#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FAM86EP	348926	broad.mit.edu	37	4	3954855	3954855	+	RNA	SNP	G	G	T	rs545005986	byFrequency	TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr4:3954855G>T	ENST00000313946.8	-	0	137				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AAAATATCCCGCCGCAGCTCA	0.493																																						ENST00000281228.8																			0																																																			0							g.chr4:3954855G>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954855G>T						FAM86EP_ENST00000313946.8_RNA								0	143	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.493	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	125	1	0	1.23904e-05	1	1.33896e-05	4	125				
GOLGA8EP	390535	broad.mit.edu	37	15	23445474	23445474	+	RNA	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr15:23445474G>A	ENST00000526079.1	+	0	2294				AC100757.1_ENST00000458911.1_RNA|RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		CATGACCATCGTCAAAGACCT	0.433																																						ENST00000526079.1																			0																				76.0	85.0	82.0					15																	23445474		2145	4238	6383			390535							g.chr15:23445474G>A			15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23445474G>A								NR_027407.1|NR_033350.1						0	2294	+									RNA	SNP	ENST00000526079.1	37																																																																																						0.433	GOLGA8EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393312.1	NR_033350.1		4	132	0	0	0	1	0	4	132				
C14orf182	283551	broad.mit.edu	37	14	50472372	50472372	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr14:50472372C>T	ENST00000399206.1	-	1	1866	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	49										large_intestine(2)|urinary_tract(1)	3						ATGTCTGTGTCGTAGAACTGT	0.527																																						ENST00000399206.1																			0				large_intestine(2)|urinary_tract(1)	3						c.(145-147)cGa>cAa		chromosome 14 open reading frame 182							221.0	241.0	235.0					14																	50472372		2050	4192	6242	SO:0001583	missense	283551							g.chr14:50472372C>T	AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000399206.1:c.146G>A	14.37:g.50472372C>T	ENSP00000382157:p.Arg49Gln					C14orf182_ENST00000529902.1_5'UTR	p.R49Q	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN			1	1866	-			49					A8MYX4	Missense_Mutation	SNP	ENST00000399206.1	37	c.146G>A	CCDS41949.1	.	.	.	.	.	.	.	.	.	.	C	8.007	0.756780	0.15846	.	.	ENSG00000214900	ENST00000399206	T	0.56611	0.45	3.26	-0.566	0.11767	.	.	.	.	.	T	0.37237	0.0996	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32955	-0.9887	8	0.87932	D	0	.	5.8518	0.18697	0.0:0.387:0.0:0.613	.	49	A1A4T8-2	.	Q	49	ENSP00000382157:R49Q	ENSP00000382157:R49Q	R	-	2	0	C14orf182	49542122	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.670000	0.05256	-0.079000	0.12707	-0.351000	0.07748	CGA		0.527	C14orf182-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395717.1	NM_001012706		81	104	0	0	0	1	0	81	104				
TRIM60	166655	broad.mit.edu	37	4	165961778	165961778	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr4:165961778C>T	ENST00000512596.1	+	3	770	c.554C>T	c.(553-555)tCt>tTt	p.S185F	TRIM60_ENST00000508504.1_Missense_Mutation_p.S185F|TRIM60_ENST00000341062.5_Missense_Mutation_p.S185F	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	185						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GAAATAAATTCTGAGTTTGAG	0.318																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(553-555)tCt>tTt		tripartite motif containing 60							35.0	38.0	37.0					4																	165961778		2196	4296	6492	SO:0001583	missense	166655					intracellular	zinc ion binding	g.chr4:165961778C>T	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.554C>T	4.37:g.165961778C>T	ENSP00000421142:p.Ser185Phe					TRIM60_ENST00000341062.5_Missense_Mutation_p.S185F|TRIM60_ENST00000508504.1_Missense_Mutation_p.S185F	p.S185F	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	770	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	185					Q8NA35	Missense_Mutation	SNP	ENST00000512596.1	37	c.554C>T	CCDS3808.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748920	0.30955	.	.	ENSG00000176979	ENST00000512596;ENST00000508504;ENST00000341062	T;T;T	0.04454	3.62;3.62;3.62	2.49	-0.59	0.11679	.	0.976806	0.08301	U	0.966930	T	0.07503	0.0189	M	0.73217	2.22	0.09310	N	1	B	0.28233	0.204	B	0.30179	0.112	T	0.36212	-0.9757	10	0.46703	T	0.11	.	6.5975	0.22683	0.1854:0.4513:0.3632:0.0	.	185	Q495X7	TRI60_HUMAN	F	185	ENSP00000421142:S185F;ENSP00000426496:S185F;ENSP00000343765:S185F	ENSP00000343765:S185F	S	+	2	0	TRIM60	166181228	0.000000	0.05858	0.001000	0.08648	0.878000	0.50629	-0.359000	0.07632	-0.184000	0.10567	0.655000	0.94253	TCT		0.318	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		28	39	0	0	0	1	0	28	39				
RLTPR	146206	broad.mit.edu	37	16	67682147	67682147	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr16:67682147G>A	ENST00000334583.6	+	14	1592	c.1264G>A	c.(1264-1266)Gca>Aca	p.A422T	RLTPR_ENST00000545661.1_Missense_Mutation_p.A386T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	422					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCAGCTCTTCGCAGCGGTATC	0.716																																						ENST00000334583.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18						c.(1264-1266)Gca>Aca		RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing							8.0	10.0	9.0					16																	67682147		1903	4036	5939	SO:0001583	missense	146206							g.chr16:67682147G>A	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1264G>A	16.37:g.67682147G>A	ENSP00000334958:p.Ala422Thr					RLTPR_ENST00000545661.1_Missense_Mutation_p.A386T	p.A422T	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	14	1592	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	422					B8X2Z3	Missense_Mutation	SNP	ENST00000334583.6	37	c.1264G>A	CCDS45513.1	.	.	.	.	.	.	.	.	.	.	G	10.35	1.326475	0.24080	.	.	ENSG00000159753	ENST00000334583;ENST00000545661	T;T	0.13420	2.62;2.59	4.31	-0.093	0.13652	.	0.430031	0.24725	N	0.036115	T	0.05502	0.0145	N	0.19112	0.55	0.09310	N	1	B;B	0.26547	0.0;0.152	B;B	0.11329	0.0;0.006	T	0.39522	-0.9610	10	0.12430	T	0.62	-14.1476	4.0436	0.09763	0.2797:0.0:0.5579:0.1624	.	386;422	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	T	422;386	ENSP00000334958:A422T;ENSP00000441481:A386T	ENSP00000334958:A422T	A	+	1	0	RLTPR	66239648	0.002000	0.14202	0.004000	0.12327	0.343000	0.28985	0.954000	0.29175	-0.083000	0.12618	-0.448000	0.05591	GCA		0.716	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838		9	0	0	0	0	1	0	9	0				
GPR84	53831	broad.mit.edu	37	12	54756501	54756501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr12:54756501G>A	ENST00000551809.1	-	1	1770	c.1135C>T	c.(1135-1137)Caa>Taa	p.Q379*	GPR84_ENST00000267015.3_Nonsense_Mutation_p.Q379*|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	379						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCATATGCTTGGCGGAATTGG	0.547																																						ENST00000551809.1																			0				NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						c.(1135-1137)Caa>Taa		G protein-coupled receptor 84							158.0	181.0	173.0					12																	54756501		2203	4300	6503	SO:0001587	stop_gained	53831					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:54756501G>A	AF237762	CCDS8878.1	12q13.13	2012-08-20						"""GPCR / Class A : Fatty acid receptors"""	4535	protein-coding gene	gene with protein product		606383				11273702	Standard	NM_020370		Approved	EX33	uc001sfu.3	Q9NQS5		ENST00000551809.1:c.1135C>T	12.37:g.54756501G>A	ENSP00000450310:p.Gln379*					RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Nonsense_Mutation_p.Q379*	p.Q379*			Q9NQS5	GPR84_HUMAN			1	1770	-			379					B6V9G7	Nonsense_Mutation	SNP	ENST00000551809.1	37	c.1135C>T	CCDS8878.1	.	.	.	.	.	.	.	.	.	.	G	41	8.707799	0.98922	.	.	ENSG00000139572	ENST00000267015;ENST00000551809	.	.	.	5.43	4.49	0.54785	.	0.269515	0.30159	N	0.010264	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3926	13.3689	0.60701	0.0:0.2512:0.7487:0.0	.	.	.	.	X	379	.	ENSP00000267015:Q379X	Q	-	1	0	GPR84	53042768	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.855000	0.48333	2.719000	0.93026	0.655000	0.94253	CAA		0.547	GPR84-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406156.1			7	341	0	0	0	1	0	7	341				
MAGEC2	51438	broad.mit.edu	37	X	141291581	141291581	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chrX:141291581C>A	ENST00000247452.3	-	3	540	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	65					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.G65R(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGGACCACCAAGAATC	0.532										HNSCC(46;0.14)																												ENST00000247452.3																			1	Substitution - Missense(1)	p.G65R(1)	lung(1)	NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(193-195)Ggt>Tgt		melanoma antigen family C, 2							76.0	74.0	75.0					X																	141291581		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291581C>A	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.193G>T	X.37:g.141291581C>A	ENSP00000354660:p.Gly65Cys	HNSCC(46;0.14)					p.G65C	NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN			3	540	-	Acute lymphoblastic leukemia(192;6.56e-05)		65					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.193G>T	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	10.13	1.266548	0.23136	.	.	ENSG00000046774	ENST00000247452	T	0.02158	4.42	0.685	0.685	0.18009	.	.	.	.	.	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	D	0.89917	1.0	D	0.72075	0.976	T	0.50303	-0.8844	8	0.51188	T	0.08	.	.	.	.	.	65	Q9UBF1	MAGC2_HUMAN	C	65	ENSP00000354660:G65C	ENSP00000354660:G65C	G	-	1	0	MAGEC2	141119247	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.985000	0.01485	0.581000	0.29539	0.411000	0.27672	GGT		0.532	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		41	19	1	0	5.43694e-19	1	6.17415e-19	41	19				
GRIK2	2898	broad.mit.edu	37	6	102134192	102134192	+	Silent	SNP	G	G	A	rs145542805		TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr6:102134192G>A	ENST00000421544.1	+	6	1405	c.915G>A	c.(913-915)ccG>ccA	p.P305P	GRIK2_ENST00000369137.3_Silent_p.P305P|GRIK2_ENST00000318991.6_Silent_p.P305P|GRIK2_ENST00000369138.1_Silent_p.P305P|GRIK2_ENST00000413795.1_Silent_p.P305P|GRIK2_ENST00000358361.3_Silent_p.P305P|GRIK2_ENST00000369134.4_Silent_p.P256P	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	305					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AGGCACCTCCGAAACCCGATT	0.393													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16747	0.0		0.0	False		,,,				2504	0.0					ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(913-915)ccG>ccA		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)	G	,,	1,4405	2.1+/-5.4	0,1,2202	96.0	97.0	97.0		915,915,915	-6.0	0.8	6	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	GRIK2	NM_001166247.1,NM_021956.4,NM_175768.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	305/893,305/909,305/870	102134192	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102134192G>A		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.915G>A	6.37:g.102134192G>A						GRIK2_ENST00000369134.4_Silent_p.P256P|GRIK2_ENST00000358361.3_Silent_p.P305P|GRIK2_ENST00000318991.6_Silent_p.P305P|GRIK2_ENST00000413795.1_Silent_p.P305P|GRIK2_ENST00000421544.1_Silent_p.P305P|GRIK2_ENST00000369137.3_Silent_p.P305P	p.P305P	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	6	1405	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	305					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Silent	SNP	ENST00000421544.1	37	c.915G>A	CCDS5048.1																																																																																				0.393	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			25	73	0	0	0	1	0	25	73				
