#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
CTSS	1520	broad.mit.edu	37	1	150727568	150727568	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr1:150727568C>T	ENST00000368985.3	-	4	568	c.308G>A	c.(307-309)aGa>aAa	p.R103K	CTSS_ENST00000448301.2_Intron|CTSS_ENST00000480760.1_5'UTR	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	103					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGATATTTCTCTGCCACTG	0.408																																						uc001evn.2																			0					0						c.(307-309)AGA>AAA		cathepsin S preproprotein							195.0	188.0	190.0					1																	150727568		2203	4300	6503	SO:0001583	missense	1520				immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity	g.chr1:150727568C>T	M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.308G>A	1.37:g.150727568C>T	ENSP00000357981:p.Arg103Lys					CTSS_uc010pcj.1_Intron|CTSS_uc001evo.1_Missense_Mutation_p.R103K	p.R103K	NM_004079	NP_004070	P25774	CATS_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)		4	441	-	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		103					B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	ENST00000368985.3	37	c.308G>A	CCDS968.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.442675	0.25987	.	.	ENSG00000163131	ENST00000368985	T	0.21361	2.01	5.47	4.42	0.53409	.	0.152464	0.56097	D	0.000023	T	0.06142	0.0159	L	0.43598	1.365	0.28166	N	0.928776	B	0.12630	0.006	B	0.18561	0.022	T	0.33752	-0.9856	10	0.15952	T	0.53	.	9.9177	0.41446	0.0:0.876:0.0:0.124	.	103	P25774	CATS_HUMAN	K	103	ENSP00000357981:R103K	ENSP00000357981:R103K	R	-	2	0	CTSS	148994192	0.008000	0.16893	0.075000	0.20258	0.837000	0.47467	1.471000	0.35365	1.078000	0.41014	0.591000	0.81541	AGA		0.408	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084737.1	NM_004079	
LAMTOR2	28956	broad.mit.edu	37	1	156025122	156025122	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr1:156025122C>T	ENST00000368305.4	+	2	275	c.137C>T	c.(136-138)gCt>gTt	p.A46V	LAMTOR2_ENST00000368304.5_Missense_Mutation_p.A46V|LAMTOR2_ENST00000368302.3_Missense_Mutation_p.A46V|UBQLN4_ENST00000472638.1_5'Flank|UBQLN4_ENST00000368309.3_5'Flank|LAMTOR2_ENST00000489664.1_3'UTR	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	46					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						CGGGTCACCGCTGCCATAGCC	0.572																																						uc001fnb.3																			0					0						c.(136-138)GCT>GTT		roadblock domain-containing protein 3 isoform 1							88.0	92.0	90.0					1																	156025122		2203	4300	6503	SO:0001583	missense	28956				cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex		g.chr1:156025122C>T	BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"""mitogen activated protein binding protein interacting protein"", ""MAPKSP1 adaptor protein"", ""endosomal adaptor protein"""	610389	"""roadblock domain containing 3"""	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.137C>T	1.37:g.156025122C>T	ENSP00000357288:p.Ala46Val					UBQLN4_uc001fna.2_5'Flank|UBQLN4_uc010pgx.1_5'Flank|ROBLD3_uc010pgy.1_Missense_Mutation_p.A46V	p.A46V	NM_014017	NP_054736	Q9Y2Q5	LTOR2_HUMAN			2	301	+			46					Q5VY97|Q5VY98|Q5VY99	Missense_Mutation	SNP	ENST00000368305.4	37	c.137C>T	CCDS1128.1	.	.	.	.	.	.	.	.	.	.	C	36	5.888891	0.97068	.	.	ENSG00000116586	ENST00000368305;ENST00000368304;ENST00000368302	T;T;T	0.41758	0.99;0.99;0.99	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.70227	0.968;0.748	T	0.71144	-0.4678	10	0.87932	D	0	-8.2576	18.4132	0.90559	0.0:1.0:0.0:0.0	.	46;46	Q5VY98;Q9Y2Q5	.;LTOR2_HUMAN	V	46	ENSP00000357288:A46V;ENSP00000357287:A46V;ENSP00000357285:A46V	ENSP00000357285:A46V	A	+	2	0	LAMTOR2	154291746	1.000000	0.71417	0.292000	0.24919	0.845000	0.48019	7.249000	0.78278	2.687000	0.91594	0.655000	0.94253	GCT		0.572	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046197.1	NM_014017	
PHRF1	57661	broad.mit.edu	37	11	607393	607393	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:607393C>T	ENST00000264555.5	+	14	2065	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	PHRF1_ENST00000416188.2_Missense_Mutation_p.A645V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A644V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A642V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	646					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.A651V(1)|p.A646V(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCTCTGCCGCGTCTAAGATC	0.587																																						uc001lqe.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1936-1938)GCG>GTG		PHD and ring finger domains 1							82.0	92.0	89.0					11																	607393		2036	4177	6213	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607393C>T	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.1937C>T	11.37:g.607393C>T	ENSP00000264555:p.Ala646Val					PHRF1_uc010qwc.1_Missense_Mutation_p.A645V|PHRF1_uc010qwd.1_Missense_Mutation_p.A644V|PHRF1_uc010qwe.1_Missense_Mutation_p.A642V|PHRF1_uc009ybz.1_Missense_Mutation_p.A436V|PHRF1_uc009yca.1_RNA	p.A646V	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	2068	+			646					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.1937C>T		.	.	.	.	.	.	.	.	.	.	C	14.76	2.630337	0.46944	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	3.93	3.02	0.34903	.	1.475390	0.04636	N	0.404428	D	0.87489	0.6190	L	0.29908	0.895	0.09310	N	1	B;P;P;B	0.36660	0.429;0.564;0.564;0.429	B;B;B;B	0.33295	0.077;0.161;0.161;0.077	T	0.77830	-0.2442	10	0.56958	D	0.05	-1.4707	9.6866	0.40103	0.0:0.9021:0.0:0.0979	.	642;644;645;646	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	V	646;644;645;642	ENSP00000264555:A646V;ENSP00000388589:A644V;ENSP00000410626:A645V;ENSP00000431870:A642V	ENSP00000264555:A646V	A	+	2	0	PHRF1	597393	0.102000	0.21896	0.001000	0.08648	0.002000	0.02628	2.568000	0.45965	0.850000	0.35239	0.462000	0.41574	GCG		0.587	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
FAT3	120114	broad.mit.edu	37	11	92531786	92531786	+	Silent	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:92531786C>T	ENST00000298047.6	+	9	5624	c.5607C>T	c.(5605-5607)gtC>gtT	p.V1869V	FAT3_ENST00000409404.2_Silent_p.V1869V|FAT3_ENST00000525166.1_Silent_p.V1719V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1869	Cadherin 16. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGTTGAAGTCAACATTGAGG	0.463										TCGA Ovarian(4;0.039)																												uc001pdj.3																			0				ovary(4)|pancreas(1)	5						c.(5605-5607)GTC>GTT		FAT tumor suppressor homolog 3							117.0	106.0	110.0					11																	92531786		1988	4171	6159	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531786C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5607C>T	11.37:g.92531786C>T		TCGA Ovarian(4;0.039)					p.V1869V	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	5624	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1869			Cadherin 16.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.5607C>T																																																																																					0.463	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781	
TRPC6	7225	broad.mit.edu	37	11	101323804	101323804	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:101323804C>A	ENST00000344327.3	-	13	3102	c.2678G>T	c.(2677-2679)aGt>aTt	p.S893I	TRPC6_ENST00000360497.4_Missense_Mutation_p.S838I|TRPC6_ENST00000348423.4_Missense_Mutation_p.S777I|TRPC6_ENST00000532133.1_Missense_Mutation_p.S815I	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	893					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATAGCGGAGACTTGAGATGTC	0.388																																					Colon(166;1315 1927 11094 12848 34731)	uc001pgk.3																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2677-2679)AGT>ATT		transient receptor potential cation channel,							143.0	140.0	141.0					11																	101323804		2203	4300	6503	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101323804C>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.2678G>T	11.37:g.101323804C>A	ENSP00000340913:p.Ser893Ile					TRPC6_uc009ywy.2_Missense_Mutation_p.S777I	p.S893I	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	13	3103	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	893			Cytoplasmic (Potential).		Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.2678G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946171	0.92593	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	5.65	5.65	0.86999	.	0.147225	0.85682	D	0.000000	D	0.94275	0.8161	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.94494	0.7704	10	0.87932	D	0	-21.1595	19.7968	0.96490	0.0:1.0:0.0:0.0	.	777;893	Q9Y210-2;Q9Y210	.;TRPC6_HUMAN	I	893;815;777;838	ENSP00000340913:S893I;ENSP00000435574:S815I;ENSP00000343672:S777I;ENSP00000353687:S838I	ENSP00000340913:S893I	S	-	2	0	TRPC6	100829014	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.625000	0.83145	2.679000	0.91253	0.650000	0.86243	AGT		0.388	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
