#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
NBPF1	55672	broad.mit.edu	37	1	16892156	16892156	+	Silent	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:16892156T>C	ENST00000430580.2	-	27	3923	c.3036A>G	c.(3034-3036)aaA>aaG	p.K1012K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1012	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGCCAACATGTTTTTCCTCCA	0.438																																						uc009vos.1																			0											c.(3034-3036)aaA>aaG		Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							133.0	129.0	130.0					1																	16892156		1477	2601	4078	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16892156T>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3036A>G	1.37:g.16892156T>C						AB1_uc001ayw.3_5'Flank	p.K1012K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	26	3924	-			1012			NBPF 6.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.3036A>G																																																																																					0.438	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	
MST1L	11223	broad.mit.edu	37	1	17083787	17083787	+	RNA	SNP	G	G	A	rs201551314	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:17083787G>A	ENST00000455405.2	-	0	801							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GCGTGAAGACGGCTGGCCAGC	0.552																																						uc010ock.2																			0				breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						c.(2008-2010)gcC>gcT		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.																																						11223							g.chr1:17083787G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083787G>A						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.A270A	p.A670A							14	2010	-								B7WPB1|Q13209	Silent	SNP	ENST00000455405.2	37	c.2010C>T																																																																																					0.552	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
EPHA8	2046	broad.mit.edu	37	1	22924331	22924331	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:22924331G>A	ENST00000166244.3	+	11	2165	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACATCATCCGCCTCGAGGGT	0.642																																						uc001bfx.1																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(2092-2094)cGc>cAc		Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.							84.0	84.0	84.0					1																	22924331		2203	4300	6503	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22924331G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2093G>A	1.37:g.22924331G>A	ENSP00000166244:p.Arg698His						p.R698H	NM_020526	NP_065387	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	10	2218	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	698			Protein kinase.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.2093G>A	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.281759	0.23392	.	.	ENSG00000070886	ENST00000166244	T	0.64803	-0.12	4.56	2.52	0.30459	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.214192	0.40640	N	0.001046	T	0.54695	0.1874	M	0.78456	2.415	0.80722	D	1	B	0.14805	0.011	B	0.08055	0.003	T	0.44952	-0.9294	10	0.11485	T	0.65	.	7.3158	0.26499	0.2717:0.0:0.7283:0.0	.	698	P29322	EPHA8_HUMAN	H	698	ENSP00000166244:R698H	ENSP00000166244:R698H	R	+	2	0	EPHA8	22796918	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.293000	0.33353	1.137000	0.42214	0.462000	0.41574	CGC		0.642	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
ATP1A2	477	broad.mit.edu	37	1	160106465	160106465	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:160106465G>A	ENST00000361216.3	+	19	2758	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R890Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	890					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGATGACCGGACCATGAAT	0.552																																						uc001fvc.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(2668-2670)cGg>cAg		Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.							97.0	87.0	91.0					1																	160106465		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160106465G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2669G>A	1.37:g.160106465G>A	ENSP00000354490:p.Arg890Gln					ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R609Q	p.R890Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		18	2801	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		890					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.2669G>A	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367881|3.367881	0.61513|0.61513	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.88664	.|-2.41;-2.41	4.71|4.71	4.71|4.71	0.59529|0.59529	.|ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79441|0.79441	0.4446|0.4446	L|L	0.43757|0.43757	1.38|1.38	0.48452|0.48452	D|D	0.999657|0.999657	.|B;B	.|0.18610	.|0.029;0.015	.|B;B	.|0.15870	.|0.013;0.014	T|T	0.76353|0.76353	-0.2990|-0.2990	5|10	.|0.38643	.|T	.|0.18	.|.	15.5314|15.5314	0.75964|0.75964	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|790;890	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	R|Q	584|890;890;593	.|ENSP00000354490:R890Q;ENSP00000376066:R890Q	.|ENSP00000354490:R890Q	G|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158373089|158373089	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	4.368000|4.368000	0.59505|0.59505	2.590000|2.590000	0.87494|0.87494	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.552	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	
SLC26A9	115019	broad.mit.edu	37	1	205897957	205897957	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:205897957G>A	ENST00000367135.3	-	8	1064	c.951C>T	c.(949-951)cgC>cgT	p.R317R	SLC26A9_ENST00000340781.4_Silent_p.R317R|SLC26A9_ENST00000367134.2_Silent_p.R317R	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	317					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGACTCACCCGCGTTGGATTT	0.577																																						uc001hdp.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(949-951)cgC>cgT		Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.							66.0	59.0	61.0					1																	205897957		2203	4300	6503	SO:0001819	synonymous_variant	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205897957G>A	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.951C>T	1.37:g.205897957G>A						SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Silent_p.R317R	p.R317R	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		7	1065	-	Breast(84;0.201)		317					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Silent	SNP	ENST00000367135.3	37	c.951C>T	CCDS30990.1																																																																																				0.577	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934	