ZSCAN22	342945	broad.mit.edu	37	19	58850179	58850179	+	Silent	SNP	G	G	A	rs139283341	byFrequency	TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr19:58850179G>A	ENST00000329665.4	+	3	1110	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	321					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A321A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		ACACAGGGGCGAAGCCCCATG	0.567													G|||	4	0.000798722	0.0	0.0029	5008	,	,		19012	0.0		0.001	False		,,,				2504	0.001					ENST00000329665.4																			1	Substitution - coding silent(1)	p.A321A(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16						c.(961-963)gcG>gcA		zinc finger and SCAN domain containing 22		G		3,4403	6.2+/-15.9	0,3,2200	73.0	78.0	76.0		963	-2.7	0.7	19	dbSNP_134	76	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	ZSCAN22	NM_181846.2		0,10,6493	AA,AG,GG		0.0814,0.0681,0.0769		321/492	58850179	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	342945				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58850179G>A	M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.963G>A	19.37:g.58850179G>A							p.A321A	NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)	3	1110	+		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	321					Q15922|Q7Z3L8	Silent	SNP	ENST00000329665.4	37	c.963G>A	CCDS12975.1																																																																																				0.567	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466765.1	NM_181846		79	149	0	0	0	1	0	79	149				
ZBTB22	9278	broad.mit.edu	37	6	33284458	33284458	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr6:33284458G>A	ENST00000431845.2	-	2	387	c.236C>T	c.(235-237)tCc>tTc	p.S79F	DAXX_ENST00000477162.1_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.S79F|TAPBP_ENST00000456592.2_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	79	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GAAGTAAGGGGAGGAGGCAGC	0.602																																						ENST00000431845.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(235-237)tCc>tTc		zinc finger and BTB domain containing 22							90.0	90.0	90.0					6																	33284458		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33284458G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.236C>T	6.37:g.33284458G>A	ENSP00000407545:p.Ser79Phe					ZBTB22_ENST00000418724.1_Missense_Mutation_p.S79F	p.S79F	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN			2	387	-			79			BTB.		B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.236C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442692	0.63067	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	D;D;D	0.85955	-2.05;-2.05;-2.05	4.57	4.57	0.56435	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	D	0.95169	0.8434	H	0.98918	4.37	0.58432	D	0.999996	D	0.89917	1.0	D	0.81914	0.995	D	0.96791	0.9582	9	0.87932	D	0	.	14.9109	0.70755	0.0:0.0:1.0:0.0	.	79	O15209	ZBT22_HUMAN	F	79	ENSP00000404403:S79F;ENSP00000407545:S79F;ENSP00000413172:S79F	ENSP00000404403:S79F	S	-	2	0	ZBTB22	33392436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.700000	0.84556	2.374000	0.81015	0.643000	0.83706	TCC		0.602	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			46	81	0	0	0	1	0	46	81				
AMPH	273	broad.mit.edu	37	7	38505847	38505847	+	Splice_Site	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr7:38505847G>A	ENST00000356264.2	-	8	807	c.592C>T	c.(592-594)Cga>Tga	p.R198*	AMPH_ENST00000325590.5_Splice_Site_p.R198*|AMPH_ENST00000428293.2_Splice_Site_p.R198*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	198	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AATCCAACTCGTCTGCCATGT	0.368																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.e8-1		amphiphysin							46.0	45.0	45.0					7																	38505847		2203	4300	6503	SO:0001630	splice_region_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38505847G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.591-1C>T	7.37:g.38505847G>A						AMPH_ENST00000325590.5_Splice_Site_p.R198_splice|AMPH_ENST00000428293.2_Splice_Site_p.R198_splice	p.R198_splice	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			8	807	-			198			BAR.		A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Splice_Site	SNP	ENST00000356264.2	37	c.590_splice	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	39	7.287385	0.98189	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000544070	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.546	19.8994	0.96980	0.0:0.0:1.0:0.0	.	.	.	.	X	198	.	ENSP00000317441:R198X	R	-	1	2	AMPH	38472372	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	6.508000	0.73721	2.707000	0.92482	0.555000	0.69702	CGA		0.368	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	Nonsense_Mutation	17	30	0	0	0	1	0	17	30				
MSH4	4438	broad.mit.edu	37	1	76262786	76262786	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:76262786C>T	ENST00000263187.3	+	1	220	c.116C>T	c.(115-117)cCa>cTa	p.P39L		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	39					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CAGGAGACTCCACAGAGCCGC	0.652								Mismatch excision repair (MMR)																														ENST00000263187.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(115-117)cCa>cTa	Mismatch excision repair (MMR)	mutS homolog 4							27.0	29.0	28.0					1																	76262786		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76262786C>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.116C>T	1.37:g.76262786C>T	ENSP00000263187:p.Pro39Leu						p.P39L	NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN			1	220	+			39					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.116C>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896993	0.33535	.	.	ENSG00000057468	ENST00000263187	D	0.89196	-2.48	3.53	1.64	0.23874	.	2.305190	0.02174	N	0.059929	T	0.63046	0.2478	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59129	-0.7512	10	0.72032	D	0.01	-1.8525	5.7061	0.17909	0.1944:0.699:0.0:0.1066	.	39	O15457	MSH4_HUMAN	L	39	ENSP00000263187:P39L	ENSP00000263187:P39L	P	+	2	0	MSH4	76035374	0.004000	0.15560	0.001000	0.08648	0.023000	0.10783	1.029000	0.30140	0.480000	0.27534	0.462000	0.41574	CCA		0.652	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		18	26	0	0	0	1	0	18	26				
MUC4	4585	broad.mit.edu	37	3	195511822	195511822	+	Missense_Mutation	SNP	G	G	T	rs200327729		TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr3:195511822G>T	ENST00000463781.3	-	2	7088	c.6629C>A	c.(6628-6630)cCt>cAt	p.P2210H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2210H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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.P2210H(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)		GCTGGTGACAGGAAGAGGGGT	0.597																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.P2210H(2)	central_nervous_system(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						c.(6628-6630)cCt>cAt		mucin 4, cell surface associated							34.0	28.0	30.0					3																	195511822		689	1590	2279	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.chr3:195511822G>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.6629C>A	3.37:g.195511822G>T	ENSP00000417498:p.Pro2210His					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P2210H	p.P2210H	NM_018406.6	NP_060876.5	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)	2	7088	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	999					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.6629C>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	G	8.653	0.898651	0.17686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.48;1.47	.	.	.	.	.	.	.	.	T	0.32010	0.0815	N	0.19112	0.55	0.22305	N	0.99921	D	0.64830	0.994	D	0.71656	0.974	T	0.18681	-1.0329	7	.	.	.	.	5.844	0.18652	9.0E-4:0.0:0.9991:0.0	.	2210	E7ESK3	.	H	2210	ENSP00000417498:P2210H;ENSP00000420243:P2210H	.	P	-	2	0	MUC4	196996217	0.000000	0.05858	0.078000	0.20375	0.036000	0.12997	-1.771000	0.01789	0.064000	0.16427	0.064000	0.15345	CCT		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	12	1	0	0.115264	1	0.120667	3	12				
NDST4	64579	broad.mit.edu	37	4	115891640	115891640	+	Silent	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr4:115891640G>A	ENST00000264363.2	-	4	1845	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	389	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACTCGTTGTGGAAGAGGTGGG	0.443																																						ENST00000264363.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1165-1167)ttC>ttT		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							124.0	112.0	116.0					4																	115891640		2203	4300	6503	SO:0001819	synonymous_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115891640G>A	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.1167C>T	4.37:g.115891640G>A							p.F389F	NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	4	1845	-		Ovarian(17;0.156)	389			Heparan sulfate N-deacetylase 4.		Q2KHM8	Silent	SNP	ENST00000264363.2	37	c.1167C>T	CCDS3706.1																																																																																				0.443	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		30	45	0	0	0	1	0	30	45				
ENPP6	133121	broad.mit.edu	37	4	185012391	185012391	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr4:185012391G>A	ENST00000296741.2	-	8	1403	c.1262C>T	c.(1261-1263)gCc>gTc	p.A421V		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	421					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GACAGGCGGGGCAGTGCTGGC	0.557																																						ENST00000296741.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15						c.(1261-1263)gCc>gTc		ectonucleotide pyrophosphatase/phosphodiesterase 6							69.0	70.0	70.0					4																	185012391		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185012391G>A	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.1262C>T	4.37:g.185012391G>A	ENSP00000296741:p.Ala421Val						p.A421V	NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	8	1403	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	421					Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.1262C>T	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329978	0.60743	.	.	ENSG00000164303	ENST00000296741	T	0.75260	-0.92	6.08	6.08	0.98989	.	2.795690	0.01132	N	0.006010	T	0.68155	0.2970	N	0.11927	0.2	0.21967	N	0.999445	B	0.13145	0.007	B	0.12156	0.007	T	0.55811	-0.8082	10	0.25751	T	0.34	-14.1425	20.2825	0.98528	0.0:0.0:1.0:0.0	.	421	Q6UWR7	ENPP6_HUMAN	V	421	ENSP00000296741:A421V	ENSP00000296741:A421V	A	-	2	0	ENPP6	185249385	0.302000	0.24454	0.010000	0.14722	0.002000	0.02628	3.311000	0.51919	2.894000	0.99253	0.591000	0.81541	GCC		0.557	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		23	66	0	0	0	1	0	23	66				
COBLL1	22837	broad.mit.edu	37	2	165551421	165551421	+	Silent	SNP	G	G	T	rs368667900		TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr2:165551421G>T	ENST00000392717.2	-	13	2713	c.2709C>A	c.(2707-2709)ccC>ccA	p.P903P	COBLL1_ENST00000194871.6_Silent_p.P932P|COBLL1_ENST00000342193.4_Silent_p.P865P|COBLL1_ENST00000409184.3_Silent_p.P865P|COBLL1_ENST00000375458.2_Silent_p.P827P			Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	903						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TTGTCATTTTGGGAGCAGGTT	0.433																																						ENST00000375458.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						c.(2479-2481)ccC>ccA		cordon-bleu WH2 repeat protein-like 1							96.0	92.0	94.0					2																	165551421		2203	4300	6503	SO:0001819	synonymous_variant	22837							g.chr2:165551421G>T	AB023194	CCDS2223.2, CCDS63045.1	2q24.3	2012-12-07	2012-12-07		ENSG00000082438	ENSG00000082438			23571	protein-coding gene	gene with protein product		610318	"""COBL-like 1"""				Standard	NM_001278458		Approved	KIAA0977	uc002ucp.3	Q53SF7	OTTHUMG00000074019	ENST00000392717.2:c.2709C>A	2.37:g.165551421G>T						COBLL1_ENST00000409184.3_Silent_p.P865P|COBLL1_ENST00000392717.2_Silent_p.P903P|COBLL1_ENST00000342193.4_Silent_p.P865P|COBLL1_ENST00000194871.6_Silent_p.P932P	p.P827P	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN			11	2702	-			903					A6NMZ3|Q6IQ33|Q7Z3I6|Q9BRH4|Q9UG88|Q9Y2I3	Silent	SNP	ENST00000392717.2	37	c.2481C>A																																																																																					0.433	COBLL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014900		53	71	1	0	4.17463e-26	1	4.82242e-26	53	71				