ANO2	57101	broad.mit.edu	37	12	5908717	5908717	+	Silent	SNP	C	C	T	rs376218931		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr12:5908717C>T	ENST00000356134.5	-	11	1073	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	ANO2_ENST00000546188.1_Silent_p.A334A|ANO2_ENST00000327087.8_Silent_p.A333A	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	338					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTCCATAGCGCGCCCATTCTT	0.418																																						uc001qnm.2																			0				ovary(4)|large_intestine(2)|central_nervous_system(1)	7						c.(997-999)GCG>GCA		anoctamin 2		C		0,3710		0,0,1855	78.0	71.0	73.0		999	-1.1	1.0	12		73	1,8219		0,1,4109	no	coding-synonymous	ANO2	NM_020373.2		0,1,5964	TT,TC,CC		0.0122,0.0,0.0084		333/999	5908717	1,11929	1855	4110	5965	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5908717C>T	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1002G>A	12.37:g.5908717C>T							p.A333A	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN			10	1071	-			338			Cytoplasmic (Potential).		C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.999G>A																																																																																					0.418	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373	
LECT1	11061	broad.mit.edu	37	13	53307443	53307443	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr13:53307443A>G	ENST00000377962.3	-	3	343	c.265T>C	c.(265-267)Tca>Cca	p.S89P	LECT1_ENST00000448904.2_Missense_Mutation_p.S89P			O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	89					cartilage development (GO:0051216)|endothelial cell morphogenesis (GO:0001886)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|proteoglycan metabolic process (GO:0006029)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ATTTCCATTGACCCATCTTGT	0.363																																						uc001vhf.2																			0				ovary(2)	2						c.(265-267)TCA>CCA		leukocyte cell derived chemotaxin 1 isoform 1							176.0	164.0	168.0					13																	53307443		2203	4300	6503	SO:0001583	missense	11061				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane		g.chr13:53307443A>G	AB006000	CCDS9437.1, CCDS45051.1	13q14.3	2012-10-10			ENSG00000136110	ENSG00000136110		"""BRICHOS domain containing"""	17005	protein-coding gene	gene with protein product	"""BRICHOS domain containing 3"""	605147	"""multiple myeloma tumor suppressor 1"""	MYETS1		9731231, 10103018	Standard	XM_006719760		Approved	CHM-I, CHM1, chondromodulin, BRICD3	uc001vhf.2	O75829	OTTHUMG00000016980	ENST00000377962.3:c.265T>C	13.37:g.53307443A>G	ENSP00000367198:p.Ser89Pro					LECT1_uc001vhg.2_Missense_Mutation_p.S89P|LECT1_uc001vhh.2_Missense_Mutation_p.S116P	p.S89P	NM_007015	NP_008946	O75829	LECT1_HUMAN		GBM - Glioblastoma multiforme(99;3.38e-08)	3	376	-		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	89					Q5TAM4|Q8TAY6|Q9UM18	Missense_Mutation	SNP	ENST00000377962.3	37	c.265T>C	CCDS9437.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.934224	0.73442	.	.	ENSG00000136110	ENST00000448904;ENST00000377962;ENST00000431550;ENST00000545757	T;T;T	0.33865	1.4;1.39;1.39	6.07	6.07	0.98685	.	0.172780	0.52532	D	0.000080	T	0.44477	0.1295	L	0.29908	0.895	0.53688	D	0.999971	D;D;D	0.60575	0.988;0.979;0.964	P;P;P	0.58454	0.676;0.839;0.694	T	0.21861	-1.0233	10	0.35671	T	0.21	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	125;89;89	Q5TAN5;O75829-2;O75829	.;.;LECT1_HUMAN	P	89;89;11;69	ENSP00000388576:S89P;ENSP00000367198:S89P;ENSP00000396035:S11P	ENSP00000367198:S89P	S	-	1	0	LECT1	52205444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.655000	0.61476	2.326000	0.78906	0.533000	0.62120	TCA		0.363	LECT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045110.3		
TFDP1	7027	broad.mit.edu	37	13	114286001	114286001	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr13:114286001C>A	ENST00000375370.5	+	5	462	c.250C>A	c.(250-252)Ccc>Acc	p.P84T	TFDP1_ENST00000544902.1_Intron|TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000465174.1_3'UTR	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	84					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CCCACACACCCCCAGCACTCA	0.557										TSP Lung(29;0.18)																												uc001vtw.2																			0				lung(4)|ovary(2)|skin(1)	7						c.(250-252)CCC>ACC		transcription factor Dp-1							159.0	130.0	140.0					13																	114286001		2203	4300	6503	SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114286001C>A	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.250C>A	13.37:g.114286001C>A	ENSP00000364519:p.Pro84Thr	TSP Lung(29;0.18)				TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Missense_Mutation_p.P84T|TFDP1_uc001vtx.2_5'Flank|TFDP1_uc010agx.2_Missense_Mutation_p.P84T	p.P84T	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		5	462	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	84					B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.250C>A	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.509312	0.85282	.	.	ENSG00000198176	ENST00000375370;ENST00000408980;ENST00000453989	T;T;T	0.38887	1.73;1.22;1.11	4.34	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.65186	0.2667	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.69705	-0.5073	10	0.54805	T	0.06	.	17.2402	0.87011	0.0:1.0:0.0:0.0	.	84;84;84	Q5JSB5;Q5JSB6;Q14186	.;.;TFDP1_HUMAN	T	84	ENSP00000364519:P84T;ENSP00000386145:P84T;ENSP00000401389:P84T	ENSP00000364519:P84T	P	+	1	0	TFDP1	113334002	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	6.974000	0.76122	2.134000	0.65973	0.313000	0.20887	CCC		0.557	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111	
WDR72	256764	broad.mit.edu	37	15	53908374	53908374	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr15:53908374C>T	ENST00000396328.1	-	15	2268	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	WDR72_ENST00000559418.1_Missense_Mutation_p.V687I|WDR72_ENST00000557913.1_Missense_Mutation_p.V674I|WDR72_ENST00000360509.5_Missense_Mutation_p.V677I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	677										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGAAAGCCAACGTTACTCCAT	0.378																																						uc002acj.2																			0				lung(1)|skin(1)	2						c.(2029-2031)GTT>ATT		WD repeat domain 72							74.0	70.0	72.0					15																	53908374		2194	4291	6485	SO:0001583	missense	256764							g.chr15:53908374C>T	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2029G>A	15.37:g.53908374C>T	ENSP00000379619:p.Val677Ile					WDR72_uc010bfi.1_Missense_Mutation_p.V677I	p.V677I	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2071	-			677					Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	ENST00000396328.1	37	c.2029G>A	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	2.682	-0.275057	0.05679	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.34275	1.37;1.37	5.23	-4.31	0.03698	.	1.159420	0.06239	N	0.689984	T	0.12944	0.0314	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28902	-1.0029	10	0.17832	T	0.49	.	7.8085	0.29217	0.1105:0.4537:0.0:0.4359	.	677	Q3MJ13	WDR72_HUMAN	I	677	ENSP00000379619:V677I;ENSP00000353699:V677I	ENSP00000353699:V677I	V	-	1	0	WDR72	51695666	0.000000	0.05858	0.000000	0.03702	0.503000	0.33858	-0.838000	0.04372	-0.660000	0.05352	-0.657000	0.03884	GTT		0.378	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
