#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
GJA5	2702	broad.mit.edu	37	1	147230396	147230396	+	Silent	SNP	A	A	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:147230396A>G	ENST00000271348.2	-	2	1112	c.951T>C	c.(949-951)taT>taC	p.Y317Y	GJA5_ENST00000369237.1_Silent_p.Y317Y|RP11-433J22.2_ENST00000428911.1_RNA	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	317					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GCTTCTGGCCATAACGAACCT	0.542																																						uc021ovl.1																			0		p.R316C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20						c.(949-951)taT>taC		Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.							150.0	138.0	142.0					1																	147230396		2203	4300	6503	SO:0001819	synonymous_variant	2702				angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		g.chr1:147230396A>G		CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.951T>C	1.37:g.147230396A>G						GJA5_uc001eps.1_Silent_p.Y317Y|GJA5_uc001ept.1_Silent_p.Y317Y	p.Y317Y	NM_181703	NP_859054	P36382	CXA5_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.202)		0	951	-	all_hematologic(923;0.0276)		317					Q5T3B6|Q5U0N6	Silent	SNP	ENST00000271348.2	37	c.951T>C	CCDS929.1																																																																																				0.542	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039422.2	NM_181703	
KPRP	448834	broad.mit.edu	37	1	152732251	152732251	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:152732251G>A	ENST00000606109.1	+	1	215	c.187G>A	c.(187-189)Gct>Act	p.A63T	KPRP_ENST00000368773.1_Missense_Mutation_p.A63T			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	63	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCAGACCAGGCTCCATGCCA	0.552																																						uc001fal.1																			0				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(187-189)Gct>Act		Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.							170.0	151.0	158.0					1																	152732251		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732251G>A	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.187G>A	1.37:g.152732251G>A	ENSP00000475216:p.Ala63Thr					KPRP_uc021ozf.1_Missense_Mutation_p.A63T	p.A63T	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	245	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		63			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.187G>A	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	G	5.042	0.193426	0.09599	.	.	ENSG00000203786	ENST00000368773	T	0.15952	2.38	5.52	1.24	0.21308	.	0.341140	0.21636	N	0.071420	T	0.04998	0.0134	L	0.52364	1.645	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.34601	-0.9822	10	0.49607	T	0.09	-0.6571	5.9416	0.19196	0.2427:0.0:0.6219:0.1354	.	63	Q5T749	KPRP_HUMAN	T	63	ENSP00000357762:A63T	ENSP00000357762:A63T	A	+	1	0	KPRP	150998875	0.011000	0.17503	0.855000	0.33649	0.012000	0.07955	-0.122000	0.10627	0.108000	0.17862	-0.797000	0.03246	GCT		0.552	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
METTL13	51603	broad.mit.edu	37	1	171765699	171765699	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:171765699C>A	ENST00000361735.3	+	8	2169	c.1903C>A	c.(1903-1905)Ccc>Acc	p.P635T	METTL13_ENST00000458517.1_Missense_Mutation_p.P634T|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Missense_Mutation_p.P549T|METTL13_ENST00000367737.5_Missense_Mutation_p.P479T	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	635							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGCAGTGTTCCCCCTCCTATA	0.498																																						uc001ghz.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(1903-1905)Ccc>Acc		Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.							143.0	128.0	133.0					1																	171765699		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171765699C>A	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.1903C>A	1.37:g.171765699C>A	ENSP00000354920:p.Pro635Thr					METTL13_uc001gia.3_Missense_Mutation_p.P549T|METTL13_uc001gib.3_Missense_Mutation_p.P479T|METTL13_uc010pml.2_Missense_Mutation_p.P634T|METTL13_uc001gic.1_Non-coding_Transcript	p.P635T	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN			7	2250	+			635					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.1903C>A	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436421	0.83885	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.93;1.0;0.984	T	0.78033	-0.2362	10	0.17832	T	0.49	-16.2332	19.635	0.95728	0.0:1.0:0.0:0.0	.	634;479;635	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	T	634;549;479;635;335;332	ENSP00000401955:P634T;ENSP00000355393:P549T;ENSP00000356711:P479T;ENSP00000354920:P635T;ENSP00000356710:P335T	ENSP00000341732:P332T	P	+	1	0	METTL13	170032322	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	4.141000	0.58038	2.733000	0.93635	0.655000	0.94253	CCC		0.498	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955	
TPR	7175	broad.mit.edu	37	1	186289465	186289465	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:186289465C>T	ENST00000367478.4	-	46	6843	c.6547G>A	c.(6547-6549)Ggc>Agc	p.G2183S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2183					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAAGCTGGCCAAGATCAGAG	0.418			T	NTRK1	papillary thyroid																																	uc001grv.3				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123						c.(6547-6549)Ggc>Agc		Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.							95.0	87.0	89.0					1																	186289465		1872	4100	5972	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186289465C>T	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6547G>A	1.37:g.186289465C>T	ENSP00000356448:p.Gly2183Ser					MIR548F1_uc021pgf.1_Intron	p.G2183S	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	45	6844	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	2183					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.6547G>A	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604979	0.87157	.	.	ENSG00000047410	ENST00000367478	T	0.35605	1.3	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	N	0.25647	0.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.23868	-1.0176	10	0.15499	T	0.54	.	19.2507	0.93923	0.0:1.0:0.0:0.0	.	2183	P12270	TPR_HUMAN	S	2183	ENSP00000356448:G2183S	ENSP00000356448:G2183S	G	-	1	0	TPR	184556088	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.076000	0.76806	2.538000	0.85594	0.563000	0.77884	GGC		0.418	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292	
PTEN	5728	broad.mit.edu	37	10	89624299	89624299	+	Missense_Mutation	SNP	T	T	G	rs398123326		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr10:89624299T>G	ENST00000371953.3	+	1	1430	c.73T>G	c.(73-75)Ttg>Gtg	p.L25V	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	25	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(13)|p.D24_L25del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CGACTTAGACTTGACCTGTAT	0.463		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		51	Whole gene deletion(37)|Unknown(13)|Deletion - In frame(1)	p.0?(37)|p.?(13)|p.D24Y(5)|p.D24G(4)|p.D24E(2)|p.D24N(2)|p.L25F(2)|p.D24_L25del(2)|p.D24fs*19(2)|p.D24fs*20(2)|p.L25fs*28(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(73-75)Ttg>Gtg		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							163.0	155.0	158.0					10																	89624299		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89624299T>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.73T>G	10.37:g.89624299T>G	ENSP00000361021:p.Leu25Val	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	p.L25V	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	0	1105	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	25			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.73T>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067259	0.55539	.	.	ENSG00000171862	ENST00000371953	D	0.98747	-5.11	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.164389	0.41605	D	0.000848	D	0.97383	0.9144	M	0.83603	2.65	0.58432	D	0.999999	P	0.36144	0.539	B	0.34991	0.193	D	0.95988	0.8983	9	.	.	.	-0.0822	6.7194	0.23323	0.0:0.1717:0.0:0.8283	.	25	P60484	PTEN_HUMAN	V	25	ENSP00000361021:L25V	.	L	+	1	2	PTEN	89614279	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.055000	0.41345	1.996000	0.58369	0.459000	0.35465	TTG		0.463	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TSPAN32	10077	broad.mit.edu	37	11	2334954	2334954	+	Missense_Mutation	SNP	G	G	A	rs138129469		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:2334954G>A	ENST00000182290.4	+	5	562	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	TSPAN32_ENST00000451520.2_Missense_Mutation_p.R131Q|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.R142Q	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	142					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCCCACGTCCGGCGGCAGGAG	0.647																																						uc001lvy.1																			0				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8						c.(424-426)cGg>cAg		Homo sapiens tetraspanin 32 (TSPAN32), mRNA.		G	GLN/ARG	1,4399		0,1,2199	56.0	35.0	42.0		425	0.5	0.0	11	dbSNP_134	42	3,8591		0,3,4294	yes	missense	TSPAN32	NM_139022.2	43	0,4,6493	AA,AG,GG		0.0349,0.0227,0.0308	benign	142/321	2334954	4,12990	2200	4297	6497	SO:0001583	missense	10077				cell-cell signaling	integral to membrane		g.chr11:2334954G>A	AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.425G>A	11.37:g.2334954G>A	ENSP00000182290:p.Arg142Gln					TSPAN32_uc001lvx.1_Intron|TSPAN32_uc009ydk.1_Missense_Mutation_p.R152Q|TSPAN32_uc010qxk.2_Missense_Mutation_p.R177Q|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwb.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwc.1_Missense_Mutation_p.R87Q|TSPAN32_uc001lwd.1_5'Flank	p.R142Q	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	562	+		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)	142					Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	c.425G>A	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	G	2.733	-0.263992	0.05754	2.27E-4	3.49E-4	ENSG00000064201	ENST00000182290;ENST00000381121;ENST00000451520;ENST00000381117	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	3.61	0.543	0.17179	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	2.728140	0.01433	N	0.014815	T	0.59865	0.2225	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.15930	0.015;0.001;0.014;0.003;0.005	B;B;B;B;B	0.12156	0.007;0.001;0.004;0.002;0.005	T	0.40021	-0.9585	9	.	.	.	0.5283	2.302	0.04164	0.1152:0.1904:0.4986:0.1958	.	129;142;87;142;142	B4DQ90;Q96QS1-5;G3XAG6;Q96QS1-3;Q96QS1	.;.;.;.;TSN32_HUMAN	Q	142;142;131;87	ENSP00000182290:R142Q;ENSP00000370513:R142Q;ENSP00000405205:R131Q;ENSP00000370509:R87Q	.	R	+	2	0	TSPAN32	2291530	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	0.037000	0.13840	-0.126000	0.11682	0.484000	0.47621	CGG		0.647	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2	NM_139024	
OR52R1	119695	broad.mit.edu	37	11	4825512	4825512	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:4825512C>T	ENST00000356069.2	-	1	98	c.99G>A	c.(97-99)ccG>ccA	p.P33P	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Silent_p.P112P	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACAGAACGGAAAGGCAA	0.512																																						uc021qcs.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(97-99)ccG>ccA		Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.							94.0	84.0	87.0					11																	4825512		2201	4298	6499	SO:0001819	synonymous_variant	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4825512C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.99G>A	11.37:g.4825512C>T							p.P33P	NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	0	99	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	33					Q6IFI0	Silent	SNP	ENST00000356069.2	37	c.99G>A	CCDS31360.2																																																																																				0.512	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177	
OR5D14	219436	broad.mit.edu	37	11	55563722	55563722	+	Missense_Mutation	SNP	C	C	T	rs143761060		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:55563722C>T	ENST00000335605.1	+	1	691	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	231						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACTAAAAATCCGTTCTGTTAG	0.473													c|||	1	0.000199681	0.0	0.0	5008	,	,		19218	0.0		0.0	False		,,,				2504	0.001					uc010rim.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(691-693)Cgt>Tgt		Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.		C	CYS/ARG	1,4399	2.1+/-5.4	0,1,2199	145.0	136.0	139.0		691	-3.0	0.0	11	dbSNP_134	139	0,8592		0,0,4296	no	missense	OR5D14	NM_001004735.1	180	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	benign	231/315	55563722	1,12991	2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563722C>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.691C>T	11.37:g.55563722C>T	ENSP00000334456:p.Arg231Cys						p.R231C	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			0	691	+		all_epithelial(135;0.196)	231					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.691C>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	3.663	-0.069147	0.07228	2.27E-4	0.0	ENSG00000186113	ENST00000335605	T	0.40225	1.04	5.08	-2.98	0.05513	GPCR, rhodopsin-like superfamily (1);	1.772610	0.03100	N	0.160945	T	0.38719	0.1051	M	0.64260	1.97	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.39761	-0.9598	10	0.62326	D	0.03	1.9449	4.8726	0.13640	0.3427:0.3694:0.0:0.2879	.	231	Q8NGL3	OR5DE_HUMAN	C	231	ENSP00000334456:R231C	ENSP00000334456:R231C	R	+	1	0	OR5D14	55320298	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.185000	0.09684	-0.340000	0.08388	-0.148000	0.13756	CGT		0.473	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735	
MS4A6E	245802	broad.mit.edu	37	11	60102450	60102450	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60102450G>A	ENST00000300182.4	+	1	147	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	28						integral component of membrane (GO:0016021)		p.E28*(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AGAGAAACCCGAACCCACCAA	0.443																																						uc001npd.3																			1	Substitution - Nonsense(1)	p.E28*(2)	lung(1)	endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						c.(82-84)Gaa>Aaa		Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.							148.0	130.0	136.0					11																	60102450		2203	4300	6503	SO:0001583	missense	245802					integral to membrane	receptor activity	g.chr11:60102450G>A	AF354931	CCDS7984.1	11q12	2008-03-25				ENSG00000166926			14285	protein-coding gene	gene with protein product		608402				11486273	Standard	NM_139249		Approved		uc001npd.3	Q96DS6		ENST00000300182.4:c.82G>A	11.37:g.60102450G>A	ENSP00000300182:p.Glu28Lys						p.E28K	NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN			0	96	+			28					Q3MIL2|Q8NE56|Q96PG4|Q96PG5	Missense_Mutation	SNP	ENST00000300182.4	37	c.82G>A	CCDS7984.1	.	.	.	.	.	.	.	.	.	.	G	9.441	1.088183	0.20390	.	.	ENSG00000166926	ENST00000300182	T	0.09350	2.99	2.4	-4.09	0.03951	.	2.704650	0.01354	N	0.012000	T	0.05823	0.0152	N	0.13098	0.295	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.30937	-0.9961	10	0.22706	T	0.39	.	4.3416	0.11113	0.2879:0.215:0.4971:0.0	.	28	Q96DS6	M4A6E_HUMAN	K	28	ENSP00000300182:E28K	ENSP00000300182:E28K	E	+	1	0	MS4A6E	59859026	0.000000	0.05858	0.003000	0.11579	0.428000	0.31595	-1.468000	0.02350	-0.833000	0.04245	0.305000	0.20034	GAA		0.443	MS4A6E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394296.1		