RYR2	6262	broad.mit.edu	37	1	237659969	237659969	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:237659969C>A	ENST00000366574.2	+	20	2437	c.2120C>A	c.(2119-2121)cCt>cAt	p.P707H	RYR2_ENST00000360064.6_Missense_Mutation_p.P705H|RYR2_ENST00000542537.1_Missense_Mutation_p.P691H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	707	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTCCCTACCCTGGAGGGGGC	0.507																																						uc001hyl.1																			0		p.G707A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(2119-2121)cCt>cAt		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							120.0	126.0	124.0					1																	237659969		1940	4144	6084	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237659969C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2120C>A	1.37:g.237659969C>A	ENSP00000355533:p.Pro707His						p.P707H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		19	2240	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	707			B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2120C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	32	5.124568	0.94429	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97480	-4.4;-4.37;-4.38	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000005	D	0.98877	0.9620	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99243	1.0885	10	0.87932	D	0	.	20.4581	0.99154	0.0:1.0:0.0:0.0	.	707	Q92736	RYR2_HUMAN	H	707;705;691	ENSP00000355533:P707H;ENSP00000353174:P705H;ENSP00000443798:P691H	ENSP00000353174:P705H	P	+	2	0	RYR2	235726592	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	7.776000	0.85560	2.835000	0.97688	0.650000	0.86243	CCT		0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
ADARB2	105	broad.mit.edu	37	10	1284235	1284235	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:1284235C>T	ENST00000381312.1	-	5	1645	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A	ADARB2_ENST00000469464.1_5'Flank	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	440	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		AGTGCAGGAACGCCCGCCGGG	0.706																																						uc009xhq.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(1318-1320)gcG>gcA		Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.							28.0	26.0	27.0					10																	1284235		2200	4295	6495	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1284235C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1320G>A	10.37:g.1284235C>T							p.A440A	NM_018702	NP_061172	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	4	1646	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	440			A to I editase.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.1320G>A	CCDS7058.1																																																																																				0.706	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
C10orf71	118461	broad.mit.edu	37	10	50530623	50530623	+	Silent	SNP	G	G	A	rs370127754		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:50530623G>A	ENST00000374144.3	+	3	321	c.33G>A	c.(31-33)gcG>gcA	p.A11A	C10orf71_ENST00000323868.4_Silent_p.A11A			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	11								p.A11A(2)		endometrium(1)	1						GCACAGACGCGTTCAGCGACT	0.542																																						uc021pqb.1																			2	Substitution - coding silent(2)	p.A11A(2)	large_intestine(2)	endometrium(1)	1						c.(31-33)gcG>gcA		Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.		G	,	1,4305		0,1,2152	38.0	41.0	40.0		33,33	-3.0	0.9	10		40	0,8500		0,0,4250	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	0,1,6402	AA,AG,GG		0.0,0.0232,0.0078	,	11/1436,11/720	50530623	1,12805	2153	4250	6403	SO:0001819	synonymous_variant	118461							g.chr10:50530623G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.33G>A	10.37:g.50530623G>A						C10orf71_uc021pqa.1_Silent_p.A10A|C10orf71_uc021pqc.1_Silent_p.A11A	p.A11A	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN			0	33	+			11					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.33G>A	CCDS44387.1																																																																																				0.542	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
ANK3	288	broad.mit.edu	37	10	62149275	62149275	+	Missense_Mutation	SNP	A	A	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:62149275A>C	ENST00000280772.2	-	1	213	c.22T>G	c.(22-24)Tta>Gta	p.L8V	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	8					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTTCTTTAATTGTGAGGCT	0.423																																						uc001jky.3																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(22-24)Tta>Gta		Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.							137.0	134.0	135.0					10																	62149275		2203	4299	6502	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:62149275A>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.22T>G	10.37:g.62149275A>C	ENSP00000280772:p.Leu8Val					ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jlb.1_Intron	p.L8V	NM_020987	NP_066267	Q12955	ANK3_HUMAN			0	360	-			8					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.22T>G	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979635	0.34942	.	.	ENSG00000151150	ENST00000280772	T	0.64438	-0.1	5.74	3.42	0.39159	.	.	.	.	.	T	0.57066	0.2028	N	0.08118	0	0.80722	D	1	D	0.63880	0.993	D	0.70016	0.967	T	0.59611	-0.7422	9	0.66056	D	0.02	.	7.7949	0.29141	0.7734:0.0:0.2266:0.0	.	8	Q12955	ANK3_HUMAN	V	8	ENSP00000280772:L8V	ENSP00000280772:L8V	L	-	1	2	ANK3	61819281	0.747000	0.28283	0.995000	0.50966	0.993000	0.82548	0.445000	0.21677	0.459000	0.27016	0.533000	0.62120	TTA		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ECHS1	1892	broad.mit.edu	37	10	135183513	135183513	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:135183513C>T	ENST00000368547.3	-	3	664	c.309G>A	c.(307-309)atG>atA	p.M103I	MIR3944_ENST00000581277.1_RNA	NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	103					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TCAGGTTCTGCATTTCCTTGA	0.517																																					GBM(132;1720 1771 5373 10277 21402)	uc001lmu.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10						c.(307-309)atG>atA		Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.							145.0	121.0	129.0					10																	135183513		2202	4300	6502	SO:0001583	missense	1892				fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding	g.chr10:135183513C>T		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.309G>A	10.37:g.135183513C>T	ENSP00000357535:p.Met103Ile						p.M103I	NM_004092	NP_004083	P30084	ECHM_HUMAN		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)	2	380	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	103					O00739|Q5VWY1|Q96H54	Missense_Mutation	SNP	ENST00000368547.3	37	c.309G>A	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622455	0.87460	.	.	ENSG00000127884	ENST00000368547	T	0.67345	-0.26	5.63	5.63	0.86233	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.75012	0.3792	L	0.46157	1.445	0.80722	D	1	P	0.43542	0.81	P	0.55824	0.785	T	0.76361	-0.2987	10	0.87932	D	0	.	17.237	0.87001	0.0:1.0:0.0:0.0	.	103	P30084	ECHM_HUMAN	I	103	ENSP00000357535:M103I	ENSP00000357535:M103I	M	-	3	0	ECHS1	135033503	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	6.933000	0.75874	2.662000	0.90505	0.555000	0.69702	ATG		0.517	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051156.1		
