,NM_001026213.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	341/504,341/438	143957228	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143957228G>A	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1021C>T	8.37:g.143957228G>A	ENSP00000292427:p.Arg341Cys					CYP11B1_ENST00000517471.1_Missense_Mutation_p.R341C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R412C	p.R341C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			6	1053	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		341					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	ENST00000292427.4	37	c.1021C>T	CCDS6392.1	.	.	.	.	.	.	.	.	.	.	.	17.71	3.456204	0.63401	0.0	1.16E-4	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.73152	-0.72;2.31;-0.72	4.42	2.16	0.27623	.	0.126247	0.31963	N	0.006789	D	0.85652	0.5746	M	0.93854	3.465	0.58432	D	0.999996	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;0.997;0.997;0.976;0.999	D	0.86599	0.1865	10	0.66056	D	0.02	.	9.7347	0.40382	0.0:0.0:0.4473:0.5527	.	412;341;341;341;57	Q4VAR0;Q8TDD0;Q4VAQ9;P15538;Q8N9P8	.;.;.;C11B1_HUMAN;.	C	341;341;412	ENSP00000292427:R341C;ENSP00000428043:R341C;ENSP00000366903:R412C	ENSP00000292427:R341C	R	-	1	0	CYP11B1	143954230	0.011000	0.17503	0.991000	0.47740	0.808000	0.45660	0.560000	0.23500	0.949000	0.37715	0.555000	0.69702	CGC		0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			28	84	0	0	0	1	0	28	84				
PTCHD2	57540	broad.mit.edu	37	1	11596383	11596383	+	Silent	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:11596383C>T	ENST00000294484.6	+	21	3957	c.3819C>T	c.(3817-3819)gaC>gaT	p.D1273D	PTCHD2_ENST00000304391.6_Missense_Mutation_p.R160C|PTCHD2_ENST00000389575.3_Silent_p.D1273D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1273					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GCCCCCAGGACGCCCGAACGC	0.716																																						ENST00000304391.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(478-480)Cgc>Tgc		patched domain containing 2							27.0	29.0	28.0					1																	11596383		2117	4205	6322	SO:0001819	synonymous_variant	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596383C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3819C>T	1.37:g.11596383C>T						PTCHD2_ENST00000389575.3_Silent_p.D1273D|PTCHD2_ENST00000294484.6_Silent_p.D1273D	p.R160C			Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	5	596	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.478C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.256446	0.39896	.	.	ENSG00000204624	ENST00000304391	.	.	.	4.89	-0.254	0.12992	.	.	.	.	.	T	0.63046	0.2478	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62081	-0.6929	5	0.87932	D	0	-25.8306	9.058	0.36416	0.0:0.5532:0.0:0.4468	.	.	.	.	C	160	.	ENSP00000303400:R160C	R	+	1	0	PTCHD2	11518970	0.000000	0.05858	0.024000	0.17045	0.053000	0.15095	-0.539000	0.06113	-0.358000	0.08162	-0.812000	0.03155	CGC		0.716	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		9	9	0	0	0	1	0	9	9				
RELB	5971	broad.mit.edu	37	19	45525436	45525436	+	Silent	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:45525436G>A	ENST00000221452.8	+	5	780	c.630G>A	c.(628-630)gtG>gtA	p.V210V	RELB_ENST00000505236.1_Silent_p.V207V|RELB_ENST00000540120.1_Silent_p.V210V	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	210	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCTGCAGGGTGCGGCTCCGGC	0.652																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(628-630)gtG>gtA		v-rel avian reticuloendotheliosis viral oncogene homolog B							43.0	50.0	48.0					19																	45525436		2077	4206	6283	SO:0001819	synonymous_variant	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45525436G>A	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.630G>A	19.37:g.45525436G>A						RELB_ENST00000540120.1_Silent_p.V210V|RELB_ENST00000505236.1_Silent_p.V207V	p.V210V	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	5	780	+		Ovarian(192;0.0728)|all_neural(266;0.112)	210			RHD.		Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	c.630G>A	CCDS46110.1																																																																																				0.652	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			15	28	0	0	0	1	0	15	28				
SSTR4	6754	broad.mit.edu	37	20	23016578	23016578	+	Missense_Mutation	SNP	G	G	A	rs542657849		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr20:23016578G>A	ENST00000255008.3	+	1	522	c.458G>A	c.(457-459)cGc>cAc	p.R153H	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	153					arachidonic acid metabolic process (GO:0019369)|cell migration (GO:0016477)|cellular response to glucocorticoid stimulus (GO:0071385)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|negative regulation of cell proliferation (GO:0008285)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CACCCTCTGCGCGCGGCGACC	0.667													G|||	1	0.000199681	0.0	0.0	5008	,	,		15103	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(15;850 1104 16640)	ENST00000255008.3																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32						c.(457-459)cGc>cAc		somatostatin receptor 4							52.0	55.0	54.0					20																	23016578		2202	4294	6496	SO:0001583	missense	6754				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	g.chr20:23016578G>A		CCDS42856.1	20p11.21	2014-07-11			ENSG00000132671	ENSG00000132671		"""GPCR / Class A : Somatostatin receptors"""	11333	protein-coding gene	gene with protein product		182454				8483934	Standard	NM_001052		Approved		uc002wsr.2	P31391	OTTHUMG00000032054	ENST00000255008.3:c.458G>A	20.37:g.23016578G>A	ENSP00000255008:p.Arg153His					RP4-753D10.3_ENST00000440921.1_RNA	p.R153H	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN			1	522	+	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)		153					Q17RM1|Q17RM3|Q9UIY1	Missense_Mutation	SNP	ENST00000255008.3	37	c.458G>A	CCDS42856.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534143	0.64972	.	.	ENSG00000132671	ENST00000255008	T	0.39406	1.08	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.103756	0.36972	U	0.002306	T	0.46814	0.1412	M	0.68317	2.08	0.40933	D	0.984405	P	0.43885	0.82	B	0.43680	0.427	T	0.58983	-0.7539	10	0.87932	D	0	.	14.5253	0.67884	0.0:0.0:1.0:0.0	.	153	P31391	SSR4_HUMAN	H	153	ENSP00000255008:R153H	ENSP00000255008:R153H	R	+	2	0	SSTR4	22964578	0.017000	0.18338	0.790000	0.31976	0.759000	0.43091	1.244000	0.32778	1.971000	0.57363	0.655000	0.94253	CGC		0.667	SSTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078308.1			13	94	0	0	0	1	0	13	94				
CD1C	911	broad.mit.edu	37	1	158261881	158261881	+	Silent	SNP	T	T	C			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:158261881T>C	ENST00000368170.3	+	3	615	c.336T>C	c.(334-336)ttT>ttC	p.F112F		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	112					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGATCCCTTTGAAGTACAGG	0.428																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(334-336)ttT>ttC		CD1c molecule							70.0	75.0	73.0					1																	158261881		2203	4300	6503	SO:0001819	synonymous_variant	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158261881T>C	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.336T>C	1.37:g.158261881T>C							p.F112F	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			3	615	+	all_hematologic(112;0.0378)		112					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	c.336T>C	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	2.588	-0.295973	0.05532	.	.	ENSG00000158481	ENST00000443761	.	.	.	3.81	-4.05	0.03998	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.433	0.16464	0.0:0.2054:0.4876:0.3069	.	.	.	.	R	47	.	.	X	+	1	0	CD1C	156528505	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	0.254000	0.18314	-0.469000	0.06911	-1.187000	0.01702	TGA		0.428	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		39	58	0	0	0	1	0	39	58				