MS4A14	84689	broad.mit.edu	37	11	60183031	60183031	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60183031C>T	ENST00000300187.6	+	5	867	c.590C>T	c.(589-591)gCa>gTa	p.A197V	MS4A14_ENST00000395005.2_Missense_Mutation_p.A180V|MS4A14_ENST00000531783.1_Missense_Mutation_p.A230V|MS4A14_ENST00000531787.1_Missense_Mutation_p.A85V|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	197						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						ACAACAAATGCACAATCTGTT	0.378																																						uc001npj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						c.(589-591)gCa>gTa		Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.							140.0	136.0	137.0					11																	60183031		2203	4300	6503	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183031C>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.590C>T	11.37:g.60183031C>T	ENSP00000300187:p.Ala197Val					MS4A14_uc001npi.3_Missense_Mutation_p.A85V|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.A180V|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	p.A197V	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			4	1155	+			197					E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.590C>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	C	5.129	0.209433	0.09757	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.06449	4.21;4.21;4.21;3.3	3.63	-6.11	0.02131	.	6.533710	0.00465	N	0.000104	T	0.03739	0.0106	N	0.16478	0.41	0.09310	N	1	B;B	0.18968	0.025;0.032	B;B	0.14578	0.006;0.011	T	0.37430	-0.9706	10	0.15952	T	0.53	0.0672	6.5788	0.22581	0.0:0.3165:0.1279:0.5556	.	180;197	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	V	85;197;180;230	ENSP00000437222:A85V;ENSP00000300187:A197V;ENSP00000378453:A180V;ENSP00000433761:A230V	ENSP00000300187:A197V	A	+	2	0	MS4A14	59939607	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.865000	0.04250	-1.364000	0.02161	-0.355000	0.07637	GCA		0.378	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2		
MS4A12	54860	broad.mit.edu	37	11	60271232	60271232	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60271232T>C	ENST00000016913.4	+	5	587	c.530T>C	c.(529-531)aTt>aCt	p.I177T	MS4A12_ENST00000537076.1_Missense_Mutation_p.I131T	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	177						integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTGGAGTGATTCTGCTGCTG	0.458																																						uc001npr.3																			0				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						c.(529-531)aTt>aCt		Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.							190.0	164.0	173.0					11																	60271232		2203	4300	6503	SO:0001583	missense	54860					integral to membrane	receptor activity	g.chr11:60271232T>C	AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.530T>C	11.37:g.60271232T>C	ENSP00000016913:p.Ile177Thr					MS4A12_uc021qkb.1_Missense_Mutation_p.I131T	p.I177T	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN			4	587	+			177					F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	c.530T>C	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	T	6.520	0.464221	0.12402	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913	T;T;T	0.03124	4.04;4.04;4.04	5.26	2.9	0.33743	.	0.189025	0.44285	D	0.000477	T	0.05686	0.0149	L	0.50919	1.6	0.25646	N	0.986143	P	0.46395	0.877	P	0.47603	0.551	T	0.25187	-1.0139	10	0.46703	T	0.11	-6.1855	5.5821	0.17254	0.0:0.0899:0.1729:0.7372	.	177	Q9NXJ0	M4A12_HUMAN	T	131;131;177	ENSP00000440424:I131T;ENSP00000431959:I131T;ENSP00000016913:I177T	ENSP00000016913:I177T	I	+	2	0	MS4A12	60027808	0.001000	0.12720	0.383000	0.26132	0.023000	0.10783	0.629000	0.24538	0.374000	0.24650	-0.316000	0.08728	ATT		0.458	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1		
PPFIA1	8500	broad.mit.edu	37	11	70181755	70181755	+	Silent	SNP	G	G	A	rs374923538		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:70181755G>A	ENST00000253925.7	+	11	1598	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.R461R	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	461					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTAATGAGAGGCTTCAACTTC	0.403																																						uc001opo.3																			0				breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65						c.(1381-1383)agG>agA		Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.		G	,	3,4397	6.2+/-15.9	0,3,2197	110.0	111.0	111.0		1383,1383	1.1	1.0	11		111	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	PPFIA1	NM_003626.2,NM_177423.1	,	0,3,6491	AA,AG,GG		0.0,0.0682,0.0231	,	461/1203,461/1186	70181755	3,12985	2200	4294	6494	SO:0001819	synonymous_variant	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70181755G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1383G>A	11.37:g.70181755G>A						PPFIA1_uc001opn.2_Silent_p.R461R|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	p.R461R	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		10	1598	+			461					A6NLE3|Q13135|Q14567|Q8N4I2	Silent	SNP	ENST00000253925.7	37	c.1383G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	9.737	1.163893	0.21538	6.82E-4	0.0	ENSG00000131626	ENST00000530798	.	.	.	5.19	1.15	0.20763	.	.	.	.	.	T	0.51975	0.1706	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38286	-0.9668	4	.	.	.	.	5.6246	0.17475	0.2796:0.0:0.5911:0.1293	.	.	.	.	T	13	.	.	A	+	1	0	PPFIA1	69859403	0.999000	0.42202	0.990000	0.47175	0.869000	0.49853	0.575000	0.23729	0.186000	0.20125	0.555000	0.69702	GCT		0.403	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626	
CADM1	23705	broad.mit.edu	37	11	115111056	115111056	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:115111056T>A	ENST00000452722.3	-	2	229	c.209A>T	c.(208-210)gAc>gTc	p.D70V	CADM1_ENST00000537058.1_Missense_Mutation_p.D70V|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.D70V|CADM1_ENST00000542447.2_Missense_Mutation_p.D70V|CADM1_ENST00000331581.6_Missense_Mutation_p.D70V	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CACAGAGTCGTCACTCTTATT	0.443																																						uc001ppi.4																			0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(208-210)gAc>gTc		Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.							106.0	96.0	99.0					11																	115111056		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115111056T>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.209A>T	11.37:g.115111056T>A	ENSP00000395359:p.Asp70Val					CADM1_uc001ppf.4_Missense_Mutation_p.D70V|CADM1_uc001ppk.4_Missense_Mutation_p.D70V|CADM1_uc001ppj.4_Missense_Mutation_p.D70V|CADM1_uc001ppl.3_Missense_Mutation_p.D70V	p.D70V	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	1	338	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	70			Ig-like V-type.			Missense_Mutation	SNP	ENST00000452722.3	37	c.209A>T	CCDS8373.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	25.7|25.7|25.7	4.664501|4.664501|4.664501	0.88251|0.88251|0.88251	.|.|.	.|.|.	ENSG00000182985|ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094|ENST00000543249|ENST00000545380	D;D;D;D;D;D|.|.	0.83419|.|.	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72|.|.	5.97|5.97|5.97	5.97|5.97|5.97	0.96955|0.96955|0.96955	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|.	0.74680|0.74680|.	0.3748|0.3748|.	M|M|M	0.72118|0.72118|0.72118	2.19|2.19|2.19	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;0.998;0.999|.|.	D;D;D;D;D|.|.	0.91635|.|.	0.998;0.999;0.999;0.993;0.998|.|.	T|T|.	0.74225|0.74225|.	-0.3734|-0.3734|.	10|5|.	0.41790|.|.	T|.|.	0.15|.|.	.|.|.	16.4461|16.4461|16.4461	0.83932|0.83932|0.83932	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	70;70;71;70;70|.|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.|.	.;.;.;CADM1_HUMAN;.|.|.	V|S|C	70;70;70;70;29;70;37|54|68	ENSP00000439176:D70V;ENSP00000395359:D70V;ENSP00000439817:D70V;ENSP00000440322:D70V;ENSP00000329797:D70V;ENSP00000439696:D37V|.|.	ENSP00000329797:D70V|.|.	D|T|X	-|-|-	2|1|3	0|0|0	CADM1|CADM1|CADM1	114616266|114616266|114616266	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	7.665000|7.665000|7.665000	0.83852|0.83852|0.83852	2.285000|2.285000|2.285000	0.76669|0.76669|0.76669	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	GAC|ACG|TGA		0.443	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
CHEK1	1111	broad.mit.edu	37	11	125503132	125503132	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:125503132A>T	ENST00000534070.1	+	6	754	c.499A>T	c.(499-501)Atg>Ttg	p.M167L	CHEK1_ENST00000428830.2_Missense_Mutation_p.M167L|CHEK1_ENST00000427383.2_Missense_Mutation_p.M183L|CHEK1_ENST00000524737.1_Missense_Mutation_p.M167L|CHEK1_ENST00000544373.1_Missense_Mutation_p.M167L|CHEK1_ENST00000278916.3_Missense_Mutation_p.M167L|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000438015.1_Missense_Mutation_p.M167L	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	167	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTTGAACAAGATGTGTGGTAC	0.378								Other conserved DNA damage response genes																														uc009zbo.3																			0		p.K166N(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(499-501)Atg>Ttg	Other conserved DNA damage response genes	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.							124.0	122.0	123.0					11																	125503132		2201	4299	6500	SO:0001583	missense	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125503132A>T	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.499A>T	11.37:g.125503132A>T	ENSP00000435371:p.Met167Leu					CHEK1_uc010sbi.2_Missense_Mutation_p.M167L|CHEK1_uc010sbh.2_Missense_Mutation_p.M183L|CHEK1_uc001qcf.4_Missense_Mutation_p.M167L|CHEK1_uc009zbp.3_Missense_Mutation_p.M167L|CHEK1_uc001qcg.4_Missense_Mutation_p.M167L	p.M167L	NM_001114122	NP_001107594	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	5	1396	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	167			Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Missense_Mutation	SNP	ENST00000534070.1	37	c.499A>T	CCDS8459.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.840331	0.51057	.	.	ENSG00000149554	ENST00000438015;ENST00000427383;ENST00000428830;ENST00000544373;ENST00000527013;ENST00000526937;ENST00000534070;ENST00000524737;ENST00000532669;ENST00000278916	T;T;T;T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.67	5.67	0.87782	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050336	0.85682	D	0.000000	T	0.11707	0.0285	N	0.04686	-0.185	0.37949	D	0.932606	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.0;0.0	T	0.19778	-1.0295	10	0.22109	T	0.4	-26.5035	15.5643	0.76277	1.0:0.0:0.0:0.0	.	167;183;167;167	F5H7S4;E7EPP6;B5BTY6;O14757	.;.;.;CHK1_HUMAN	L	167;183;167;167;167;167;167;167;88;167	ENSP00000388648:M167L;ENSP00000391090:M183L;ENSP00000412504:M167L;ENSP00000442317:M167L;ENSP00000431525:M167L;ENSP00000431815:M167L;ENSP00000435371:M167L;ENSP00000432890:M167L;ENSP00000434646:M88L;ENSP00000278916:M167L	ENSP00000278916:M167L	M	+	1	0	CHEK1	125008342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.244000	0.58728	2.157000	0.67596	0.477000	0.44152	ATG		0.378	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274	
PLCZ1	89869	broad.mit.edu	37	12	18836249	18836249	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:18836249C>T	ENST00000538330.1	-	11	1478	c.1097G>A	c.(1096-1098)cGt>cAt	p.R366H	PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000534932.1_Missense_Mutation_p.R65H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R391H|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R582H|PLCZ1_ENST00000266505.7_Missense_Mutation_p.R584H|PLCZ1_ENST00000435379.1_Missense_Mutation_p.R389H					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAGAGGAATACGACGATAACC	0.378																																						uc021qvx.1																			0		p.R584C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(1750-1752)cGt>cAt		Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.							111.0	101.0	105.0					12																	18836249		2203	4300	6503	SO:0001583	missense	89869				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr12:18836249C>T	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.1097G>A	12.37:g.18836249C>T	ENSP00000445880:p.Arg366His					PLCZ1_uc001rdv.4_Missense_Mutation_p.R480H|PLCZ1_uc001rdw.4_Missense_Mutation_p.R325H|PLCZ1_uc001rdu.1_Missense_Mutation_p.R366H|PLCZ1_uc009zil.1_Non-coding_Transcript	p.R584H	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN			14	1942	-	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)		584						Missense_Mutation	SNP	ENST00000538330.1	37	c.1751G>A		.	.	.	.	.	.	.	.	.	.	C	0.049	-1.254820	0.01457	.	.	ENSG00000139151	ENST00000534932;ENST00000538330;ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	T;T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64;2.64	5.34	2.43	0.29744	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.308722	0.33515	N	0.004826	T	0.02571	0.0078	N	0.00611	-1.325	0.32474	N	0.542399	B;B	0.16603	0.006;0.018	B;B	0.08055	0.002;0.003	T	0.37596	-0.9699	10	0.02654	T	1	.	5.0721	0.14611	0.0:0.6269:0.1849:0.1882	.	584;366	Q86YW0;Q8N7S5	PLCZ1_HUMAN;.	H	65;366;584;582;389;391	ENSP00000438826:R65H;ENSP00000445880:R366H;ENSP00000266505:R584H;ENSP00000402358:R582H;ENSP00000400504:R389H;ENSP00000445026:R391H	ENSP00000266505:R584H	R	-	2	0	PLCZ1	18727516	0.074000	0.21230	0.948000	0.38648	0.367000	0.29736	0.376000	0.20535	0.828000	0.34709	-0.140000	0.14226	CGT		0.378	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000401666.3	NM_033123	
OR6C75	390323	broad.mit.edu	37	12	55758922	55758922	+	Frame_Shift_Del	DEL	T	T	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:55758922delT	ENST00000343399.3	+	1	28	c.28delT	c.(28-30)tttfs	p.F10fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGTAACAGACTTTATTCTTCT	0.353																																						uc010spk.2																			0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(28-30)tttfs		Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.							114.0	114.0	114.0					12																	55758922		2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55758922delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.28delT	12.37:g.55758922delT	ENSP00000368987:p.Phe10fs						p.F10fs	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			0	28	+			10						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.28delT	CCDS31820.1																																																																																				0.353	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