KBTBD4	55709	broad.mit.edu	37	11	47594600	47594600	+	Missense_Mutation	SNP	C	C	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:47594600C>G	ENST00000526005.1	-	4	1592	c.1439G>C	c.(1438-1440)cGg>cCg	p.R480P	KBTBD4_ENST00000395288.2_Missense_Mutation_p.R480P|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R496P|NDUFS3_ENST00000533507.1_Intron|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000533290.1_Missense_Mutation_p.R505P			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	480										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATATCGGTCCCGGAAGACATA	0.527																																						uc001nfx.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(1438-1440)cGg>cCg		Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.							72.0	61.0	64.0					11																	47594600		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47594600C>G	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.1439G>C	11.37:g.47594600C>G	ENSP00000433340:p.Arg480Pro					PTPMT1_uc001nfs.4_3'UTR|PTPMT1_uc001nfv.4_3'UTR|PTPMT1_uc009ylt.3_3'UTR|PTPMT1_uc001nfu.4_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Missense_Mutation_p.R505P|KBTBD4_uc001nfz.3_Missense_Mutation_p.R496P|KBTBD4_uc001nfy.3_Missense_Mutation_p.R480P	p.R480P	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN			3	1610	-			480					D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.1439G>C	CCDS7940.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434124	0.83776	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.81	5.81	0.92471	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.69070	0.3070	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.994;0.986;0.97	T	0.69064	-0.5244	10	0.41790	T	0.15	-18.2529	20.0745	0.97737	0.0:1.0:0.0:0.0	.	496;480;505	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	P	480;505;480;496	ENSP00000433340:R480P;ENSP00000436713:R505P;ENSP00000378703:R480P;ENSP00000415106:R496P	ENSP00000378703:R480P	R	-	2	0	KBTBD4	47551176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.748000	0.94277	0.462000	0.41574	CGG		0.527	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506	
OR5AR1	219493	broad.mit.edu	37	11	56432005	56432005	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:56432005A>G	ENST00000302969.2	+	1	868	c.844A>G	c.(844-846)Atc>Gtc	p.I282V		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CACGGTTATCATCCCCATGTT	0.423																																						uc010rjm.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						c.(844-846)Atc>Gtc		Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.							74.0	71.0	72.0					11																	56432005		2201	4296	6497	SO:0001583	missense	219493				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56432005A>G	AB065740	CCDS31535.1	11q11	2013-10-10	2013-10-10		ENSG00000172459	ENSG00000172459		"""GPCR / Class A : Olfactory receptors"""	15260	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AR, member 1"""				Standard	NM_001004730		Approved		uc010rjm.2	Q8NGP9	OTTHUMG00000154213	ENST00000302969.2:c.844A>G	11.37:g.56432005A>G	ENSP00000302639:p.Ile282Val					OR8U8_uc001nit.2_Intron	p.I282V	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN			0	844	+			282					Q6IF61	Missense_Mutation	SNP	ENST00000302969.2	37	c.844A>G	CCDS31535.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.174746	0.38413	.	.	ENSG00000172459	ENST00000302969	T	0.37058	1.22	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000180	T	0.34106	0.0886	L	0.54908	1.71	0.25286	N	0.989392	B	0.21905	0.062	B	0.30251	0.113	T	0.31420	-0.9944	10	0.56958	D	0.05	.	7.2703	0.26252	0.7094:0.1482:0.0:0.1424	.	282	Q8NGP9	O5AR1_HUMAN	V	282	ENSP00000302639:I282V	ENSP00000302639:I282V	I	+	1	0	OR5AR1	56188581	0.000000	0.05858	1.000000	0.80357	0.775000	0.43874	0.400000	0.20932	2.128000	0.65567	0.467000	0.42956	ATC		0.423	OR5AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334434.1	NM_001004730	
PRSS23	11098	broad.mit.edu	37	11	86519032	86519032	+	Missense_Mutation	SNP	G	G	A	rs371463722		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:86519032G>A	ENST00000280258.5	+	2	772	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	PRSS23_ENST00000441050.1_Missense_Mutation_p.R84Q|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	116						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCAACACCGAGACTCAGGG	0.517																																						uc021qok.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18						c.(346-348)cGa>cAa		Homo sapiens protease, serine, 23 (PRSS23), mRNA.		G	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	70.0	65.0	67.0		347	-6.1	0.0	11		67	0,8598		0,0,4299	no	missense	PRSS23	NM_007173.4	43	0,1,6499	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	116/384	86519032	1,12999	2201	4299	6500	SO:0001583	missense	11098				proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	g.chr11:86519032G>A	AF015287	CCDS8278.1	11q14.2	2010-05-12			ENSG00000150687	ENSG00000150687		"""Serine peptidases / Serine peptidases"""	14370	protein-coding gene	gene with protein product							Standard	XM_005273727		Approved	SPUVE, SIG13	uc001pcb.3	O95084		ENST00000280258.5:c.347G>A	11.37:g.86519032G>A	ENSP00000280258:p.Arg116Gln					PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.R84Q|PRSS23_uc001pcb.3_Missense_Mutation_p.R116Q	p.R116Q	NM_007173	NP_009104	O95084	PRS23_HUMAN			0	347	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	116					B2RDJ1|B4E2J3|Q6IBI0	Missense_Mutation	SNP	ENST00000280258.5	37	c.347G>A	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.546669	0.00140	2.27E-4	0.0	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	3.05	-6.1	0.02138	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	1.484310	0.03695	N	0.247722	T	0.26774	0.0655	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15122	-1.0448	8	.	.	.	2.1939	8.3129	0.32082	0.6717:0.1308:0.1975:0.0	.	84;116	B4E2J3;O95084	.;PRS23_HUMAN	Q	116;116;84	.	.	R	+	2	0	PRSS23	86196680	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.227000	0.02950	-2.121000	0.00825	-0.743000	0.03520	CGA		0.517	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	NM_007173	