FAM86EP	348926	broad.mit.edu	37	4	3954857	3954857	+	RNA	SNP	C	C	A	rs17410899		TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr4:3954857C>A	ENST00000313946.8	-	0	135				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AATATCCCGCCGCAGCTCAGA	0.488																																						ENST00000281228.8																			0																																																			0							g.chr4:3954857C>A			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3954857C>A						FAM86EP_ENST00000313946.8_RNA								0	141	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.488	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			4	131	1	0	0.184627	1	0.184627	4	131				
NIN	51199	broad.mit.edu	37	14	51239789	51239789	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr14:51239789G>C	ENST00000382041.3	-	8	881	c.691C>G	c.(691-693)Ctt>Gtt	p.L231V	NIN_ENST00000245441.5_Missense_Mutation_p.L231V|NIN_ENST00000530997.2_Missense_Mutation_p.L231V|NIN_ENST00000382043.4_Missense_Mutation_p.L231V|NIN_ENST00000389868.3_Missense_Mutation_p.L231V|NIN_ENST00000324330.9_Missense_Mutation_p.L231V|NIN_ENST00000453196.1_Missense_Mutation_p.L231V	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	231	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TCAGGATCAAGATTATGGAAT	0.358			T	PDGFRB	MPD																																	ENST00000245441.5				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71						c.(691-693)Ctt>Gtt		ninein (GSK3B interacting protein)							96.0	94.0	94.0					14																	51239789		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51239789G>C	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.691C>G	14.37:g.51239789G>C	ENSP00000371472:p.Leu231Val					NIN_ENST00000389868.3_Missense_Mutation_p.L231V|NIN_ENST00000530997.2_Missense_Mutation_p.L231V|NIN_ENST00000453196.1_Missense_Mutation_p.L231V|NIN_ENST00000382041.3_Missense_Mutation_p.L231V|NIN_ENST00000382043.4_Missense_Mutation_p.L231V|NIN_ENST00000324330.9_Missense_Mutation_p.L231V	p.L231V	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN			8	881	-	all_epithelial(31;0.00244)|Breast(41;0.127)		231			EF-hand 4.		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.691C>G	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144419	0.77888	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	D;T;D;T;D;D;T	0.95788	-3.81;-0.57;-3.81;1.32;-3.81;-3.81;2.92	4.88	4.88	0.63580	EF-hand-like domain (1);	0.130542	0.53938	D	0.000054	D	0.95853	0.8650	L	0.27053	0.805	0.49299	D	0.999779	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.996;0.998	D;D;D;D;D	0.91635	0.999;0.998;0.997;0.912;0.99	D	0.96861	0.9632	10	0.72032	D	0.01	-6.2678	17.3719	0.87381	0.0:0.0:1.0:0.0	.	237;231;231;231;231	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	V	231;231;231;231;237;231;231;231;193	ENSP00000245441:L231V;ENSP00000374518:L231V;ENSP00000371474:L231V;ENSP00000371472:L231V;ENSP00000324210:L231V;ENSP00000412391:L231V;ENSP00000398641:L193V	ENSP00000245441:L231V	L	-	1	0	NIN	50309539	1.000000	0.71417	0.984000	0.44739	0.901000	0.52897	7.920000	0.87521	2.403000	0.81681	0.467000	0.42956	CTT		0.358	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		42	49	0	0	0	1	0	42	49				
TAOK3	51347	broad.mit.edu	37	12	118636903	118636903	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr12:118636903C>T	ENST00000392533.3	-	13	1637	c.1147G>A	c.(1147-1149)Gat>Aat	p.D383N	TAOK3_ENST00000419821.2_Missense_Mutation_p.D383N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	383	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTTTCGTCATCGTGCATCATG	0.502																																						ENST00000392533.3																			0				central_nervous_system(1)|lung(5)|skin(1)	7						c.(1147-1149)Gat>Aat		TAO kinase 3							242.0	175.0	197.0					12																	118636903		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118636903C>T	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.1147G>A	12.37:g.118636903C>T	ENSP00000376317:p.Asp383Asn					TAOK3_ENST00000419821.2_Missense_Mutation_p.D383N	p.D383N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN			13	1637	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		383			Ser-rich.		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.1147G>A	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835225	0.32421	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000359811	T;T	0.39787	1.06;1.06	5.19	4.28	0.50868	.	0.470616	0.23924	N	0.043219	T	0.28797	0.0714	N	0.22421	0.69	0.80722	D	1	B	0.28584	0.216	B	0.28784	0.094	T	0.15925	-1.0420	10	0.87932	D	0	.	9.9944	0.41891	0.0:0.8503:0.0:0.1497	.	383	Q9H2K8	TAOK3_HUMAN	N	383;383;3	ENSP00000416374:D383N;ENSP00000376317:D383N	ENSP00000352863:D3N	D	-	1	0	TAOK3	117121286	0.508000	0.26154	0.494000	0.27515	0.490000	0.33462	2.426000	0.44731	2.708000	0.92522	0.585000	0.79938	GAT		0.502	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		79	97	0	0	0	1	0	79	97				
OR51G2	81282	broad.mit.edu	37	11	4936212	4936212	+	Missense_Mutation	SNP	G	G	A	rs201371040	byFrequency	TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr11:4936212G>A	ENST00000322013.3	-	1	710	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCACGGTGCGCAGGATCAGA	0.522													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		22467	0.0		0.0	False		,,,				2504	0.0					ENST00000322013.3																			0				autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(682-684)Cgc>Tgc		olfactory receptor, family 51, subfamily G, member 2							139.0	109.0	119.0					11																	4936212		2201	4298	6499	SO:0001583	missense	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936212G>A	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.682C>T	11.37:g.4936212G>A	ENSP00000322593:p.Arg228Cys					MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.R228C	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	710	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	228					Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	c.682C>T	CCDS31365.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	5.068	0.198153	0.09652	.	.	ENSG00000176893	ENST00000322013	T	0.39406	1.08	5.58	1.14	0.20703	GPCR, rhodopsin-like superfamily (1);	0.624103	0.14119	N	0.340166	T	0.33614	0.0869	L	0.46947	1.48	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.30765	-0.9967	10	0.59425	D	0.04	.	8.0062	0.30325	0.0755:0.0:0.5296:0.3948	.	228	Q8NGK0	O51G2_HUMAN	C	228	ENSP00000322593:R228C	ENSP00000322593:R228C	R	-	1	0	OR51G2	4892788	0.000000	0.05858	0.037000	0.18230	0.026000	0.11368	-1.046000	0.03525	0.367000	0.24454	0.655000	0.94253	CGC		0.522	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		26	29	0	0	0	1	0	26	29				
CDH10	1008	broad.mit.edu	37	5	24537631	24537631	+	Silent	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr5:24537631G>A	ENST00000264463.4	-	3	891	c.384C>T	c.(382-384)cgC>cgT	p.R128R		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	128	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R128R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGCTTGTGCGCGTAGAGTAT	0.413										HNSCC(23;0.051)																												ENST00000264463.4																			1	Substitution - coding silent(1)	p.R128R(1)	large_intestine(1)	NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(382-384)cgC>cgT		cadherin 10, type 2 (T2-cadherin)							158.0	146.0	150.0					5																	24537631		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537631G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.384C>T	5.37:g.24537631G>A		HNSCC(23;0.051)					p.R128R	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	891	-			128			Cadherin 1.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.384C>T	CCDS3892.1																																																																																				0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		125	77	0	0	0	1	0	125	77				
FER	2241	broad.mit.edu	37	5	108290547	108290547	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr5:108290547C>G	ENST00000281092.4	+	12	1831	c.1447C>G	c.(1447-1449)Cga>Gga	p.R483G	FER_ENST00000536402.1_3'UTR|FER_ENST00000438717.2_Missense_Mutation_p.R308G	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	483	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		CTTTTTGGTGCGAGAGAGTCA	0.408																																					Colon(146;1051 1799 9836 27344 47401)	ENST00000281092.4																			0				NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32						c.(1447-1449)Cga>Gga		fer (fps/fes related) tyrosine kinase							119.0	120.0	120.0					5																	108290547		2202	4300	6502	SO:0001583	missense	2241				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr5:108290547C>G	J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.1447C>G	5.37:g.108290547C>G	ENSP00000281092:p.Arg483Gly					FER_ENST00000438717.2_Missense_Mutation_p.R308G|FER_ENST00000536402.1_3'UTR	p.R483G	NM_005246.2	NP_005237.2	P16591	FER_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)	12	1831	+		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)	483			SH2.		B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	ENST00000281092.4	37	c.1447C>G	CCDS4098.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.079891	0.76528	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.99287	-5.69;-5.69	5.01	5.01	0.66863	SH2 motif (5);	0.000000	0.85682	D	0.000000	D	0.99750	0.9900	H	0.99600	4.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96719	0.9531	10	0.87932	D	0	-8.3804	18.3022	0.90168	0.0:1.0:0.0:0.0	.	483	P16591	FER_HUMAN	G	483;308	ENSP00000281092:R483G;ENSP00000394297:R308G	ENSP00000281092:R483G	R	+	1	2	FER	108318446	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.122000	0.71608	2.291000	0.77112	0.557000	0.71058	CGA		0.408	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250664.1	NM_005246		43	123	0	0	0	1	0	43	123				
SIKE1	80143	broad.mit.edu	37	1	115323142	115323142	+	Silent	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:115323142C>T	ENST00000060969.5	-	1	156	c.87G>A	c.(85-87)ctG>ctA	p.L29L	SIKE1_ENST00000369528.5_Silent_p.L29L|SIKE1_ENST00000506320.1_5'UTR			Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	29					innate immune response (GO:0045087)	cytosol (GO:0005829)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						ACTGATCCACCAGCGACTCGG	0.662																																						ENST00000369528.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(85-87)ctG>ctA		suppressor of IKBKE 1							22.0	26.0	24.0					1																	115323142		2191	4282	6473	SO:0001819	synonymous_variant	80143					cytosol	protein binding	g.chr1:115323142C>T	AK024821	CCDS878.1, CCDS41371.1	1p13.1	2009-08-13			ENSG00000052723	ENSG00000052723			26119	protein-coding gene	gene with protein product	"""suppressor of IKK epsilon"""	611656				16281057	Standard	NM_025073		Approved	FLJ21168, SIKE	uc001efp.4	Q9BRV8	OTTHUMG00000012061	ENST00000060969.5:c.87G>A	1.37:g.115323142C>T						SIKE1_ENST00000060969.5_Silent_p.L29L|SIKE1_ENST00000506320.1_5'UTR	p.L29L	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN			1	164	-			29					Q5TEZ7|Q5TEZ9|Q68DZ4|Q9H778	Silent	SNP	ENST00000060969.5	37	c.87G>A	CCDS878.1																																																																																				0.662	SIKE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033401.1	NM_025073		31	23	0	0	0	1	0	31	23				