HSPA8	3312	broad.mit.edu	37	11	122929402	122929402	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:122929402T>C	ENST00000532636.1	-	7	1579	c.1460A>G	c.(1459-1461)aAt>aGt	p.N487S	HSPA8_ENST00000534319.1_Missense_Mutation_p.N251S|HSPA8_ENST00000227378.3_Missense_Mutation_p.N487S|HSPA8_ENST00000526862.1_5'Flank|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.N468S|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.N487S|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.N341S|HSPA8_ENST00000453788.2_Intron			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	487					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCAGAGACATTGAGTATACC	0.453																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1459-1461)aAt>aGt		heat shock 70kDa protein 8							146.0	140.0	142.0					11																	122929402		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122929402T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1460A>G	11.37:g.122929402T>C	ENSP00000437125:p.Asn487Ser					HSPA8_ENST00000534319.1_Missense_Mutation_p.N251S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N341S|HSPA8_ENST00000532636.1_Missense_Mutation_p.N487S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N468S|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.N487S	p.N487S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	7	1736	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	487					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1460A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199496	0.58126	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.04083	3.71;3.71;3.71;3.71;3.71;3.71;3.71;3.71	4.45	4.45	0.53987	.	0.110642	0.56097	N	0.000029	T	0.08179	0.0204	M	0.71296	2.17	0.80722	D	1	P;P	0.38863	0.65;0.65	B;B	0.34385	0.181;0.181	T	0.06338	-1.0832	10	0.87932	D	0	-25.2708	14.0257	0.64584	0.0:0.0:0.0:1.0	.	487;487	Q53GZ6;P11142	.;HSP7C_HUMAN	S	487;341;487;487;251;468;78;39	ENSP00000437125:N487S;ENSP00000437189:N341S;ENSP00000432083:N487S;ENSP00000227378:N487S;ENSP00000433316:N251S;ENSP00000433584:N468S;ENSP00000435908:N78S;ENSP00000435019:N39S	ENSP00000227378:N487S	N	-	2	0	HSPA8	122434612	1.000000	0.71417	0.923000	0.36655	0.771000	0.43674	8.012000	0.88631	1.760000	0.52011	0.459000	0.35465	AAT		0.453	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			19	136	0	0	0	1	0	19	136				
ZNF354B	117608	broad.mit.edu	37	5	178310743	178310743	+	Silent	SNP	A	A	C			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr5:178310743A>C	ENST00000322434.3	+	5	1516	c.1290A>C	c.(1288-1290)atA>atC	p.I430I	RNU1-39P_ENST00000383897.1_RNA	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACACCGAATAATTCATACTG	0.353																																						ENST00000322434.3																			0				breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21						c.(1288-1290)atA>atC		zinc finger protein 354B							70.0	75.0	73.0					5																	178310743		2203	4300	6503	SO:0001819	synonymous_variant	117608				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178310743A>C	AK057737	CCDS4439.1	5q35.3	2013-01-08			ENSG00000178338	ENSG00000178338		"""Zinc fingers, C2H2-type"", ""-"""	17197	protein-coding gene	gene with protein product							Standard	NM_058230		Approved	KID2, FLJ25008	uc003mjl.3	Q96LW1	OTTHUMG00000130896	ENST00000322434.3:c.1290A>C	5.37:g.178310743A>C							p.I430I	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1516	+	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	430					A8K0V2|Q5U5Z4	Silent	SNP	ENST00000322434.3	37	c.1290A>C	CCDS4439.1																																																																																				0.353	ZNF354B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253482.1	NM_058230		3	54	0	0	0	1	0	3	54				
IGFBP3	3486	broad.mit.edu	37	7	45957023	45957023	+	Missense_Mutation	SNP	G	G	A	rs139238956		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr7:45957023G>A	ENST00000275521.6	-	2	552	c.419C>T	c.(418-420)tCg>tTg	p.S140L	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381083.4_Missense_Mutation_p.S146L|IGFBP3_ENST00000381086.5_Missense_Mutation_p.S43L	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	140	Ser/Thr-rich.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoblast differentiation (GO:0001649)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of myoblast differentiation (GO:0045663)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|insulin-like growth factor binding protein complex (GO:0016942)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activator activity (GO:0008160)			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	GTCTTCCTCCGACTCACTAGC	0.502											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		16633	0.0		0.001	False		,,,				2504	0.0					ENST00000275521.6																			0				large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17						c.(418-420)tCg>tTg		insulin-like growth factor binding protein 3	Mecasermin(DB01277)	G	LEU/SER,LEU/SER	1,4405	2.1+/-5.4	0,1,2202	40.0	42.0	41.0		419,437	4.6	0.9	7	dbSNP_134	41	0,8600		0,0,4300	no	missense,missense	IGFBP3	NM_000598.4,NM_001013398.1	145,145	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	140/292,146/298	45957023	1,13005	2203	4300	6503	SO:0001583	missense	3486				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	g.chr7:45957023G>A		CCDS5505.1, CCDS34632.1	7p12.3	2014-09-17			ENSG00000146674	ENSG00000146674			5472	protein-coding gene	gene with protein product	"""growth hormone-dependent binding protein"", ""acid stable subunit of the 140 K IGF complex"", ""binding protein 53"", ""binding protein 29"", ""IGF-binding protein 3"""	146732				1695633	Standard	NM_000598		Approved	IBP3, BP-53	uc003tnr.3	P17936	OTTHUMG00000023769	ENST00000275521.6:c.419C>T	7.37:g.45957023G>A	ENSP00000275521:p.Ser140Leu		OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	935	IGFBP3_ENST00000381086.5_Missense_Mutation_p.S43L|IGFBP3_ENST00000381083.4_Missense_Mutation_p.S146L|IGFBP3_ENST00000465642.1_5'UTR	p.S140L	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN			2	552	-			140			Ser/Thr-rich.		A4D2F5|D3DVM0|Q2V509|Q6P1M6|Q9UCL4	Missense_Mutation	SNP	ENST00000275521.6	37	c.419C>T	CCDS5505.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.982355	0.53827	2.27E-4	0.0	ENSG00000146674	ENST00000545032;ENST00000275521;ENST00000381086;ENST00000438491;ENST00000442142;ENST00000381083;ENST00000433047;ENST00000448817	T;T;T;T	0.26957	2.34;1.7;2.39;1.87	5.55	4.59	0.56863	.	4.077650	0.01510	U	0.017898	T	0.35998	0.0951	M	0.80183	2.485	0.22446	N	0.999093	P;P;P	0.49783	0.785;0.818;0.928	B;B;B	0.37144	0.121;0.217;0.242	T	0.49943	-0.8885	10	0.45353	T	0.12	-23.8507	12.3786	0.55293	0.0:0.0:0.8207:0.1793	.	43;140;125	B3KWK7;P17936;B4DN53	.;IBP3_HUMAN;.	L	117;140;43;126;38;146;112;30	ENSP00000275521:S140L;ENSP00000370476:S43L;ENSP00000370473:S146L;ENSP00000389668:S30L	ENSP00000275521:S140L	S	-	2	0	IGFBP3	45923548	1.000000	0.71417	0.938000	0.37757	0.246000	0.25737	4.133000	0.57983	2.613000	0.88420	0.655000	0.94253	TCG		0.502	IGFBP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251356.3	NM_001013398		9	27	0	0	0	1	0	9	27				
APBB1IP	54518	broad.mit.edu	37	10	26825137	26825137	+	Silent	SNP	A	A	G			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr10:26825137A>G	ENST00000376236.4	+	10	1490	c.1035A>G	c.(1033-1035)ggA>ggG	p.G345G		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	345	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TACCCAAAGGAAAGACTAAGG	0.328																																						ENST00000376236.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						c.(1033-1035)ggA>ggG		amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein							77.0	94.0	88.0					10																	26825137		2199	4297	6496	SO:0001819	synonymous_variant	54518				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		g.chr10:26825137A>G	AB085852	CCDS31167.1	10p12.1	2013-01-10			ENSG00000077420	ENSG00000077420		"""Pleckstrin homology (PH) domain containing"""	17379	protein-coding gene	gene with protein product	"""Rap1-GTP-interacting adaptor molecule"""	609036				9407065	Standard	NM_019043		Approved	INAG1, RIAM	uc001iss.3	Q7Z5R6	OTTHUMG00000017841	ENST00000376236.4:c.1035A>G	10.37:g.26825137A>G							p.G345G	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN			10	1490	+			345			PH.		Q8IWS8|Q8IYL7|Q8IZZ7	Silent	SNP	ENST00000376236.4	37	c.1035A>G	CCDS31167.1																																																																																				0.328	APBB1IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047270.1	NM_019043		26	129	0	0	0	1	0	26	129				