PVRL1	5818	broad.mit.edu	37	11	119510587	119510587	+	Missense_Mutation	SNP	G	G	A	rs545782858	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:119510587G>A	ENST00000341398.2	-	6	1138	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	RP11-196E1.3_ENST00000532153.1_RNA|RP11-196E1.3_ENST00000601999.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGCCCCATCCGTCTCCGGTGG	0.622													G|||	3	0.000599042	0.0008	0.0	5008	,	,		16968	0.0		0.0	False		,,,				2504	0.002					uc001pwu.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1138-1140)aCg>aTg		Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 2, mRNA.							38.0	41.0	40.0					11																	119510587		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119510587G>A	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000341398.2:c.1139C>T	11.37:g.119510587G>A	ENSP00000344974:p.Thr380Met						p.T380M	NM_203285	NP_976030	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	5	1311	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	0					O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000341398.2	37	c.1139C>T	CCDS8425.1	.	.	.	.	.	.	.	.	.	.	G	9.810	1.182925	0.21870	.	.	ENSG00000110400	ENST00000341398	T	0.74842	-0.88	3.82	-3.19	0.05171	.	.	.	.	.	T	0.43523	0.1251	N	0.02802	-0.49	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.19778	-1.0295	9	0.34782	T	0.22	.	4.6962	0.12804	0.3747:0.1845:0.4408:0.0	.	380	Q15223-2	.	M	380	ENSP00000344974:T380M	ENSP00000344974:T380M	T	-	2	0	PVRL1	119015797	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.495000	0.06443	-0.651000	0.05415	0.462000	0.41574	ACG		0.622	PVRL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388230.1		
KIRREL3	84623	broad.mit.edu	37	11	126343282	126343282	+	Silent	SNP	G	G	A	rs376743687		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:126343282G>A	ENST00000525144.2	-	5	762	c.513C>T	c.(511-513)caC>caT	p.H171H	KIRREL3_ENST00000525704.2_Silent_p.H171H|KIRREL3_ENST00000529097.2_Silent_p.H171H	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	171	Ig-like C2-type 2.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CATTGTCTGCGTGGCAGGTGA	0.642																																						uc001qea.3																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(511-513)caC>caT		Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.			,	1,4165		0,1,2082	39.0	45.0	43.0		513,513	-2.8	1.0	11		43	0,8394		0,0,4197	no	coding-synonymous,coding-synonymous	KIRREL3	NM_001161707.1,NM_032531.3	,	0,1,6279	AA,AG,GG		0.0,0.024,0.0080	,	171/601,171/779	126343282	1,12559	2083	4197	6280	SO:0001819	synonymous_variant	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126343282G>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.513C>T	11.37:g.126343282G>A						KIRREL3_uc001qeb.3_Silent_p.H171H|KIRREL3_uc001qec.1_Silent_p.H171H	p.H171H	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	4	874	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	171			Ig-like C2-type 2.		Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Silent	SNP	ENST00000525144.2	37	c.513C>T	CCDS53723.1																																																																																				0.642	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531	
A2M	2	broad.mit.edu	37	12	9230302	9230302	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:9230302T>C	ENST00000318602.7	-	26	3578	c.3271A>G	c.(3271-3273)Ata>Gta	p.I1091V	A2M_ENST00000542567.1_5'Flank	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1091					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	TTCACCTTTATGGCATTGTTG	0.443																																						uc001qvk.1																			0				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77						c.(3271-3273)Ata>Gta		Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	Bacitracin(DB00626)|Becaplermin(DB00102)						88.0	89.0	89.0					12																	9230302		2203	4300	6503	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9230302T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.3271A>G	12.37:g.9230302T>C	ENSP00000323929:p.Ile1091Val					A2M_uc009zgk.1_Missense_Mutation_p.I941V	p.I1091V	NM_000014	NP_000005	P01023	A2MG_HUMAN			25	3384	-			1091					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.3271A>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.731705	0.48939	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.31769	1.48	5.76	4.57	0.56435	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.324480	0.31949	N	0.006811	T	0.37892	0.1020	M	0.67953	2.075	0.28285	N	0.923822	B	0.23128	0.08	B	0.33121	0.158	T	0.41680	-0.9495	10	0.62326	D	0.03	.	13.9334	0.64010	0.0:0.0:0.1845:0.8155	.	1091	P01023	A2MG_HUMAN	V	1091;1106	ENSP00000323929:I1091V	ENSP00000323929:I1091V	I	-	1	0	A2M	9121569	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	2.721000	0.47260	2.199000	0.70637	0.477000	0.44152	ATA		0.443	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	
PZP	5858	broad.mit.edu	37	12	9345184	9345184	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:9345184G>A	ENST00000261336.2	-	12	1434	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PZP_ENST00000381997.2_Missense_Mutation_p.T338M	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	469					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.T338M(1)|p.T469M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATAGTCTCCGTGTGGCCACA	0.512																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.3																			2	Substitution - Missense(2)	p.T469M(2)|p.T338M(1)	kidney(2)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(1405-1407)aCg>aTg		Homo sapiens pregnancy-zone protein (PZP), mRNA.							94.0	93.0	93.0					12																	9345184		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9345184G>A	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1406C>T	12.37:g.9345184G>A	ENSP00000261336:p.Thr469Met					PZP_uc009zgl.3_Missense_Mutation_p.T338M	p.T469M	NM_002864	NP_002855					11	1435	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.1406C>T	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912499	0.33721	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.65732	-0.17;-0.17	3.23	-2.25	0.06888	Alpha-2-macroglobulin, N-terminal 2 (1);	1.422160	0.04634	U	0.404113	T	0.72153	0.3425	M	0.70903	2.155	0.09310	N	1	D;D	0.76494	0.999;0.958	D;B	0.69654	0.965;0.298	T	0.59059	-0.7525	10	0.49607	T	0.09	.	3.0205	0.06073	0.5072:0.0:0.2838:0.209	.	338;469	P20742-2;P20742	.;PZP_HUMAN	M	469;338	ENSP00000261336:T469M;ENSP00000371427:T338M	ENSP00000261336:T469M	T	-	2	0	PZP	9236451	0.000000	0.05858	0.018000	0.16275	0.179000	0.23085	-0.256000	0.08757	-0.228000	0.09869	0.313000	0.20887	ACG		0.512	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864	