EP400	57634	broad.mit.edu	37	12	132491424	132491424	+	Splice_Site	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:132491424T>C	ENST00000333577.4	+	16	3521		c.e16+2		EP400_ENST00000330386.6_Splice_Site|EP400_ENST00000389561.2_Splice_Site|EP400_ENST00000332482.4_Splice_Site|EP400_ENST00000389562.2_Splice_Site			Q96L91	EP400_HUMAN	E1A binding protein p400						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTAACGAAGGTAAGAGTTTGC	0.413																																						uc001ujn.3																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.e15+2		Homo sapiens E1A binding protein p400 (EP400), mRNA.							97.0	99.0	98.0					12																	132491424		2203	4300	6503	SO:0001630	splice_region_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132491424T>C	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3412+2T>C	12.37:g.132491424T>C						EP400_uc021rgq.1_Splice_Site_p.G1101_splice|EP400_uc001ujm.3_Splice_Site_p.G1102_splice	p.G1102_splice	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	15	3456	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1138			Interactions with RUVBL1 and RUVBL2.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Splice_Site	SNP	ENST00000333577.4	37	c.3304_splice		.	.	.	.	.	.	.	.	.	.	T	17.23	3.337534	0.60963	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5812	0.76445	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP400	131057377	1.000000	0.71417	0.984000	0.44739	0.488000	0.33401	8.010000	0.88615	2.072000	0.62099	0.383000	0.25322	.		0.413	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	Intron
MICU2	221154	broad.mit.edu	37	13	22067477	22067477	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr13:22067477T>G	ENST00000382374.4	-	12	1281	c.1216A>C	c.(1216-1218)Agt>Cgt	p.S406R	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	406					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										TCTTGTATACTCTGATGTTGT	0.318																																						uc001uof.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13						c.(1216-1218)Agt>Cgt		Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.							157.0	149.0	152.0					13																	22067477		2202	4297	6499	SO:0001583	missense	221154						calcium ion binding	g.chr13:22067477T>G	AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.1216A>C	13.37:g.22067477T>G	ENSP00000371811:p.Ser406Arg					EFHA1_uc010tct.2_Missense_Mutation_p.S196R	p.S406R	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)	11	1284	-		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)	406					Q8N0T6|Q8NAX8	Missense_Mutation	SNP	ENST00000382374.4	37	c.1216A>C	CCDS9297.1	.	.	.	.	.	.	.	.	.	.	T	11.52	1.663534	0.29515	.	.	ENSG00000165487	ENST00000382374	T	0.43294	0.95	5.92	2.32	0.28847	.	0.172271	0.64402	D	0.000004	T	0.23926	0.0579	N	0.19112	0.55	0.25517	N	0.987407	P	0.42409	0.779	B	0.39299	0.296	T	0.08046	-1.0741	10	0.45353	T	0.12	-8.9776	6.1937	0.20538	0.0:0.3921:0.0:0.6079	.	406	Q8IYU8	EFHA1_HUMAN	R	406	ENSP00000371811:S406R	ENSP00000371811:S406R	S	-	1	0	EFHA1	20965477	0.701000	0.27806	0.005000	0.12908	0.056000	0.15407	2.227000	0.42972	1.063000	0.40649	0.533000	0.62120	AGT		0.318	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144355.1	NM_152726	
MCF2L	23263	broad.mit.edu	37	13	113729315	113729315	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr13:113729315G>T	ENST00000375608.3	+	12	1268	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S	MCF2L_ENST00000434480.2_Missense_Mutation_p.A380S|MCF2L_ENST00000421756.1_Missense_Mutation_p.A378S|MCF2L_ENST00000375604.2_Missense_Mutation_p.A431S|MCF2L_ENST00000397030.1_Missense_Mutation_p.A407S|MCF2L_ENST00000442652.2_Missense_Mutation_p.A404S|MCF2L_ENST00000535094.2_Missense_Mutation_p.A374S|MCF2L_ENST00000375601.3_Missense_Mutation_p.A378S|MCF2L_ENST00000375597.4_Missense_Mutation_p.A372S|MCF2L_ENST00000423482.2_Missense_Mutation_p.A372S			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	404					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCACAGGTGGCCGTGGAGAG	0.647																																						uc001vsu.3																			0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(1291-1293)Gcc>Tcc		Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.							54.0	63.0	60.0					13																	113729315		2203	4300	6503	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113729315G>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.1210G>T	13.37:g.113729315G>T	ENSP00000364758:p.Ala404Ser					MCF2L_uc001vsq.3_Missense_Mutation_p.A431S|MCF2L_uc010tjr.2_Missense_Mutation_p.A374S|MCF2L_uc001vsr.3_Missense_Mutation_p.A378S|MCF2L_uc001vss.4_Missense_Mutation_p.A372S|MCF2L_uc010tjs.2_Missense_Mutation_p.A372S|MCF2L_uc001vst.1_Missense_Mutation_p.A336S	p.A431S	NM_024979	NP_079255	O15068	MCF2L_HUMAN			10	1291	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	404					A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.1291G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.037|1.037	-0.680143|-0.680143	0.03353|0.03353	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017	T;T;T;T;T;T;T;T;T;T|.	0.34667|.	1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35;1.35|.	4.21|4.21	-1.82|-1.82	0.07857|0.07857	.|.	0.743129|.	0.12884|.	N|.	0.431162|.	T|T	0.26991|0.26991	0.0661|0.0661	N|N	0.25144|0.25144	0.715|0.715	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B|.	0.16166|.	0.001;0.0;0.007;0.016;0.0;0.005|.	B;B;B;B;B;B|.	0.18871|.	0.008;0.008;0.013;0.023;0.012;0.023|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|5	0.07482|.	T|.	0.82|.	.|.	8.097|8.097	0.30835|0.30835	0.0:0.2035:0.4003:0.3962|0.0:0.2035:0.4003:0.3962	.|.	372;374;431;336;372;404|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.	.;.;.;.;.;MCF2L_HUMAN|.	S|V	404;404;431;407;374;378;378;380;372;372;215|34	ENSP00000364758:A404S;ENSP00000401422:A404S;ENSP00000364754:A431S;ENSP00000380225:A407S;ENSP00000440374:A374S;ENSP00000397285:A378S;ENSP00000364751:A378S;ENSP00000407722:A380S;ENSP00000405639:A372S;ENSP00000364747:A372S|.	ENSP00000364747:A372S|.	A|G	+|+	1|2	0|0	MCF2L|MCF2L	112777316|112777316	0.006000|0.006000	0.16342|0.16342	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	0.172000|0.172000	0.16704|0.16704	-1.100000|-1.100000	0.03030|0.03030	-1.367000|-1.367000	0.01198|0.01198	GCC|GGC		0.647	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		
KCNK10	54207	broad.mit.edu	37	14	88651963	88651963	+	Silent	SNP	G	G	A	rs75132782	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr14:88651963G>A	ENST00000340700.5	-	7	1984	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	KCNK10_ENST00000312350.5_Silent_p.H516H|KCNK10_ENST00000319231.5_Silent_p.H516H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	511					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCAACTCAGCGTGCTGCTGGA	0.498													G|||	15	0.00299521	0.0	0.0	5008	,	,		19646	0.0129		0.002	False		,,,				2504	0.0					uc001xwm.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						c.(1546-1548)caC>caT		Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.		G	,,	0,4406		0,0,2203	164.0	155.0	158.0		1533,1548,1548	-10.3	0.0	14	dbSNP_132	158	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	,,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,,	511/539,516/544,516/544	88651963	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88651963G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1533C>T	14.37:g.88651963G>A						KCNK10_uc001xwn.3_Silent_p.H516H|KCNK10_uc001xwo.3_Silent_p.H511H	p.H516H	NM_138318	NP_612191	P57789	KCNKA_HUMAN			6	1670	-			511					B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Silent	SNP	ENST00000340700.5	37	c.1548C>T	CCDS9880.1																																																																																				0.498	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	
FMN1	342184	broad.mit.edu	37	15	33359812	33359812	+	Intron	SNP	C	C	T	rs373274569		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:33359812C>T	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.G92R|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.G92R|FMN1_ENST00000559150.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCATCATTTCCGAGGTCAGGT	0.493																																						uc001zhf.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29						c.(274-276)Gga>Aga		Homo sapiens formin 1 (FMN1), mRNA.		C	ARG/GLY	0,3834		0,0,1917	77.0	76.0	76.0		274	0.1	0.0	15		76	1,8293		0,1,4146	no	missense	FMN1	NM_001103184.2	125	0,1,6063	TT,TC,CC		0.0121,0.0,0.0082	benign	92/1197	33359812	1,12127	1917	4147	6064	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33359812C>T	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2537G>A	15.37:g.33359812C>T						FMN1_uc001zhg.2_Missense_Mutation_p.G92R	p.G92R	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	0	274	-		all_lung(180;1.14e-07)	0			Microtubule-binding (By similarity).		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.274G>A		.	.	.	.	.	.	.	.	.	.	C	3.683	-0.065054	0.07273	0.0	1.21E-4	ENSG00000248905	ENST00000334528	T	0.37235	1.21	5.22	0.0865	0.14446	.	.	.	.	.	T	0.24198	0.0586	.	.	.	.	.	.	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.001	T	0.19484	-1.0304	7	0.52906	T	0.07	.	6.1096	0.20094	0.0:0.3651:0.3274:0.3075	.	92;92	Q68DA7-3;Q68DA7-5	.;.	R	92	ENSP00000333950:G92R	ENSP00000333950:G92R	G	-	1	0	FMN1	31147104	0.000000	0.05858	0.003000	0.11579	0.279000	0.26890	-0.386000	0.07370	0.099000	0.17552	-0.137000	0.14449	GGA		0.493	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184	
TGM5	9333	broad.mit.edu	37	15	43544994	43544994	+	Silent	SNP	G	G	A	rs138771869	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:43544994G>A	ENST00000220420.5	-	6	832	c.825C>T	c.(823-825)taC>taT	p.Y275Y	TGM5_ENST00000349114.4_Silent_p.Y193Y	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	275					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGCATTGCCCGTAGCGCACGG	0.587													G|||	4	0.000798722	0.0	0.0	5008	,	,		18050	0.002		0.0	False		,,,				2504	0.002					uc001zrd.2																			0		p.R274C(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(823-825)taC>taT		Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	L-Glutamine(DB00130)	G	,	0,4404		0,0,2202	76.0	73.0	74.0		579,825	-4.3	0.9	15	dbSNP_134	74	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous,coding-synonymous	TGM5	NM_004245.3,NM_201631.3	,	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	,	193/639,275/721	43544994	2,13000	2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43544994G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.825C>T	15.37:g.43544994G>A						TGM5_uc001zre.2_Silent_p.Y193Y	p.Y275Y	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	5	833	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	275					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.825C>T	CCDS32212.1																																																																																				0.587	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245	
LDHAL6B	92483	broad.mit.edu	37	15	59499582	59499582	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:59499582G>T	ENST00000307144.4	+	1	541	c.443G>T	c.(442-444)cGc>cTc	p.R148L	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	148					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						GCAGGTGCACGCCAAGAAAAG	0.438																																						uc002agb.3																			0				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10						c.(442-444)cGc>cTc		Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	NADH(DB00157)						116.0	115.0	116.0					15																	59499582		2191	4290	6481	SO:0001583	missense	92483				glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding	g.chr15:59499582G>T	AY009108	CCDS10171.1	15q21.3	2011-01-27	2004-07-27	2004-07-28	ENSG00000171989	ENSG00000171989			21481	protein-coding gene	gene with protein product			"""lactate dehydrogenase A-like 6"""	LDHAL6		15870898	Standard	NM_033195		Approved	LDHL, LDH6B	uc002agb.4	Q9BYZ2	OTTHUMG00000132714	ENST00000307144.4:c.443G>T	15.37:g.59499582G>T	ENSP00000302393:p.Arg148Leu					MYO1E_uc002aga.3_Intron	p.R148L	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN			0	541	+			148					Q6DUY4|Q96LI2	Missense_Mutation	SNP	ENST00000307144.4	37	c.443G>T	CCDS10171.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.432203	0.62844	.	.	ENSG00000171989	ENST00000307144	D	0.88664	-2.41	1.47	0.433	0.16534	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000003	D	0.85687	0.5754	M	0.81614	2.55	0.58432	D	0.999995	P	0.37548	0.599	B	0.34931	0.192	T	0.79928	-0.1596	10	0.87932	D	0	.	5.8855	0.18878	0.1977:0.0:0.8023:0.0	.	148	Q9BYZ2	LDH6B_HUMAN	L	148	ENSP00000302393:R148L	ENSP00000302393:R148L	R	+	2	0	LDHAL6B	57286874	1.000000	0.71417	0.262000	0.24481	0.585000	0.36419	6.045000	0.71020	-0.067000	0.12976	0.305000	0.20034	CGC		0.438	LDHAL6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256015.1	NM_033195	
ZNF710	374655	broad.mit.edu	37	15	90610585	90610585	+	Silent	SNP	C	C	T	rs372462461		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:90610585C>T	ENST00000268154.4	+	2	467	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	72					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGGCCTGCAACGGGAGGGCCT	0.711													C|||	1	0.000199681	0.0	0.0	5008	,	,		14776	0.0		0.0	False		,,,				2504	0.001					uc002bov.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19						c.(214-216)aaC>aaT		Homo sapiens zinc finger protein 710 (ZNF710), mRNA.		C		0,4376		0,0,2188	19.0	22.0	21.0		216	-0.5	1.0	15		21	2,8576		0,2,4287	no	coding-synonymous	ZNF710	NM_198526.2		0,2,6475	TT,TC,CC		0.0233,0.0,0.0154		72/665	90610585	2,12952	2188	4289	6477	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90610585C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.216C>T	15.37:g.90610585C>T							p.N72N	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		1	339	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		72					A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.216C>T	CCDS10358.1																																																																																				0.711	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526	
C16orf59	80178	broad.mit.edu	37	16	2511144	2511144	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr16:2511144C>G	ENST00000361837.4	+	4	589	c.524C>G	c.(523-525)cCt>cGt	p.P175R	C16orf59_ENST00000483320.1_Missense_Mutation_p.P8R|C16orf59_ENST00000563531.1_Missense_Mutation_p.P175R|RP11-715J22.4_ENST00000566085.1_lincRNA|C16orf59_ENST00000569496.1_Missense_Mutation_p.P175R	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	175										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ACCCCCAGGCCTGGGGCGGGC	0.687																																						uc002cqh.3																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(523-525)cCt>cGt		Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.							12.0	15.0	14.0					16																	2511144		1880	4101	5981	SO:0001583	missense	80178							g.chr16:2511144C>G	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.524C>G	16.37:g.2511144C>G	ENSP00000355022:p.Pro175Arg					C16orf59_uc002cqg.2_Missense_Mutation_p.P8R|C16orf59_uc002cqi.3_Missense_Mutation_p.P8R|C16orf59_uc010uwb.2_Missense_Mutation_p.P8R	p.P175R	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN			3	555	+		Ovarian(90;0.17)	175					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.524C>G	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	C	11.47	1.649370	0.29336	.	.	ENSG00000162062	ENST00000361837	T	0.41758	0.99	4.02	-0.776	0.10984	.	0.677040	0.12972	N	0.424091	T	0.38026	0.1025	L	0.57536	1.79	0.09310	N	1	P;P;P;P	0.47677	0.899;0.899;0.899;0.899	P;P;P;P	0.48840	0.592;0.592;0.592;0.592	T	0.23868	-1.0176	10	0.44086	T	0.13	0.2881	0.8745	0.01221	0.1773:0.365:0.2424:0.2152	.	8;175;8;8	Q7L2K0-3;Q7L2K0;D3DU95;Q7L2K0-2	.;CP059_HUMAN;.;.	R	175	ENSP00000355022:P175R	ENSP00000355022:P175R	P	+	2	0	C16orf59	2451145	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.135000	0.10420	-0.079000	0.12707	0.655000	0.94253	CCT		0.687	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108	