SPATA31D1	389763	broad.mit.edu	37	9	84607667	84607667	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr9:84607667C>T	ENST00000344803.2	+	4	2329	c.2282C>T	c.(2281-2283)tCa>tTa	p.S761L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	761					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GAGAGGAGCTCAAATATGCTT	0.468																																						ENST00000344803.2																			0											c.(2281-2283)tCa>tTa		SPATA31 subfamily D, member 1							57.0	54.0	55.0					9																	84607667		1842	4082	5924	SO:0001583	missense	389763							g.chr9:84607667C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2282C>T	9.37:g.84607667C>T	ENSP00000341988:p.Ser761Leu						p.S761L	NM_001001670.2	NP_001001670.1					4	2329	+									Missense_Mutation	SNP	ENST00000344803.2	37	c.2282C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417780	0.25552	.	.	ENSG00000214929	ENST00000344803	T	0.05447	3.44	2.85	0.552	0.17230	.	0.540514	0.14053	N	0.344604	T	0.08802	0.0218	M	0.72118	2.19	0.09310	N	1	B	0.24768	0.111	B	0.31191	0.125	T	0.28332	-1.0047	10	0.62326	D	0.03	0.8978	4.6687	0.12678	0.0:0.6005:0.0:0.3995	.	761	Q6ZQQ2	F75D1_HUMAN	L	761	ENSP00000341988:S761L	ENSP00000341988:S761L	S	+	2	0	FAM75D1	83797487	0.009000	0.17119	0.000000	0.03702	0.008000	0.06430	1.495000	0.35627	0.126000	0.18424	0.462000	0.41574	TCA		0.468	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		8	27	0	0	0	1	0	8	27				
SIRPB2	284759	broad.mit.edu	37	20	1457915	1457915	+	Silent	SNP	G	G	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr20:1457915G>T	ENST00000537284.1	-	5	849	c.513C>A	c.(511-513)gtC>gtA	p.V171V	SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000608747.1_5'Flank|SIRPB2_ENST00000444444.2_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	0	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCTTCCCATGACCAAGCCAT	0.567																																						ENST00000537284.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(511-513)gtC>gtA		signal-regulatory protein beta 2							70.0	63.0	65.0					20																	1457915		692	1591	2283	SO:0001819	synonymous_variant	284759					integral to membrane		g.chr20:1457915G>T	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000537284.1:c.513C>A	20.37:g.1457915G>T						SIRPB2_ENST00000444444.1_Intron|SIRPB2_ENST00000359801.3_Intron|SIRPB2_ENST00000381630.1_3'UTR	p.V171V			Q5JXA9	SIRB2_HUMAN			5	849	-			0			Ig-like V-type 2.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000537284.1	37	c.513C>A																																																																																					0.567	SIRPB2-201	KNOWN	basic	protein_coding	protein_coding		NM_178459		16	78	1	0	0.000308642	1	0.000342109	16	78				
CCT8L2	150160	broad.mit.edu	37	22	17072764	17072764	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr22:17072764C>T	ENST00000359963.3	-	1	936	c.677G>A	c.(676-678)gGg>gAg	p.G226E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	226					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACAGAGCTTCCCAGATATTGC	0.607																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(676-678)gGg>gAg		chaperonin containing TCP1, subunit 8 (theta)-like 2							74.0	71.0	72.0					22																	17072764		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072764C>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.677G>A	22.37:g.17072764C>T	ENSP00000353048:p.Gly226Glu						p.G226E	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	936	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	226					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.677G>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	11.30	1.598920	0.28445	.	.	ENSG00000198445	ENST00000359963	T	0.77098	-1.07	1.78	0.625	0.17665	.	0.254272	0.20258	U	0.095931	T	0.66858	0.2832	L	0.44542	1.39	0.09310	N	1	B	0.25563	0.129	B	0.29440	0.102	T	0.59820	-0.7382	10	0.87932	D	0	-5.6643	5.9	0.18962	0.0:0.665:0.335:0.0	.	226	Q96SF2	TCPQM_HUMAN	E	226	ENSP00000353048:G226E	ENSP00000353048:G226E	G	-	2	0	CCT8L2	15452764	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.085000	0.11250	0.070000	0.16634	0.379000	0.24179	GGG		0.607	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			11	44	0	0	0	1	0	11	44				
GRIN2A	2903	broad.mit.edu	37	16	9858512	9858512	+	Silent	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr16:9858512G>A	ENST00000396573.2	-	14	3198	c.2889C>T	c.(2887-2889)ctC>ctT	p.L963L	GRIN2A_ENST00000535259.1_Silent_p.L806L|GRIN2A_ENST00000330684.3_Silent_p.L963L|GRIN2A_ENST00000396575.2_Silent_p.L963L|GRIN2A_ENST00000404927.2_Silent_p.L963L|GRIN2A_ENST00000562109.1_Silent_p.L963L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	963					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAAATGTTTGGAGTTCGTTCA	0.443																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2887-2889)ctC>ctT		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						173.0	151.0	158.0					16																	9858512		2197	4300	6497	SO:0001819	synonymous_variant	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9858512G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2889C>T	16.37:g.9858512G>A						GRIN2A_ENST00000404927.2_Silent_p.L963L|GRIN2A_ENST00000562109.1_Silent_p.L963L|GRIN2A_ENST00000535259.1_Silent_p.L806L|GRIN2A_ENST00000396575.2_Silent_p.L963L|GRIN2A_ENST00000330684.3_Silent_p.L963L	p.L963L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			14	3198	-			963					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.2889C>T	CCDS10539.1																																																																																				0.443	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			27	110	0	0	0	1	0	27	110				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	75	0	0	0	1	0	6	75				
CENPT	80152	broad.mit.edu	37	16	67865131	67865131	+	Silent	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr16:67865131G>A	ENST00000562787.1	-	10	1239	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	CENPT_ENST00000440851.2_Silent_p.L231L|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Silent_p.L231L|CENPT_ENST00000564817.1_Silent_p.L231L|CENPT_ENST00000445712.2_Silent_p.L128L	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	231	Flexible stalk domain. {ECO:0000250}.				chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		GGAGGAGCCAGGGAAGTATCT	0.602																																						ENST00000562787.1																			0				NS(1)|breast(2)|lung(6)|urinary_tract(1)	10						c.(691-693)Ctg>Ttg		centromere protein T							82.0	89.0	87.0					16																	67865131		1974	4168	6142	SO:0001819	synonymous_variant	80152				mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding	g.chr16:67865131G>A	AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.691C>T	16.37:g.67865131G>A						CENPT_ENST00000440851.2_Silent_p.L231L|CENPT_ENST00000564817.1_Silent_p.L231L|CENPT_ENST00000445712.2_Silent_p.L128L|CENPT_ENST00000219172.3_Silent_p.L231L|CENPT_ENST00000562947.1_5'UTR	p.L231L	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)	10	1239	-		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	231					Q96I29|Q96IC6|Q96NK9|Q9H901	Silent	SNP	ENST00000562787.1	37	c.691C>T	CCDS42182.1																																																																																				0.602	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422020.1	NM_025082		4	29	0	0	0	1	0	4	29				
ERBB2	2064	broad.mit.edu	37	17	37884140	37884140	+	Missense_Mutation	SNP	C	C	T	rs373605104		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr17:37884140C>T	ENST00000269571.5	+	27	3770	c.3611C>T	c.(3610-3612)gCc>gTc	p.A1204V	ERBB2_ENST00000445658.2_Missense_Mutation_p.A928V|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Missense_Mutation_p.A1174V|ERBB2_ENST00000406381.2_Missense_Mutation_p.A1174V|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000541774.1_Missense_Mutation_p.A1189V|ERBB2_ENST00000540147.1_Missense_Mutation_p.A1174V|ERBB2_ENST00000584450.1_3'UTR			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1204					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGAGGAGCTGCCCCTCAGCCC	0.622		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		0				NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(3520-3522)gCc>gTc		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						53.0	61.0	58.0					17																	37884140		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37884140C>T	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3611C>T	17.37:g.37884140C>T	ENSP00000269571:p.Ala1204Val	TCGA GBM(5;<1E-08)				ERBB2_ENST00000445658.2_Missense_Mutation_p.A928V|ERBB2_ENST00000540147.1_Missense_Mutation_p.A1174V|ERBB2_ENST00000541774.1_Missense_Mutation_p.A1189V|ERBB2_ENST00000269571.5_Missense_Mutation_p.A1204V|ERBB2_ENST00000584450.1_3'UTR|ERBB2_ENST00000584601.1_Missense_Mutation_p.A1174V	p.A1174V	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	29	4031	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	1204					B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.3521C>T	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	C	2.269	-0.367459	0.05069	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03	4.21	4.21	0.49690	.	.	.	.	.	T	0.25457	0.0619	N	0.25647	0.755	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.001;0.004;0.002	T	0.06197	-1.0840	9	0.05351	T	0.99	.	11.9466	0.52932	0.0:1.0:0.0:0.0	.	928;1189;1204	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	V	1174;1189;928;1204;1174	ENSP00000385185:A1174V;ENSP00000446466:A1189V;ENSP00000404047:A928V;ENSP00000269571:A1204V;ENSP00000443562:A1174V	ENSP00000269571:A1204V	A	+	2	0	ERBB2	35137666	0.006000	0.16342	0.993000	0.49108	0.571000	0.35966	0.219000	0.17641	2.170000	0.68504	0.563000	0.77884	GCC		0.622	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			6	699	0	0	0	1	0	6	699				