CNKSR3	154043	broad.mit.edu	37	6	154763341	154763341	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr6:154763341A>T	ENST00000607772.1	-	3	844	c.300T>A	c.(298-300)agT>agA	p.S100R	CNKSR3_ENST00000479339.1_Missense_Mutation_p.S20R	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	100	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCGTCGGCTACTTATGTAAT	0.498																																						ENST00000607772.1																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(298-300)agT>agA		CNKSR family member 3							91.0	97.0	95.0					6																	154763341		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154763341A>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.300T>A	6.37:g.154763341A>T	ENSP00000475915:p.Ser100Arg					CNKSR3_ENST00000479339.1_Missense_Mutation_p.S20R	p.S100R	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	3	844	-		Ovarian(120;0.196)	100			CRIC.		Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.300T>A	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896634	0.72639	.	.	ENSG00000153721	ENST00000367213;ENST00000479339	T;T	0.47869	1.44;0.83	5.57	-6.42	0.01932	CRIC domain (1);CRIC domain, Chordata (1);	0.202250	0.53938	D	0.000052	T	0.28200	0.0696	L	0.40543	1.245	0.18873	N	0.999987	P	0.47484	0.896	P	0.49192	0.602	T	0.51284	-0.8725	10	0.40728	T	0.16	.	19.1705	0.93575	0.3289:0.0:0.6711:0.0	.	100	Q6P9H4	CNKR3_HUMAN	R	100;20	ENSP00000356182:S100R;ENSP00000418975:S20R	ENSP00000356182:S100R	S	-	3	2	CNKSR3	154805033	0.000000	0.05858	0.789000	0.31954	0.975000	0.68041	-2.712000	0.00817	-1.040000	0.03271	0.533000	0.62120	AGT		0.498	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		63	108	0	0	0	1	0	63	108				
PPARGC1B	133522	broad.mit.edu	37	5	149213163	149213163	+	Silent	SNP	G	G	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr5:149213163G>T	ENST00000309241.5	+	5	1559	c.1527G>T	c.(1525-1527)ctG>ctT	p.L509L	PPARGC1B_ENST00000360453.4_Silent_p.L470L|PPARGC1B_ENST00000403750.1_Silent_p.L445L|PPARGC1B_ENST00000394320.3_Silent_p.L509L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	509					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGCCCTCACTGTGCCTGGCTC	0.667																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(1525-1527)ctG>ctT		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							29.0	31.0	31.0					5																	149213163		2196	4298	6494	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149213163G>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.1527G>T	5.37:g.149213163G>T						PPARGC1B_ENST00000360453.4_Silent_p.L470L|PPARGC1B_ENST00000394320.3_Silent_p.L509L|PPARGC1B_ENST00000403750.1_Silent_p.L445L	p.L509L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	1559	+			509					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.1527G>T	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	0.077	-1.191171	0.01607	.	.	ENSG00000155846	ENST00000434684	.	.	.	5.48	2.72	0.32119	.	.	.	.	.	T	0.34048	0.0884	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20907	-1.0261	4	.	.	.	-0.3028	7.3047	0.26440	0.1483:0.1383:0.7135:0.0	.	.	.	.	L	196	.	.	V	+	1	0	PPARGC1B	149193356	0.000000	0.05858	0.000000	0.03702	0.233000	0.25261	0.647000	0.24812	0.273000	0.22049	0.561000	0.74099	GTG		0.667	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		5	14	1	0	0.184627	1	0.184627	5	14				
DNTT	1791	broad.mit.edu	37	10	98092349	98092349	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr10:98092349C>T	ENST00000371174.2	+	9	1457	c.1355C>T	c.(1354-1356)tCc>tTc	p.S452F	DNTT_ENST00000419175.1_Missense_Mutation_p.S452F			P04053	TDT_HUMAN	DNA nucleotidylexotransferase	452	Mediates interaction with DNTTIP2.			S -> SP (in Ref. 2; AAA53100). {ECO:0000305}.	DNA modification (GO:0006304)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA nucleotidylexotransferase activity (GO:0003912)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGGACTGGCTCCCGGGTAAGT	0.582																																						ENST00000419175.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1354-1356)tCc>tTc		DNA nucleotidylexotransferase							200.0	174.0	183.0					10																	98092349		2203	4300	6503	SO:0001583	missense	1791				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr10:98092349C>T	AB046378	CCDS7447.1	10q23-q24	2013-05-21	2013-05-21		ENSG00000107447	ENSG00000107447	2.7.7.31	"""DNA polymerases"""	2983	protein-coding gene	gene with protein product	"""Terminal deoxynucleotidyltransferase"""	187410	"""deoxynucleotidyltransferase, terminal"""				Standard	NM_004088		Approved	TDT	uc001kmf.3	P04053	OTTHUMG00000018832	ENST00000371174.2:c.1355C>T	10.37:g.98092349C>T	ENSP00000360216:p.Ser452Phe					DNTT_ENST00000371174.2_Missense_Mutation_p.S452F	p.S452F	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)	9	1525	+		Colorectal(252;0.0815)|all_hematologic(284;0.224)	452	S -> SP (in Ref. 2; AAA53100).		Mediates interaction with DNTTIP2.		Q53FH1|Q5W103|Q96E50	Missense_Mutation	SNP	ENST00000371174.2	37	c.1355C>T	CCDS7447.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460946	0.84317	.	.	ENSG00000107447	ENST00000419175;ENST00000371174	T;T	0.58358	0.34;0.34	5.61	5.61	0.85477	DNA-directed DNA polymerase X (1);	0.000000	0.85682	D	0.000000	T	0.81781	0.4895	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87316	0.2315	10	0.87932	D	0	-14.3303	17.1115	0.86676	0.0:1.0:0.0:0.0	.	452;452	P04053-2;P04053	.;TDT_HUMAN	F	452	ENSP00000401169:S452F;ENSP00000360216:S452F	ENSP00000360216:S452F	S	+	2	0	DNTT	98082339	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	7.044000	0.76578	2.645000	0.89757	0.655000	0.94253	TCC		0.582	DNTT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049607.1	NM_004088		89	135	0	0	0	1	0	89	135				
BAI3	577	broad.mit.edu	37	6	69349299	69349299	+	Silent	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr6:69349299G>A	ENST00000370598.1	+	3	1553	c.732G>A	c.(730-732)agG>agA	p.R244R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	244					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCTTACCAGGGAGGCCAAGC	0.527																																						ENST00000370598.1																			0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(730-732)agG>agA		brain-specific angiogenesis inhibitor 3							19.0	19.0	19.0					6																	69349299		2197	4290	6487	SO:0001819	synonymous_variant	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349299G>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.732G>A	6.37:g.69349299G>A							p.R244R	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	1553	+		all_lung(197;0.212)	244					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	c.732G>A	CCDS4968.1																																																																																				0.527	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			10	30	0	0	0	1	0	10	30				
MYO15A	51168	broad.mit.edu	37	17	18039775	18039775	+	Silent	SNP	C	C	T	rs370537846		TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr17:18039775C>T	ENST00000205890.5	+	14	4979	c.4641C>T	c.(4639-4641)agC>agT	p.S1547S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1547	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGTGGAGAGCGCTGTGGATG	0.642																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(4639-4641)agC>agT		myosin XVA		C		1,4367		0,1,2183	72.0	81.0	78.0		4641	-7.7	0.9	17		78	0,8556		0,0,4278	no	coding-synonymous	MYO15A	NM_016239.3		0,1,6461	TT,TC,CC		0.0,0.0229,0.0077		1547/3531	18039775	1,12923	2184	4278	6462	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18039775C>T	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4641C>T	17.37:g.18039775C>T							p.S1547S	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			14	4979	+	all_neural(463;0.228)		1547			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.4641C>T	CCDS42271.1																																																																																				0.642	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		37	48	0	0	0	1	0	37	48				
GOLGB1	2804	broad.mit.edu	37	3	121435642	121435642	+	Silent	SNP	A	A	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr3:121435642A>T	ENST00000340645.5	-	9	1340	c.1215T>A	c.(1213-1215)ctT>ctA	p.L405L	GOLGB1_ENST00000393667.3_Silent_p.L410L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	405					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TATCTTGGAGAAGCTTTGAAT	0.433																																						ENST00000393667.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119						c.(1228-1230)ctT>ctA		golgin B1							110.0	100.0	103.0					3																	121435642		2203	4300	6503	SO:0001819	synonymous_variant	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121435642A>T	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.1215T>A	3.37:g.121435642A>T						GOLGB1_ENST00000340645.5_Silent_p.L405L	p.L410L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	9	1340	-			405					B2ZZ91|D3DN92|E7EP74|Q14398	Silent	SNP	ENST00000340645.5	37	c.1230T>A	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	A	1.660	-0.511655	0.04200	.	.	ENSG00000173230	ENST00000489400	.	.	.	5.8	-1.5	0.08691	.	.	.	.	.	T	0.50292	0.1607	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41413	-0.9510	4	.	.	.	.	5.7339	0.18055	0.3339:0.4741:0.192:0.0	.	.	.	.	Y	276	.	.	F	-	2	0	GOLGB1	122918332	0.399000	0.25287	0.818000	0.32626	0.149000	0.21700	-0.036000	0.12185	-0.143000	0.11334	0.528000	0.53228	TTC		0.433	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		65	106	0	0	0	1	0	65	106				
AXIN2	8313	broad.mit.edu	37	17	63554045	63554045	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr17:63554045C>G	ENST00000375702.5	-	1	802	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000307078.5_Missense_Mutation_p.E232Q			Q9Y2T1	AXIN2_HUMAN	axin 2	232					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTCCACTCCTCTTCTTCATTC	0.537									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													ENST00000307078.5																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						c.(694-696)Gag>Cag		axin 2							128.0	114.0	119.0					17																	63554045		2203	4300	6503	SO:0001583	missense	8313	Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63554045C>G	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.694G>C	17.37:g.63554045C>G	ENSP00000364854:p.Glu232Gln					AXIN2_ENST00000375702.5_Missense_Mutation_p.E232Q|CTD-2535L24.2_ENST00000577662.1_3'UTR	p.E232Q	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN			2	1007	-			232					Q3MJ88|Q9H3M6|Q9UH84	Missense_Mutation	SNP	ENST00000375702.5	37	c.694G>C		.	.	.	.	.	.	.	.	.	.	C	11.92	1.783113	0.31593	.	.	ENSG00000168646	ENST00000307078;ENST00000375702	T;T	0.66638	-0.22;-0.21	5.12	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.65987	0.94;0.885;0.94	T	0.80188	-0.1486	10	0.66056	D	0.02	-27.8429	13.5191	0.61557	0.0:0.9243:0.0:0.0757	.	232;232;232	B7ZKL5;Q9Y2T1;E7ES00	.;AXIN2_HUMAN;.	Q	232	ENSP00000302625:E232Q;ENSP00000364854:E232Q	ENSP00000302625:E232Q	E	-	1	0	AXIN2	60984507	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	7.703000	0.84585	1.149000	0.42402	0.455000	0.32223	GAG		0.537	AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655		44	73	0	0	0	1	0	44	73				