TLN2	83660	broad.mit.edu	37	15	63063321	63063321	+	Silent	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr15:63063321C>T	ENST00000561311.1	+	41	5585	c.5355C>T	c.(5353-5355)ggC>ggT	p.G1785G	TLN2_ENST00000472902.1_Silent_p.G178G|TLN2_ENST00000306829.6_Silent_p.G1785G			Q9Y4G6	TLN2_HUMAN	talin 2	1785					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGAAGGTGGCGGAAACCCCA	0.507																																						uc002alb.3																			0				ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(5353-5355)GGC>GGT		talin 2							99.0	93.0	95.0					15																	63063321		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63063321C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5355C>T	15.37:g.63063321C>T						TLN2_uc002alc.3_Silent_p.G178G|TLN2_uc002ald.2_Silent_p.G178G	p.G1785G	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			39	5355	+			1785					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.5355C>T	CCDS32261.1																																																																																				0.507	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
AXIN1	8312	broad.mit.edu	37	16	339566	339566	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:339566G>A	ENST00000262320.3	-	10	2707	c.2336C>T	c.(2335-2337)cCg>cTg	p.P779L	AXIN1_ENST00000354866.3_Missense_Mutation_p.P743L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	779	Interaction with PPP2CA.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.P779L(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTGTCACACGGCTGGGCACT	0.637																																						uc002cgp.1																			1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|liver(1)	2						c.(2335-2337)CCG>CTG		axin 1 isoform a							59.0	55.0	56.0					16																	339566		2199	4299	6498	SO:0001583	missense	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:339566G>A	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2336C>T	16.37:g.339566G>A	ENSP00000262320:p.Pro779Leu					AXIN1_uc002cgq.1_Missense_Mutation_p.P743L	p.P779L	NM_003502	NP_003493	O15169	AXIN1_HUMAN			10	2513	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	779			Interaction with PPP2CA.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.2336C>T	CCDS10405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.49|14.49	2.551173|2.551173	0.45383|0.45383	.|.	.|.	ENSG00000103126|ENSG00000103126	ENST00000262320;ENST00000354866|ENST00000457798	T;T|.	0.62232|.	0.18;0.04|.	4.44|4.44	3.48|3.48	0.39840|0.39840	.|.	0.177429|.	0.51477|.	N|.	0.000094|.	T|T	0.57301|0.57301	0.2044|0.2044	L|L	0.52364|0.52364	1.645|1.645	0.58432|0.58432	D|D	0.999998|0.999998	B;B|.	0.12630|.	0.003;0.006|.	B;B|.	0.12837|.	0.008;0.003|.	T|T	0.52298|0.52298	-0.8594|-0.8594	10|5	0.25751|.	T|.	0.34|.	-20.0698|-20.0698	8.8337|8.8337	0.35100|0.35100	0.1741:0.0:0.8259:0.0|0.1741:0.0:0.8259:0.0	.|.	743;779|.	O15169-2;O15169|.	.;AXIN1_HUMAN|.	L|C	779;743|31	ENSP00000262320:P779L;ENSP00000346935:P743L|.	ENSP00000262320:P779L|.	P|R	-|-	2|1	0|0	AXIN1|AXIN1	279567|279567	1.000000|1.000000	0.71417|0.71417	0.007000|0.007000	0.13788|0.13788	0.058000|0.058000	0.15608|0.15608	4.696000|4.696000	0.61774|0.61774	0.873000|0.873000	0.35799|0.35799	0.313000|0.313000	0.20887|0.20887	CCG|CGT		0.637	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
TEKT5	146279	broad.mit.edu	37	16	10788283	10788283	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:10788283A>G	ENST00000283025.2	-	1	519	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	150						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GACTTCCAGAAGCCAATGTCC	0.597																																						uc002czz.1																			0				ovary(2)	2						c.(448-450)TTC>CTC		tektin 5							103.0	109.0	107.0					16																	10788283		2197	4300	6497	SO:0001583	missense	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788283A>G		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.448T>C	16.37:g.10788283A>G	ENSP00000283025:p.Phe150Leu						p.F150L	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			1	520	-			150			Potential.		A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	c.448T>C	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	18.57	3.652480	0.67472	.	.	ENSG00000153060	ENST00000283025	T	0.02656	4.21	5.4	5.4	0.78164	.	0.088794	0.49916	D	0.000133	T	0.12944	0.0314	M	0.74881	2.28	0.80722	D	1	D	0.61080	0.989	P	0.61722	0.893	T	0.00145	-1.1993	10	0.72032	D	0.01	-30.4584	14.5344	0.67950	1.0:0.0:0.0:0.0	.	150	Q96M29	TEKT5_HUMAN	L	150	ENSP00000283025:F150L	ENSP00000283025:F150L	F	-	1	0	TEKT5	10695784	1.000000	0.71417	0.984000	0.44739	0.141000	0.21300	8.678000	0.91211	2.161000	0.67846	0.528000	0.53228	TTC		0.597	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
PKD1L2	114780	broad.mit.edu	37	16	81219137	81219137	+	RNA	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:81219137G>A	ENST00000525539.1	-	0	1956				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACACGTAGAGGCACTGCTCT	0.622																																						uc002fgh.1																			0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1957-1959)CTC>TTC		polycystin 1-like 2 isoform a							35.0	43.0	40.0					16																	81219137		2073	4223	6296			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81219137G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81219137G>A						PKD1L2_uc002fgj.2_Missense_Mutation_p.L653F	p.L653F	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			11	1957	-			653			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1957C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.48|13.48	2.251156|2.251156	0.39797|0.39797	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000337114|ENST00000526632	T|.	0.70986|.	-0.53|.	4.38|4.38	3.35|3.35	0.38373|0.38373	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);|.	0.366405|.	0.24580|.	N|.	0.037316|.	T|T	0.41811|0.41811	0.1175|0.1175	.|.	.|.	.|.	0.24869|0.24869	N|N	0.99229|0.99229	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.77557|.	0.99;0.959|.	T|T	0.26189|0.26189	-1.0110|-1.0110	9|4	0.87932|.	D|.	0|.	-18.5931|-18.5931	12.8483|12.8483	0.57842|0.57842	0.0:0.1631:0.8368:0.0|0.0:0.1631:0.8368:0.0	.|.	653;653|.	Q7Z442-3;Q7Z442|.	.;PK1L2_HUMAN|.	F|L	653|180	ENSP00000337397:L653F|.	ENSP00000337397:L653F|.	L|P	-|-	1|2	0|0	PKD1L2|PKD1L2	79776638|79776638	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.034000|0.034000	0.12701|0.12701	1.128000|1.128000	0.31369|0.31369	2.159000|2.159000	0.67721|0.67721	0.551000|0.551000	0.68910|0.68910	CTC|CCT		0.622	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2		
SLC13A2	9058	broad.mit.edu	37	17	26822743	26822743	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr17:26822743C>T	ENST00000314669.5	+	10	1799	c.1379C>T	c.(1378-1380)gCc>gTc	p.A460V	SLC13A2_ENST00000537681.1_Missense_Mutation_p.A389V|SLC13A2_ENST00000444914.3_Missense_Mutation_p.A509V|SLC13A2_ENST00000545060.1_Missense_Mutation_p.A417V	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	460					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAGCCATTGCCATCATCCTC	0.607																																						uc002hbh.2																			0					0						c.(1378-1380)GCC>GTC		solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)						157.0	124.0	135.0					17																	26822743		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26822743C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1379C>T	17.37:g.26822743C>T	ENSP00000316202:p.Ala460Val					SLC13A2_uc010wam.1_Missense_Mutation_p.A416V|SLC13A2_uc010wan.1_Missense_Mutation_p.A509V|SLC13A2_uc010wao.1_Missense_Mutation_p.A417V|SLC13A2_uc002hbi.2_Missense_Mutation_p.A389V	p.A460V	NM_003984	NP_003975	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	10	1446	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		460			Helical; (Potential).		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.1379C>T	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	C	1.374	-0.585151	0.03827	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000537681	T;T;T;T	0.02837	4.14;4.14;4.14;4.14	5.19	-0.516	0.11950	.	0.204791	0.52532	N	0.000080	T	0.01558	0.0050	N	0.11698	0.16	0.09310	N	0.999992	B;B;B;B	0.22480	0.07;0.001;0.01;0.002	B;B;B;B	0.31751	0.135;0.023;0.041;0.03	T	0.48258	-0.9051	10	0.02654	T	1	-12.2661	7.2739	0.26273	0.0:0.576:0.1057:0.3183	.	417;509;389;460	F5GWV6;E7ETH5;G3V1L2;Q13183	.;.;.;S13A2_HUMAN	V	460;509;417;389	ENSP00000316202:A460V;ENSP00000392411:A509V;ENSP00000441935:A417V;ENSP00000440802:A389V	ENSP00000316202:A460V	A	+	2	0	SLC13A2	23846870	0.101000	0.21875	0.000000	0.03702	0.000000	0.00434	0.698000	0.25571	-0.311000	0.08754	-2.047000	0.00414	GCC		0.607	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