TTN	7273	broad.mit.edu	37	2	179469794	179469794	+	Missense_Mutation	SNP	C	C	A	rs541688627		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr2:179469794C>A	ENST00000591111.1	-	230	49411	c.49187G>T	c.(49186-49188)cGg>cTg	p.R16396L	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18037L|TTN_ENST00000342175.6_Missense_Mutation_p.R9164L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15469L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9097L|TTN_ENST00000460472.2_Missense_Mutation_p.R8972L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16396	Ig-like 100.				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)			TTTGTCCTCCCGGACCGCTTT	0.448																																						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.(54109-54111)cGg>cTg		titin							244.0	228.0	233.0					2																	179469794		1923	4124	6047	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469794C>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.49187G>T	2.37:g.179469794C>A	ENSP00000465570:p.Arg16396Leu					TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9097L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9164L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16396L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15469L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R8972L	p.R18037L	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)		280	54334	-			16396					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.54110G>T		.	.	.	.	.	.	.	.	.	.	C	14.24	2.475524	0.43942	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.78	5.78	0.91487	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61451	0.2348	L	0.46614	1.455	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.61510	-0.7048	9	0.87932	D	0	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	8972;9097;9164;16396	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15469;8972;9164;9097;8972	ENSP00000343764:R15469L;ENSP00000434586:R8972L;ENSP00000340554:R9164L;ENSP00000352154:R9097L	ENSP00000340554:R9164L	R	-	2	0	TTN	179178039	1.000000	0.71417	0.225000	0.23894	0.667000	0.39255	7.770000	0.85390	2.744000	0.94065	0.563000	0.77884	CGG		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	128	1	0	3.59834e-05	1	4.087e-05	6	128				
MYRIP	25924	broad.mit.edu	37	3	40231802	40231802	+	Missense_Mutation	SNP	A	A	G			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr3:40231802A>G	ENST00000302541.6	+	10	1855	c.1513A>G	c.(1513-1515)Agg>Ggg	p.R505G	MYRIP_ENST00000444716.1_Missense_Mutation_p.R505G|MYRIP_ENST00000425621.1_Missense_Mutation_p.R505G|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.R318G|MYRIP_ENST00000396217.3_Missense_Mutation_p.R416G	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	505	Actin-binding.|Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTTGGCCAGCAGGGAGACCTC	0.647																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1513-1515)Agg>Ggg		myosin VIIA and Rab interacting protein							63.0	70.0	67.0					3																	40231802		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231802A>G	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1513A>G	3.37:g.40231802A>G	ENSP00000301972:p.Arg505Gly					MYRIP_ENST00000444716.1_Missense_Mutation_p.R505G|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.R416G|MYRIP_ENST00000539167.1_Missense_Mutation_p.R318G|MYRIP_ENST00000425621.1_Missense_Mutation_p.R505G	p.R505G	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1855	+			505			Actin-binding.|Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.1513A>G	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	A	3.834	-0.035135	0.07543	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.19669	2.13;2.13;2.13;2.13;2.13	5.94	-2.93	0.05598	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	1.381220	0.04269	N	0.341634	T	0.12347	0.0300	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.32771	-0.9894	9	.	.	.	.	12.1704	0.54155	0.6991:0.0:0.3009:0.0	.	416;505;505	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	G	505;505;505;416;318	ENSP00000398665:R505G;ENSP00000301972:R505G;ENSP00000389323:R505G;ENSP00000379519:R416G;ENSP00000438297:R318G	.	R	+	1	2	MYRIP	40206806	0.034000	0.19679	0.037000	0.18230	0.354000	0.29330	0.347000	0.20014	-0.412000	0.07519	-0.959000	0.02639	AGG		0.647	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		9	51	0	0	0	1	0	9	51				
LRP2BP	55805	broad.mit.edu	37	4	186299165	186299165	+	Intron	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr4:186299165G>A	ENST00000328559.7	-	1	918				LRP2BP_ENST00000505916.1_Intron|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000510776.1_De_novo_Start_InFrame|LRP2BP_ENST00000362004.3_Intron	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein							cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TTCTTGTCTCGTTTGCTCTAG	0.338																																						ENST00000510776.1																			0				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15								LRP2 binding protein																																				SO:0001627	intron_variant	55805					cytoplasm	protein binding	g.chr4:186299165G>A	AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.106+69C>T	4.37:g.186299165G>A						LRP2BP_ENST00000505916.1_Intron|LRP2BP_ENST00000328559.7_Intron|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000362004.3_Intron				Q9P2M1	LR2BP_HUMAN		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)	0	1007	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)						A6NJR7|A7E219|B3KX83|Q9NSN6	Translation_Start_Site	SNP	ENST00000328559.7	37		CCDS3840.1																																																																																				0.338	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360679.2	NM_018409		3	11	0	0	0	1	0	3	11				
HECTD4	283450	broad.mit.edu	37	12	112622677	112622677	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr12:112622677G>A	ENST00000430131.2	-	60	9972	c.8827C>T	c.(8827-8829)Cgc>Tgc	p.R2943C	HECTD4_ENST00000550722.1_Missense_Mutation_p.R3219C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3193C			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2943					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGAGGTGGCGGAGGATGATG	0.692																																						ENST00000550722.1																			0											c.(9655-9657)Cgc>Tgc		HECT domain containing E3 ubiquitin protein ligase 4							65.0	77.0	73.0					12																	112622677		2199	4295	6494	SO:0001583	missense	283450							g.chr12:112622677G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.8827C>T	12.37:g.112622677G>A	ENSP00000404379:p.Arg2943Cys					HECTD4_ENST00000430131.2_Missense_Mutation_p.R2943C|HECTD4_ENST00000377560.5_Missense_Mutation_p.R3193C	p.R3219C	NM_001109662.3	NP_001103132.3					61	10050	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9655C>T		.	.	.	.	.	.	.	.	.	.	G	19.61	3.859044	0.71834	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.62105	0.06;0.07;0.05	5.81	4.87	0.63330	.	.	.	.	.	T	0.67581	0.2908	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.74023	0.982	T	0.70461	-0.4865	9	0.87932	D	0	.	14.0019	0.64437	0.0:0.0:0.7411:0.2589	.	2943	Q9Y4D8	K0614_HUMAN	C	3193;2943;3219	ENSP00000366783:R3193C;ENSP00000404379:R2943C;ENSP00000449784:R3219C	ENSP00000366783:R3193C	R	-	1	0	C12orf51	111107060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.903000	0.48711	2.753000	0.94483	0.650000	0.86243	CGC		0.692	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		3	51	0	0	0	1	0	3	51				