GRIN2A	2903	broad.mit.edu	37	16	9858638	9858638	+	Silent	SNP	A	A	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr16:9858638A>T	ENST00000396573.2	-	14	3072	c.2763T>A	c.(2761-2763)gcT>gcA	p.A921A	GRIN2A_ENST00000396575.2_Silent_p.A921A|GRIN2A_ENST00000404927.2_Silent_p.A921A|GRIN2A_ENST00000330684.3_Silent_p.A921A|GRIN2A_ENST00000535259.1_Silent_p.A764A|GRIN2A_ENST00000562109.1_Silent_p.A921A	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	921					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)	TGAAGTCAGCAGCTCTTTTGG	0.468																																						uc010uym.2																			0		p.R920K(1)		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.(2761-2763)gcT>gcA		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						222.0	194.0	204.0					16																	9858638		2197	4300	6497	SO:0001819	synonymous_variant	2903				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.chr16:9858638A>T		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.2763T>A	16.37:g.9858638A>T						GRIN2A_uc002czo.4_Silent_p.A921A|GRIN2A_uc010uyn.2_Silent_p.A764A|GRIN2A_uc002czr.4_Silent_p.A921A	p.A921A	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN			13	3073	-			921					O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.2763T>A	CCDS10539.1																																																																																				0.468	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
LRRC48	83450	broad.mit.edu	37	17	17910458	17910458	+	Silent	SNP	C	C	T	rs386795956		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr17:17910458C>T	ENST00000399187.1	+	12	1541	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	LRRC48_ENST00000399182.1_Silent_p.R441R|LRRC48_ENST00000313838.8_Silent_p.R441R|LRRC48_ENST00000411504.2_Silent_p.R441R|LRRC48_ENST00000584166.1_Silent_p.R441R	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	441						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACGACCTGCGCGCGGTAGGCG	0.617																																						uc021trj.1																			0				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7						c.(1321-1323)cgC>cgT		Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.																																				SO:0001819	synonymous_variant	83450					cytoplasm		g.chr17:17910458C>T	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.1323C>T	17.37:g.17910458C>T						LRRC48_uc010vxe.2_Silent_p.R441R|LRRC48_uc021tri.1_Silent_p.R441R|LRRC48_uc021trk.1_Silent_p.R441R	p.R441R	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN			12	1702	+	all_neural(463;0.228)		441					A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	ENST00000399187.1	37	c.1323C>T	CCDS45622.1																																																																																				0.617	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294	
CD79B	974	broad.mit.edu	37	17	62007651	62007651	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.S72S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"""Mis, O"""		DLBCL																																	uc002jdp.1				Dom	yes		17	17q23	974	"""Mis, O"""	"""CD79b molecule, immunoglobulin-associated beta"""			L			DLBCL		1	Substitution - coding silent(1)	p.S71S(2)	prostate(1)	breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						c.(214-216)tcC>tcT		Homo sapiens CD79b molecule, immunoglobulin-associated beta (CD79B), transcript variant 3, mRNA.							96.0	83.0	88.0					17																	62007651		2203	4300	6503	SO:0001819	synonymous_variant	974				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	g.chr17:62007651G>A	L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.213C>T	17.37:g.62007651G>A						CD79B_uc002jdq.1_Silent_p.S71S|CD79B_uc002jdr.1_Intron	p.S72S	NM_001039933	NP_001035022	P40259	CD79B_HUMAN			2	299	-			71			Ig-like V-type.		Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	c.216C>T	CCDS11655.1																																																																																				0.567	CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1		
CDH19	28513	broad.mit.edu	37	18	64211976	64211978	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr18:64211976_64211978delCTT	ENST00000540086.1	-	6	1184_1186	c.938_940delAAG	c.(937-942)gaagga>gga	p.E313del	CDH19_ENST00000262150.2_In_Frame_Del_p.E313del	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	421	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATAACTATTCCTTCTTGAGTTTC	0.3																																						uc002lkc.1																			0		p.E313K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(937-942)gaagga>gga		Homo sapiens cadherin 19, type 2 (CDH19), mRNA.																																				SO:0001651	inframe_deletion	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64211976_64211978delCTT	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.938_940delAAG	18.37:g.64211979_64211981delCTT	ENSP00000439593:p.Glu313del					CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_In_Frame_Del_p.E313del|CDH19_uc002lkd.3_In_Frame_Del_p.E313del	p.E313del	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			5	1076_1078	-		Esophageal squamous(42;0.0132)	313			Cadherin 3.		O15098	In_Frame_Del	DEL	ENST00000540086.1	37	c.938_940delAAG	CCDS59325.1																																																																																				0.300	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153	
THEG	51298	broad.mit.edu	37	19	362356	362356	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:362356C>T	ENST00000342640.4	-	8	1026	c.984G>A	c.(982-984)aaG>aaA	p.K328K	THEG_ENST00000346878.2_Silent_p.K304K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	328					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCACCTTCTTGGTGACAT	0.617																																						uc002lol.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29						c.(982-984)aaG>aaA		Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.							113.0	108.0	110.0					19																	362356		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:362356C>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.984G>A	19.37:g.362356C>T						THEG_uc002lom.3_Silent_p.K304K	p.K328K	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1027	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	328					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.984G>A	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.305216	0.23736	.	.	ENSG00000105549	ENST00000530711	.	.	.	3.85	2.78	0.32641	.	.	.	.	.	T	0.55847	0.1946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52472	-0.8571	4	.	.	.	-13.5392	7.4192	0.27063	0.0:0.8752:0.0:0.1248	.	.	.	.	K	106	.	.	R	-	2	0	THEG	313356	0.994000	0.37717	0.997000	0.53966	0.428000	0.31595	0.868000	0.27982	1.982000	0.57802	0.505000	0.49811	AGA		0.617	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		
COL5A3	50509	broad.mit.edu	37	19	10104318	10104318	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:10104318G>T	ENST00000264828.3	-	18	1757	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	558	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCACCAGGCAGCCCAGGGAGG	0.587																																						uc002mmq.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116						c.(1672-1674)Ctg>Atg		Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.							134.0	117.0	123.0					19																	10104318		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10104318G>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.1672C>A	19.37:g.10104318G>T	ENSP00000264828:p.Leu558Met						p.L558M	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		17	1758	-			558			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.1672C>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.426959	0.43122	.	.	ENSG00000080573	ENST00000264828	D	0.93604	-3.25	5.57	1.14	0.20703	.	0.000000	0.64402	D	0.000015	D	0.93119	0.7809	L	0.37630	1.12	0.44366	D	0.99726	D	0.89917	1.0	D	0.87578	0.998	D	0.90512	0.4482	10	0.51188	T	0.08	.	8.5575	0.33489	0.3146:0.0:0.6854:0.0	.	558	P25940	CO5A3_HUMAN	M	558	ENSP00000264828:L558M	ENSP00000264828:L558M	L	-	1	2	COL5A3	9965318	0.915000	0.31059	0.990000	0.47175	0.698000	0.40448	1.009000	0.29886	0.324000	0.23333	0.563000	0.77884	CTG		0.587	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719	
RYR1	6261	broad.mit.edu	37	19	39001381	39001381	+	Missense_Mutation	SNP	G	G	A	rs548280516		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:39001381G>A	ENST00000359596.3	+	60	9082	c.9082G>A	c.(9082-9084)Ggt>Agt	p.G3028S	RYR1_ENST00000355481.4_Missense_Mutation_p.G3028S|RYR1_ENST00000360985.3_Missense_Mutation_p.G3028S			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3028					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCTGGGCAGCGGTGGCCACGC	0.572																																						uc002oit.3																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(9082-9084)Ggt>Agt		Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	Dantrolene(DB01219)						127.0	126.0	126.0					19																	39001381		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39001381G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9082G>A	19.37:g.39001381G>A	ENSP00000352608:p.Gly3028Ser					RYR1_uc002oiu.3_Missense_Mutation_p.G3028S|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	p.G3028S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		59	9212	+	all_cancers(60;7.91e-06)		3028					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.9082G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321299	0.60634	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.65732	-0.17;-0.17;-0.17	4.85	4.85	0.62838	.	0.000000	0.64402	U	0.000002	T	0.44414	0.1292	N	0.13327	0.33	0.47949	D	0.999557	P;P	0.51351	0.944;0.907	P;B	0.44359	0.447;0.261	T	0.32079	-0.9920	10	0.11794	T	0.64	.	12.5785	0.56378	0.0819:0.0:0.9181:0.0	.	3028;3028	P21817-2;P21817	.;RYR1_HUMAN	S	3028	ENSP00000352608:G3028S;ENSP00000347667:G3028S;ENSP00000354254:G3028S	ENSP00000347667:G3028S	G	+	1	0	RYR1	43693221	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	3.128000	0.50492	2.524000	0.85096	0.561000	0.74099	GGT		0.572	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
PRX	57716	broad.mit.edu	37	19	40902416	40902416	+	Missense_Mutation	SNP	C	C	T	rs377037656		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:40902416C>T	ENST00000324001.7	-	7	2113	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	615	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGCACATCGGGCACGGCC	0.552																																						uc002onr.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(1843-1845)Gat>Aat		Homo sapiens periaxin (PRX), transcript variant 2, mRNA.		C	,ASN/ASP	0,4406		0,0,2203	99.0	112.0	108.0		,1843	4.5	0.0	19		108	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,615/1462	40902416	1,13005	2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40902416C>T	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1843G>A	19.37:g.40902416C>T	ENSP00000326018:p.Asp615Asn					PRX_uc002onq.3_Missense_Mutation_p.D476N|PRX_uc002ons.3_3'UTR	p.D615N	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		6	2112	-			615			55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].		Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.1843G>A	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640047	0.47153	0.0	1.16E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.03035	4.07	4.47	4.47	0.54385	.	.	.	.	.	T	0.03095	0.0091	N	0.22421	0.69	0.80722	D	1	P	0.47106	0.89	B	0.39419	0.299	T	0.55218	-0.8175	9	0.52906	T	0.07	-4.9204	10.1478	0.42774	0.0:0.9058:0.0:0.0942	.	615	Q9BXM0	PRAX_HUMAN	N	615	ENSP00000326018:D615N	ENSP00000326018:D615N	D	-	1	0	PRX	45594256	.	.	0.048000	0.18961	0.082000	0.17680	.	.	2.481000	0.83766	0.650000	0.86243	GAT		0.552	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956	
KCNJ3	3760	broad.mit.edu	37	2	155711520	155711520	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:155711520T>A	ENST00000295101.2	+	3	1678	c.1201T>A	c.(1201-1203)Tct>Act	p.S401T	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	401					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAAACTACCATCTAAGCTGCA	0.398																																						uc002tyv.1																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54						c.(1201-1203)Tct>Act		Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	Halothane(DB01159)						97.0	105.0	102.0					2																	155711520		2203	4300	6503	SO:0001583	missense	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155711520T>A	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.1201T>A	2.37:g.155711520T>A	ENSP00000295101:p.Ser401Thr					KCNJ3_uc010zce.1_3'UTR	p.S401T	NM_002239	NP_002230	P48549	IRK3_HUMAN			2	1396	+			401					B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	c.1201T>A	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379624	0.24944	.	.	ENSG00000162989	ENST00000295101	D	0.88975	-2.45	5.86	4.69	0.59074	.	0.500352	0.22978	N	0.053348	T	0.77725	0.4173	N	0.24115	0.695	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66188	-0.5986	10	0.13853	T	0.58	.	6.0367	0.19712	0.1456:0.0759:0.0:0.7784	.	401	P48549	IRK3_HUMAN	T	401	ENSP00000295101:S401T	ENSP00000295101:S401T	S	+	1	0	KCNJ3	155419766	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	1.765000	0.38481	1.024000	0.39682	-0.344000	0.07964	TCT		0.398	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2	NM_002239	