GPS1	2873	broad.mit.edu	37	17	80011213	80011213	+	Missense_Mutation	SNP	G	G	A	rs146475501		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr17:80011213G>A	ENST00000306823.6	+	2	120	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	RFNG_ENST00000584838.1_5'Flank|GPS1_ENST00000578552.1_Missense_Mutation_p.V33I|GPS1_ENST00000355130.2_Missense_Mutation_p.V73I|GPS1_ENST00000392358.2_Missense_Mutation_p.V73I|RFNG_ENST00000310496.4_5'Flank|RFNG_ENST00000429557.3_5'Flank|GPS1_ENST00000320548.4_Missense_Mutation_p.V17I			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	33					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGCACCTGACGTCAACTACGT	0.667																																						uc002kdl.1																			0				central_nervous_system(1)	1						c.(97-99)GTC>ATC		G protein pathway suppressor 1 isoform 2							87.0	78.0	81.0					17																	80011213		2202	4300	6502	SO:0001583	missense	2873				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding	g.chr17:80011213G>A		CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.97G>A	17.37:g.80011213G>A	ENSP00000302873:p.Val33Ile					RFNG_uc002kdh.2_5'Flank|RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Missense_Mutation_p.V73I|GPS1_uc010dij.1_Missense_Mutation_p.V73I|GPS1_uc002kdm.1_Missense_Mutation_p.V17I|GPS1_uc002kdn.1_Missense_Mutation_p.V33I|GPS1_uc002kdo.1_Missense_Mutation_p.V33I|GPS1_uc010wvh.1_Missense_Mutation_p.V25I	p.V33I	NM_004127	NP_004118	Q13098	CSN1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)		2	142	+	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		33					Q8NA10|Q9BWL1	Missense_Mutation	SNP	ENST00000306823.6	37	c.97G>A	CCDS32774.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.47|11.47	1.648119|1.648119	0.29336|0.29336	.|.	.|.	ENSG00000169727|ENSG00000169727	ENST00000320548|ENST00000392358;ENST00000306823;ENST00000355130	.|.	.|.	.|.	3.82|3.82	2.84|2.84	0.33178|0.33178	.|.	.|.	.|.	.|.	.|.	.|T	.|0.24236	.|0.0587	L|L	0.40543|0.40543	1.245|1.245	0.25494|0.25494	N|N	0.987613|0.987613	.|B;B;B;B;B	.|0.34349	.|0.0;0.322;0.023;0.0;0.45	.|B;B;B;B;B	.|0.27500	.|0.0;0.037;0.031;0.0;0.08	.|T	.|0.08269	.|-1.0730	.|8	.|0.37606	.|T	.|0.19	.|.	6.4541|6.4541	0.21920|0.21920	0.2289:0.0:0.7711:0.0|0.2289:0.0:0.7711:0.0	.|.	.|25;73;33;33;73	.|B4DND6;A8K070;Q13098-5;Q13098;Q13098-7	.|.;.;.;CSN1_HUMAN;.	.|I	-1|73;33;73	.|.	.|ENSP00000302873:V33I	.|V	+|+	.|1	.|0	GPS1|GPS1	77604502|77604502	0.997000|0.997000	0.39634|0.39634	0.959000|0.959000	0.39883|0.39883	0.612000|0.612000	0.37316|0.37316	1.990000|1.990000	0.40717|0.40717	2.085000|2.085000	0.62840|0.62840	0.563000|0.563000	0.77884|0.77884	.|GTC		0.667	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442176.1	NM_212492	
TSPAN16	26526	broad.mit.edu	37	19	11408879	11408879	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:11408879C>T	ENST00000316737.1	+	2	281	c.131C>T	c.(130-132)aCg>aTg	p.T44M	TSPAN16_ENST00000590327.1_Missense_Mutation_p.T44M|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.T44M	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	44						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GCCTCTCTGACGAATGTCCTC	0.532																																						uc002mqv.1																			0				skin(1)	1						c.(130-132)ACG>ATG		transmembrane 4 superfamily member 16							171.0	142.0	152.0					19																	11408879		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11408879C>T	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.131C>T	19.37:g.11408879C>T	ENSP00000319486:p.Thr44Met					TSPAN16_uc002mqu.1_RNA	p.T44M	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN			2	281	+			44			Helical; (Potential).		K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.131C>T	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678174	0.29783	.	.	ENSG00000130167	ENST00000316737;ENST00000337994	T;T	0.79554	-1.28;-1.28	3.57	1.43	0.22495	.	2.494330	0.02208	N	0.062877	D	0.85358	0.5678	L	0.43152	1.355	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66870	-0.5814	10	0.48119	T	0.1	-11.3303	5.5632	0.17157	0.0:0.7464:0.0:0.2536	.	44	Q9UKR8	TSN16_HUMAN	M	44	ENSP00000319486:T44M;ENSP00000338759:T44M	ENSP00000319486:T44M	T	+	2	0	TSPAN16	11269879	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	-0.237000	0.08990	0.490000	0.27771	0.462000	0.41574	ACG		0.532	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466	
CALR	811	broad.mit.edu	37	19	13050871	13050871	+	Silent	SNP	C	C	T	rs371325705		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:13050871C>T	ENST00000316448.5	+	4	475	c.402C>T	c.(400-402)ccC>ccT	p.P134P		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	134	N-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	ACCTAGGTCCCGACATCTGTG	0.502																																						uc002mvu.2																			0				ovary(1)	1						c.(400-402)CCC>CCT		calreticulin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	C		1,4405		0,1,2202	96.0	79.0	85.0		402	-11.2	0.2	19		85	0,8600		0,0,4300	no	coding-synonymous	CALR	NM_004343.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		134/418	13050871	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13050871C>T	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.402C>T	19.37:g.13050871C>T							p.P134P	NM_004343	NP_004334	P27797	CALR_HUMAN			4	482	+			134			N-domain.		Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	c.402C>T	CCDS12288.1																																																																																				0.502	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343	
PGLYRP2	114770	broad.mit.edu	37	19	15586693	15586693	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:15586693G>A	ENST00000340880.4	-	2	1268	c.788C>T	c.(787-789)cCc>cTc	p.P263L	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.P263L	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	263					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AGATGCCTTGGGGTCCAAAAG	0.617																																						uc002nbf.3																			0				ovary(3)	3						c.(787-789)CCC>CTC		peptidoglycan recognition protein 2 precursor							34.0	35.0	35.0					19																	15586693		2203	4299	6502	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15586693G>A	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.788C>T	19.37:g.15586693G>A	ENSP00000345968:p.Pro263Leu					PGLYRP2_uc002nbg.3_Missense_Mutation_p.P263L	p.P263L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN			2	921	-			263					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.788C>T	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	G	9.149	1.015843	0.19355	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.04706	3.58;3.57	5.31	3.02	0.34903	.	0.923709	0.09147	N	0.842167	T	0.12518	0.0304	L	0.49126	1.545	0.09310	N	1	D;B	0.58620	0.983;0.027	P;B	0.54590	0.756;0.02	T	0.25187	-1.0139	10	0.87932	D	0	-23.2054	11.9735	0.53078	0.0:0.0:0.6883:0.3117	.	263;263	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	L	263	ENSP00000345968:P263L;ENSP00000292609:P263L	ENSP00000292609:P263L	P	-	2	0	PGLYRP2	15447693	0.000000	0.05858	0.630000	0.29268	0.062000	0.15995	0.230000	0.17852	1.225000	0.43566	0.561000	0.74099	CCC		0.617	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890	