KRT37	8688	broad.mit.edu	37	17	39579113	39579113	+	Missense_Mutation	SNP	C	C	T	rs149307038		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr17:39579113C>T	ENST00000225550.3	-	3	648	c.649G>A	c.(649-651)Gcg>Acg	p.A217T	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	217	Coil 1B.|Rod.		A -> V (in dbSNP:rs16966811).			extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCCAGGGTCGCGTCATCCAGG	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18812	0.0		0.0	False		,,,				2504	0.0					ENST00000225550.3																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25						c.(649-651)Gcg>Acg		keratin 37		C	THR/ALA	1,4405		0,1,2202	79.0	68.0	72.0		649	-3.4	0.7	17	dbSNP_134	72	0,8600		0,0,4300	yes	missense	KRT37	NM_003770.4	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	217/450	39579113	1,13005	2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39579113C>T	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.649G>A	17.37:g.39579113C>T	ENSP00000225550:p.Ala217Thr					AC003958.2_ENST00000432258.1_RNA	p.A217T	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN			3	648	-		Breast(137;0.000496)	217		A -> V (in dbSNP:rs16966811).	Coil 1B.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.649G>A	CCDS32653.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	11.41	1.631860	0.29068	2.27E-4	0.0	ENSG00000108417	ENST00000225550	D	0.89875	-2.58	4.86	-3.43	0.04810	Filament (1);	1.577570	0.04549	N	0.389541	T	0.72630	0.3484	N	0.04320	-0.23	0.09310	N	1	B	0.20052	0.041	B	0.12837	0.008	T	0.61987	-0.6949	10	0.72032	D	0.01	.	2.3393	0.04255	0.1609:0.1195:0.4085:0.3111	.	217	O76014	KRT37_HUMAN	T	217	ENSP00000225550:A217T	ENSP00000225550:A217T	A	-	1	0	KRT37	36832639	0.000000	0.05858	0.688000	0.30117	0.223000	0.24884	-0.195000	0.09546	-0.135000	0.11495	-0.136000	0.14681	GCG		0.652	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		22	21	0	0	0	1	0	22	21				
TRIM33	51592	broad.mit.edu	37	1	115006111	115006111	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:115006111C>T	ENST00000358465.2	-	3	796	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TRIM33_ENST00000369543.2_Missense_Mutation_p.C238Y|TRIM33_ENST00000450349.2_5'Flank	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	238					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATGTCTTACATAGCCACTC	0.343			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.(712-714)tGt>tAt		tripartite motif containing 33							143.0	132.0	136.0					1																	115006111		2203	4300	6503	SO:0001583	missense	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:115006111C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.713G>A	1.37:g.115006111C>T	ENSP00000351250:p.Cys238Tyr					TRIM33_ENST00000369543.2_Missense_Mutation_p.C238Y	p.C238Y	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	796	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	238					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	c.713G>A	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450340	0.84101	.	.	ENSG00000197323	ENST00000358465;ENST00000369543	D;D	0.99080	-5.4;-5.4	5.67	5.67	0.87782	Zinc finger, RING-type (1);Zinc finger, B-box (3);	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	H	0.95539	3.685	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.994;1.0	D	0.98130	1.0430	10	0.87932	D	0	-7.5756	19.7863	0.96440	0.0:1.0:0.0:0.0	.	238;238	Q9UPN9-2;Q9UPN9	.;TRI33_HUMAN	Y	238	ENSP00000351250:C238Y;ENSP00000358556:C238Y	ENSP00000351250:C238Y	C	-	2	0	TRIM33	114807634	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.700000	0.84556	2.665000	0.90641	0.655000	0.94253	TGT		0.343	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906		29	73	0	0	0	1	0	29	73				
SHANK3	85358	broad.mit.edu	37	22	51143453	51143453	+	Missense_Mutation	SNP	G	G	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr22:51143453G>A	ENST00000414786.2	+	16	2143	c.1916G>A	c.(1915-1917)gGt>gAt	p.G639D	SHANK3_ENST00000445220.2_Missense_Mutation_p.G654D|SHANK3_ENST00000262795.3_Missense_Mutation_p.G669D			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	653	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		ATTCGCCAGGGTGGCAACCGC	0.632																																						ENST00000414786.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8						c.(1915-1917)gGt>gAt		SH3 and multiple ankyrin repeat domains 3							105.0	123.0	117.0					22																	51143453		2182	4276	6458	SO:0001583	missense	85358							g.chr22:51143453G>A	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1916G>A	22.37:g.51143453G>A	ENSP00000464552:p.Gly639Asp					SHANK3_ENST00000445220.2_Missense_Mutation_p.G654D|SHANK3_ENST00000262795.3_Missense_Mutation_p.G669D	p.G639D			F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	16	2143	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	669					D7UT47|Q8TET3	Missense_Mutation	SNP	ENST00000414786.2	37	c.1916G>A		.	.	.	.	.	.	.	.	.	.	G	27.2	4.805742	0.90623	.	.	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.42131	0.98;0.98	4.43	4.43	0.53597	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.61198	0.2328	M	0.64676	1.99	0.40588	D	0.981468	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.66444	-0.5922	9	0.87932	D	0	.	14.5752	0.68240	0.0:0.0:1.0:0.0	.	654;669	Q9BYB0;F2Z3L0	SHAN3_HUMAN;.	D	669;654	ENSP00000442518:G669D;ENSP00000446078:G654D	ENSP00000442518:G669D	G	+	2	0	SHANK3	49490319	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.307000	0.77673	0.591000	0.81541	GGT		0.632	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		12	40	0	0	0	1	0	12	40				
HRG	3273	broad.mit.edu	37	3	186395542	186395542	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr3:186395542C>T	ENST00000232003.4	+	7	1528	c.1448C>T	c.(1447-1449)cCg>cTg	p.P483L		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	483	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TTCCCATTGCCGCACCACAAA	0.488																																						ENST00000232003.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1447-1449)cCg>cTg		histidine-rich glycoprotein							128.0	122.0	124.0					3																	186395542		2203	4300	6503	SO:0001583	missense	3273				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	g.chr3:186395542C>T		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1448C>T	3.37:g.186395542C>T	ENSP00000232003:p.Pro483Leu						p.P483L	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)	7	1528	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		483			His/Pro-rich (HRR).		B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	c.1448C>T	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	C	6.582	0.475741	0.12521	.	.	ENSG00000113905	ENST00000232003	T	0.19669	2.13	4.94	3.12	0.35913	.	0.458597	0.18564	N	0.137526	T	0.18841	0.0452	L	0.60455	1.87	0.09310	N	1	P	0.34800	0.469	B	0.31016	0.123	T	0.17137	-1.0379	10	0.87932	D	0	-0.5707	6.9686	0.24637	0.0:0.7082:0.1943:0.0975	.	483	P04196	HRG_HUMAN	L	483	ENSP00000232003:P483L	ENSP00000232003:P483L	P	+	2	0	HRG	187878236	0.001000	0.12720	0.002000	0.10522	0.036000	0.12997	1.246000	0.32803	0.601000	0.29879	0.555000	0.69702	CCG		0.488	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412		36	58	0	0	0	1	0	36	58				
CAPN13	92291	broad.mit.edu	37	2	30957343	30957343	+	Silent	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr2:30957343C>T	ENST00000295055.8	-	19	1946	c.1770G>A	c.(1768-1770)tcG>tcA	p.S590S	CAPN13_ENST00000534090.2_Silent_p.S590S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	590					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCCACAAGTCCGAGCTCAGGA	0.542																																						ENST00000295055.8																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30						c.(1768-1770)tcG>tcA		calpain 13							77.0	83.0	81.0					2																	30957343		1891	4126	6017	SO:0001819	synonymous_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30957343C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1770G>A	2.37:g.30957343C>T						CAPN13_ENST00000534090.2_Silent_p.S590S	p.S590S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN			19	1946	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		590					Q17RF0|Q580X1|Q8TE80	Silent	SNP	ENST00000295055.8	37	c.1770G>A	CCDS46252.1																																																																																				0.542	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575		3	19	0	0	0	1	0	3	19				