KLRC1	3821	broad.mit.edu	37	12	10600149	10600149	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:10600149C>T	ENST00000359151.3	-	6	753	c.572G>A	c.(571-573)gGt>gAt	p.G191D	KLRC1_ENST00000536188.1_Missense_Mutation_p.G191D|KLRC1_ENST00000408006.3_Missense_Mutation_p.G173D|KLRC1_ENST00000347831.5_Missense_Mutation_p.G173D|KLRC1_ENST00000544822.1_Missense_Mutation_p.G191D	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	191	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						GAAAGCCAAACCATTCATTGT	0.323																																						uc001qyl.3																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						c.(571-573)gGt>gAt		Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.							118.0	109.0	112.0					12																	10600149		2203	4300	6503	SO:0001583	missense	3821				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	g.chr12:10600149C>T	U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.572G>A	12.37:g.10600149C>T	ENSP00000352064:p.Gly191Asp					KLRC1_uc009zhm.2_Missense_Mutation_p.G191D|KLRC1_uc001qym.3_Missense_Mutation_p.G173D|KLRC1_uc001qyn.3_Missense_Mutation_p.G191D|KLRC1_uc001qyo.3_Missense_Mutation_p.G173D	p.G191D	NM_002259	NP_998823	P26715	NKG2A_HUMAN			5	786	-			191			C-type lectin.			Missense_Mutation	SNP	ENST00000359151.3	37	c.572G>A	CCDS8625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.74|10.74	1.436458|1.436458	0.25813|0.25813	.|.	.|.	ENSG00000134545|ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822|ENST00000543893	T;T;T;T;T|.	0.33216|.	1.42;1.42;1.42;1.42;1.42|.	2.34|2.34	2.34|2.34	0.29019|0.29019	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);|.	0.203139|.	0.24757|.	N|.	0.035851|.	T|T	0.60715|0.60715	0.2290|0.2290	M|M	0.85777|0.85777	2.775|2.775	0.09310|0.09310	N|N	0.999999|0.999999	P;D|.	0.76494|.	0.934;0.999|.	P;D|.	0.68353|.	0.507;0.957|.	T|T	0.52593|0.52593	-0.8555|-0.8555	10|5	0.41790|.	T|.	0.15|.	.|.	8.3052|8.3052	0.32038|0.32038	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	173;191|.	P26715-2;P26715|.	.;NKG2A_HUMAN|.	D|I	191;191;173;173;191|71	ENSP00000441432:G191D;ENSP00000352064:G191D;ENSP00000385304:G173D;ENSP00000256965:G173D;ENSP00000438038:G191D|.	ENSP00000256965:G173D|.	G|V	-|-	2|1	0|0	KLRC1|KLRC1	10491416|10491416	0.000000|0.000000	0.05858|0.05858	0.126000|0.126000	0.21872|0.21872	0.002000|0.002000	0.02628|0.02628	-0.019000|-0.019000	0.12546|0.12546	1.608000|1.608000	0.50180|0.50180	0.398000|0.398000	0.26397|0.26397	GGT|GTT		0.323	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400115.1	NM_002259	
LRRK2	120892	broad.mit.edu	37	12	40715936	40715936	+	Missense_Mutation	SNP	A	A	G	rs368762897		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:40715936A>G	ENST00000298910.7	+	36	5328	c.5270A>G	c.(5269-5271)aAt>aGt	p.N1757S		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1757					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCTTAGACAATCATCCAGAG	0.353																																						uc001rmg.4																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(5269-5271)aAt>aGt		Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.		A	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	73.0	76.0	75.0		5270	1.9	0.1	12		75	0,8598		0,0,4299	no	missense	LRRK2	NM_198578.3	46	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	benign	1757/2528	40715936	1,13003	2203	4299	6502	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40715936A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5270A>G	12.37:g.40715936A>G	ENSP00000298910:p.Asn1757Ser					LRRK2_uc009zjw.3_Missense_Mutation_p.N595S|LRRK2_uc001rmi.3_Missense_Mutation_p.N590S	p.N1757S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			35	5391	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1757					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5270A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	10.93	1.488801	0.26686	2.27E-4	0.0	ENSG00000188906	ENST00000298910	T	0.71103	-0.54	5.73	1.9	0.25705	.	1.089310	0.06771	N	0.783570	T	0.47581	0.1453	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.001	T	0.28522	-1.0041	10	0.19590	T	0.45	.	5.6299	0.17504	0.6615:0.1326:0.2059:0.0	.	1757;1757	Q17RV3;Q5S007	.;LRRK2_HUMAN	S	1757	ENSP00000298910:N1757S	ENSP00000298910:N1757S	N	+	2	0	LRRK2	39002203	0.998000	0.40836	0.070000	0.20053	0.983000	0.72400	2.174000	0.42482	0.069000	0.16605	0.454000	0.30748	AAT		0.353	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
COL2A1	1280	broad.mit.edu	37	12	48372465	48372465	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:48372465G>A	ENST00000380518.3	-	42	2974	c.2810C>T	c.(2809-2811)cCc>cTc	p.P937L	COL2A1_ENST00000337299.6_Missense_Mutation_p.P868L|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	937	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCGGCCAGGGGGGCCGCTGTC	0.632																																						uc001rqu.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(2809-2811)cCc>cTc		Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	Collagenase(DB00048)						28.0	30.0	30.0					12																	48372465		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48372465G>A	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.2810C>T	12.37:g.48372465G>A	ENSP00000369889:p.Pro937Leu					COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P868L	p.P937L	NM_001844	NP_001835	P02458	CO2A1_HUMAN			41	2991	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	937			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.2810C>T	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678630	0.47886	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.96685	-4.09;-4.09	5.46	5.46	0.80206	.	0.064498	0.64402	D	0.000007	D	0.94686	0.8286	L	0.45744	1.44	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.004	D	0.91373	0.5121	10	0.72032	D	0.01	.	18.9166	0.92508	0.0:0.0:1.0:0.0	.	868;937	P02458-1;P02458	.;CO2A1_HUMAN	L	937;868;868	ENSP00000369889:P937L;ENSP00000338213:P868L	ENSP00000338213:P868L	P	-	2	0	COL2A1	46658732	1.000000	0.71417	0.127000	0.21898	0.200000	0.23975	6.729000	0.74775	2.573000	0.86826	0.655000	0.94253	CCC		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844	