SPP2	6694	broad.mit.edu	37	2	234967547	234967547	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr2:234967547G>A	ENST00000168148.3	+	3	366	c.278G>A	c.(277-279)aGg>aAg	p.R93K	SPP2_ENST00000373368.1_Missense_Mutation_p.R93K	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	93					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ACTACATGCAGGAAGGATTCT	0.453																																						uc002vvk.1																			0					0						c.(277-279)AGG>AAG		secreted phosphoprotein 2, 24kDa precursor							115.0	103.0	107.0					2																	234967547		2203	4300	6503	SO:0001583	missense	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234967547G>A		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.278G>A	2.37:g.234967547G>A	ENSP00000168148:p.Arg93Lys					SPP2_uc010fyl.1_Missense_Mutation_p.R13K	p.R93K	NM_006944	NP_008875	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	3	363	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	93					A4QMV3|Q3B892|Q546M5	Missense_Mutation	SNP	ENST00000168148.3	37	c.278G>A	CCDS2511.1	.	.	.	.	.	.	.	.	.	.	G	7.074	0.568895	0.13560	.	.	ENSG00000072080	ENST00000373368;ENST00000168148;ENST00000425558	T;T	0.40476	1.03;1.03	5.24	4.29	0.51040	.	0.310644	0.31648	N	0.007296	T	0.29882	0.0747	L	0.45228	1.405	0.23454	N	0.997649	B	0.20261	0.043	B	0.23018	0.043	T	0.30765	-0.9967	10	0.02654	T	1	-9.7559	10.2922	0.43603	0.0:0.0:0.7346:0.2654	.	93	Q13103	SPP24_HUMAN	K	93;93;13	ENSP00000362466:R93K;ENSP00000168148:R93K	ENSP00000168148:R93K	R	+	2	0	SPP2	234632286	0.983000	0.35010	0.492000	0.27490	0.882000	0.50991	1.429000	0.34903	1.009000	0.39289	0.591000	0.81541	AGG		0.453	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944	
ZNF337	26152	broad.mit.edu	37	20	25655873	25655873	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr20:25655873delG	ENST00000376436.1	-	4	2590	c.2051delC	c.(2050-2052)cctfs	p.P684fs	ZNF337_ENST00000538750.1_Frame_Shift_Del_p.P652fs|RP4-694B14.5_ENST00000428254.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.P684fs|RP4-694B14.5_ENST00000421829.1_RNA|ZNF337_ENST00000481610.1_5'Flank|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	684					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCAAACAAAAGGCTTCTCCTT	0.502																																						uc002wva.2																			0					0						c.(2050-2052)CCTfs		zinc finger protein 337							149.0	137.0	141.0					20																	25655873		2203	4300	6503	SO:0001589	frameshift_variant	26152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:25655873delG		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.2051delC	20.37:g.25655873delG	ENSP00000365619:p.Pro684fs					uc002wuz.2_RNA|ZNF337_uc010ztg.1_Frame_Shift_Del_p.P652fs|ZNF337_uc002wvb.2_Frame_Shift_Del_p.P684fs|ZNF337_uc002wvc.2_Frame_Shift_Del_p.P684fs	p.P684fs	NM_015655	NP_056470	Q9Y3M9	ZN337_HUMAN			4	2573	-			684					B4DSM2|Q9Y3Y5	Frame_Shift_Del	DEL	ENST00000376436.1	37	c.2051delC	CCDS13174.1																																																																																				0.502	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1		
PABPC1L	80336	broad.mit.edu	37	20	43559261	43559261	+	Nonsense_Mutation	SNP	T	T	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr20:43559261T>A	ENST00000217073.2	+	8	1133	c.1133T>A	c.(1132-1134)tTg>tAg	p.L378*	PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217075.2_5'Flank|PABPC1L_ENST00000372824.1_5'Flank|PABPC1L_ENST00000372819.1_5'Flank|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR|PABPC1L_ENST00000255136.3_Nonsense_Mutation_p.L378*			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	378					mRNA polyadenylation (GO:0006378)|oocyte maturation (GO:0001556)	extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						AAGGCCATCTTGACCAACCAG	0.627																																						uc010ggv.1																			0				ovary(1)	1						c.(1132-1134)TTG>TAG		poly(A)-binding protein, cytoplasmic 1-like							198.0	188.0	191.0					20																	43559261		1568	3582	5150	SO:0001587	stop_gained	80336						nucleotide binding|RNA binding	g.chr20:43559261T>A	AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104		"""RNA binding motif (RRM) containing"""	15797	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 119"""	C20orf119		11549316	Standard	NM_001124756		Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.1133T>A	20.37:g.43559261T>A	ENSP00000217073:p.Leu378*					PABPC1L_uc010zwq.1_RNA|PABPC1L_uc002xmv.2_RNA|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.2_5'Flank	p.L378*	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN			8	1215	+			378					Q4VY17	Nonsense_Mutation	SNP	ENST00000217073.2	37	c.1133T>A	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	T	38	6.939430	0.97948	.	.	ENSG00000101104	ENST00000255136;ENST00000217073	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8419	0.78852	0.0:0.0:0.0:1.0	.	.	.	.	X	378	.	ENSP00000217073:L378X	L	+	2	0	PABPC1L	42992675	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	8.013000	0.88655	2.137000	0.66172	0.533000	0.62120	TTG		0.627	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127816.2		
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR|ZNF717_ENST00000400845.3_Silent_p.D42D			Q9BY31	ZN717_HUMAN	zinc finger protein 717						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502																																						uc011bgi.1																			0					0						c.(145-147)GAC>GAT		zinc finger protein 717							18.0	14.0	15.0					3																	75790798		450	1250	1700			100131827				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:75790798G>A	AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.-4C>T	3.37:g.75790798G>A						ZNF717_uc003dpw.3_RNA	p.D49D	NM_001128223	NP_001121695	C9JSV9	C9JSV9_HUMAN			3	470	-			49						Silent	SNP	ENST00000478296.1	37	c.147C>T																																																																																					0.502	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
NFXL1	152518	broad.mit.edu	37	4	47886362	47886362	+	Splice_Site	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr4:47886362C>T	ENST00000507489.1	-	15	2093		c.e15+1		NFXL1_ENST00000329043.3_Splice_Site|NFXL1_ENST00000381538.3_Splice_Site	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1							integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTAATACTTACATAGGAATAG	0.368																																						uc010igh.2																			0				ovary(1)|lung(1)|skin(1)	3						c.e15+1		nuclear transcription factor, X-box binding-like							58.0	63.0	62.0					4																	47886362		2203	4300	6503	SO:0001630	splice_region_variant	152518					integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:47886362C>T	AY134856	CCDS3478.2	4p12	2008-02-05			ENSG00000170448	ENSG00000170448			18726	protein-coding gene	gene with protein product	"""ovarian zinc finger protein"""						Standard	NM_152995		Approved	HOZFP	uc003gxp.3	Q6ZNB6	OTTHUMG00000128621	ENST00000507489.1:c.1916+1G>A	4.37:g.47886362C>T						NFXL1_uc003gxp.2_Splice_Site_p.M639_splice|NFXL1_uc003gxq.3_Splice_Site|NFXL1_uc010igi.2_Splice_Site_p.M639_splice	p.M639_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN			15	2093	-								B1Q2K1|Q86VG1|Q8WVH1	Splice_Site	SNP	ENST00000507489.1	37	c.1916_splice	CCDS3478.2	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551698	0.65311	.	.	ENSG00000170448	ENST00000381538;ENST00000507489;ENST00000329043	.	.	.	5.22	5.22	0.72569	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1474	0.93473	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NFXL1	47581119	1.000000	0.71417	0.996000	0.52242	0.616000	0.37450	6.557000	0.73937	2.596000	0.87737	0.460000	0.39030	.		0.368	NFXL1-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361636.1	NM_152995	Intron
FRAS1	80144	broad.mit.edu	37	4	79402982	79402982	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr4:79402982G>A	ENST00000264895.6	+	57	8908	c.8468G>A	c.(8467-8469)cGc>cAc	p.R2823H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2819	Calx-beta 3.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCAGTTATCCGCCATGGTACT	0.468																																						uc003hlb.2																			0				large_intestine(5)	5						c.(8467-8469)CGC>CAC		Fraser syndrome 1							207.0	209.0	209.0					4																	79402982		1916	4122	6038	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79402982G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8468G>A	4.37:g.79402982G>A	ENSP00000264895:p.Arg2823His						p.R2823H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			57	8908	+			2818			Calx-beta 3.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.8468G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609785	0.87258	.	.	ENSG00000138759	ENST00000264895	T	0.43294	0.95	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.82701	-0.0327	10	0.87932	D	0	.	19.626	0.95678	0.0:0.0:1.0:0.0	.	2823	E9PHH6	.	H	2823	ENSP00000264895:R2823H	ENSP00000264895:R2823H	R	+	2	0	FRAS1	79622006	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	9.723000	0.98772	2.616000	0.88540	0.650000	0.86243	CGC		0.468	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