ZNRF4	148066	broad.mit.edu	37	19	5455959	5455959	+	Missense_Mutation	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:5455959C>T	ENST00000222033.4	+	1	534	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	153	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACTGGGCAACCGCTCTCTGGG	0.692																																						ENST00000222033.4																			0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(457-459)Cgc>Tgc		zinc and ring finger 4							29.0	34.0	32.0					19																	5455959		2125	4230	6355	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455959C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.457C>T	19.37:g.5455959C>T	ENSP00000222033:p.Arg153Cys						p.R153C	NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	534	+			153			PA.		A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.457C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	8.541	0.873163	0.17322	.	.	ENSG00000105428	ENST00000222033	T	0.04970	3.52	4.65	-7.22	0.01485	.	0.992853	0.08178	U	0.985923	T	0.01905	0.0060	N	0.02539	-0.55	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46119	-0.9214	10	0.39692	T	0.17	-5.3526	3.8169	0.08819	0.1865:0.2961:0.4193:0.0981	.	153	Q8WWF5	ZNRF4_HUMAN	C	153	ENSP00000222033:R153C	ENSP00000222033:R153C	R	+	1	0	ZNRF4	5406959	0.000000	0.05858	0.051000	0.19133	0.168000	0.22595	-0.591000	0.05753	-0.708000	0.05015	-0.424000	0.05967	CGC		0.692	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		4	36	0	0	0	1	0	4	36				
UFL1	23376	broad.mit.edu	37	6	97000426	97000426	+	Missense_Mutation	SNP	T	T	C			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:97000426T>C	ENST00000369278.4	+	18	2120	c.2054T>C	c.(2053-2055)aTt>aCt	p.I685T		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	685					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CCTGCTCTTATTCTGCACCTC	0.413																																						ENST00000369278.4																			0											c.(2053-2055)aTt>aCt		UFM1-specific ligase 1							162.0	124.0	137.0					6																	97000426		2203	4300	6503	SO:0001583	missense	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:97000426T>C	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.2054T>C	6.37:g.97000426T>C	ENSP00000358283:p.Ile685Thr						p.I685T	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			18	2120	+			685					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	c.2054T>C	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	T	11.96	1.794082	0.31777	.	.	ENSG00000014123	ENST00000369278	T	0.41400	1.0	5.47	3.06	0.35304	.	0.207171	0.49305	N	0.000160	T	0.11196	0.0273	L	0.28274	0.84	0.37050	D	0.897561	B	0.02656	0.0	B	0.04013	0.001	T	0.10497	-1.0627	10	0.14252	T	0.57	-9.5303	9.8455	0.41024	0.0:0.1398:0.0:0.8602	.	685	O94874	UFL1_HUMAN	T	685	ENSP00000358283:I685T	ENSP00000358283:I685T	I	+	2	0	KIAA0776	97107147	1.000000	0.71417	0.905000	0.35620	0.970000	0.65996	4.644000	0.61397	0.457000	0.26962	0.533000	0.62120	ATT		0.413	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		7	40	0	0	0	1	0	7	40				
ITPKC	80271	broad.mit.edu	37	19	41223697	41223697	+	Silent	SNP	T	T	C			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr19:41223697T>C	ENST00000263370.2	+	1	690	c.657T>C	c.(655-657)gcT>gcC	p.A219A	ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	219					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGCCAAGTGCTGATGGCTCCT	0.517																																						ENST00000263370.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14						c.(655-657)gcT>gcC		inositol-trisphosphate 3-kinase C							36.0	39.0	38.0					19																	41223697		2203	4300	6503	SO:0001819	synonymous_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41223697T>C	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.657T>C	19.37:g.41223697T>C							p.A219A	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	690	+			219					Q9UE25|Q9Y475	Silent	SNP	ENST00000263370.2	37	c.657T>C	CCDS12563.1																																																																																				0.517	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		3	20	0	0	0	1	0	3	20				
HDHD2	84064	broad.mit.edu	37	18	44660924	44660924	+	Missense_Mutation	SNP	G	G	A	rs143514214	byFrequency	TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr18:44660924G>A	ENST00000300605.6	-	3	405	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	85			R -> Q (in dbSNP:rs7230131).			extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						ACTTGTTTCCGCTCTAGTAAA	0.383													G|||	5	0.000998403	0.0	0.0	5008	,	,		18031	0.0		0.0	False		,,,				2504	0.0051					ENST00000300605.6																			0				kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						c.(253-255)Cgg>Tgg		haloacid dehalogenase-like hydrolase domain containing 2		G	TRP/ARG	0,4406		0,0,2203	113.0	111.0	111.0		253	3.1	1.0	18	dbSNP_134	111	9,8591	6.4+/-24.3	0,9,4291	yes	missense	HDHD2	NM_032124.4	101	0,9,6494	AA,AG,GG		0.1047,0.0,0.0692	probably-damaging	85/260	44660924	9,12997	2203	4300	6503	SO:0001583	missense	84064						hydrolase activity	g.chr18:44660924G>A	AL136681	CCDS32829.1	18q21.1	2008-02-05				ENSG00000167220			25364	protein-coding gene	gene with protein product						11230166	Standard	NM_032124		Approved	DKFZP564D1378	uc002lcs.3	Q9H0R4		ENST00000300605.6:c.253C>T	18.37:g.44660924G>A	ENSP00000300605:p.Arg85Trp					HDHD2_ENST00000587841.1_Intron	p.R85W	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN			3	405	-			85		R -> Q (in dbSNP:rs7230131).			A8K7T3|Q96NV4	Missense_Mutation	SNP	ENST00000300605.6	37	c.253C>T	CCDS32829.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976218	0.74360	0.0	0.001047	ENSG00000167220	ENST00000300605	T	0.32753	1.44	5.97	3.09	0.35607	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.197776	0.44688	D	0.000433	T	0.33644	0.0870	M	0.64997	1.995	0.26610	N	0.972862	P	0.51057	0.941	B	0.43508	0.422	T	0.35375	-0.9791	10	0.87932	D	0	2.3857	13.2689	0.60150	0.0:0.2363:0.6565:0.1072	.	85	Q9H0R4	HDHD2_HUMAN	W	85	ENSP00000300605:R85W	ENSP00000300605:R85W	R	-	1	2	HDHD2	42914922	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.495000	0.66912	1.527000	0.49086	0.655000	0.94253	CGG		0.383	HDHD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450668.2	NM_032124		3	64	0	0	0	1	0	3	64				
RPL7	6129	broad.mit.edu	37	8	74203464	74203464	+	Missense_Mutation	SNP	C	C	G			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr8:74203464C>G	ENST00000352983.2	-	6	847	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_Missense_Mutation_p.E148Q|RPL7_ENST00000396465.1_Missense_Mutation_p.E148Q|RPL7_ENST00000396467.1_Missense_Mutation_p.E148Q			P18124	RL7_HUMAN	ribosomal protein L7	188					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ATCAAATCCTCCATGCAGATG	0.318																																						ENST00000396467.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(442-444)Gag>Cag		ribosomal protein L7							22.0	23.0	23.0					8																	74203464		2192	4288	6480	SO:0001583	missense	6129				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome	g.chr8:74203464C>G	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.562G>C	8.37:g.74203464C>G	ENSP00000339795:p.Glu188Gln					RPL7_ENST00000396466.1_Missense_Mutation_p.E148Q|RPL7_ENST00000396465.1_Missense_Mutation_p.E148Q|RPL7_ENST00000352983.2_Missense_Mutation_p.E188Q	p.E148Q	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)		6	580	-	Breast(64;0.0954)		188					A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	c.442G>C	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	C	31	5.089389	0.94149	.	.	ENSG00000147604	ENST00000396467;ENST00000352983;ENST00000396466;ENST00000396465	.	.	.	5.57	5.57	0.84162	Ribosomal protein L30, ferredoxin-like fold domain (1);	0.000000	0.85682	U	0.000000	D	0.85522	0.5716	H	0.95611	3.695	0.80722	D	1	D	0.69078	0.997	P	0.56700	0.804	D	0.89881	0.4030	9	0.87932	D	0	.	19.5451	0.95291	0.0:1.0:0.0:0.0	.	188	P18124	RL7_HUMAN	Q	148;188;148;148	.	ENSP00000339795:E188Q	E	-	1	0	RPL7	74366018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.531000	0.81973	2.600000	0.87896	0.655000	0.94253	GAG		0.318	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1	NM_000971		7	16	0	0	0	1	0	7	16				