FUT7	2529	broad.mit.edu	37	9	139925703	139925703	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr9:139925703G>A	ENST00000314412.6	-	2	1506	c.488C>T	c.(487-489)tCg>tTg	p.S163L	C9orf139_ENST00000314330.2_Intron|ABCA2_ENST00000371605.3_5'Flank|ABCA2_ENST00000265662.5_5'Flank	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	163					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|leukocyte migration involved in immune response (GO:0002522)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CAGCGGTGGCGAGGGCCCCCA	0.682																																						ENST00000314412.6																			0				NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8						c.(487-489)tCg>tTg		fucosyltransferase 7 (alpha (1,3) fucosyltransferase)							12.0	16.0	14.0					9																	139925703		2162	4256	6418	SO:0001583	missense	2529				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr9:139925703G>A	X78031, AB012668	CCDS7022.1	9q34.3	2013-02-26			ENSG00000180549	ENSG00000180549		"""Fucosyltransferases"""	4018	protein-coding gene	gene with protein product		602030				8207002, 8182079	Standard	NM_004479		Approved		uc004ckq.2	Q11130	OTTHUMG00000020964	ENST00000314412.6:c.488C>T	9.37:g.139925703G>A	ENSP00000318142:p.Ser163Leu					C9orf139_ENST00000314330.2_Intron	p.S163L	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	2	1506	-	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	163					B2R7U7|Q6DK54	Missense_Mutation	SNP	ENST00000314412.6	37	c.488C>T	CCDS7022.1	.	.	.	.	.	.	.	.	.	.	g	4.011	-0.000604	0.07819	.	.	ENSG00000180549	ENST00000314412	T	0.23754	1.89	4.74	0.594	0.17485	.	0.871434	0.09923	U	0.738260	T	0.13200	0.0320	N	0.16656	0.425	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.34030	-0.9845	10	0.25106	T	0.35	-2.6979	4.5615	0.12163	0.3163:0.0:0.5431:0.1406	.	163	Q11130	FUT7_HUMAN	L	163	ENSP00000318142:S163L	ENSP00000318142:S163L	S	-	2	0	FUT7	139045524	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.315000	0.08081	0.081000	0.16988	-0.365000	0.07479	TCG		0.682	FUT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055220.1	NM_004479		16	17	0	0	0	1	0	16	17				
ABHD1	84696	broad.mit.edu	37	2	27352652	27352652	+	Silent	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr2:27352652C>T	ENST00000316470.4	+	6	762	c.648C>T	c.(646-648)gcC>gcT	p.A216A		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	216						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCACAGGCCAGGCAGGCTG	0.557																																						ENST00000316470.4																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(646-648)gcC>gcT		abhydrolase domain containing 1							74.0	79.0	77.0					2																	27352652		2203	4300	6503	SO:0001819	synonymous_variant	84696					integral to membrane	carboxylesterase activity	g.chr2:27352652C>T	AK093447	CCDS1736.1	2p23.3	2011-01-21			ENSG00000143994	ENSG00000143994		"""Abhydrolase domain containing"""	17553	protein-coding gene	gene with protein product		612195				11922611	Standard	NM_032604		Approved	LABH1, FLJ36128	uc002rit.3	Q96SE0	OTTHUMG00000097072	ENST00000316470.4:c.648C>T	2.37:g.27352652C>T							p.A216A	NM_032604.3	NP_115993.3	Q96SE0	ABHD1_HUMAN			6	762	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		216					B3KSF6|E9PDR9|Q05BY3|Q53SZ1|Q8IXQ7	Silent	SNP	ENST00000316470.4	37	c.648C>T	CCDS1736.1																																																																																				0.557	ABHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214188.1	NM_032604		29	45	0	0	0	1	0	29	45				
PTPRS	5802	broad.mit.edu	37	19	5265138	5265138	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr19:5265138C>T	ENST00000587303.1	-	4	548	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PTPRS_ENST00000357368.4_Missense_Mutation_p.R150Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.R150Q|PTPRS_ENST00000592099.1_Missense_Mutation_p.R150Q|PTPRS_ENST00000372412.4_Missense_Mutation_p.R150Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.R150Q|PTPRS_ENST00000262963.6_Missense_Mutation_p.R150Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.R150Q|PTPRS_ENST00000588552.1_5'UTR			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	150	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGTGGCTGTCCGTGTCCGCTC	0.602																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(448-450)cGg>cAg		protein tyrosine phosphatase, receptor type, S							175.0	128.0	144.0					19																	5265138		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5265138C>T	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.449G>A	19.37:g.5265138C>T	ENSP00000467537:p.Arg150Gln					PTPRS_ENST00000587303.1_Missense_Mutation_p.R150Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R150Q|PTPRS_ENST00000592099.1_Missense_Mutation_p.R150Q|PTPRS_ENST00000262963.6_Missense_Mutation_p.R150Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.R150Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.R150Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.R150Q	p.R150Q			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	5	682	-			150			Ig-like C2-type 2.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.449G>A	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970577	0.92919	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;D;D;T;T	0.95690	1.67;-3.78;-3.78;1.21;1.21	3.15	3.15	0.36227	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.195559	0.33875	U	0.004477	D	0.94735	0.8301	N	0.16567	0.415	0.31785	N	0.630349	B;B;D;D;B;D	0.76494	0.015;0.015;0.999;0.958;0.275;0.999	B;B;D;B;B;D	0.75020	0.006;0.001;0.963;0.329;0.03;0.985	D	0.94365	0.7591	10	0.62326	D	0.03	.	14.8674	0.70427	0.0:1.0:0.0:0.0	.	150;150;150;150;150;176	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	Q	176;150;150;150;150;150;150;150;150;150	ENSP00000361489:R150Q;ENSP00000349932:R150Q;ENSP00000262963:R150Q;ENSP00000269907:R150Q;ENSP00000327313:R150Q	ENSP00000262963:R150Q	R	-	2	0	PTPRS	5216138	1.000000	0.71417	0.980000	0.43619	0.943000	0.58893	5.799000	0.69101	1.795000	0.52594	0.456000	0.33151	CGG		0.602	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			28	37	0	0	0	1	0	28	37				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	55	0	0	0	1	0	4	55				
PRAMEF7	441871	broad.mit.edu	37	1	12979758	12979758	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:12979758G>A	ENST00000361079.2	+	4	1033	c.950G>A	c.(949-951)aGc>aAc	p.S317N	RNU6-1072P_ENST00000384703.1_RNA			Q5VXH5	PRAM7_HUMAN	PRAME family member 7	317					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTGCCCGAGCATCCGTCAA	0.577																																						ENST00000361079.2																			0				endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18						c.(949-951)aGc>aAc		PRAME family member 7							73.0	68.0	70.0					1																	12979758		2202	4296	6498	SO:0001583	missense	441871							g.chr1:12979758G>A		CCDS30593.1	1p36.21	2013-01-17			ENSG00000204510	ENSG00000204510		"""-"""	28415	protein-coding gene	gene with protein product							Standard	NM_001012277		Approved			Q5VXH5	OTTHUMG00000001982	ENST00000361079.2:c.950G>A	1.37:g.12979758G>A	ENSP00000354371:p.Ser317Asn						p.S317N						UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1033	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)						B9EIP0	Missense_Mutation	SNP	ENST00000361079.2	37	c.950G>A	CCDS30593.1	.	.	.	.	.	.	.	.	.	.	.	5.327	0.245582	0.10077	.	.	ENSG00000204510	ENST00000361079;ENST00000330881	T;T	0.04706	3.57;3.57	1.47	-2.93	0.05598	.	0.859883	0.10533	N	0.663629	T	0.06188	0.0160	N	0.21324	0.655	0.09310	N	1	D	0.76494	0.999	D	0.85130	0.997	T	0.14839	-1.0458	10	0.08381	T	0.77	.	2.9382	0.05822	0.3486:0.0:0.4473:0.2041	.	317	Q5VXH5	PRAM7_HUMAN	N	317	ENSP00000354371:S317N;ENSP00000328915:S317N	ENSP00000328915:S317N	S	+	2	0	PRAMEF7	12902345	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.418000	0.02462	-1.000000	0.03438	-0.699000	0.03677	AGC		0.577	PRAMEF7-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012277		35	227	0	0	0	1	0	35	227				
TTN	7273	broad.mit.edu	37	2	179432589	179432589	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr2:179432589G>C	ENST00000591111.1	-	276	73571	c.73347C>G	c.(73345-73347)gaC>gaG	p.D24449E	TTN_ENST00000359218.5_Missense_Mutation_p.D17150E|TTN_ENST00000460472.2_Missense_Mutation_p.D17025E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17217E|TTN_ENST00000342992.6_Missense_Mutation_p.D23522E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D26090E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24449					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTGGTGGGTCACAGGGAT	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(78268-78270)gaC>gaG		titin							195.0	186.0	189.0					2																	179432589		1878	4111	5989	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179432589G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.73347C>G	2.37:g.179432589G>C	ENSP00000465570:p.Asp24449Glu					TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D17150E|TTN_ENST00000342175.6_Missense_Mutation_p.D17217E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D23522E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24449E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D17025E	p.D26090E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	78494	-			24449			Ig-like 126.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.78270C>G		.	.	.	.	.	.	.	.	.	.	G	8.833	0.940261	0.18281	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.58	4.7	0.59300	Fibronectin, type III (3);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58352	0.2116	M	0.66939	2.045	0.47276	D	0.999373	D;D;D;D	0.76494	0.996;0.996;0.996;0.999	D;D;D;D	0.70227	0.915;0.915;0.915;0.968	T	0.61168	-0.7117	9	0.87932	D	0	.	8.8175	0.35004	0.2781:0.0:0.7219:0.0	.	17025;17150;17217;24449	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	23522;17025;17217;17150;17023	ENSP00000343764:D23522E;ENSP00000434586:D17025E;ENSP00000340554:D17217E;ENSP00000352154:D17150E	ENSP00000340554:D17217E	D	-	3	2	TTN	179140835	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.839000	0.39220	1.336000	0.45506	0.555000	0.69702	GAC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		128	170	0	0	0	1	0	128	170				
BOC	91653	broad.mit.edu	37	3	112989706	112989706	+	Missense_Mutation	SNP	C	C	G	rs140032333		TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr3:112989706C>G	ENST00000495514.1	+	6	1286	c.582C>G	c.(580-582)gaC>gaG	p.D194E	BOC_ENST00000273395.4_Missense_Mutation_p.D194E|BOC_ENST00000355385.3_Missense_Mutation_p.D194E			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	194	Ig-like C2-type 2.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCCAGGAGGACGAGGGCATGT	0.607																																						ENST00000495514.1																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(580-582)gaC>gaG		BOC cell adhesion associated, oncogene regulated							145.0	137.0	140.0					3																	112989706		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112989706C>G	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.582C>G	3.37:g.112989706C>G	ENSP00000418663:p.Asp194Glu					BOC_ENST00000273395.4_Missense_Mutation_p.D194E|BOC_ENST00000355385.3_Missense_Mutation_p.D194E	p.D194E			Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		6	1286	+			194			Ig-like C2-type 2.		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.582C>G	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156898	0.78114	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	D;D;D	0.86297	-2.1;-2.1;-2.1	5.8	-5.28	0.02755	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93203	0.7835	M	0.91354	3.2	0.45541	D	0.998499	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.92629	0.6114	10	0.72032	D	0.01	.	15.4271	0.75061	0.0:0.2664:0.0:0.7336	.	194;194	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	E	194	ENSP00000418663:D194E;ENSP00000273395:D194E;ENSP00000347546:D194E	ENSP00000273395:D194E	D	+	3	2	BOC	114472396	0.004000	0.15560	0.852000	0.33557	0.984000	0.73092	-1.463000	0.02361	-0.995000	0.03459	-0.742000	0.03525	GAC		0.607	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	NM_033254		51	79	0	0	0	1	0	51	79				