LRP2	4036	broad.mit.edu	37	2	170003375	170003375	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:170003375C>A	ENST00000263816.3	-	69	12970	c.12685G>T	c.(12685-12687)Ggt>Tgt	p.G4229C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4229					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GTTGGCCAACCAAGGTCCTCG	0.448																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(12685-12687)Ggt>Tgt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						110.0	93.0	99.0					2																	170003375		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170003375C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12685G>T	2.37:g.170003375C>A	ENSP00000263816:p.Gly4229Cys						p.G4229C	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	68	12898	-			4229					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12685G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.330239	0.81690	.	.	ENSG00000081479	ENST00000263816	D	0.93547	-3.24	5.38	5.38	0.77491	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97564	1.0100	10	0.39692	T	0.17	.	19.1224	0.93369	0.0:1.0:0.0:0.0	.	4229	P98164	LRP2_HUMAN	C	4229	ENSP00000263816:G4229C	ENSP00000263816:G4229C	G	-	1	0	LRP2	169711621	1.000000	0.71417	0.993000	0.49108	0.680000	0.39746	7.818000	0.86416	2.524000	0.85096	0.561000	0.74099	GGT		0.448	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTC30A	92104	broad.mit.edu	37	2	178482747	178482747	+	Missense_Mutation	SNP	C	C	T	rs576095208		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:178482747C>T	ENST00000355689.5	-	1	947	c.683G>A	c.(682-684)gGc>gAc	p.G228D	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	228					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTGGTCATGCCCACACCTAG	0.527																																						uc002ulo.3																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(682-684)gGc>gAc		Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.							80.0	78.0	79.0					2																	178482747		2203	4300	6503	SO:0001583	missense	92104				cell projection organization	cilium	binding	g.chr2:178482747C>T	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.683G>A	2.37:g.178482747C>T	ENSP00000347915:p.Gly228Asp						p.G228D	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		0	948	-			228					A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	c.683G>A	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.365539	0.82463	.	.	ENSG00000197557	ENST00000355689	T	0.25085	1.82	5.78	5.78	0.91487	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.71902	-0.4452	10	0.87932	D	0	.	20.0827	0.97786	0.0:1.0:0.0:0.0	.	228	Q86WT1	TT30A_HUMAN	D	228	ENSP00000347915:G228D	ENSP00000347915:G228D	G	-	2	0	TTC30A	178190993	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.826000	0.69293	2.755000	0.94549	0.549000	0.68633	GGC		0.527	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275	
MATN4	8785	broad.mit.edu	37	20	43926658	43926658	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr20:43926658G>A	ENST00000372754.1	-	8	1610	c.1602C>T	c.(1600-1602)cgC>cgT	p.R534R	MATN4_ENST00000372756.1_Silent_p.R493R|MATN4_ENST00000342716.4_Silent_p.R493R|MATN4_ENST00000360607.6_Silent_p.R452R|MATN4_ENST00000353917.5_Silent_p.R411R|MATN4_ENST00000372751.4_Silent_p.R344R|MATN4_ENST00000537548.1_Silent_p.R493R			O95460	MATN4_HUMAN	matrilin 4	534	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGCGATCTCGCGCAGCTCCG	0.672																																						uc002xnn.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1477-1479)cgC>cgT		Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.																																				SO:0001819	synonymous_variant	8785					extracellular region	protein binding	g.chr20:43926658G>A	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1602C>T	20.37:g.43926658G>A						MATN4_uc002xnp.2_Silent_p.R411R|MATN4_uc002xno.2_Silent_p.R452R|MATN4_uc010zwr.1_Silent_p.R441R|MATN4_uc002xnr.1_Silent_p.R493R	p.R493R	NM_003833	NP_003824	O95460	MATN4_HUMAN			7	1666	-		Myeloproliferative disorder(115;0.0122)	534			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Silent	SNP	ENST00000372754.1	37	c.1479C>T																																																																																					0.672	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1		
NCOA5	57727	broad.mit.edu	37	20	44693706	44693706	+	Missense_Mutation	SNP	C	C	T	rs150367556		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr20:44693706C>T	ENST00000290231.6	-	6	955	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	264					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGTGCAGGAGCGGTGAATCTG	0.473																																						uc002xrd.3																			0		p.H263L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(790-792)cGc>cAc		Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	254.0	205.0	221.0		791	5.4	1.0	20	dbSNP_134	221	0,8600		0,0,4300	no	missense	NCOA5	NM_020967.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	264/580	44693706	1,13005	2203	4300	6503	SO:0001583	missense	57727				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	g.chr20:44693706C>T		CCDS13392.1	20q12-q13.12	2008-07-02			ENSG00000124160	ENSG00000124160			15909	protein-coding gene	gene with protein product	"""coactivator independent of AF-2"""					11780052, 11113208	Standard	XM_005260474		Approved	bA465L10.6, CIA	uc002xre.3	Q9HCD5	OTTHUMG00000032639	ENST00000290231.6:c.791G>A	20.37:g.44693706C>T	ENSP00000290231:p.Arg264His					NCOA5_uc002xrc.3_Missense_Mutation_p.R152H|NCOA5_uc002xre.3_Missense_Mutation_p.R264H	p.R264H	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN			4	1319	-		Myeloproliferative disorder(115;0.0122)	264					B2RTV9|E1P5R0|Q6HA99|Q9H1F2|Q9H2T2|Q9H4Y9	Missense_Mutation	SNP	ENST00000290231.6	37	c.791G>A	CCDS13392.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746603	0.69418	2.27E-4	0.0	ENSG00000124160	ENST00000290231	T	0.52754	0.65	5.38	5.38	0.77491	Anticodon-binding (2);	0.097898	0.64402	D	0.000001	T	0.64929	0.2643	L	0.53249	1.67	0.58432	D	0.999999	D	0.71674	0.998	D	0.74674	0.984	T	0.62077	-0.6930	10	0.45353	T	0.12	-7.8449	18.3063	0.90182	0.0:1.0:0.0:0.0	.	264	Q9HCD5	NCOA5_HUMAN	H	264	ENSP00000290231:R264H	ENSP00000290231:R264H	R	-	2	0	NCOA5	44127113	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.827000	0.62723	2.804000	0.96469	0.462000	0.41574	CGC		0.473	NCOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079559.1	NM_020967	
COL6A1	1291	broad.mit.edu	37	21	47410308	47410308	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr21:47410308G>A	ENST00000361866.3	+	13	1088	c.974G>A	c.(973-975)cGt>cAt	p.R325H		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	325	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AAGGGCAAGCGTGGCATCGAC	0.657																																						uc002zhu.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(973-975)cGt>cAt		Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	Palifermin(DB00039)						42.0	37.0	39.0					21																	47410308		2201	4298	6499	SO:0001583	missense	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47410308G>A	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.974G>A	21.37:g.47410308G>A	ENSP00000355180:p.Arg325His						p.R325H	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	12	1076	+	all_hematologic(128;0.24)		325			Triple-helical region.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Missense_Mutation	SNP	ENST00000361866.3	37	c.974G>A	CCDS13727.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632346	0.67015	.	.	ENSG00000142156	ENST00000361866;ENST00000538397	D	0.93366	-3.21	4.79	4.79	0.61399	.	0.064410	0.64402	D	0.000015	D	0.95906	0.8667	M	0.70108	2.13	0.51482	D	0.999924	D	0.89917	1.0	D	0.80764	0.994	D	0.94630	0.7821	10	0.24483	T	0.36	-9.5388	16.8324	0.85948	0.0:0.0:1.0:0.0	.	325	P12109	CO6A1_HUMAN	H	325	ENSP00000355180:R325H	ENSP00000355180:R325H	R	+	2	0	COL6A1	46234736	0.997000	0.39634	0.965000	0.40720	0.849000	0.48306	2.519000	0.45546	2.206000	0.71126	0.655000	0.94253	CGT		0.657	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848	
TCF20	6942	broad.mit.edu	37	22	42609517	42609517	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr22:42609517C>A	ENST00000359486.3	-	1	1931	c.1795G>T	c.(1795-1797)Gtt>Ttt	p.V599F	TCF20_ENST00000335626.4_Missense_Mutation_p.V599F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCTCATTAACCTTTGGGTTC	0.542																																						uc003bcj.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(1795-1797)Gtt>Ttt		Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.							83.0	79.0	80.0					22																	42609517		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609517C>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1795G>T	22.37:g.42609517C>A	ENSP00000352463:p.Val599Phe					TCF20_uc003bck.1_Missense_Mutation_p.V599F	p.V599F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			0	1929	-			599					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1795G>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680096	0.68042	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.65549	-0.16;-0.16	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000004	T	0.70937	0.3281	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.70160	-0.4948	10	0.48119	T	0.1	-13.9848	20.8794	0.99867	0.0:1.0:0.0:0.0	.	599;599	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	F	599	ENSP00000352463:V599F;ENSP00000335561:V599F	ENSP00000335561:V599F	V	-	1	0	TCF20	40939461	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.745000	0.55119	2.941000	0.99782	0.655000	0.94253	GTT		0.542	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492	
PLCL2	23228	broad.mit.edu	37	3	17053527	17053527	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:17053527A>G	ENST00000418129.2	+	2	2776	c.2311A>G	c.(2311-2313)Aga>Gga	p.R771G	PLCL2_ENST00000432376.1_Missense_Mutation_p.R771G|PLCL2_ENST00000396755.2_Missense_Mutation_p.R771G	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	897	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCTTTCTGTGAGAAAAGGGAA	0.463																																						uc011awc.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(2665-2667)Aga>Gga		Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.							97.0	101.0	100.0					3																	17053527		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17053527A>G	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2311A>G	3.37:g.17053527A>G	ENSP00000409637:p.Arg771Gly					PLCL2_uc011awd.2_Missense_Mutation_p.R771G	p.R889G	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN			2	2761	+			897					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2665A>G	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.84|18.84	3.709191|3.709191	0.68615|0.68615	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376|ENST00000419842	T;T;T|.	0.19806|.	2.12;2.13;2.12|.	5.53|5.53	1.56|1.56	0.23342|0.23342	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.66346|.	0.2780|.	.|.	.|.	.|.	0.58432|0.58432	D|D	0.999993|0.999993	D|.	0.67145|.	0.996|.	D|.	0.67900|.	0.954|.	T|.	0.61662|.	-0.7017|.	9|.	0.66056|.	D|.	0.02|.	.|.	13.0189|13.0189	0.58775|0.58775	0.6141:0.3859:0.0:0.0|0.6141:0.3859:0.0:0.0	.|.	897|.	Q9UPR0|.	PLCL2_HUMAN|.	G|W	771;898;771;771|514	ENSP00000409637:R771G;ENSP00000379979:R771G;ENSP00000412836:R771G|.	ENSP00000285094:R898G|.	R|X	+|+	1|3	2|0	PLCL2|PLCL2	17028531|17028531	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.997000|0.997000	0.91878|0.91878	1.248000|1.248000	0.32827|0.32827	0.029000|0.029000	0.15352|0.15352	0.402000|0.402000	0.26972|0.26972	AGA|TGA		0.463	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3		
TRAK1	22906	broad.mit.edu	37	3	42167078	42167078	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:42167078G>A	ENST00000327628.5	+	2	658	c.258G>A	c.(256-258)gaG>gaA	p.E86E	TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	86	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCACAACCGAGCAAATTGAAG	0.443																																					GBM(44;195 884 22595 31865 41850)	uc003cky.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(256-258)gaG>gaA		Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.							134.0	125.0	128.0					3																	42167078		1956	4143	6099	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42167078G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.258G>A	3.37:g.42167078G>A						TRAK1_uc011azh.2_Silent_p.E86E|TRAK1_uc011azi.2_Silent_p.E86E	p.E86E	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			1	474	+			86			HAP1 N-terminal.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.258G>A	CCDS43072.1																																																																																				0.443	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
OR5H1	26341	broad.mit.edu	37	3	97852415	97852415	+	Silent	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:97852415C>T	ENST00000354565.2	+	1	874	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	292						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCTACAGTCTGAGAAATAA	0.348																																						uc011bgt.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(874-876)Ctg>Ttg		Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.							80.0	86.0	84.0					3																	97852415		2203	4298	6501	SO:0001819	synonymous_variant	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97852415C>T	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.874C>T	3.37:g.97852415C>T							p.L292L	NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN			0	874	+			292						Silent	SNP	ENST00000354565.2	37	c.874C>T	CCDS33797.1																																																																																				0.348	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338	
OR5K1	26339	broad.mit.edu	37	3	98189045	98189045	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:98189045T>A	ENST00000332650.5	+	1	722	c.625T>A	c.(625-627)Ttt>Att	p.F209I		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTTCAAGTCTTTACCATAGG	0.353																																						uc003dsm.3																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(625-627)Ttt>Att		Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.							165.0	167.0	166.0					3																	98189045		2203	4295	6498	SO:0001583	missense	26339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98189045T>A	X64984	CCDS43115.1	3q11.2	2013-09-23			ENSG00000232382	ENSG00000232382		"""GPCR / Class A : Olfactory receptors"""	8349	protein-coding gene	gene with protein product						1370859	Standard	NM_001004736		Approved	HTPCRX10, HSHTPCRX10	uc003dsm.3	Q8NHB7	OTTHUMG00000160048	ENST00000332650.5:c.625T>A	3.37:g.98189045T>A	ENSP00000373193:p.Phe209Ile						p.F209I	NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN			0	625	+			209					B9EGY5|Q6IF46	Missense_Mutation	SNP	ENST00000332650.5	37	c.625T>A	CCDS43115.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389547	0.61956	.	.	ENSG00000232382	ENST00000332650	T	0.33216	1.42	4.75	4.75	0.60458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000397	T	0.33030	0.0849	N	0.26042	0.785	0.24535	N	0.994094	P	0.49559	0.925	P	0.55161	0.77	T	0.10567	-1.0624	10	0.27785	T	0.31	-18.2437	12.2578	0.54633	0.0:0.0:0.0:1.0	.	209	Q8NHB7	OR5K1_HUMAN	I	209	ENSP00000373193:F209I	ENSP00000373193:F209I	F	+	1	0	OR5K1	99671735	0.000000	0.05858	1.000000	0.80357	0.975000	0.68041	0.019000	0.13444	1.982000	0.57802	0.460000	0.39030	TTT		0.353	OR5K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359019.1		