WNT1	7471	broad.mit.edu	37	12	49374347	49374348	+	Frame_Shift_Ins	INS	-	-	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:49374347_49374348insG	ENST00000293549.3	+	3	535_536	c.499_500insG	c.(499-501)tggfs	p.W167fs		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	167					bone development (GO:0060348)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to peptide hormone stimulus (GO:0071375)|central nervous system morphogenesis (GO:0021551)|cerebellum formation (GO:0021588)|diencephalon development (GO:0021536)|embryonic axis specification (GO:0000578)|forebrain anterior/posterior pattern specification (GO:0021797)|hematopoietic stem cell proliferation (GO:0071425)|hepatocyte differentiation (GO:0070365)|inner ear morphogenesis (GO:0042472)|midbrain development (GO:0030901)|midbrain-hindbrain boundary maturation during brain development (GO:0022004)|myoblast fusion (GO:0007520)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell aging (GO:0090344)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|neuron fate determination (GO:0048664)|organ regeneration (GO:0031100)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dermatome development (GO:0061184)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to wounding (GO:0009611)|signal transduction in response to DNA damage (GO:0042770)|Spemann organizer formation (GO:0060061)|spinal cord association neuron differentiation (GO:0021527)|T cell differentiation in thymus (GO:0033077)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|transcription regulatory region DNA binding (GO:0044212)	p.G169fs*30(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		cgACTGGCACTGGGGGGGCTGC	0.683																																						uc001rsu.3																			1	Deletion - Frameshift(1)	p.G169fs*30(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11						c.(499-501)tggfs		Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.																																				SO:0001589	frameshift_variant	7471				brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	g.chr12:49374347_49374348insG	X03072	CCDS8776.1	12q13	2013-02-28				ENSG00000125084		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12774	protein-coding gene	gene with protein product		164820		INT1		2998762, 3281802	Standard	NM_005430		Approved		uc001rsu.3	P04628	OTTHUMG00000170403	ENST00000293549.3:c.506dupG	12.37:g.49374354_49374354dupG	ENSP00000293549:p.Trp167fs						p.W167fs	NM_005430	NP_005421	P04628	WNT1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.244)	2	697_698	+			167					Q5U0N2	Frame_Shift_Ins	INS	ENST00000293549.3	37	c.499_500insG	CCDS8776.1																																																																																				0.683	WNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408937.1		
PA2G4	5036	broad.mit.edu	37	12	56505022	56505022	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:56505022C>T	ENST00000303305.6	+	11	1413	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	332	Necessary for nucleolar localization.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGCCCCATGCGGATAACCAG	0.438																																						uc001sjm.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(994-996)Cgg>Tgg		Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.							94.0	90.0	91.0					12																	56505022		2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56505022C>T	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.994C>T	12.37:g.56505022C>T	ENSP00000302886:p.Arg332Trp						p.R332W	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		10	1413	+			332			Necessary for nucleolar localization.		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.994C>T	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785300	0.49997	.	.	ENSG00000170515	ENST00000303305;ENST00000417031;ENST00000546435	.	.	.	5.95	4.08	0.47627	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	L	0.55017	1.72	0.80722	D	1	B;B	0.29955	0.263;0.171	B;B	0.25884	0.064;0.019	T	0.56926	-0.7898	9	0.66056	D	0.02	.	13.4675	0.61263	0.5616:0.4384:0.0:0.0	.	332;332	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	W	332;361;332	.	ENSP00000302886:R332W	R	+	1	2	PA2G4	54791289	0.911000	0.30947	1.000000	0.80357	0.992000	0.81027	0.011000	0.13264	0.790000	0.33803	-0.169000	0.13324	CGG		0.438	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191	
GRIP1	23426	broad.mit.edu	37	12	66788078	66788078	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:66788078C>T	ENST00000398016.3	-	16	1951	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	GRIP1_ENST00000359742.4_Missense_Mutation_p.G680E|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000286445.7_Missense_Mutation_p.G680E	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAGGGGCCCCCCGTAGCGTTT	0.413																																						uc001stk.3																			0				NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50						c.(1882-1884)gGg>gAg		Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.							92.0	89.0	90.0					12																	66788078		1813	4077	5890	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66788078C>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1883G>A	12.37:g.66788078C>T	ENSP00000381098:p.Gly628Glu					GRIP1_uc010sta.1_Missense_Mutation_p.G572E|GRIP1_uc001stj.3_Missense_Mutation_p.G410E|GRIP1_uc001stm.3_Missense_Mutation_p.G628E|GRIP1_uc001stl.1_Missense_Mutation_p.G520E	p.G628E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	15	2124	-			680			PDZ 5.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.1883G>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.431555|4.431555	0.83776|0.83776	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215|ENST00000538164	T;T;T;T;T;T|T	0.27557|0.26518	1.66;1.66;1.66;1.66;1.66;1.66|1.73	4.2|4.2	4.2|4.2	0.49525|0.49525	PDZ/DHR/GLGF (3);|.	0.048584|0.048584	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.44829|0.44829	0.1312|0.1312	M|M	0.66560|0.66560	2.04|2.04	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.89917|.	0.979;0.558;1.0;1.0|.	P;B;D;D|.	0.97110|.	0.84;0.407;0.998;1.0|.	T|T	0.30268|0.30268	-0.9984|-0.9984	9|7	.|.	.|.	.|.	-18.3968|-18.3968	17.8456|17.8456	0.88729|0.88729	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	628;680;628;680|.	F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2|.	.;GRIP1_HUMAN;.;.|.	E|R	628;680;680;628;572;520|495	ENSP00000381098:G628E;ENSP00000352780:G680E;ENSP00000286445:G680E;ENSP00000446047:G628E;ENSP00000446024:G572E;ENSP00000446011:G520E|ENSP00000439053:G495R	.|.	G|G	-|-	2|1	0|0	GRIP1|GRIP1	65074345|65074345	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.945000|0.945000	0.59286|0.59286	5.877000|5.877000	0.69675|0.69675	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.413	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