OR2T3	343173	broad.mit.edu	37	1	248637363	248637363	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:248637363G>A	ENST00000359594.2	+	1	737	c.712G>A	c.(712-714)Ggc>Agc	p.G238S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCTGCCGCCGGCCACAGGAA	0.562																																						ENST00000359594.2																			0				breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31						c.(712-714)Ggc>Agc		olfactory receptor, family 2, subfamily T, member 3							194.0	164.0	174.0					1																	248637363		2201	4296	6497	SO:0001583	missense	343173				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248637363G>A		CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.712G>A	1.37:g.248637363G>A	ENSP00000352604:p.Gly238Ser						p.G238S	NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	737	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		238					B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	c.712G>A	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	g	13.48	2.249959	0.39797	.	.	ENSG00000196539	ENST00000359594	T	0.00372	7.73	2.37	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	M	0.84219	2.685	0.09310	N	1	P	0.45672	0.864	P	0.48738	0.588	T	0.42816	-0.9429	9	0.49607	T	0.09	.	10.4397	0.44457	0.0:0.0:1.0:0.0	.	238	Q8NH03	OR2T3_HUMAN	S	238	ENSP00000352604:G238S	ENSP00000352604:G238S	G	+	1	0	OR2T3	246703986	0.000000	0.05858	0.018000	0.16275	0.029000	0.11900	0.426000	0.21363	1.014000	0.39417	0.186000	0.17326	GGC		0.562	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495		93	135	0	0	0	1	0	93	135				
ACTG2	72	broad.mit.edu	37	2	74128448	74128448	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr2:74128448G>A	ENST00000409624.1	+	3	653	c.10G>A	c.(10-12)Gag>Aag	p.E4K	ACTG2_ENST00000345517.3_Missense_Mutation_p.E4K|ACTG2_ENST00000409731.3_Missense_Mutation_p.E4K|ACTG2_ENST00000409918.1_Missense_Mutation_p.E4K			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	4					muscle contraction (GO:0006936)	blood microparticle (GO:0072562)|cell periphery (GO:0071944)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			large_intestine(3)|lung(14)|skin(1)	18						CATGTGTGAAGAGGAGACCAC	0.582																																						ENST00000409624.1																			0				large_intestine(3)|lung(14)|skin(1)	18						c.(10-12)Gag>Aag		actin, gamma 2, smooth muscle, enteric							62.0	53.0	56.0					2																	74128448		2203	4300	6503	SO:0001583	missense	72				muscle contraction	cytoskeleton|cytosol	ATP binding	g.chr2:74128448G>A		CCDS1930.1, CCDS56124.1	2p13.1	2008-05-20			ENSG00000163017	ENSG00000163017			145	protein-coding gene	gene with protein product		102545		ACTL3, ACTA3		1710027, 1673027	Standard	NM_001199893		Approved	ACTSG	uc002sjw.3	P63267	OTTHUMG00000129813	ENST00000409624.1:c.10G>A	2.37:g.74128448G>A	ENSP00000386857:p.Glu4Lys					ACTG2_ENST00000409918.1_Missense_Mutation_p.E4K|ACTG2_ENST00000409731.3_Missense_Mutation_p.E4K|ACTG2_ENST00000345517.3_Missense_Mutation_p.E4K	p.E4K			P63267	ACTH_HUMAN			3	653	+			4					B2R7E7|B4E315|D6W5H8|E9PG30|P12718|Q504R1|Q6FI22	Missense_Mutation	SNP	ENST00000409624.1	37	c.10G>A	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.496311	0.64186	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000409918;ENST00000442912;ENST00000409624	D;D;D;D;D	0.94931	-3.56;-3.48;-3.48;-3.48;-3.48	3.93	3.93	0.45458	.	0.073227	0.52532	D	0.000080	D	0.97380	0.9143	M	0.91561	3.22	0.49687	D	0.999812	B;P;B	0.50066	0.224;0.931;0.224	B;P;P	0.61722	0.206;0.604;0.893	D	0.98391	1.0563	10	0.87932	D	0	.	15.2323	0.73401	0.0:0.0:1.0:0.0	.	4;4;4	E9PG30;B8ZZJ2;P63267	.;.;ACTH_HUMAN	K	4	ENSP00000386929:E4K;ENSP00000295137:E4K;ENSP00000387182:E4K;ENSP00000410020:E4K;ENSP00000386857:E4K	ENSP00000295137:E4K	E	+	1	0	ACTG2	73981956	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	9.560000	0.98139	2.199000	0.70637	0.305000	0.20034	GAG		0.582	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	NM_001615		17	38	0	0	0	1	0	17	38				
TM6SF1	53346	broad.mit.edu	37	15	83793513	83793513	+	Silent	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr15:83793513C>T	ENST00000322019.9	+	7	967	c.693C>T	c.(691-693)tgC>tgT	p.C231C	TM6SF1_ENST00000565774.1_Silent_p.C231C|TM6SF1_ENST00000379386.4_Silent_p.C234C|TM6SF1_ENST00000379390.6_Intron			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	231						integral component of membrane (GO:0016021)				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGGATTTTGCCTGTTCAGAG	0.363																																						ENST00000322019.9																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(691-693)tgC>tgT		transmembrane 6 superfamily member 1							180.0	156.0	164.0					15																	83793513		2203	4300	6503	SO:0001819	synonymous_variant	53346					integral to membrane		g.chr15:83793513C>T	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.693C>T	15.37:g.83793513C>T						TM6SF1_ENST00000379386.4_Silent_p.C234C|TM6SF1_ENST00000379390.6_Intron|TM6SF1_ENST00000565774.1_Silent_p.C231C	p.C231C			Q9BZW5	TM6S1_HUMAN			7	967	+			231					A8K7T5|H3BU56|Q4U0U5	Silent	SNP	ENST00000322019.9	37	c.693C>T	CCDS10323.1																																																																																				0.363	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		4	94	0	0	0	1	0	4	94				
ZNF728	388523	broad.mit.edu	37	19	23159455	23159455	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr19:23159455G>C	ENST00000594710.1	-	4	829	c.684C>G	c.(682-684)tgC>tgG	p.C228W		NM_001267716.1	NP_001254645.1	P0DKX0	ZN728_HUMAN	zinc finger protein 728	228					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										CTTCACATTTGCAGGGTTTCT	0.373																																						ENST00000594710.1																			0											c.(682-684)tgC>tgG		zinc finger protein 728																																				SO:0001583	missense	388523							g.chr19:23159455G>C	BC128130	CCDS59370.1	19p12	2014-02-14			ENSG00000269067	ENSG00000269067		"""Zinc fingers, C2H2-type"", ""-"""	32463	protein-coding gene	gene with protein product							Standard	NM_001267716		Approved		uc002nqz.2	P0DKX0	OTTHUMG00000183124	ENST00000594710.1:c.684C>G	19.37:g.23159455G>C	ENSP00000471593:p.Cys228Trp						p.C228W	NM_001267716.1	NP_001254645.1					4	829	-									Missense_Mutation	SNP	ENST00000594710.1	37	c.684C>G	CCDS59370.1																																																																																				0.373	ZNF728-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465176.1	NM_001267716		27	59	0	0	0	1	0	27	59				
LAMB2	3913	broad.mit.edu	37	3	49167739	49167739	+	Missense_Mutation	SNP	G	G	A	rs574123999		TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr3:49167739G>A	ENST00000418109.1	-	10	1314	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R384C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	384	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCACAGTGGCGCCCAGCTGTG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19854	0.0		0.0	False		,,,				2504	0.0					ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1150-1152)Cgc>Tgc		laminin, beta 2 (laminin S)							104.0	87.0	93.0					3																	49167739		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49167739G>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1150C>T	3.37:g.49167739G>A	ENSP00000388325:p.Arg384Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.R384C	p.R384C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	10	1314	-			384			Laminin EGF-like 2.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1150C>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639927	0.67244	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.63913	-0.07;-0.07	5.17	4.24	0.50183	EGF-like, laminin (4);	0.726830	0.13423	N	0.388990	T	0.74268	0.3694	M	0.82056	2.57	0.51482	D	0.999929	D	0.63046	0.992	P	0.53490	0.727	T	0.75337	-0.3353	10	0.42905	T	0.14	.	15.2703	0.73696	0.0:0.0:0.8596:0.1404	.	384	P55268	LAMB2_HUMAN	C	384	ENSP00000388325:R384C;ENSP00000307156:R384C	ENSP00000307156:R384C	R	-	1	0	LAMB2	49142743	0.883000	0.30277	0.779000	0.31741	0.751000	0.42716	4.526000	0.60566	2.553000	0.86117	0.591000	0.81541	CGC		0.607	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		25	12	0	0	0	1	0	25	12				
DPYS	1807	broad.mit.edu	37	8	105456579	105456579	+	Silent	SNP	C	C	T	rs374805521		TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr8:105456579C>T	ENST00000351513.2	-	4	822	c.690G>A	c.(688-690)acG>acA	p.T230T		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	230					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGCTCTCAGCGTGGCCTCTG	0.562																																						ENST00000351513.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(688-690)acG>acA		dihydropyrimidinase		C		0,4406		0,0,2203	89.0	78.0	82.0		690	-3.5	1.0	8		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	DPYS	NM_001385.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		230/520	105456579	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105456579C>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.690G>A	8.37:g.105456579C>T							p.T230T	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	822	-			230						Silent	SNP	ENST00000351513.2	37	c.690G>A	CCDS6302.1																																																																																				0.562	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385		44	66	0	0	0	1	0	44	66				
KCNV2	169522	broad.mit.edu	37	9	2718573	2718573	+	Silent	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr9:2718573G>A	ENST00000382082.3	+	1	1072	c.834G>A	c.(832-834)gcG>gcA	p.A278A		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	278					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		TGGCGCTGGCGCTCAACACCG	0.677																																						ENST00000382082.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35						c.(832-834)gcG>gcA		potassium channel, subfamily V, member 2							24.0	22.0	22.0					9																	2718573		2200	4294	6494	SO:0001819	synonymous_variant	169522					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr9:2718573G>A	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.834G>A	9.37:g.2718573G>A							p.A278A	NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN		GBM - Glioblastoma multiforme(50;0.0257)	1	1072	+			278					Q5T6X0	Silent	SNP	ENST00000382082.3	37	c.834G>A	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	6.008	0.369959	0.11352	.	.	ENSG00000168263	ENST00000423608	.	.	.	5.05	-3.49	0.04724	.	0.111909	0.64402	D	0.000006	T	0.25121	0.0610	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.11324	-1.0592	6	0.09590	T	0.72	.	1.8257	0.03120	0.4571:0.2261:0.1488:0.168	.	.	.	.	T	229	.	ENSP00000409635:A229T	A	+	1	0	KCNV2	2708573	0.002000	0.14202	0.971000	0.41717	0.716000	0.41182	-1.243000	0.02905	-0.604000	0.05760	-0.219000	0.12488	GCT		0.677	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497		24	15	0	0	0	1	0	24	15				