CDH9	1007	broad.mit.edu	37	5	26902807	26902807	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:26902807G>T	ENST00000231021.4	-	7	1203	c.1031C>A	c.(1030-1032)aCt>aAt	p.T344N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	344	Cadherin 3. {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)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CACTCTTAAAGTATAGAGCAT	0.328																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1030-1032)ACT>AAT		cadherin 9, type 2 preproprotein							65.0	65.0	65.0					5																	26902807		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26902807G>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1031C>A	5.37:g.26902807G>T	ENSP00000231021:p.Thr344Asn						p.T344N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			7	1200	-			344			Cadherin 3.|Extracellular (Potential).		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1031C>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.004301	0.54254	.	.	ENSG00000113100	ENST00000231021	T	0.50813	0.73	5.62	5.62	0.85841	Cadherin (5);Cadherin-like (1);	0.317230	0.34932	N	0.003577	T	0.61248	0.2332	L	0.58510	1.815	0.45150	D	0.998167	P	0.35628	0.513	P	0.50590	0.645	T	0.54675	-0.8258	9	.	.	.	.	18.2244	0.89913	0.0:0.0:1.0:0.0	.	344	Q9ULB4	CADH9_HUMAN	N	344	ENSP00000231021:T344N	.	T	-	2	0	CDH9	26938564	0.983000	0.35010	1.000000	0.80357	0.938000	0.57974	3.430000	0.52807	2.648000	0.89879	0.650000	0.86243	ACT		0.328	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
PTCD2	79810	broad.mit.edu	37	5	71618025	71618025	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:71618025G>A	ENST00000380639.5	+	2	170	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	PTCD2_ENST00000543322.1_Missense_Mutation_p.V52M|MRPS27_ENST00000522095.1_5'Flank|MRPS27_ENST00000261413.5_5'Flank|PTCD2_ENST00000503868.1_Missense_Mutation_p.V52M|PTCD2_ENST00000536805.1_5'UTR|MRPS27_ENST00000513900.1_5'Flank|MRPS27_ENST00000515404.1_5'Flank|MRPS27_ENST00000457646.4_5'Flank	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	52					kidney development (GO:0001822)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|muscle fiber development (GO:0048747)|regulation of mRNA processing (GO:0050684)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TACAGATAATGTGGTGAAATT	0.284																																						uc003kcb.2																			0					0						c.(154-156)GTG>ATG		pentatricopeptide repeat domain 2							117.0	125.0	122.0					5																	71618025		1802	4068	5870	SO:0001583	missense	79810							g.chr5:71618025G>A	BC018720	CCDS4014.2, CCDS68891.1, CCDS68892.1, CCDS75258.1	5q13.2	2008-02-05			ENSG00000049883	ENSG00000049883			25734	protein-coding gene	gene with protein product		615484				12477932	Standard	XM_005248601		Approved	FLJ12598	uc003kcb.3	Q8WV60	OTTHUMG00000100953	ENST00000380639.5:c.154G>A	5.37:g.71618025G>A	ENSP00000370013:p.Val52Met					MRPS27_uc003kca.3_5'Flank|MRPS27_uc003kbz.3_5'Flank|MRPS27_uc011cse.1_5'Flank|MRPS27_uc010iza.2_5'Flank|PTCD2_uc011csf.1_Translation_Start_Site|PTCD2_uc003kcc.2_Translation_Start_Site|PTCD2_uc011csg.1_Translation_Start_Site|PTCD2_uc011csh.1_Missense_Mutation_p.V52M|PTCD2_uc003kcd.2_RNA	p.V52M	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)	2	164	+		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)	52					B7Z5D0|B7Z8L7|E9PFV7|Q6IA65|Q9H9R0	Missense_Mutation	SNP	ENST00000380639.5	37	c.154G>A	CCDS4014.2	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108904	0.37242	.	.	ENSG00000049883	ENST00000380639;ENST00000543322;ENST00000503868	T;T	0.55588	0.51;0.51	5.85	-4.82	0.03171	.	0.823941	0.11170	N	0.592100	T	0.46776	0.1410	L	0.34521	1.04	0.39499	D	0.968173	P;P	0.47841	0.879;0.901	P;P	0.49332	0.595;0.607	T	0.57124	-0.7865	10	0.42905	T	0.14	.	14.1337	0.65273	0.5312:0.0:0.4688:0.0	.	52;52	E9PFV7;Q8WV60	.;PTCD2_HUMAN	M	52	ENSP00000370013:V52M;ENSP00000438810:V52M	ENSP00000308948:V52M	V	+	1	0	PTCD2	71653781	0.148000	0.22702	0.054000	0.19295	0.632000	0.37999	-0.083000	0.11286	-0.640000	0.05495	-0.290000	0.09829	GTG		0.284	PTCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218562.6	NM_024754	
VDAC1	7416	broad.mit.edu	37	5	133326760	133326760	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:133326760C>T	ENST00000265333.3	-	4	447	c.203G>A	c.(202-204)gGc>gAc	p.G68D	VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395044.3_Missense_Mutation_p.G68D|VDAC1_ENST00000395047.2_Missense_Mutation_p.G68D	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	68					anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	AAACGTCAGGCCGTACTCAGT	0.463																																					NSCLC(127;1776 1806 35523 41489 48154)	uc003kyp.1																			0					0						c.(202-204)GGC>GAC		voltage-dependent anion channel 1	Dihydroxyaluminium(DB01375)						190.0	170.0	177.0					5																	133326760		2203	4300	6503	SO:0001583	missense	7416				apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity	g.chr5:133326760C>T		CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.203G>A	5.37:g.133326760C>T	ENSP00000265333:p.Gly68Asp					VDAC1_uc003kyq.1_Missense_Mutation_p.G68D|VDAC1_uc003kyr.1_Missense_Mutation_p.G68D	p.G68D	NM_003374	NP_003365	P21796	VDAC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		4	302	-			68					B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	Missense_Mutation	SNP	ENST00000265333.3	37	c.203G>A	CCDS4168.1	.	.	.	.	.	.	.	.	.	.	C	35	5.499253	0.96355	.	.	ENSG00000213585	ENST00000265333;ENST00000395044;ENST00000395047;ENST00000425992	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.77491	0.4138	M	0.92169	3.28	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	T	0.81863	-0.0737	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	68	P21796	VDAC1_HUMAN	D	68	ENSP00000265333:G68D;ENSP00000378484:G68D;ENSP00000378487:G68D;ENSP00000390129:G68D	ENSP00000265333:G68D	G	-	2	0	VDAC1	133354659	1.000000	0.71417	0.951000	0.38953	0.971000	0.66376	7.750000	0.85110	2.793000	0.96121	0.655000	0.94253	GGC		0.463	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259208.1		
HLA-DOB	3112	broad.mit.edu	37	6	32782892	32782892	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr6:32782892C>T	ENST00000438763.2	-	2	386	c.290G>A	c.(289-291)aGc>aAc	p.S97N	TAP2_ENST00000452392.2_Missense_Mutation_p.S704N	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	97	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						GGCCTGTCTGCTCCTCTCCAA	0.592																																						uc011dqf.1																			0					0						c.(2110-2112)AGC>AAC		transporter 2, ATP-binding cassette, sub-family							74.0	65.0	68.0					6																	32782892		2203	4300	6503	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32782892C>T		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.290G>A	6.37:g.32782892C>T	ENSP00000390020:p.Ser97Asn					HLA-DOB_uc003oca.2_Missense_Mutation_p.S97N|HLA-DOB_uc011dqg.1_Missense_Mutation_p.S97N	p.S704N	NM_018833	NP_061313	Q03519	TAP2_HUMAN			13	2233	-			Error:Variant_position_missing_in_Q03519_after_alignment					B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP	ENST00000438763.2	37	c.2111G>A	CCDS4754.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656914	0.29425	.	.	ENSG00000241106;ENSG00000204267;ENSG00000250264	ENST00000438763;ENST00000556934;ENST00000452392	T;T	0.00333	8.07;8.07	4.28	2.47	0.30058	MHC class II, alpha/beta chain, N-terminal (1);MHC class II, beta chain, N-terminal (3);MHC classes I/II-like antigen recognition protein (1);	2.318800	0.01488	N	0.016960	T	0.00210	0.0006	L	0.39020	1.185	0.09310	N	1	D;P;D	0.69078	0.997;0.948;0.979	D;P;P	0.66602	0.945;0.507;0.76	T	0.55749	-0.8092	10	0.66056	D	0.02	.	5.1809	0.15160	0.0:0.6662:0.0:0.3338	.	97;704;97	B7Z742;E7ENX8;P13765	.;.;DOB_HUMAN	N	97;704;704	ENSP00000390020:S97N;ENSP00000391806:S704N	ENSP00000390020:S97N	S	-	2	0	XXbac-BPG246D15.9;TAP2;HLA-DOB	32890870	0.000000	0.05858	0.064000	0.19789	0.059000	0.15707	-0.056000	0.11787	1.129000	0.42072	0.596000	0.82720	AGC		0.592	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120	