EHHADH	1962	broad.mit.edu	37	3	184910535	184910535	+	Nonsense_Mutation	SNP	G	G	A	rs138388673	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:184910535G>A	ENST00000231887.3	-	7	1726	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.R455*|EHHADH-AS1_ENST00000417720.1_RNA	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	551	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CCCCTTTTTCGGGCAGGAGTT	0.473													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19525	0.0		0.0	False		,,,				2504	0.001					uc003fpf.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24						c.(1651-1653)Cga>Tga		Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	NADH(DB00157)	G	stop/ARG,stop/ARG	0,4406		0,0,2203	66.0	62.0	64.0		1363,1651	5.0	1.0	3	dbSNP_134	64	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained,stop-gained	EHHADH	NM_001166415.1,NM_001966.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	455/628,551/724	184910535	2,13004	2203	4300	6503	SO:0001587	stop_gained	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910535G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1651C>T	3.37:g.184910535G>A	ENSP00000231887:p.Arg551*					EHHADH_uc011brs.2_Nonsense_Mutation_p.R455*	p.R551*	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		6	1727	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		551			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Nonsense_Mutation	SNP	ENST00000231887.3	37	c.1651C>T	CCDS33901.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	39	7.364506	0.98238	0.0	2.33E-4	ENSG00000113790	ENST00000231887;ENST00000456310	.	.	.	5.91	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.46678	D	0.999157	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6335	14.1489	0.65370	0.0:0.0:0.7271:0.2729	.	.	.	.	X	551;455	.	ENSP00000231887:R551X	R	-	1	2	EHHADH	186393229	1.000000	0.71417	0.995000	0.50966	0.752000	0.42762	4.187000	0.58344	1.483000	0.48342	0.655000	0.94253	CGA		0.473	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1		
MUC4	4585	broad.mit.edu	37	3	195515435	195515435	+	Missense_Mutation	SNP	C	C	T	rs199540819	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:195515435C>T	ENST00000463781.3	-	2	3475	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	MUC4_ENST00000475231.1_Missense_Mutation_p.A1006T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	430	Repeat.|Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A1006T(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAGGGGTGGCGTGACCTGTG	0.582													.|||	29	0.00579073	0.0038	0.0202	5008	,	,		20547	0.002		0.006	False		,,,				2504	0.002					uc021xjp.1																			2	Substitution - Missense(2)	p.A1006T(2)	endometrium(1)|kidney(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3016-3018)Gcc>Acc		Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.							71.0	43.0	51.0					3																	195515435		692	1591	2283	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515435C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3016G>A	3.37:g.195515435C>T	ENSP00000417498:p.Ala1006Thr					MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	p.A1006T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	1	3172	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1008			Repeat.|Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3016G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	T	9.628	1.135729	0.21123	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36699	1.25;1.24	1.24	-2.49	0.06403	.	.	.	.	.	T	0.15305	0.0369	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.01281	0.0	T	0.23154	-1.0196	8	.	.	.	.	2.3206	0.04209	0.2815:0.1916:0.0:0.5269	.	1006	E7ESK3	.	T	1006	ENSP00000417498:A1006T;ENSP00000420243:A1006T	.	A	-	1	0	MUC4	196999830	.	.	0.001000	0.08648	0.173000	0.22820	.	.	-0.641000	0.05487	0.064000	0.15345	GCC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
RGS12	6002	broad.mit.edu	37	4	3319669	3319669	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:3319669C>T	ENST00000344733.5	+	2	2676	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	RGS12_ENST00000543385.1_Missense_Mutation_p.A591V|RGS12_ENST00000336727.3_Missense_Mutation_p.A591V|RGS12_ENST00000382788.3_Missense_Mutation_p.A591V	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	591					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCAGCTTCGCGCAGCCCCCG	0.577																																						uc003ggw.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(1771-1773)gCg>gTg		Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.							78.0	93.0	88.0					4																	3319669		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3319669C>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.1772C>T	4.37:g.3319669C>T	ENSP00000339381:p.Ala591Val					RGS12_uc003ggu.2_Missense_Mutation_p.A591V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.A591V|RGS12_uc003ggx.1_Missense_Mutation_p.A591V	p.A591V	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	1	2676	+			591					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.1772C>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	C	2.438	-0.329174	0.05314	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.30981	1.51;1.61;1.61;1.61	4.83	-0.886	0.10590	.	0.915807	0.09244	N	0.828840	T	0.23806	0.0576	L	0.45581	1.43	0.09310	N	1	B;B;B	0.20550	0.005;0.027;0.046	B;B;B	0.13407	0.002;0.006;0.009	T	0.27297	-1.0078	10	0.44086	T	0.13	-6.3218	6.3471	0.21355	0.0:0.3297:0.3281:0.3422	.	591;591;591	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	V	591	ENSP00000440566:A591V;ENSP00000339381:A591V;ENSP00000338509:A591V;ENSP00000372238:A591V	ENSP00000338509:A591V	A	+	2	0	RGS12	3289467	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.028000	0.12350	-0.125000	0.11703	-0.541000	0.04245	GCG		0.577	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
AFM	173	broad.mit.edu	37	4	74367504	74367504	+	Splice_Site	SNP	G	G	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:74367504G>C	ENST00000226355.3	+	13	1740	c.1647G>C	c.(1645-1647)agG>agC	p.R549S		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	549	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGCCACAGGTTTCTTGTCA	0.388																																						uc003hhb.3																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32						c.e13-1		Homo sapiens afamin (AFM), mRNA.							73.0	72.0	72.0					4																	74367504		2203	4300	6503	SO:0001630	splice_region_variant	173				vitamin transport		vitamin E binding	g.chr4:74367504G>C	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1647-1G>C	4.37:g.74367504G>C							p.R549_splice	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		13	1678	+	Breast(15;0.00102)		549			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1647_splice	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358723	0.41801	.	.	ENSG00000079557	ENST00000226355	T	0.73152	-0.72	4.94	4.09	0.47781	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.409096	0.25494	N	0.030291	T	0.72203	0.3431	L	0.42245	1.32	0.80722	D	1	D	0.57571	0.98	P	0.57846	0.828	T	0.69712	-0.5071	9	.	.	.	.	9.5055	0.39044	0.0989:0.0:0.9011:0.0	.	549	P43652	AFAM_HUMAN	S	549	ENSP00000226355:R549S	.	R	+	3	2	AFM	74586368	0.997000	0.39634	0.993000	0.49108	0.068000	0.16541	0.477000	0.22196	1.211000	0.43351	0.650000	0.86243	AGG		0.388	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2		Missense_Mutation
RXFP1	59350	broad.mit.edu	37	4	159554592	159554592	+	Missense_Mutation	SNP	C	C	T	rs200427299		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:159554592C>T	ENST00000307765.5	+	12	1186	c.935C>T	c.(934-936)cCg>cTg	p.P312L	RXFP1_ENST00000343542.5_Intron|RXFP1_ENST00000460056.2_Missense_Mutation_p.P231L|RXFP1_ENST00000448688.2_Missense_Mutation_p.P207L|RXFP1_ENST00000470033.1_Missense_Mutation_p.P279L	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	312					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATCTTCCACCGCTTATATTC	0.289																																						uc003ipz.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49						c.(934-936)cCg>cTg		Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.		C	LEU/PRO	0,3606		0,0,1803	76.0	75.0	75.0		935	3.9	0.5	4		75	2,8154		0,2,4076	yes	missense	RXFP1	NM_021634.2	98	0,2,5879	TT,TC,CC		0.0245,0.0,0.017	benign	312/758	159554592	2,11760	1803	4078	5881	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159554592C>T	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.935C>T	4.37:g.159554592C>T	ENSP00000303248:p.Pro312Leu					RXFP1_uc010iqj.2_Missense_Mutation_p.P141L|RXFP1_uc010iqk.3_Missense_Mutation_p.P180L|RXFP1_uc011cja.2_Missense_Mutation_p.P207L|RXFP1_uc010iqo.3_Intron|RXFP1_uc011cjb.2_Intron|RXFP1_uc011cjc.2_Missense_Mutation_p.P231L|RXFP1_uc011cjd.2_Missense_Mutation_p.P231L|RXFP1_uc010iql.3_Missense_Mutation_p.P156L|RXFP1_uc011cje.2_Missense_Mutation_p.P339L|RXFP1_uc010iqm.3_Missense_Mutation_p.P279L|RXFP1_uc011cjf.2_Missense_Mutation_p.P182L|RXFP1_uc010iqn.3_Missense_Mutation_p.P258L	p.P312L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	11	1198	+	all_hematologic(180;0.24)	Renal(120;0.0854)	312					B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.935C>T	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074080	0.55646	0.0	2.45E-4	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000470033;ENST00000440678	T;T;T;T	0.60424	0.27;3.41;0.19;3.41	4.74	3.88	0.44766	.	0.172571	0.51477	D	0.000082	T	0.58177	0.2104	M	0.70903	2.155	0.46336	D	0.998998	B;P;B;P;B;P;P;P	0.46327	0.439;0.813;0.16;0.814;0.083;0.846;0.876;0.819	B;B;B;B;B;B;B;B	0.43658	0.072;0.426;0.072;0.3;0.044;0.426;0.412;0.158	T	0.58940	-0.7547	10	0.38643	T	0.18	.	12.0137	0.53301	0.1734:0.8266:0.0:0.0	.	323;339;207;279;231;182;249;312	B3KV27;B4DGP2;B4DHD1;Q9HBX9-2;E9PCA3;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	L	231;312;207;279;182	ENSP00000423306:P231L;ENSP00000303248:P312L;ENSP00000414885:P207L;ENSP00000420712:P279L	ENSP00000303248:P312L	P	+	2	0	RXFP1	159774042	0.429000	0.25530	0.519000	0.27824	0.888000	0.51559	0.781000	0.26774	0.947000	0.37659	0.491000	0.48974	CCG		0.289	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634	
SPOCK3	50859	broad.mit.edu	37	4	167663205	167663205	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:167663205G>T	ENST00000357154.3	-	10	1083	c.946C>A	c.(946-948)Cct>Act	p.P316T	SPOCK3_ENST00000511269.1_Missense_Mutation_p.P313T|SPOCK3_ENST00000506886.1_Missense_Mutation_p.P316T|SPOCK3_ENST00000510741.1_Missense_Mutation_p.P273T|SPOCK3_ENST00000502330.1_Missense_Mutation_p.P316T|SPOCK3_ENST00000357545.4_Missense_Mutation_p.P313T|SPOCK3_ENST00000535728.1_Missense_Mutation_p.P184T|SPOCK3_ENST00000541637.1_Missense_Mutation_p.P218T|SPOCK3_ENST00000541354.1_Missense_Mutation_p.P196T|SPOCK3_ENST00000512681.1_Missense_Mutation_p.P218T|SPOCK3_ENST00000511531.1_Missense_Mutation_p.P316T|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000504953.1_Missense_Mutation_p.P313T|SPOCK3_ENST00000534949.1_Missense_Mutation_p.P220T|SPOCK3_ENST00000421836.2_Missense_Mutation_p.P265T	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	316	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GTCTGGCAAGGTGGGTCTGCA	0.373																																						uc011cjq.1																			0		p.R324L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38						c.(973-975)Cct>Act		Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.							101.0	101.0	101.0					4																	167663205		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167663205G>T	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.946C>A	4.37:g.167663205G>T	ENSP00000349677:p.Pro316Thr					SPOCK3_uc021xuf.1_Missense_Mutation_p.P316T|SPOCK3_uc011cjr.1_Missense_Mutation_p.P196T|SPOCK3_uc003iri.1_Missense_Mutation_p.P316T|SPOCK3_uc011cjs.1_Missense_Mutation_p.P265T|SPOCK3_uc003irj.1_Missense_Mutation_p.P313T|SPOCK3_uc011cjt.1_Missense_Mutation_p.P224T|SPOCK3_uc011cjp.2_Missense_Mutation_p.P273T|SPOCK3_uc011cju.1_Missense_Mutation_p.P220T|SPOCK3_uc011cjv.1_Missense_Mutation_p.P218T	p.P325T	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	7	1030	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	316			Thyroglobulin type-1.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.973C>A	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873175	0.72180	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	5.38	5.38	0.77491	Thyroglobulin type-1 (2);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83170	0.5196	M	0.89214	3.015	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.999;0.999;0.997;0.997;0.994;0.996	D	0.85068	0.0938	10	0.54805	T	0.06	-16.1159	19.4798	0.95005	0.0:0.0:1.0:0.0	.	218;220;265;325;273;313;316	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	T	316;313;313;316;316;316;273;196;218;313;184;265;218;220	ENSP00000349677:P316T;ENSP00000350153:P313T;ENSP00000425570:P313T;ENSP00000420920:P316T;ENSP00000423421:P316T;ENSP00000423606:P316T;ENSP00000426716:P273T;ENSP00000444789:P196T;ENSP00000426318:P218T;ENSP00000425502:P313T;ENSP00000441396:P184T;ENSP00000411344:P265T;ENSP00000445430:P218T;ENSP00000438142:P220T	ENSP00000349677:P316T	P	-	1	0	SPOCK3	167899780	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	8.323000	0.90002	2.668000	0.90789	0.643000	0.83706	CCT		0.373	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
NMUR2	56923	broad.mit.edu	37	5	151775094	151775094	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr5:151775094C>T	ENST00000255262.3	-	3	1028	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	NMUR2_ENST00000518933.1_5'UTR	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	288					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGAAGAGTCGGTCAATGTG	0.483																																						uc003luv.2																			0		p.R288R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44						c.(862-864)cGa>cAa		Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.							156.0	134.0	142.0					5																	151775094		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151775094C>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.863G>A	5.37:g.151775094C>T	ENSP00000255262:p.Arg288Gln						p.R288Q	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		2	1029	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	288					Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.863G>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	36	5.784953	0.96937	.	.	ENSG00000132911	ENST00000255262	T	0.37915	1.17	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.62853	0.2462	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.61884	-0.6971	10	0.51188	T	0.08	-14.9202	19.0512	0.93046	0.0:1.0:0.0:0.0	.	288	Q9GZQ4	NMUR2_HUMAN	Q	288	ENSP00000255262:R288Q	ENSP00000255262:R288Q	R	-	2	0	NMUR2	151755287	1.000000	0.71417	0.534000	0.28014	0.968000	0.65278	7.193000	0.77780	2.735000	0.93741	0.655000	0.94253	CGA		0.483	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
DDAH2	23564	broad.mit.edu	37	6	31696723	31696723	+	Silent	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:31696723T>C	ENST00000375789.2	-	1	846	c.216A>G	c.(214-216)ggA>ggG	p.G72G	DDAH2_ENST00000375792.3_Silent_p.G72G|DDAH2_ENST00000480913.1_Intron|DDAH2_ENST00000375787.2_Silent_p.G72G			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	72					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CAAGCAGCGGTCCCAGCGGCA	0.662																																						uc003nwp.3																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(214-216)ggA>ggG		Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	L-Citrulline(DB00155)						87.0	56.0	67.0					6																	31696723		1511	2708	4219	SO:0001819	synonymous_variant	23564				anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding	g.chr6:31696723T>C	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.216A>G	6.37:g.31696723T>C						DDAH2_uc003nwq.3_Silent_p.G72G	p.G72G	NM_013974	NP_039268	O95865	DDAH2_HUMAN			0	847	-			72					A2BEZ7	Silent	SNP	ENST00000375789.2	37	c.216A>G	CCDS4718.1																																																																																				0.662	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2		