PTGER3	5733	broad.mit.edu	37	1	71478083	71478083	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:71478083A>T	ENST00000306666.5	-	2	1192	c.982T>A	c.(982-984)Ttc>Atc	p.F328I	PTGER3_ENST00000356595.4_Missense_Mutation_p.F328I|PTGER3_ENST00000370932.2_Missense_Mutation_p.F328I|PTGER3_ENST00000460330.1_Missense_Mutation_p.F328I|PTGER3_ENST00000370924.4_Missense_Mutation_p.F328I|PTGER3_ENST00000351052.5_Missense_Mutation_p.F328I|PTGER3_ENST00000370931.3_Missense_Mutation_p.F328I|PTGER3_ENST00000354608.5_Missense_Mutation_p.F328I|PTGER3_ENST00000414819.1_Missense_Mutation_p.F328I	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	328					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCTATTAAGAAGAAGTTGCAT	0.423																																						ENST00000370924.4																			0				endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(982-984)Ttc>Atc		prostaglandin E receptor 3 (subtype EP3)	Bimatoprost(DB00905)						116.0	110.0	112.0					1																	71478083		2203	4300	6503	SO:0001583	missense	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71478083A>T	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.982T>A	1.37:g.71478083A>T	ENSP00000302313:p.Phe328Ile					PTGER3_ENST00000356595.4_Missense_Mutation_p.F328I|PTGER3_ENST00000351052.5_Missense_Mutation_p.F328I|PTGER3_ENST00000354608.5_Missense_Mutation_p.F328I|PTGER3_ENST00000306666.5_Missense_Mutation_p.F328I|PTGER3_ENST00000414819.1_Missense_Mutation_p.F328I|PTGER3_ENST00000370932.2_Missense_Mutation_p.F328I|PTGER3_ENST00000460330.1_Missense_Mutation_p.F328I|PTGER3_ENST00000370931.3_Missense_Mutation_p.F328I	p.F328I	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN			2	1212	-			328					B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Missense_Mutation	SNP	ENST00000306666.5	37	c.982T>A	CCDS657.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.181271	0.78677	.	.	ENSG00000050628	ENST00000370931;ENST00000370932;ENST00000351052;ENST00000460330;ENST00000370934;ENST00000354608;ENST00000356595;ENST00000414819;ENST00000306666;ENST00000370924	T;T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.65	5.65	0.86999	GPCR, rhodopsin-like superfamily (1);	0.114843	0.64402	D	0.000012	T	0.63721	0.2535	L	0.48642	1.525	0.80722	D	1	P;D;P;D;D;P;P;D	0.52996	0.926;0.957;0.845;0.957;0.957;0.947;0.947;0.957	P;P;P;P;P;P;P;P	0.52646	0.705;0.705;0.58;0.705;0.705;0.58;0.58;0.705	T	0.61912	-0.6965	10	0.21540	T	0.41	-28.6373	15.525	0.75898	1.0:0.0:0.0:0.0	.	328;328;328;328;328;328;328;328	Q147U0;Q6TTN3;F5H821;B1AK19;Q147X8;P43115-3;P43115-4;P43115	.;.;.;.;.;.;.;PE2R3_HUMAN	I	328	ENSP00000359969:F328I;ENSP00000359970:F328I;ENSP00000280208:F328I;ENSP00000418073:F328I;ENSP00000346624:F328I;ENSP00000349003:F328I;ENSP00000401423:F328I;ENSP00000302313:F328I;ENSP00000359962:F328I	ENSP00000302313:F328I	F	-	1	0	PTGER3	71250671	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.611000	0.90905	2.156000	0.67533	0.402000	0.26972	TTC		0.423	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		33	43	0	0	0	1	0	33	43				
STAT3	6774	broad.mit.edu	37	17	40481604	40481604	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr17:40481604T>C	ENST00000264657.5	-	13	1513	c.1201A>G	c.(1201-1203)Aac>Gac	p.N401D	STAT3_ENST00000588969.1_Missense_Mutation_p.N401D|STAT3_ENST00000389272.3_Missense_Mutation_p.N303D|STAT3_ENST00000585517.1_Missense_Mutation_p.N401D|STAT3_ENST00000404395.3_Missense_Mutation_p.N401D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	401					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AGGCTGCCGTTGTTGGATTCT	0.498									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1201-1203)Aac>Gac		signal transducer and activator of transcription 3 (acute-phase response factor)							122.0	120.0	121.0					17																	40481604		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40481604T>C	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1201A>G	17.37:g.40481604T>C	ENSP00000264657:p.Asn401Asp					STAT3_ENST00000389272.3_Missense_Mutation_p.N303D|STAT3_ENST00000588969.1_Missense_Mutation_p.N401D|STAT3_ENST00000404395.3_Missense_Mutation_p.N401D|STAT3_ENST00000585517.1_Missense_Mutation_p.N401D	p.N401D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	13	1513	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	401					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1201A>G	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	T	35	5.563481	0.96527	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.87966	-2.32;-2.32;-2.32	6.02	6.02	0.97574	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	M	0.78049	2.395	0.80722	D	1	P;P;P	0.44309	0.799;0.832;0.832	P;P;P	0.61132	0.815;0.884;0.884	D	0.93294	0.6671	10	0.62326	D	0.03	-11.6636	16.5446	0.84426	0.0:0.0:0.0:1.0	.	401;401;401	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	D	401;303;401	ENSP00000264657:N401D;ENSP00000373923:N303D;ENSP00000384943:N401D	ENSP00000264657:N401D	N	-	1	0	STAT3	37735130	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	8.040000	0.89188	2.311000	0.77944	0.533000	0.62120	AAC		0.498	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		95	98	0	0	0	1	0	95	98				
SPATA21	374955	broad.mit.edu	37	1	16725272	16725272	+	Silent	SNP	A	A	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:16725272A>T	ENST00000335496.1	-	13	1880	c.1398T>A	c.(1396-1398)gcT>gcA	p.A466A	SPATA21_ENST00000466212.1_Intron|SPATA21_ENST00000540400.1_Silent_p.A443A	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	466							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		AGTGGGTTCGAGCTGGCACAG	0.587																																						ENST00000335496.1																			0				breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19						c.(1396-1398)gcT>gcA		spermatogenesis associated 21							115.0	102.0	106.0					1																	16725272		2203	4300	6503	SO:0001819	synonymous_variant	374955						calcium ion binding	g.chr1:16725272A>T		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1398T>A	1.37:g.16725272A>T						SPATA21_ENST00000466212.1_Intron|SPATA21_ENST00000540400.1_Silent_p.A443A	p.A466A	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	13	1880	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	466					B9EK40|F5GXP5	Silent	SNP	ENST00000335496.1	37	c.1398T>A	CCDS172.1																																																																																				0.587	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		22	39	0	0	0	1	0	22	39				
CCDC136	64753	broad.mit.edu	37	7	128452143	128452143	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr7:128452143A>G	ENST00000297788.4	+	13	2685	c.2318A>G	c.(2317-2319)tAc>tGc	p.Y773C	CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	773	Ser-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGAGCTATTACAAGAGTTAC	0.502																																						ENST00000297788.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						c.(2317-2319)tAc>tGc		coiled-coil domain containing 136							91.0	91.0	91.0					7																	128452143		2106	4241	6347	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128452143A>G		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2318A>G	7.37:g.128452143A>G	ENSP00000297788:p.Tyr773Cys					CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000464832.1_Intron	p.Y773C	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN			13	2685	+			773			Ser-rich.		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.2318A>G	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.810|7.810	0.715485|0.715485	0.15306|0.15306	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000494552|ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	.|T;T	.|0.43294	.|0.95;0.95	5.21|5.21	-2.22|-2.22	0.06952|0.06952	.|.	.|1.504480	.|0.03490	.|N	.|0.216487	T|T	0.15696|0.15696	0.0378|0.0378	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.01281	.|0.0;0.0;0.0	T|T	0.14062|0.14062	-1.0486|-1.0486	5|10	.|0.52906	.|T	.|0.07	0.2496|0.2496	0.3277|0.3277	0.00314|0.00314	0.4011:0.1473:0.1665:0.285|0.4011:0.1473:0.1665:0.285	.|.	.|773;773;773	.|Q96JN2-4;Q96JN2-2;Q96JN2	.|.;.;CC136_HUMAN	A|C	650|773;773;773;364	.|ENSP00000297788:Y773C;ENSP00000417991:Y364C	.|ENSP00000297788:Y773C	T|Y	+|+	1|2	0|0	CCDC136|CCDC136	128239379|128239379	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	0.157000|0.157000	0.16402|0.16402	-0.190000|-0.190000	0.10465|0.10465	-2.384000|-2.384000	0.00231|0.00231	ACA|TAC		0.502	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		28	48	0	0	0	1	0	28	48				
BRINP1	1620	broad.mit.edu	37	9	121929549	121929549	+	Missense_Mutation	SNP	C	C	T	rs527860111		TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr9:121929549C>T	ENST00000265922.3	-	8	2560	c.2099G>A	c.(2098-2100)cGg>cAg	p.R700Q	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	700					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)											AATTCGGTCCCGAATATCCAA	0.572																																						ENST00000265922.3																			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.(2098-2100)cGg>cAg									106.0	107.0	107.0					9																	121929549		2203	4300	6503	SO:0001583	missense	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929549C>T	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.2099G>A	9.37:g.121929549C>T	ENSP00000265922:p.Arg700Gln					DBC1_ENST00000482797.1_Intron	p.R700Q	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN			8	2560	-			700					Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	ENST00000265922.3	37	c.2099G>A	CCDS6822.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655871	0.88056	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.19938	2.11	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.44371	0.1290	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.26608	-1.0098	10	0.87932	D	0	-26.114	19.9695	0.97278	0.0:1.0:0.0:0.0	.	700	O60477	DBC1_HUMAN	Q	700	ENSP00000265922:R700Q	ENSP00000265922:R700Q	R	-	2	0	DBC1	120969370	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.799000	0.96334	0.650000	0.86243	CGG		0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		9	130	0	0	0	1	0	9	130				
CPXCR1	53336	broad.mit.edu	37	X	88008757	88008757	+	Silent	SNP	A	A	C			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chrX:88008757A>C	ENST00000276127.4	+	3	601	c.342A>C	c.(340-342)tcA>tcC	p.S114S	CPXCR1_ENST00000373111.1_Silent_p.S114S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	114							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GATCCCACTCAGGGAAAGTTG	0.393																																						ENST00000276127.4																			0				NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						c.(340-342)tcA>tcC		CPX chromosome region, candidate 1							45.0	40.0	42.0					X																	88008757		2203	4300	6503	SO:0001819	synonymous_variant	53336					intracellular	zinc ion binding	g.chrX:88008757A>C	AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.342A>C	X.37:g.88008757A>C						CPXCR1_ENST00000373111.1_Silent_p.S114S	p.S114S	NM_033048.5	NP_149037.4	Q8N123	CPXCR_HUMAN			3	601	+			114					B2R9F9|D3DTE7|Q96RS3	Silent	SNP	ENST00000276127.4	37	c.342A>C	CCDS14458.1																																																																																				0.393	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		31	4	0	0	0	1	0	31	4				
MAGI2	9863	broad.mit.edu	37	7	77797326	77797326	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr7:77797326C>T	ENST00000354212.4	-	15	2756	c.2503G>A	c.(2503-2505)Ggc>Agc	p.G835S	MAGI2_ENST00000522391.1_Missense_Mutation_p.G835S|MAGI2_ENST00000419488.1_Missense_Mutation_p.G821S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	835	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)	p.G835S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGGGTTTTGCCGGCTACTGGA	0.537																																						ENST00000354212.4																			1	Substitution - Missense(1)	p.G835S(1)	large_intestine(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2503-2505)Ggc>Agc		membrane associated guanylate kinase, WW and PDZ domain containing 2							164.0	148.0	153.0					7																	77797326		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797326C>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2503G>A	7.37:g.77797326C>T	ENSP00000346151:p.Gly835Ser					MAGI2_ENST00000419488.1_Missense_Mutation_p.G821S|MAGI2_ENST00000522391.1_Missense_Mutation_p.G835S	p.G835S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			15	2756	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	835			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2503G>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	36	5.925043	0.97110	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.54071	0.59;0.74;0.74	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.37261	U	0.002175	T	0.66597	0.2805	L	0.61036	1.89	0.80722	D	1	P;D;P	0.62365	0.691;0.991;0.881	B;P;B	0.54965	0.227;0.765;0.227	T	0.67348	-0.5693	10	0.66056	D	0.02	.	19.4074	0.94653	0.0:1.0:0.0:0.0	.	835;821;835	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	S	821;835;835;835	ENSP00000405766:G821S;ENSP00000346151:G835S;ENSP00000428389:G835S	ENSP00000346151:G835S	G	-	1	0	MAGI2	77635262	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	GGC		0.537	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		4	184	0	0	0	1	0	4	184				