COL4A1	1282	broad.mit.edu	37	13	110819539	110819539	+	Silent	SNP	A	A	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr13:110819539A>C	ENST00000375820.4	-	44	4036	c.3915T>G	c.(3913-3915)ggT>ggG	p.G1305G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1305	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCCCATATCACCCTTAGAGC	0.507																																						uc001vqw.4																			0		p.K1304K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3913-3915)ggT>ggG		Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.							181.0	171.0	174.0					13																	110819539		2203	4300	6503	SO:0001819	synonymous_variant	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110819539A>C	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3915T>G	13.37:g.110819539A>C							p.G1305G	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		43	4037	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1305			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	ENST00000375820.4	37	c.3915T>G	CCDS9511.1																																																																																				0.507	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
AHNAK2	113146	broad.mit.edu	37	14	105409917	105409917	+	Silent	SNP	G	G	A	rs375246824	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr14:105409917G>A	ENST00000333244.5	-	7	11990	c.11871C>T	c.(11869-11871)gcC>gcT	p.A3957A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3957						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCCTTGTCGGCCAGGGACA	0.622													.|||	2	0.000399361	0.0	0.0	5008	,	,		19535	0.0		0.002	False		,,,				2504	0.0					uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(11869-11871)gcC>gcT		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.		A		1,3973		0,1,1986	200.0	198.0	199.0		11871	-7.8	0.0	14		199	4,8314		0,4,4155	no	coding-synonymous	AHNAK2	NM_138420.2		0,5,6141	AA,AG,GG		0.0481,0.0252,0.0407		3957/5796	105409917	5,12287	1987	4159	6146	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409917G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11871C>T	14.37:g.105409917G>A						AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A3857A	p.A3957A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	11991	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3957					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11871C>T	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						uc010ujf.2																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)ctgdel		Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_uc010ujd.1_In_Frame_Del_p.L591del|SLC24A1_uc010uje.1_In_Frame_Del_p.L591del|SLC24A1_uc010ujg.2_In_Frame_Del_p.L591del|SLC24A1_uc010ujh.2_In_Frame_Del_p.L591del	p.L591del	NM_004727	NP_004718	O60721	NCKX1_HUMAN			1	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727	
LOC645752	645752	broad.mit.edu	37	15	78207541	78207541	+	lincRNA	SNP	T	T	G	rs56259215		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr15:78207541T>G	ENST00000565869.1	+	0	0				RN7SL214P_ENST00000487317.2_RNA																							TGTCCTGCATTACAGGAGACA	0.567																																						uc010bky.2																			0											c.(1369-1371)gtA>gtC		Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																																						645752							g.chr15:78207541T>G																													15.37:g.78207541T>G						LOC645752_uc010umq.1_Silent_p.V104V|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank	p.V457V							17	2135	-									Silent	SNP	ENST00000565869.1	37	c.1371A>C																																																																																					0.567	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1		
LRRK1	79705	broad.mit.edu	37	15	101464858	101464859	+	Frame_Shift_Ins	INS	-	-	C	rs373263143		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr15:101464858_101464859insC	ENST00000388948.3	+	2	380_381	c.21_22insC	c.(22-24)cccfs	p.P8fs	LRRK1_ENST00000532029.2_Frame_Shift_Ins_p.P8fs|LRRK1_ENST00000284395.5_5'UTR	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCGCAAAGACCCCCCAGCAT	0.594																																						uc002bwr.3																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(19-24)agacccfs		Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.																																				SO:0001589	frameshift_variant	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101464858_101464859insC	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.27dupC	15.37:g.101464864_101464864dupC	ENSP00000373600:p.Pro8fs					LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Frame_Shift_Ins_p.R7fs	p.R7fs	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		1	340_341	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		7						Frame_Shift_Ins	INS	ENST00000388948.3	37	c.21_22insC	CCDS42086.1																																																																																				0.594	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
AXIN1	8312	broad.mit.edu	37	16	347056	347056	+	Splice_Site	SNP	C	C	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:347056C>G	ENST00000262320.3	-	7	2326	c.1955G>C	c.(1954-1956)gGg>gCg	p.G652A	AXIN1_ENST00000354866.3_Splice_Site_p.G652A|AXIN1_ENST00000481769.1_5'Flank	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	652	Interaction with PPP2CA.|Interaction with RNF111.				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)			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)				GGGTGCTCACCCGTGGCCGGT	0.627																																						uc002cgp.2																			0				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						c.e7+1		Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.							113.0	103.0	107.0					16																	347056		2203	4300	6503	SO:0001630	splice_region_variant	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.chr16:347056C>G	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.1955+1G>C	16.37:g.347056C>G						LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Splice_Site_p.G652_splice	p.G652_splice	NM_003502	NP_003493	O15169	AXIN1_HUMAN			7	2344	-		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)	652			Interaction with PPP2CA.|Interaction with RNF111.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation	SNP	ENST00000262320.3	37	c.1955_splice	CCDS10405.1	.	.	.	.	.	.	.	.	.	.	C	8.858	0.946253	0.18356	.	.	ENSG00000103126	ENST00000262320;ENST00000354866	T;T	0.59906	0.23;0.25	4.98	4.98	0.66077	.	0.138764	0.64402	D	0.000003	T	0.60248	0.2254	L	0.51422	1.61	0.58432	D	0.999995	P;P	0.41673	0.759;0.646	P;B	0.45712	0.491;0.296	T	0.59043	-0.7528	9	.	.	.	-21.9959	18.2287	0.89927	0.0:1.0:0.0:0.0	.	652;652	O15169-2;O15169	.;AXIN1_HUMAN	A	652	ENSP00000262320:G652A;ENSP00000346935:G652A	.	G	-	2	0	AXIN1	287057	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	5.503000	0.66962	2.317000	0.78254	0.478000	0.44815	GGG		0.627	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		Missense_Mutation