FBXO4	26272	broad.mit.edu	37	5	41929873	41929873	+	Missense_Mutation	SNP	T	T	G	rs371078455		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr5:41929873T>G	ENST00000281623.3	+	3	556	c.500T>G	c.(499-501)tTt>tGt	p.F167C	FBXO4_ENST00000296812.2_Missense_Mutation_p.F167C|FBXO4_ENST00000509134.1_Missense_Mutation_p.F167C	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	167					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				GTCACTTCTTTTTTACACTCC	0.393																																						ENST00000296812.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27						c.(499-501)tTt>tGt		F-box protein 4							213.0	195.0	201.0					5																	41929873		2203	4300	6503	SO:0001583	missense	26272				positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity	g.chr5:41929873T>G	AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.500T>G	5.37:g.41929873T>G	ENSP00000281623:p.Phe167Cys					FBXO4_ENST00000281623.3_Missense_Mutation_p.F167C|FBXO4_ENST00000509134.1_Missense_Mutation_p.F167C	p.F167C	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN			3	556	+		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)	167					Q68CU8|Q86VT8|Q9UK98	Missense_Mutation	SNP	ENST00000281623.3	37	c.500T>G	CCDS3938.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.666359	0.88251	.	.	ENSG00000151876	ENST00000296812;ENST00000281623;ENST00000509134	T;T;T	0.46819	0.86;0.86;0.86	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.66197	0.2765	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.987	T	0.68926	-0.5280	10	0.87932	D	0	-23.9023	16.0663	0.80878	0.0:0.0:0.0:1.0	.	167;167;167	D6RAJ6;Q9UKT5;Q9UKT5-2	.;FBX4_HUMAN;.	C	167	ENSP00000296812:F167C;ENSP00000281623:F167C;ENSP00000421749:F167C	ENSP00000281623:F167C	F	+	2	0	FBXO4	41965630	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.602000	0.82796	2.196000	0.70406	0.533000	0.62120	TTT		0.393	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			35	88	0	0	0	1	0	35	88				
BTN3A3	10384	broad.mit.edu	37	6	26452087	26452087	+	Silent	SNP	G	G	C			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr6:26452087G>C	ENST00000244519.2	+	11	1446	c.1203G>C	c.(1201-1203)gtG>gtC	p.V401V	BTN3A3_ENST00000361232.3_Silent_p.V352V|BTN3A3_ENST00000339789.4_Silent_p.V359V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	401	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				T cell mediated immunity (GO:0002456)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						AGGTGGAAGTGGGGGACAGAA	0.493																																						ENST00000244519.2																			0				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						c.(1201-1203)gtG>gtC		butyrophilin, subfamily 3, member A3							100.0	96.0	97.0					6																	26452087		2203	4300	6503	SO:0001819	synonymous_variant	10384					integral to membrane		g.chr6:26452087G>C	U90548	CCDS4611.1, CCDS4612.1, CCDS4612.2	6p22.1	2014-01-14			ENSG00000111801	ENSG00000111801		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1140	protein-coding gene	gene with protein product		613595				10354554, 9149941	Standard	NM_006994		Approved	BTF3, BTN3.3	uc003nhz.3	O00478	OTTHUMG00000014451	ENST00000244519.2:c.1203G>C	6.37:g.26452087G>C						BTN3A3_ENST00000361232.3_Silent_p.V352V|BTN3A3_ENST00000339789.4_Silent_p.V359V	p.V401V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN			11	1446	+			401			B30.2/SPRY.		B4DWI7|E9PCP5	Silent	SNP	ENST00000244519.2	37	c.1203G>C	CCDS4611.1																																																																																				0.493	BTN3A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040116.2	NM_006994		5	38	0	0	0	1	0	5	38				
HRNR	388697	broad.mit.edu	37	1	152187070	152187070	+	Silent	SNP	C	C	T			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr1:152187070C>T	ENST00000368801.2	-	3	7110	c.7035G>A	c.(7033-7035)gaG>gaA	p.E2345E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2345					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGAGCTAGACTCGTGGTGAC	0.562																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(7033-7035)gaG>gaA		hornerin							460.0	722.0	634.0					1																	152187070		2184	4297	6481	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187070C>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7035G>A	1.37:g.152187070C>T						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.E2345E	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7110	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2345					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.7035G>A	CCDS30859.1																																																																																				0.562	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		13	1389	0	0	0	1	0	13	1389				
OR52L1	338751	broad.mit.edu	37	11	6007621	6007621	+	Missense_Mutation	SNP	C	C	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:6007621C>A	ENST00000332249.4	-	1	594	c.540G>T	c.(538-540)ttG>ttT	p.L180F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTTTCCCAACAAAATGGGGA	0.493																																					Melanoma(121;653 1666 10547 22796 51255)	ENST00000332249.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30						c.(538-540)ttG>ttT		olfactory receptor, family 52, subfamily L, member 1							105.0	97.0	99.0					11																	6007621		1998	4171	6169	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007621C>A	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.540G>T	11.37:g.6007621C>A	ENSP00000330338:p.Leu180Phe						p.L180F	NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	594	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	180					B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.540G>T	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	7.209	0.594972	0.13875	.	.	ENSG00000183313	ENST00000332249	T	0.00145	8.67	3.73	2.81	0.32909	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34088	N	0.004272	T	0.00328	0.0010	M	0.62088	1.915	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.46775	-0.9167	10	0.72032	D	0.01	.	4.7846	0.13219	0.3339:0.5537:0.0:0.1123	.	180	Q8NGH7	O52L1_HUMAN	F	180	ENSP00000330338:L180F	ENSP00000330338:L180F	L	-	3	2	OR52L1	5964197	0.000000	0.05858	0.027000	0.17364	0.070000	0.16714	-1.391000	0.02525	0.668000	0.31126	0.313000	0.20887	TTG		0.493	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		13	69	1	0	0.0167234	1	0.0176845	13	69				
ASIC1	41	broad.mit.edu	37	12	50472233	50472233	+	Silent	SNP	C	C	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr12:50472233C>A	ENST00000447966.2	+	6	1096	c.867C>A	c.(865-867)acC>acA	p.T289T	ASIC1_ENST00000552438.1_Silent_p.T323T|ASIC1_ENST00000228468.4_Silent_p.T289T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	289					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	CCTGGGGCACCTGCAAAGCTG	0.592																																						ENST00000228468.4																			0											c.(865-867)acC>acA		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						118.0	126.0	123.0					12																	50472233		2203	4300	6503	SO:0001819	synonymous_variant	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50472233C>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.867C>A	12.37:g.50472233C>A						ASIC1_ENST00000552438.1_Silent_p.T323T|ASIC1_ENST00000447966.2_Silent_p.T289T	p.T289T	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN			6	1252	+			289					A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	c.867C>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	9.966	1.224277	0.22457	.	.	ENSG00000110881	ENST00000453327	.	.	.	4.27	3.37	0.38596	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54529	-0.8280	4	.	.	.	-16.6297	8.9293	0.35661	0.1515:0.7647:0.0:0.0839	.	.	.	.	H	157	.	.	P	+	2	0	ACCN2	48758500	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.821000	0.48065	2.372000	0.80975	0.462000	0.41574	CCT		0.592	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	NM_020039		13	49	1	0	4.36969e-10	1	5.02514e-10	13	49				
VIPR1	7433	broad.mit.edu	37	3	42569561	42569561	+	Silent	SNP	C	C	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr3:42569561C>A	ENST00000325123.4	+	6	695	c.582C>A	c.(580-582)atC>atA	p.I194I	VIPR1_ENST00000433647.1_Silent_p.I153I|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000452639.3_RNA|VIPR1_ENST00000543411.1_Silent_p.I146I|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1_ENST00000438259.2_Intron|VIPR1-AS1_ENST00000593621.1_RNA	NM_001251885.1|NM_004624.3	NP_001238814.1|NP_004615.2	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	194					digestion (GO:0007586)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|muscle contraction (GO:0006936)|positive regulation of cell proliferation (GO:0008284)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGTCTTCATCAAAGACTTGG	0.607																																						ENST00000433647.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18						c.(457-459)atC>atA		vasoactive intestinal peptide receptor 1							163.0	141.0	148.0					3																	42569561		2203	4300	6503	SO:0001819	synonymous_variant	7433				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr3:42569561C>A	AH005329	CCDS2698.1, CCDS58827.1, CCDS58828.1, CCDS58829.1	3p22	2012-08-10			ENSG00000114812	ENSG00000114812		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12694	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 1"""	192321				7708752	Standard	NM_004624		Approved	VPAC1, RDC1, HVR1, VPAC1R	uc003clf.2	P32241	OTTHUMG00000131792	ENST00000325123.4:c.582C>A	3.37:g.42569561C>A						VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.I146I|VIPR1_ENST00000438259.2_Intron|VIPR1_ENST00000325123.4_Silent_p.I194I|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA	p.I153I	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	7	1083	+			194					A5JUT9|B3KPV1|B4DEB5|B4DGI4|F5H1F5|G3V0I1|Q15871|Q6P2M6	Silent	SNP	ENST00000325123.4	37	c.459C>A	CCDS2698.1																																																																																				0.607	VIPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254728.4	NM_004624		4	55	1	0	0.150653	1	0.152309	4	55				