CDH23	64072	broad.mit.edu	37	10	73326535	73326535	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr10:73326535G>A	ENST00000224721.6	+	6	486	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	CDH23_ENST00000398842.3_Missense_Mutation_p.A156T|CDH23_ENST00000461841.3_Missense_Mutation_p.A201T|CDH23_ENST00000398809.4_Missense_Mutation_p.A156T|CDH23_ENST00000299366.7_Missense_Mutation_p.A201T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	156	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCGTGAATGCCACAGACCC	0.612																																						ENST00000224721.6																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(481-483)Gcc>Acc		cadherin-related 23							44.0	48.0	47.0					10																	73326535		2049	4199	6248	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73326535G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.481G>A	10.37:g.73326535G>A	ENSP00000224721:p.Ala161Thr					CDH23_ENST00000398842.3_Missense_Mutation_p.A156T|CDH23_ENST00000461841.3_Missense_Mutation_p.A201T|CDH23_ENST00000398809.4_Missense_Mutation_p.A156T|CDH23_ENST00000299366.7_Missense_Mutation_p.A201T	p.A161T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN			6	486	+			156			Cadherin 2.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.481G>A		.	.	.	.	.	.	.	.	.	.	G	26.3	4.728872	0.89390	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000398828;ENST00000398809;ENST00000398842;ENST00000299366;ENST00000224721;ENST00000416060	T;T	0.61392	0.11;0.11	5.28	5.28	0.74379	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000006	T	0.80974	0.4727	M	0.89095	3.005	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.97110	1.0;0.994;0.994;0.997	D	0.84786	0.0776	10	0.87932	D	0	.	18.9153	0.92503	0.0:0.0:1.0:0.0	.	156;156;156;156	A5D6V9;Q9H251;Q9H251-5;E7ESV7	.;CAD23_HUMAN;.;.	T	161;156;156;156;156;161;161;97	ENSP00000381789:A156T;ENSP00000381822:A156T	ENSP00000224721:A161T	A	+	1	0	CDH23	72996541	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	9.434000	0.97515	2.484000	0.83849	0.561000	0.74099	GCC		0.612	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		20	18	0	0	0	1	0	20	18				
LYST	1130	broad.mit.edu	37	1	235945231	235945231	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:235945231G>T	ENST00000389794.3	-	15	5193	c.5019C>A	c.(5017-5019)ttC>ttA	p.F1673L	LYST_ENST00000389793.2_Missense_Mutation_p.F1673L|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1673					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			actcaccgttgaaGAGAAGCA	0.403																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(5017-5019)ttC>ttA		lysosomal trafficking regulator							81.0	78.0	79.0					1																	235945231		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235945231G>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.5019C>A	1.37:g.235945231G>T	ENSP00000374444:p.Phe1673Leu					LYST_ENST00000389793.2_Missense_Mutation_p.F1673L|LYST_ENST00000536965.1_3'UTR	p.F1673L			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		15	5193	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1673					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.5019C>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732095	0.69189	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.77489	-1.1;-1.1	5.09	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	M	0.66939	2.045	0.80722	D	1	P	0.44734	0.842	B	0.40982	0.345	T	0.76664	-0.2876	10	0.87932	D	0	.	9.6937	0.40145	0.1614:0.0:0.8386:0.0	.	1673	Q99698	LYST_HUMAN	L	1673	ENSP00000374444:F1673L;ENSP00000374443:F1673L	ENSP00000374443:F1673L	F	-	3	2	LYST	234011854	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	0.710000	0.25748	1.268000	0.44264	0.650000	0.86243	TTC		0.403	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			36	42	1	0	6.04917e-29	1	7.11043e-29	36	42				
SLC32A1	140679	broad.mit.edu	37	20	37357219	37357219	+	Silent	SNP	G	G	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr20:37357219G>A	ENST00000217420.1	+	2	1778	c.1515G>A	c.(1513-1515)gtG>gtA	p.V505V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	505					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TCTGCAGCGTGTCCGGCTTCG	0.657																																						ENST00000217420.1																			0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(1513-1515)gtG>gtA		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						20.0	19.0	19.0					20																	37357219		2200	4299	6499	SO:0001819	synonymous_variant	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37357219G>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.1515G>A	20.37:g.37357219G>A							p.V505V	NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN			2	1778	+		Myeloproliferative disorder(115;0.00878)	505					Q8N489	Silent	SNP	ENST00000217420.1	37	c.1515G>A	CCDS13307.1																																																																																				0.657	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	NM_080552		4	43	0	0	0	1	0	4	43				
RP11-154H17.1	0	broad.mit.edu	37	1	5719022	5719022	+	lincRNA	DEL	C	C	-			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:5719022delC	ENST00000413887.1	-	0	155																											CCCCAGGACACCCCCCACTCC	0.632																																						ENST00000413887.1																			0																																																			0							g.chr1:5719022delC																													1.37:g.5719022delC														0	155	-									RNA	DEL	ENST00000413887.1	37																																																																																						0.632	RP11-154H17.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099317.1			2	4						2	4	---	---	---	---
ECE1	1889	broad.mit.edu	37	1	21605732	21605732	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr1:21605732C>A	ENST00000374893.6	-	3	306	c.232G>T	c.(232-234)Gca>Tca	p.A78S	ECE1_ENST00000264205.6_Missense_Mutation_p.A75S|ECE1_ENST00000357071.4_Missense_Mutation_p.A66S|ECE1_ENST00000415912.2_Missense_Mutation_p.A62S|ECE1_ENST00000436918.2_Missense_Mutation_p.A78S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	78					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ACCAGTCCTGCCGCCAGAAGT	0.637																																						ENST00000415912.2																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25						c.(184-186)Gca>Tca		endothelin converting enzyme 1							119.0	101.0	107.0					1																	21605732		2203	4300	6503	SO:0001583	missense	1889				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity	g.chr1:21605732C>A	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.232G>T	1.37:g.21605732C>A	ENSP00000364028:p.Ala78Ser					ECE1_ENST00000436918.2_Missense_Mutation_p.A78S|ECE1_ENST00000374893.6_Missense_Mutation_p.A78S|ECE1_ENST00000357071.4_Missense_Mutation_p.A66S|ECE1_ENST00000264205.6_Missense_Mutation_p.A75S	p.A62S	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)	3	309	-		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	78					A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	c.184G>T	CCDS215.1	.	.	.	.	.	.	.	.	.	.	c	13.10	2.135861	0.37728	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205;ENST00000481130;ENST00000527991	D;D;D;D;D;D	0.92911	-1.66;-1.67;-1.66;-1.6;-1.66;-3.13	5.69	2.61	0.31194	.	0.816647	0.11333	N	0.574868	D	0.90459	0.7012	L	0.47716	1.5	0.09310	N	1	B;P;P;P;P	0.41929	0.442;0.474;0.765;0.664;0.75	B;B;B;B;P	0.47299	0.146;0.342;0.342;0.295;0.543	T	0.81304	-0.0993	10	0.45353	T	0.12	-0.0285	8.5278	0.33315	0.0:0.7009:0.1394:0.1597	.	78;62;78;66;75	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	S	62;66;78;78;75;64;61	ENSP00000405088:A62S;ENSP00000349581:A66S;ENSP00000364028:A78S;ENSP00000388439:A78S;ENSP00000264205:A75S;ENSP00000436633:A64S	ENSP00000264205:A75S	A	-	1	0	ECE1	21478319	0.002000	0.14202	0.101000	0.21167	0.346000	0.29079	1.630000	0.37081	0.776000	0.33473	-0.136000	0.14681	GCA		0.637	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397		45	69	1	0	1.35964e-18	1	1.51826e-18	45	69				
CYLD	1540	broad.mit.edu	37	16	50818322	50818323	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr16:50818322_50818323insA	ENST00000427738.3	+	11	2114_2115	c.1909_1910insA	c.(1909-1911)caafs	p.Q637fs	CYLD_ENST00000311559.9_Frame_Shift_Ins_p.Q637fs|CYLD_ENST00000564326.1_Frame_Shift_Ins_p.Q634fs|CYLD_ENST00000540145.1_Frame_Shift_Ins_p.Q637fs|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000568704.2_Frame_Shift_Ins_p.Q452fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000566206.1_Frame_Shift_Ins_p.Q634fs|CYLD_ENST00000398568.2_Frame_Shift_Ins_p.Q634fs|CYLD_ENST00000569418.1_Frame_Shift_Ins_p.Q634fs			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	637	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TAGTGAAACCCAAGAGCTACTG	0.347			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													ENST00000540145.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	"""Mis, N, F, S"""	familial cylindromatosis gene			E		cylindroma	cylindroma		0				central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62						c.(1909-1911)agafs		cylindromatosis (turban tumor syndrome)																																				SO:0001589	frameshift_variant	1540	Multiple Trichoepithelioma, Familial;Familial Cylindromatosis	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50818322_50818323insA	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1911dupA	16.37:g.50818324_50818324dupA	ENSP00000392025:p.Gln637fs					CYLD_ENST00000311559.9_Frame_Shift_Ins_p.R637fs|CYLD_ENST00000569418.1_Frame_Shift_Ins_p.R634fs|CYLD_ENST00000427738.3_Frame_Shift_Ins_p.R637fs|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000564326.1_Frame_Shift_Ins_p.R634fs|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Frame_Shift_Ins_p.R452fs|CYLD_ENST00000398568.2_Frame_Shift_Ins_p.R634fs|CYLD_ENST00000566206.1_Frame_Shift_Ins_p.R634fs	p.R637fs			Q9NQC7	CYLD_HUMAN			12	2324_2325	+		all_cancers(37;0.0156)	637					O94934|Q7L3N6|Q96EH0|Q9NZX9	Frame_Shift_Ins	INS	ENST00000427738.3	37	c.1909_1910insA	CCDS45482.1																																																																																				0.347	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2			62	48						62	48	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CN-A6UY-01A-12D-A34J-08	TCGA-CN-A6UY-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b15da5fe-21e9-4076-9350-3b1cc544e1e1	715962d9-fa9c-48bb-bf0b-e8afb62adfb2	g.chr19:35940788_35940790delCTG	ENST00000599180.2	+	2	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645																																					GBM(40;139 809 9833 23358 48736)	ENST00000599180.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22						c.(172-174)del		free fatty acid receptor 2																																				SO:0001651	inframe_deletion	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940788_35940790delCTG	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.172_174delCTG	19.37:g.35940797_35940799delCTG	ENSP00000473159:p.Leu62del					FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del	p.L62del			O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	252_254	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		62					B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	In_Frame_Del	DEL	ENST00000599180.2	37	c.172_174delCTG	CCDS12461.1																																																																																				0.645	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		7	64						7	64	---	---	---	---