LPA	4018	broad.mit.edu	37	6	161007524	161007524	+	Silent	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:161007524G>T	ENST00000316300.5	-	25	4130	c.4086C>A	c.(4084-4086)ccC>ccA	p.P1362P	LPA_ENST00000447678.1_Silent_p.P1362P			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3870	Kringle 12. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGACCACCGTGGGAGTTGTGA	0.498																																						uc003qtl.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(4084-4086)ccC>ccA		Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	Aminocaproic Acid(DB00513)						128.0	127.0	127.0					6																	161007524		2051	4237	6288	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161007524G>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4086C>A	6.37:g.161007524G>T							p.P1362P	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	25	4206	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3870			Kringle 12.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.4086C>A	CCDS43523.1																																																																																				0.498	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
CCR6	1235	broad.mit.edu	37	6	167549965	167549965	+	Missense_Mutation	SNP	G	G	A	rs76452893		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:167549965G>A	ENST00000341935.5	+	3	799	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	CCR6_ENST00000400926.2_Missense_Mutation_p.V83I|CCR6_ENST00000349984.4_Missense_Mutation_p.V83I|RP11-517H2.6_ENST00000609590.1_RNA	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	83					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|humoral immune response (GO:0006959)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TATGACAGACGTCTATCTCTT	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		21532	0.001		0.0	False		,,,				2504	0.0					uc003qvl.3																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14						c.(247-249)Gtc>Atc		Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.							161.0	161.0	161.0					6																	167549965		2203	4300	6503	SO:0001583	missense	1235				cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity	g.chr6:167549965G>A	U68030	CCDS5298.1	6q27	2012-08-08			ENSG00000112486	ENSG00000112486		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1607	protein-coding gene	gene with protein product		601835		STRL22		8886020	Standard	NM_031409		Approved	CKR-L3, GPR-CY4, CMKBR6, GPR29, DRY-6, DCR2, BN-1, CD196	uc010kkm.3	P51684	OTTHUMG00000016015	ENST00000341935.5:c.247G>A	6.37:g.167549965G>A	ENSP00000343952:p.Val83Ile					CCR6_uc010kkm.3_Missense_Mutation_p.V83I|CCR6_uc003qvn.4_Missense_Mutation_p.V83I|CCR6_uc003qvm.4_Missense_Mutation_p.V83I	p.V83I	NM_031409	NP_113597	P51684	CCR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)	12	2723	+		Breast(66;1.53e-05)|Ovarian(120;0.0606)	83					E1P5C6|P78553|Q92846	Missense_Mutation	SNP	ENST00000341935.5	37	c.247G>A	CCDS5298.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.388	1.074858	0.20227	.	.	ENSG00000112486	ENST00000400926;ENST00000341935;ENST00000349984	T;T;T	0.70749	-0.51;-0.51;-0.51	4.87	3.08	0.35506	GPCR, rhodopsin-like superfamily (1);	0.198261	0.31797	U	0.007047	T	0.49423	0.1556	L	0.38838	1.175	0.43334	D	0.995371	D	0.60160	0.987	P	0.55222	0.771	T	0.56745	-0.7928	10	0.05959	T	0.93	.	10.1064	0.42535	0.1637:0.0:0.8363:0.0	.	83	P51684	CCR6_HUMAN	I	83	ENSP00000383715:V83I;ENSP00000343952:V83I;ENSP00000339393:V83I	ENSP00000343952:V83I	V	+	1	0	CCR6	167469955	0.951000	0.32395	0.021000	0.16686	0.062000	0.15995	1.479000	0.35453	0.462000	0.27095	-0.258000	0.10820	GTC		0.488	CCR6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043118.1		
USP42	84132	broad.mit.edu	37	7	6189342	6189342	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:6189342G>T	ENST00000306177.5	+	13	1673	c.1515G>T	c.(1513-1515)tgG>tgT	p.W505C		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	505					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCCAAAACTGGTCAGTTAATA	0.443																																						uc011jwo.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1513-1515)tgG>tgT		Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.							118.0	113.0	114.0					7																	6189342		1907	4126	6033	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189342G>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.1515G>T	7.37:g.6189342G>T	ENSP00000301962:p.Trp505Cys					USP42_uc010kth.1_Missense_Mutation_p.W438C|USP42_uc011jwp.2_Missense_Mutation_p.W505C|USP42_uc011jwq.2_Missense_Mutation_p.W312C|USP42_uc011jwr.1_Missense_Mutation_p.W350C	p.W505C	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	12	1638	+		Ovarian(82;0.0423)	505					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.1515G>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993855	0.74703	.	.	ENSG00000106346	ENST00000306177;ENST00000465073;ENST00000426246	T;T;T	0.15834	2.39;3.12;2.81	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000003	T	0.42177	0.1191	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	P;D;D;D	0.69824	0.891;0.966;0.926;0.926	T	0.05835	-1.0861	10	0.54805	T	0.06	.	18.5139	0.90928	0.0:0.0:1.0:0.0	.	468;505;505;505	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	C	505;438;351	ENSP00000301962:W505C;ENSP00000430568:W438C;ENSP00000408217:W351C	ENSP00000301962:W505C	W	+	3	0	USP42	6155868	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.942000	0.56614	2.818000	0.97014	0.591000	0.81541	TGG		0.443	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
SKAP2	8935	broad.mit.edu	37	7	26779515	26779515	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:26779515G>A	ENST00000345317.2	-	5	689	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	126	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R126C(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CCTTTTCTGCGTTTTTCAAGG	0.373																																						uc003syc.3																			1	Substitution - Missense(1)	p.R126C(2)	skin(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						c.(376-378)Cgc>Tgc		Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.							74.0	70.0	71.0					7																	26779515		2203	4300	6503	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26779515G>A		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.376C>T	7.37:g.26779515G>A	ENSP00000005587:p.Arg126Cys					SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.R111C	p.R126C	NM_003930	NP_003921	O75563	SKAP2_HUMAN			4	669	-			126			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.376C>T	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058233	0.76074	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.14391	2.51;2.51	5.81	5.81	0.92471	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.06391	-1.0829	10	0.87932	D	0	-25.7679	17.008	0.86398	0.0:0.0:1.0:0.0	.	111;126	B7Z5N4;O75563	.;SKAP2_HUMAN	C	126;111;111	ENSP00000005587:R126C;ENSP00000408163:R111C	ENSP00000005587:R126C	R	-	1	0	SKAP2	26746040	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.504000	0.66968	2.746000	0.94184	0.591000	0.81541	CGC		0.373	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1		
EGFR	1956	broad.mit.edu	37	7	55233110	55233110	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:55233110C>G	ENST00000275493.2	+	15	2037	c.1860C>G	c.(1858-1860)tgC>tgG	p.C620W	EGFR_ENST00000442591.1_Missense_Mutation_p.C620W|EGFR_ENST00000454757.2_Missense_Mutation_p.C567W|EGFR_ENST00000455089.1_Missense_Mutation_p.C575W|EGFR_ENST00000342916.3_Missense_Mutation_p.C620W|EGFR_ENST00000344576.2_Missense_Mutation_p.C620W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	620					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.C620W(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCCACCTGTGCCATCCAAACT	0.542		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.C620W(2)|p.C620Y(1)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1858-1860)tgC>tgG		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						68.0	62.0	64.0					7																	55233110		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233110C>G		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1860C>G	7.37:g.55233110C>G	ENSP00000275493:p.Cys620Trp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.C620W|EGFR_uc003tqj.3_Missense_Mutation_p.C620W|EGFR_uc022adm.1_Missense_Mutation_p.C620W|EGFR_uc010kzg.2_Missense_Mutation_p.C575W|EGFR_uc022adn.1_Missense_Mutation_p.C575W|EGFR_uc011kco.2_Missense_Mutation_p.C567W|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.C620W	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2106	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		620					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1860C>G	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005590	0.54254	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0;0.0	5.87	4.07	0.47477	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.84561	0.5499	H	0.97874	4.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.999;1.0;1.0	D	0.86868	0.2034	10	0.87932	D	0	.	8.3815	0.32474	0.0:0.7659:0.0:0.2341	.	575;620;620;620	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	W	575;620;490;620;620;620;567;414	ENSP00000415559:C575W;ENSP00000342376:C620W;ENSP00000345973:C620W;ENSP00000275493:C620W;ENSP00000410031:C620W;ENSP00000395243:C567W	ENSP00000275493:C620W	C	+	3	2	EGFR	55200604	1.000000	0.71417	0.998000	0.56505	0.631000	0.37964	2.137000	0.42130	1.501000	0.48654	-0.136000	0.14681	TGC		0.542	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CCDC132	55610	broad.mit.edu	37	7	92932809	92932809	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:92932809G>C	ENST00000305866.5	+	17	1527	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	CCDC132_ENST00000541136.1_Missense_Mutation_p.E278Q|CCDC132_ENST00000317751.6_Missense_Mutation_p.E198Q|CCDC132_ENST00000544910.1_Missense_Mutation_p.E437Q|CCDC132_ENST00000535481.1_Missense_Mutation_p.E187Q	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	467						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTAGAGAATGAGACTTGGGA	0.343																																						uc003umo.3																			0				endometrium(1)|large_intestine(2)|lung(5)	8						c.(1399-1401)Gag>Cag		Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.							135.0	130.0	132.0					7																	92932809		1824	4082	5906	SO:0001583	missense	55610							g.chr7:92932809G>C	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.1399G>C	7.37:g.92932809G>C	ENSP00000307666:p.Glu467Gln					CCDC132_uc003ump.3_Missense_Mutation_p.E437Q|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.E187Q	p.E467Q	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		16	1527	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		467					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.1399G>C	CCDS43617.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.861774|4.861774	0.91433|0.91433	.|.	.|.	ENSG00000004766|ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481;ENST00000317751|ENST00000458707	T|.	0.71461|.	-0.57|.	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78799|0.78799	0.4340|0.4340	M|M	0.81341|0.81341	2.54|2.54	0.80722|0.80722	D|D	1|1	D;D;D|.	0.61080|.	0.981;0.989;0.981|.	D;D;D|.	0.72982|.	0.954;0.979;0.954|.	T|T	0.79624|0.79624	-0.1726|-0.1726	10|5	0.72032|.	D|.	0.01|.	-15.597|-15.597	18.7132|18.7132	0.91666|0.91666	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	187;437;467|.	B4DS55;F5H5U7;Q96JG6|.	.;.;CC132_HUMAN|.	Q|I	467;437;278;187;198|253	ENSP00000325582:E198Q|.	ENSP00000307666:E467Q|.	E|M	+|+	1|3	0|0	CCDC132|CCDC132	92770745|92770745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.730000|7.730000	0.84881|0.84881	2.724000|2.724000	0.93272|0.93272	0.563000|0.563000	0.77884|0.77884	GAG|ATG		0.343	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
TRRAP	8295	broad.mit.edu	37	7	98547126	98547126	+	Silent	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:98547126G>A	ENST00000359863.4	+	35	5063	c.4854G>A	c.(4852-4854)ggG>ggA	p.G1618G	TRRAP_ENST00000355540.3_Silent_p.G1600G|TRRAP_ENST00000446306.3_Silent_p.G1599G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1618					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTGCCGGGGGGTGCCCAGA	0.617																																						uc003upp.3																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(4852-4854)ggG>ggA		Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.							29.0	34.0	32.0					7																	98547126		2203	4299	6502	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98547126G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4854G>A	7.37:g.98547126G>A						TRRAP_uc011kis.2_Silent_p.G1600G|TRRAP_uc003upr.3_Silent_p.G1317G	p.G1618G	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		34	5063	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1618					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.4854G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	0.532	-0.857551	0.02630	.	.	ENSG00000196367	ENST00000456197	T	0.02863	4.13	5.97	-11.9	0.00025	.	0.174238	0.50627	D	0.000113	T	0.02119	0.0066	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56890	-0.7904	7	0.10636	T	0.68	.	13.2265	0.59916	0.0:0.4432:0.324:0.2328	.	.	.	.	E	1340	ENSP00000394645:G1340E	ENSP00000394645:G1340E	G	+	2	0	TRRAP	98385062	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.891000	0.01611	-3.864000	0.00097	-0.188000	0.12872	GGG		0.617	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
CUL1	8454	broad.mit.edu	37	7	148495685	148495685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:148495685delC	ENST00000325222.4	+	20	2331	c.2052delC	c.(2050-2052)atcfs	p.I684fs	CUL1_ENST00000602748.1_Frame_Shift_Del_p.I684fs|CUL1_ENST00000409469.1_Frame_Shift_Del_p.I684fs	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	684					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGGTTAACATCAATGTGCCAA	0.373																																						uc010lpg.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(2050-2052)atcfs		Homo sapiens cullin 1 (CUL1), mRNA.							166.0	153.0	157.0					7																	148495685		2203	4300	6503	SO:0001589	frameshift_variant	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148495685delC	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.2052delC	7.37:g.148495685delC	ENSP00000326804:p.Ile684fs					CUL1_uc003wey.3_Frame_Shift_Del_p.I684fs|CUL1_uc003wez.3_Frame_Shift_Del_p.I574fs|CUL1_uc003wfa.3_Frame_Shift_Del_p.I345fs	p.I684fs	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		19	2578	+	Melanoma(164;0.15)		684					D3DWG3|O60719|Q08AL6|Q8IYW1	Frame_Shift_Del	DEL	ENST00000325222.4	37	c.2052delC	CCDS34772.1																																																																																				0.373	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592	