FAM83B	222584	broad.mit.edu	37	6	54806575	54806575	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr6:54806575C>T	ENST00000306858.7	+	5	2922	c.2806C>T	c.(2806-2808)Cgt>Tgt	p.R936C	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	936										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGTTTACAGTCGTTTTGAGCC	0.438																																						uc003pck.2																			0				ovary(6)	6						c.(2806-2808)CGT>TGT		hypothetical protein LOC222584							102.0	93.0	96.0					6																	54806575		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54806575C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.2806C>T	6.37:g.54806575C>T	ENSP00000304078:p.Arg936Cys						p.R936C	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	2922	+	Lung NSC(77;0.0178)|Renal(3;0.122)		936					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.2806C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077901	0.76528	.	.	ENSG00000168143	ENST00000306858	T	0.25749	1.78	5.96	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.50013	-0.8877	10	0.87932	D	0	-16.5944	16.4561	0.84015	0.1324:0.8676:0.0:0.0	.	936	Q5T0W9	FA83B_HUMAN	C	936	ENSP00000304078:R936C	ENSP00000304078:R936C	R	+	1	0	FAM83B	54914534	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.167000	0.50793	1.496000	0.48567	0.655000	0.94253	CGT		0.438	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139	
DDX56	54606	broad.mit.edu	37	7	44611974	44611974	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:44611974G>A	ENST00000258772.5	-	5	723	c.617C>T	c.(616-618)gCa>gTa	p.A206V	DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.A206V	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	206	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTCCTTGAGTGCTTGTACGTC	0.473																																						uc003tlg.2																			0				upper_aerodigestive_tract(1)	1						c.(616-618)GCA>GTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 56							94.0	82.0	86.0					7																	44611974		2203	4300	6503	SO:0001583	missense	54606				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	g.chr7:44611974G>A	AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.617C>T	7.37:g.44611974G>A	ENSP00000258772:p.Ala206Val					DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.A142V|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.A206V|DDX56_uc010kyh.1_RNA	p.A206V	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN			5	1260	-			206			Helicase ATP-binding.		A4D2K9|C9JV95|Q6IAE2|Q9H9I8	Missense_Mutation	SNP	ENST00000258772.5	37	c.617C>T	CCDS5492.1	.	.	.	.	.	.	.	.	.	.	.	24.5	4.534429	0.85812	.	.	ENSG00000136271	ENST00000258772;ENST00000431640	T;T	0.44083	0.93;0.93	6.07	6.07	0.98685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.145674	0.64402	D	0.000010	T	0.42743	0.1216	L	0.43598	1.365	0.53005	D	0.999963	B;B	0.26318	0.016;0.146	B;B	0.32289	0.026;0.143	T	0.18967	-1.0320	10	0.48119	T	0.1	-3.1372	18.1378	0.89627	0.0:0.0:1.0:0.0	.	206;206	C9JV95;Q9NY93	.;DDX56_HUMAN	V	206	ENSP00000258772:A206V;ENSP00000393488:A206V	ENSP00000258772:A206V	A	-	2	0	DDX56	44578499	1.000000	0.71417	0.764000	0.31436	0.967000	0.64934	6.822000	0.75277	2.884000	0.98904	0.655000	0.94253	GCA		0.473	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251291.1	NM_019082	
MAGI2	9863	broad.mit.edu	37	7	77756518	77756518	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:77756518G>T	ENST00000354212.4	-	19	3672	c.3419C>A	c.(3418-3420)cCc>cAc	p.P1140H	MAGI2_ENST00000419488.1_Missense_Mutation_p.P1126H|MAGI2_ENST00000522391.1_Missense_Mutation_p.P1140H	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1140					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)			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)				AGGTACCTGGGGTTGTCTGTA	0.597																																						uc003ugx.2																			0				ovary(5)|lung(4)|breast(1)|skin(1)	11						c.(3418-3420)CCC>CAC		membrane associated guanylate kinase, WW and PDZ							78.0	81.0	80.0					7																	77756518		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77756518G>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.3419C>A	7.37:g.77756518G>T	ENSP00000346151:p.Pro1140His					MAGI2_uc003ugy.2_Missense_Mutation_p.P1126H|MAGI2_uc010ldx.1_Missense_Mutation_p.P733H	p.P1140H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN			19	3673	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1140					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3419C>A	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256350	0.39896	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.18016	2.24;2.24;2.24	5.33	5.33	0.75918	PDZ/DHR/GLGF (1);	0.000000	0.36482	U	0.002564	T	0.12817	0.0311	N	0.24115	0.695	0.80722	D	1	B;B;B	0.18461	0.001;0.01;0.028	B;B;B	0.15870	0.001;0.007;0.014	T	0.04467	-1.0949	10	0.49607	T	0.09	.	12.7071	0.57067	0.0758:0.0:0.9242:0.0	.	1140;1126;1140	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	H	1126;1140;1140;1140	ENSP00000405766:P1126H;ENSP00000346151:P1140H;ENSP00000428389:P1140H	ENSP00000346151:P1140H	P	-	2	0	MAGI2	77594454	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.680000	0.68168	2.644000	0.89710	0.655000	0.94253	CCC		0.597	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301	
LAMB4	22798	broad.mit.edu	37	7	107746315	107746315	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:107746315C>T	ENST00000388781.3	-	8	900	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	LAMB4_ENST00000418464.1_Missense_Mutation_p.E273K|LAMB4_ENST00000414450.2_Missense_Mutation_p.E273K|LAMB4_ENST00000205386.4_Missense_Mutation_p.E273K|LAMB4_ENST00000388780.3_Missense_Mutation_p.E273K	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	273	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGCGACATTCGCTAGCATGG	0.468																																						uc010ljo.1																			0				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8						c.(817-819)GAA>AAA		laminin, beta 4 precursor							120.0	105.0	110.0					7																	107746315		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107746315C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.817G>A	7.37:g.107746315C>T	ENSP00000373433:p.Glu273Lys					LAMB4_uc003vey.2_Missense_Mutation_p.E273K	p.E273K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN			8	901	-			273			Laminin EGF-like 1.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.817G>A	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894592	0.33442	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	4.78	0.866	0.19079	EGF-like, laminin (3);	0.265665	0.26601	N	0.023475	T	0.34658	0.0905	N	0.25825	0.765	0.09310	N	0.999999	B	0.09022	0.002	B	0.08055	0.003	T	0.18398	-1.0338	10	0.54805	T	0.06	.	0.6021	0.00746	0.2243:0.3343:0.2063:0.2351	.	273	A4D0S4	LAMB4_HUMAN	K	273	ENSP00000205386:E273K;ENSP00000373433:E273K;ENSP00000373432:E273K;ENSP00000402353:E273K;ENSP00000402265:E273K	ENSP00000205386:E273K	E	-	1	0	LAMB4	107533551	0.000000	0.05858	0.092000	0.20876	0.873000	0.50193	0.025000	0.13577	0.234000	0.21139	-0.137000	0.14449	GAA		0.468	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857	
LGI3	203190	broad.mit.edu	37	8	22005999	22005999	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:22005999G>A	ENST00000306317.2	-	8	1610	c.1321C>T	c.(1321-1323)Cgc>Tgc	p.R441C	LGI3_ENST00000424267.2_Missense_Mutation_p.R417C	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	441					exocytosis (GO:0006887)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|extracellular region (GO:0005576)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	catalytic activity (GO:0003824)			endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCAATGTAGCGGCTGAGGCAC	0.657																																						uc003xav.2																			0				ovary(1)	1						c.(1321-1323)CGC>TGC		leucine-rich repeat LGI family, member 3							39.0	36.0	37.0					8																	22005999		2203	4300	6503	SO:0001583	missense	203190				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome		g.chr8:22005999G>A	AJ487518	CCDS6025.1	8p21.2	2008-07-28			ENSG00000168481	ENSG00000168481			18711	protein-coding gene	gene with protein product		608302				12023020, 18628660	Standard	NM_139278		Approved		uc003xav.3	Q8N145	OTTHUMG00000131599	ENST00000306317.2:c.1321C>T	8.37:g.22005999G>A	ENSP00000302297:p.Arg441Cys					LGI3_uc010ltu.2_Missense_Mutation_p.R417C	p.R441C	NM_139278	NP_644807	Q8N145	LGI3_HUMAN		Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)	8	1610	-			441			EAR 5.		A5PLP2|Q86TL4|Q8N296	Missense_Mutation	SNP	ENST00000306317.2	37	c.1321C>T	CCDS6025.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395436	0.62066	.	.	ENSG00000168481	ENST00000306317;ENST00000424267	T;T	0.81163	-1.46;-1.46	5.19	5.19	0.71726	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.86539	0.5957	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86860	0.2029	10	0.59425	D	0.04	-32.7057	11.3377	0.49513	0.0:0.0:0.8185:0.1815	.	417;441	A5PLP2;Q8N145	.;LGI3_HUMAN	C	441;417	ENSP00000302297:R441C;ENSP00000399121:R417C	ENSP00000302297:R441C	R	-	1	0	LGI3	22061944	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	4.777000	0.62361	2.396000	0.81511	0.561000	0.74099	CGC		0.657	LGI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254482.1		