AC007563.5	0	broad.mit.edu	37	2	217648266	217648267	+	RNA	INS	-	-	A			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr2:217648266_217648267insA	ENST00000447289.1	+	0	510																											AGAGGACAGAGAAGGGACCAAG	0.505																																						ENST00000447289.1																			0																																																			0							g.chr2:217648266_217648267insA																													2.37:g.217648268_217648268dupA														0	510	+									RNA	INS	ENST00000447289.1	37																																																																																						0.505	AC007563.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000339423.2			2	4						2	4	---	---	---	---
RP11-218D6.4	0	broad.mit.edu	37	10	28293617	28293617	+	lincRNA	DEL	T	T	-			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr10:28293617delT	ENST00000425137.1	+	0	111																											CTGAAGTTCATTGCCAGGACT	0.488																																						ENST00000425137.1																			0																																																			0							g.chr10:28293617delT																													10.37:g.28293617delT														0	111	+									RNA	DEL	ENST00000425137.1	37																																																																																						0.488	RP11-218D6.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047338.2			2	4						2	4	---	---	---	---
FAM99B	100132464	broad.mit.edu	37	11	1706206	1706232	+	RNA	DEL	CCCAGGAGGGAAGGGGGTCCAGGAGGA	CCCAGGAGGGAAGGGGGTCCAGGAGGA	-	rs370303118|rs376034010|rs71025769|rs1715358|rs1715359|rs113543086	byFrequency	TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:1706206_1706232delCCCAGGAGGGAAGGGGGTCCAGGAGGA	ENST00000382166.2	-	0	192					NR_026642.1				family with sequence similarity 99, member B (non-protein coding)																		TCCAGGAGGGCCCAGGAGGGAAGGGGGTCCAGGAGGACAGGGGGTCC	0.722																																						ENST00000382166.2																			0																																																			0							g.chr11:1706206_1706232delCCCAGGAGGGAAGGGGGTCCAGGAGGA	CR627417		11p15.5	2012-10-16	2011-08-31		ENSG00000205865	ENSG00000205865		"""Long non-coding RNAs"""	32369	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 99, member B"""				Standard	NR_026642		Approved	DKFZp781M09150	uc010qxa.1		OTTHUMG00000057552		11.37:g.1706206_1706232delCCCAGGAGGGAAGGGGGTCCAGGAGGA								NR_026642.1						0	192	-									RNA	DEL	ENST00000382166.2	37																																																																																						0.722	FAM99B-001	KNOWN	basic	antisense	antisense	OTTHUMT00000127917.1			3	5						3	5	---	---	---	---
ATM	472	broad.mit.edu	37	11	108143285	108143293	+	In_Frame_Del	DEL	TATTCTCTG	TATTCTCTG	-			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr11:108143285_108143293delTATTCTCTG	ENST00000452508.2	+	22	3293_3301	c.3104_3112delTATTCTCTG	c.(3103-3114)atattctctgta>ata	p.FSV1036del	ATM_ENST00000278616.4_In_Frame_Del_p.FSV1036del			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1036					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGGAAATATATATTCTCTGTAAGAATGGC	0.311			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448	GRCh37	CD031020|CD064490	ATM	D		c.(3103-3114)ata>a	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001651	inframe_deletion	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108143285_108143293delTATTCTCTG	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3104_3112delTATTCTCTG	11.37:g.108143285_108143293delTATTCTCTG	ENSP00000388058:p.Phe1036_Val1038del	TSP Lung(14;0.12)				ATM_ENST00000452508.2_In_Frame_Del_p.IFSV1035del	p.IFSV1035del	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	21	3489_3497	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1035					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	In_Frame_Del	DEL	ENST00000452508.2	37	c.3104_3112delTATTCTCTG	CCDS31669.1																																																																																				0.311	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		25	72						25	72	---	---	---	---
METTL25	84190	broad.mit.edu	37	12	82780736	82780736	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr12:82780736delC	ENST00000248306.3	+	2	483	c.414delC	c.(412-414)aacfs	p.N138fs	METTL25_ENST00000547357.1_3'UTR	NM_032230.2	NP_115606.2	Q8N6Q8	MET25_HUMAN	methyltransferase like 25	138							methyltransferase activity (GO:0008168)										GAAATCAAAACCAGAGAATTG	0.353																																						ENST00000248306.3																			0											c.(412-414)aafs		methyltransferase like 25							115.0	116.0	116.0					12																	82780736		2203	4300	6503	SO:0001589	frameshift_variant	84190							g.chr12:82780736delC	BC029120	CCDS9024.1	12q21.31	2012-08-13	2012-08-13	2012-08-13	ENSG00000127720	ENSG00000127720			26228	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 26"""	C12orf26			Standard	NM_032230		Approved	FLJ22789	uc001szq.3	Q8N6Q8	OTTHUMG00000170252	ENST00000248306.3:c.414delC	12.37:g.82780736delC	ENSP00000248306:p.Asn138fs					METTL25_ENST00000547357.1_3'UTR	p.N138fs	NM_032230.2	NP_115606.2					2	483	+								Q9H5Y3	Frame_Shift_Del	DEL	ENST00000248306.3	37	c.414delC	CCDS9024.1																																																																																				0.353	METTL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408192.1	NM_032230		16	104						16	104	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20086382	20086383	+	RNA	INS	-	-	AAAA	rs202177940		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr14:20086382_20086383insAAAA	ENST00000548261.1	+	0	135																											TCTTACAAGGTAAAAAAAATGA	0.312																																						ENST00000548261.1																			0																																																			0							g.chr14:20086382_20086383insAAAA																													14.37:g.20086387_20086390dupAAAA														0	135	+									RNA	INS	ENST00000548261.1	37																																																																																						0.312	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			4	2						4	2	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101552216	101552218	+	In_Frame_Del	DEL	TGT	TGT	-	rs201450091		TCGA-ZG-A9N3-01A-11D-A41K-08	TCGA-ZG-A9N3-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58adc8fa-3f18-4834-b1b5-d45667de6d78	14a14273-2596-4f11-82ef-cdfa397cb9a3	g.chr15:101552216_101552218delTGT	ENST00000388948.3	+	10	1644_1646	c.1285_1287delTGT	c.(1285-1287)tgtdel	p.C430del	LRRK1_ENST00000284395.5_In_Frame_Del_p.C427del	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCTTAGAAATGTTGTAAAGCTT	0.369																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(1276-1278)del		leucine-rich repeat kinase 1																																				SO:0001651	inframe_deletion	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101552216_101552218delTGT	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1285_1287delTGT	15.37:g.101552219_101552221delTGT	ENSP00000373600:p.Cys430del					LRRK1_ENST00000388948.3_In_Frame_Del_p.C430del	p.C427del			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		11	1676_1678	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		430						In_Frame_Del	DEL	ENST00000388948.3	37	c.1276_1278delTGT	CCDS42086.1																																																																																				0.369	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		13	76						13	76	---	---	---	---