SOX7	83595	broad.mit.edu	37	8	10583718	10583718	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:10583718G>A	ENST00000304501.1	-	2	775	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	SOX7_ENST00000554914.1_Missense_Mutation_p.R285C|SOX7_ENST00000553390.1_Missense_Mutation_p.R285C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	233					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TGGGGGATGCGGCGGGGATGG	0.692																																						uc011kwz.2																			0		p.S285F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(853-855)Cgc>Tgc		Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.							23.0	30.0	28.0					8																	10583718		2184	4251	6435	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10583718G>A	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.697C>T	8.37:g.10583718G>A	ENSP00000301921:p.Arg233Cys					SOX7_uc003wtf.3_Missense_Mutation_p.R233C	p.R285C	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	5	886	-			233			Sox C-terminal.		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.853C>T	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	G	6.192	0.403646	0.11754	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.99470	-5.0;-5.96;-5.96	4.89	4.01	0.46588	.	0.331371	0.27936	N	0.017242	D	0.95020	0.8388	N	0.00991	-1.07	0.33861	D	0.633812	B;B	0.14012	0.009;0.004	B;B	0.12156	0.002;0.007	D	0.94335	0.7565	10	0.38643	T	0.18	.	9.4745	0.38862	0.1004:0.0:0.8996:0.0	.	285;233	B4DKV0;Q9BT81	.;SOX7_HUMAN	C	233;285;285	ENSP00000301921:R233C;ENSP00000452017:R285C;ENSP00000451145:R285C	ENSP00000346908:R285C	R	-	1	0	SOX7;CTD-2135J3.4	10621128	0.993000	0.37304	0.408000	0.26446	0.161000	0.22273	2.586000	0.46119	1.034000	0.39945	0.462000	0.41574	CGC		0.692	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1		
DOK2	9046	broad.mit.edu	37	8	21767417	21767417	+	Missense_Mutation	SNP	C	C	T	rs200503110		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:21767417C>T	ENST00000276420.4	-	5	902	c.644G>A	c.(643-645)cGt>cAt	p.R215H	DOK2_ENST00000544659.1_Missense_Mutation_p.R61H	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	215	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GACGCAGCGACGGCCTGCCTC	0.522																																						uc003wzx.1																			0		p.G214F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(643-645)cGt>cAt		Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.							44.0	42.0	43.0					8																	21767417		2200	4291	6491	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21767417C>T	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.644G>A	8.37:g.21767417C>T	ENSP00000276420:p.Arg215His					DOK2_uc003wzy.1_Missense_Mutation_p.R215H|DOK2_uc003wzz.1_Missense_Mutation_p.R61H|DOK2_uc010lth.1_Missense_Mutation_p.R61H	p.R215H	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	4	737	-			215			IRS-type PTB.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.644G>A	CCDS6016.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.73|12.73	2.024268|2.024268	0.35701|0.35701	.|.	.|.	ENSG00000147443|ENSG00000147443	ENST00000276420;ENST00000544659;ENST00000518197|ENST00000523932	D;D;D|T	0.86097|0.43688	-2.07;-2.07;-2.07|0.94	4.73|4.73	4.73|4.73	0.59995|0.59995	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70789|0.70789	0.3264|0.3264	M|M	0.93978|0.93978	3.48|3.48	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.77043|0.77043	-0.2734|-0.2734	10|7	0.72032|0.35671	D|T	0.01|0.21	.|.	16.5224|16.5224	0.84320|0.84320	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	215;215|.	O60496;A8K7W1|.	DOK2_HUMAN;.|.	H|I	215;61;61|208	ENSP00000276420:R215H;ENSP00000443602:R61H;ENSP00000430729:R61H|ENSP00000429224:V208I	ENSP00000276420:R215H|ENSP00000429224:V208I	R|V	-|-	2|1	0|0	DOK2|DOK2	21823363|21823363	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.624000|0.624000	0.37722|0.37722	7.096000|7.096000	0.76960|0.76960	2.187000|2.187000	0.69744|0.69744	0.449000|0.449000	0.29647|0.29647	CGT|GTC		0.522	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974	
KCNU1	157855	broad.mit.edu	37	8	36642023	36642023	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:36642023T>C	ENST00000399881.3	+	1	132	c.95T>C	c.(94-96)tTt>tCt	p.F32S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	32					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTCTCTTCCTTTGTGACCTTC	0.413																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(94-96)tTt>tCt		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.							170.0	156.0	160.0					8																	36642023		1956	4147	6103	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36642023T>C	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.95T>C	8.37:g.36642023T>C	ENSP00000382770:p.Phe32Ser					KCNU1_uc003xjw.2_Non-coding_Transcript	p.F32S	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	0	182	+			32						Missense_Mutation	SNP	ENST00000399881.3	37	c.95T>C	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	T	10.47	1.359617	0.24598	.	.	ENSG00000215262	ENST00000523973;ENST00000399881	T;T	0.32023	1.47;1.49	5.49	4.32	0.51571	.	.	.	.	.	T	0.25082	0.0609	L	0.34521	1.04	0.45464	D	0.998432	P	0.44877	0.845	B	0.41860	0.368	T	0.02933	-1.1092	9	0.87932	D	0	.	9.8937	0.41304	0.0:0.0:0.1713:0.8286	.	32	A8MYU2	KCNU1_HUMAN	S	32	ENSP00000429951:F32S;ENSP00000382770:F32S	ENSP00000382770:F32S	F	+	2	0	KCNU1	36761181	0.090000	0.21635	0.793000	0.32043	0.065000	0.16274	0.810000	0.27183	1.007000	0.39238	0.528000	0.53228	TTT		0.413	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
ZFAND1	79752	broad.mit.edu	37	8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:82626245G>A	ENST00000220669.5	-	6	406	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_ENST00000521895.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000521287.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000517588.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000522520.1_Nonsense_Mutation_p.R23*|ZFAND1_ENST00000519523.1_Nonsense_Mutation_p.R130*|ZFAND1_ENST00000523096.1_Nonsense_Mutation_p.R130*	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	130							zinc ion binding (GO:0008270)	p.R130*(3)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343																																						uc003ycj.2																			3	Substitution - Nonsense(3)	p.R130*(6)	lung(1)|ovary(1)|prostate(1)	kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						c.(388-390)Cga>Tga		Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.							187.0	158.0	168.0					8																	82626245		2203	4299	6502	SO:0001587	stop_gained	79752						zinc ion binding	g.chr8:82626245G>A		CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.388C>T	8.37:g.82626245G>A	ENSP00000220669:p.Arg130*					ZFAND1_uc010lzx.2_Nonsense_Mutation_p.R130*|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Nonsense_Mutation_p.R23*|ZFAND1_uc003yck.2_Nonsense_Mutation_p.R23*|ZFAND1_uc022awv.1_Nonsense_Mutation_p.R130*|ZFAND1_uc022aww.1_Nonsense_Mutation_p.R23*	p.R130*	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN			5	411	-			130					E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Nonsense_Mutation	SNP	ENST00000220669.5	37	c.388C>T	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.970302	0.92919	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.78	2.72	0.32119	.	0.330492	0.31495	N	0.007556	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	11.0672	0.47982	0.0:0.4208:0.4368:0.1425	.	.	.	.	X	130;130;23;23;23;23;23;130;23;23;23;23;23;23	.	ENSP00000220669:R130X	R	-	1	2	ZFAND1	82788800	1.000000	0.71417	0.984000	0.44739	0.995000	0.86356	2.483000	0.45233	0.725000	0.32318	0.650000	0.86243	CGA		0.343	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1	NM_024699	
ANKRD46	157567	broad.mit.edu	37	8	101541822	101541823	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:101541822_101541823delTG	ENST00000520552.1	-	3	400_401	c.239_240delCA	c.(238-240)acafs	p.T80fs	ANKRD46_ENST00000335659.3_Frame_Shift_Del_p.T80fs|ANKRD46_ENST00000519316.1_Frame_Shift_Del_p.T80fs|ANKRD46_ENST00000520311.1_Frame_Shift_Del_p.T80fs|ANKRD46_ENST00000519597.1_Frame_Shift_Del_p.T80fs	NM_001270379.1	NP_001257308.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	80						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GGTGAAGAGCTGTGTTTCCTTG	0.436																																						uc003yjo.1																			0				kidney(1)|large_intestine(2)|lung(4)	7						c.(238-240)acafs		Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.																																				SO:0001589	frameshift_variant	157567					integral to membrane		g.chr8:101541822_101541823delTG	AB077205	CCDS6287.1, CCDS59109.1	8q22.3	2013-01-10						"""Ankyrin repeat domain containing"""	27229	protein-coding gene	gene with protein product							Standard	NM_001270377		Approved		uc003yjm.4	Q86W74		ENST00000520552.1:c.239_240delCA	8.37:g.101541824_101541825delTG	ENSP00000429015:p.Thr80fs					ANKRD46_uc003yjm.3_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjn.1_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjp.1_Frame_Shift_Del_p.T80fs	p.T80fs	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)		3	548_549	-	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		80					Q6P9B7	Frame_Shift_Del	DEL	ENST00000520552.1	37	c.239_240delCA	CCDS59109.1																																																																																				0.436	ANKRD46-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379899.1	NM_198401	
GRIN3A	116443	broad.mit.edu	37	9	104335628	104335628	+	Missense_Mutation	SNP	C	C	T	rs199945164		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr9:104335628C>T	ENST00000361820.3	-	9	3776	c.3176G>A	c.(3175-3177)cGg>cAg	p.R1059Q		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1059					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.R1059Q(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATTGGTGGTCCGCAAGGCAGG	0.527													A|||	1	0.000199681	0.0	0.0	5008	,	,		20403	0.001		0.0	False		,,,				2504	0.0					uc004bbp.2																			1	Substitution - Missense(1)	p.R1059Q(2)	large_intestine(1)	breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(3175-3177)cGg>cAg		Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						123.0	112.0	116.0					9																	104335628		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104335628C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3176G>A	9.37:g.104335628C>T	ENSP00000355155:p.Arg1059Gln					GRIN3A_uc004bbo.2_Missense_Mutation_p.R134Q	p.R1059Q	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			8	3777	-		Acute lymphoblastic leukemia(62;0.0568)	1059					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.3176G>A	CCDS6758.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	22.4	4.282755	0.80692	.	.	ENSG00000198785	ENST00000361820	T	0.09817	2.94	5.38	4.24	0.50183	.	1.055380	0.07504	N	0.907779	T	0.06280	0.0162	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.41106	-0.9527	10	0.72032	D	0.01	.	8.4598	0.32921	0.7997:0.132:0.0683:0.0	.	1059	Q8TCU5	NMD3A_HUMAN	Q	1059	ENSP00000355155:R1059Q	ENSP00000355155:R1059Q	R	-	2	0	GRIN3A	103375449	0.996000	0.38824	0.926000	0.36857	0.566000	0.35808	2.611000	0.46334	0.442000	0.26555	-0.256000	0.11100	CGG		0.527	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
BRINP1	1620	broad.mit.edu	37	9	122000991	122000991	+	Silent	SNP	A	A	G			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr9:122000991A>G	ENST00000265922.3	-	5	1088	c.627T>C	c.(625-627)aaT>aaC	p.N209N	BRINP1_ENST00000373964.2_Silent_p.N209N	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	209	MACPF.				cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CAGAGTCCAGATTGTCATAGC	0.507																																						uc004bkc.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(625-627)aaT>aaC		Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.							131.0	94.0	107.0					9																	122000991		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:122000991A>G	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.627T>C	9.37:g.122000991A>G						DBC1_uc004bkd.2_Silent_p.N209N	p.N209N	NM_014618	NP_055433	O60477	DBC1_HUMAN			4	1083	-			209			MACPF.		Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.627T>C	CCDS6822.1																																																																																				0.507	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618	
OCRL	4952	broad.mit.edu	37	X	128696660	128696660	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chrX:128696660G>A	ENST00000371113.4	+	12	1306	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	OCRL_ENST00000357121.5_Missense_Mutation_p.E381K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	381	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGCACACGTGGAGGACTTTGA	0.438																																						uc004euq.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(1141-1143)Gag>Aag		Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.							159.0	132.0	141.0					X																	128696660		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128696660G>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1141G>A	X.37:g.128696660G>A	ENSP00000360154:p.Glu381Lys					OCRL_uc004eur.3_Missense_Mutation_p.E381K	p.E381K	NM_000276	NP_000267	Q01968	OCRL_HUMAN			11	1306	+			381					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1141G>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	G	32	5.114165	0.94339	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.79749	-1.3;-1.3	5.69	5.69	0.88448	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.099726	0.64402	D	0.000002	D	0.89019	0.6596	M	0.73598	2.24	0.80722	D	1	P;D	0.59767	0.908;0.986	P;D	0.64506	0.527;0.926	D	0.90014	0.4123	10	0.72032	D	0.01	.	17.6451	0.88146	0.0:0.0:1.0:0.0	.	381;381	Q01968-2;Q01968	.;OCRL_HUMAN	K	381	ENSP00000360154:E381K;ENSP00000349635:E381K	ENSP00000349635:E381K	E	+	1	0	OCRL	128524341	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.471000	0.97696	2.384000	0.81235	0.513000	0.50165	GAG		0.438	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
MAMLD1	10046	broad.mit.edu	37	X	149639327	149639327	+	Silent	SNP	G	G	A	rs374561693		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chrX:149639327G>A	ENST00000370401.2	+	4	1792	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAMLD1_ENST00000426613.2_Silent_p.Q469Q|MAMLD1_ENST00000432680.2_Silent_p.Q469Q|MAMLD1_ENST00000262858.5_Silent_p.Q494Q|MAMLD1_ENST00000455522.2_5'UTR			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	494	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCcagcaacagcagcagcagc	0.532																																						uc011mxu.2																			3	Substitution - coding silent(3)	p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)	kidney(3)	breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1405-1407)caG>caA		Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.							42.0	41.0	41.0					X																	149639327		2203	4300	6503	SO:0001819	synonymous_variant	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639327G>A	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1482G>A	X.37:g.149639327G>A						MAMLD1_uc011mxt.1_Silent_p.Q456Q|MAMLD1_uc004fee.2_Silent_p.Q494Q|MAMLD1_uc011mxv.2_Silent_p.Q469Q|MAMLD1_uc011mxw.2_Silent_p.Q421Q	p.Q469Q	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN			2	1717	+	Acute lymphoblastic leukemia(192;6.56e-05)		494					B2RCQ4|B4DG93|B9EGA5	Silent	SNP	ENST00000370401.2	37	c.1407G>A	CCDS14693.2																																																																																				0.532	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