NRG1	3084	broad.mit.edu	37	8	32599524	32599524	+	Splice_Site	SNP	A	A	G			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:32599524A>G	ENST00000405005.3	+	7	632		c.e7-1		NRG1_ENST00000539990.1_Intron|NRG1_ENST00000338921.4_Splice_Site|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Splice_Site|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000521670.1_Splice_Site			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTTGCCCTCTAGGTGCCAACC	0.378																																						uc003xiv.2																			0					0						c.e7-2		neuregulin 1 isoform HRG-alpha							116.0	107.0	110.0					8																	32599524		2203	4300	6503	SO:0001630	splice_region_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32599524A>G	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.633-1A>G	8.37:g.32599524A>G						NRG1_uc003xip.2_Intron|NRG1_uc010lvn.2_Intron|NRG1_uc003xis.2_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Splice_Site_p.K211_splice|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.2_Splice_Site_p.K101_splice|NRG1_uc003xiy.2_Intron|NRG1_uc010lvt.2_Intron|NRG1_uc011lbg.1_Splice_Site_p.K57_splice|NRG1_uc011lbh.1_Intron|NRG1_uc003xiz.1_Splice_Site|NRG1_uc003xja.2_Splice_Site_p.K14_splice	p.K211_splice	NM_013964	NP_039258	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	7	1150	+		Breast(100;0.203)						A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Splice_Site	SNP	ENST00000405005.3	37	c.633_splice	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.860462	0.71834	.	.	ENSG00000157168	ENST00000338921;ENST00000287840;ENST00000341377;ENST00000405005;ENST00000521670;ENST00000518206;ENST00000522402	.	.	.	6.07	6.07	0.98685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRG1	32719066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.372000	0.90127	2.326000	0.78906	0.533000	0.62120	.		0.378	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1		Intron
GML	2765	broad.mit.edu	37	8	143928002	143928002	+	Missense_Mutation	SNP	G	G	A	rs181298814		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:143928002G>A	ENST00000220940.1	+	4	463	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	125	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATGTTACCCGATGAAGTAAC	0.418													g|||	1	0.000199681	0.0	0.0	5008	,	,		17855	0.0		0.001	False		,,,				2504	0.0					uc003yxg.2																			0				central_nervous_system(2)	2						c.(373-375)GAT>AAT		glycosylphosphatidylinositol anchored molecule							111.0	108.0	109.0					8																	143928002		2203	4300	6503	SO:0001583	missense	2765				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		g.chr8:143928002G>A	D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.373G>A	8.37:g.143928002G>A	ENSP00000220940:p.Asp125Asn						p.D125N	NM_002066	NP_002057	Q99445	GML_HUMAN			4	463	+	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		125			UPAR/Ly6.		A0AVF6|O00686|O00731	Missense_Mutation	SNP	ENST00000220940.1	37	c.373G>A	CCDS6391.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	N	15.04	2.715915	0.48622	.	.	ENSG00000104499	ENST00000220940	T	0.48522	0.81	3.52	1.58	0.23477	.	0.831620	0.10132	N	0.711911	T	0.44393	0.1291	L	0.40543	1.245	0.09310	N	1	D	0.71674	0.998	P	0.51582	0.674	T	0.29761	-1.0001	10	0.66056	D	0.02	-13.3781	4.0446	0.09766	0.1254:0.0:0.6025:0.2721	.	125	Q99445	GML_HUMAN	N	125	ENSP00000220940:D125N	ENSP00000220940:D125N	D	+	1	0	GML	143925004	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.348000	0.07740	0.405000	0.25532	0.557000	0.71058	GAT		0.418	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066	
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	-	A			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr9:5304560_5304561insA	ENST00000381627.3	-	1	408_409	c.20_21insT	c.(19-21)ttcfs	p.F7fs	RLN2_ENST00000308420.3_Frame_Shift_Ins_p.F7fs	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	7					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535																																						uc003zja.1																			0					0						c.(19-21)TTCfs		relaxin 2 isoform 1 preproprotein			,	5,4259		0,5,2127					,	0.2	0.1			64	20,8234		0,20,4107	no	frameshift,frameshift	RLN2	NM_134441.1,NM_005059.2	,	0,25,6234	A1A1,A1R,RR		0.2423,0.1173,0.1997	,	,		25,12493				SO:0001589	frameshift_variant	6019				female pregnancy	extracellular region	hormone activity	g.chr9:5304560_5304561insA		CCDS6460.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107014	ENSG00000107014		"""Endogenous ligands"""	10027	protein-coding gene	gene with protein product	"""relaxin H2"", ""prorelaxin H2"", ""relaxin, ovarian, of pregnancy"""	179740	"""relaxin 2 (H2)"""			6548703, 6548702	Standard	NM_134441		Approved	H2, RLXH2, bA12D24.1.1, bA12D24.1.2	uc003zja.2	P04090	OTTHUMG00000019496	ENST00000381627.3:c.21dupT	9.37:g.5304568_5304568dupA	ENSP00000371040:p.Phe7fs					RLN2_uc003ziz.1_Frame_Shift_Ins_p.F7fs	p.F7fs	NM_134441	NP_604390	P04090	REL2_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)	1	20_21	-	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	7					A0AVM0|Q99936|Q9UCX3|Q9UQJ2	Frame_Shift_Ins	INS	ENST00000381627.3	37	c.20_21insT	CCDS6460.1																																																																																				0.535	RLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051619.1	NM_134441	
OR2K2	26248	broad.mit.edu	37	9	114090554	114090554	+	Missense_Mutation	SNP	G	G	A	rs117283259	byFrequency	TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr9:114090554G>A	ENST00000374428.1	-	1	246	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	OR2K2_ENST00000302681.1_Missense_Mutation_p.R54C			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTTTTAAGGCGTGAATCTAGG	0.433													G|||	5	0.000998403	0.003	0.0	5008	,	,		19793	0.0		0.001	False		,,,				2504	0.0					uc011lwp.1																			0				ovary(1)	1						c.(160-162)CGC>TGC		olfactory receptor, family 2, subfamily K,		G	CYS/ARG	14,4392	21.2+/-45.6	0,14,2189	93.0	93.0	93.0		160	2.8	0.0	9	dbSNP_132	93	0,8600		0,0,4300	yes	missense	OR2K2	NM_205859.1	180	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	benign	54/317	114090554	14,12992	2203	4300	6503	SO:0001583	missense	26248				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:114090554G>A	X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.247C>T	9.37:g.114090554G>A	ENSP00000363550:p.Arg83Cys						p.R54C	NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN			1	160	-			83			Cytoplasmic (Potential).		Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	ENST00000374428.1	37	c.160C>T		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	4.121	0.020744	0.08006	0.003177	0.0	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.00450	7.36;7.36	4.67	2.84	0.33178	GPCR, rhodopsin-like superfamily (1);	0.561518	0.14769	N	0.299533	T	0.00440	0.0014	M	0.70275	2.135	0.09310	N	1	B	0.23490	0.086	B	0.10450	0.005	T	0.38735	-0.9647	10	0.56958	D	0.05	.	9.3414	0.38082	0.1771:0.0:0.8229:0.0	.	83	Q8NGT1	OR2K2_HUMAN	C	54;83	ENSP00000305055:R54C;ENSP00000363550:R83C	ENSP00000305055:R54C	R	-	1	0	OR2K2	113130375	0.000000	0.05858	0.003000	0.11579	0.152000	0.21847	0.414000	0.21164	0.714000	0.32081	0.655000	0.94253	CGC		0.433	OR2K2-201	KNOWN	basic	protein_coding	protein_coding		NM_205859	