ERCC4	2072	broad.mit.edu	37	16	14041971	14041971	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:14041971G>A	ENST00000311895.7	+	11	2527	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	840	HhH2, dimerization with ERCC1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCCTTCCCGAGTCAGAGAA	0.498			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""Mis, N, F"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						c.(2518-2520)Gag>Aag	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.							47.0	47.0	47.0					16																	14041971		2197	4300	6497	SO:0001583	missense	2072	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14041971G>A	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.2518G>A	16.37:g.14041971G>A	ENSP00000310520:p.Glu840Lys					ERCC4_uc010uyz.1_Missense_Mutation_p.E390K	p.E840K	NM_005236	NP_005227	Q92889	XPF_HUMAN			10	2527	+			840			Interaction with EME1 and ERCC1.		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.2518G>A	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124226	0.77436	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.18810	2.19	6.16	6.16	0.99307	RuvA domain 2-like (1);	0.046217	0.85682	D	0.000000	T	0.25158	0.0611	M	0.80422	2.495	0.80722	D	1	P	0.43287	0.802	B	0.28553	0.091	T	0.20338	-1.0278	10	0.19147	T	0.46	-27.5798	19.848	0.96722	0.0:0.0:1.0:0.0	.	840	Q92889	XPF_HUMAN	K	840;828	ENSP00000310520:E840K	ENSP00000310520:E840K	E	+	1	0	ERCC4	13949472	1.000000	0.71417	0.993000	0.49108	0.777000	0.43975	7.369000	0.79578	2.937000	0.99478	0.650000	0.86243	GAG		0.498	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	
PLCG2	5336	broad.mit.edu	37	16	81953271	81953271	+	Splice_Site	SNP	T	T	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:81953271T>A	ENST00000359376.3	+	20	2449		c.e20+2			NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)						B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TACAATATGGTAGGTGGTGGA	0.493																																						uc002fgt.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.e20+2		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.							47.0	51.0	50.0					16																	81953271		1939	4117	6056	SO:0001630	splice_region_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81953271T>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2235+2T>A	16.37:g.81953271T>A						PLCG2_uc010chg.1_Splice_Site_p.M745_splice	p.M745_splice	NM_002661	NP_002652	P16885	PLCG2_HUMAN			20	2413	+			745	M -> T (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815).				D3DUL3|Q3ZTS2|Q59H45|Q969T5	Splice_Site	SNP	ENST00000359376.3	37	c.2235_splice	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317135	0.40996	.	.	ENSG00000197943	ENST00000359376	.	.	.	5.3	3.03	0.35002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.1182	0.14847	0.1392:0.1399:0.0:0.7209	.	.	.	.	.	-1	.	.	.	+	.	.	PLCG2	80510772	1.000000	0.71417	0.485000	0.27403	0.477000	0.33069	3.729000	0.54999	0.825000	0.34637	0.533000	0.62120	.		0.493	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		Intron
ANKRD11	29123	broad.mit.edu	37	16	89347130	89347130	+	Silent	SNP	G	G	A	rs368770538		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:89347130G>A	ENST00000301030.4	-	9	6280	c.5820C>T	c.(5818-5820)agC>agT	p.S1940S	ANKRD11_ENST00000378330.2_Silent_p.S1940S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1940	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGATGACGGCGCTGAAGGGAC	0.692																																						uc002fmx.1																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(5818-5820)agC>agT		Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.		G		0,4318		0,0,2159	25.0	29.0	28.0		5820	-0.9	0.0	16		28	1,8387		0,1,4193	no	coding-synonymous	ANKRD11	NM_013275.4		0,1,6352	AA,AG,GG		0.0119,0.0,0.0079		1940/2664	89347130	1,12705	2159	4194	6353	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89347130G>A	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.5820C>T	16.37:g.89347130G>A						ANKRD11_uc002fmy.1_Silent_p.S1940S|ANKRD11_uc002fnc.1_Silent_p.S1940S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.S1897S	p.S1940S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	8	6281	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1940			Pro-rich.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.5820C>T	CCDS32513.1																																																																																				0.692	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
OR3A2	4995	broad.mit.edu	37	17	3181517	3181517	+	Missense_Mutation	SNP	C	C	T	rs201033738	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr17:3181517C>T	ENST00000408891.2	-	1	751	c.713G>A	c.(712-714)cGt>cAt	p.R238H	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	238					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CTCCACTGAACGGATTCGTAG	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		21653	0.0		0.001	False		,,,				2504	0.001				GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.3																			0				ovary(1)	1						c.(712-714)cGt>cAt		Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.		C	HIS/ARG	2,4404	6.2+/-15.9	0,2,2201	52.0	55.0	54.0		713	-0.7	0.0	17		54	13,8587	10.5+/-38.8	0,13,4287	yes	missense	OR3A2	NM_002551.3	29	0,15,6488	TT,TC,CC		0.1512,0.0454,0.1153	benign	238/322	3181517	15,12991	2203	4300	6503	SO:0001583	missense	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181517C>T	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.713G>A	17.37:g.3181517C>T	ENSP00000386180:p.Arg238His						p.R238H	NM_002551	NP_002542	P47893	OR3A2_HUMAN			0	752	-			238					Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	ENST00000408891.2	37	c.713G>A	CCDS42233.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.298	-0.360768	0.05103	4.54E-4	0.001512	ENSG00000221882	ENST00000408891	T	0.39229	1.09	4.9	-0.715	0.11215	GPCR, rhodopsin-like superfamily (1);	0.493501	0.17156	N	0.184862	T	0.23688	0.0573	N	0.25060	0.705	0.09310	N	1	B	0.19935	0.04	B	0.25884	0.064	T	0.16364	-1.0405	10	0.28530	T	0.3	-1.1732	5.8402	0.18629	0.0:0.3797:0.3232:0.2971	.	238	P47893	OR3A2_HUMAN	H	238	ENSP00000386180:R238H	ENSP00000386180:R238H	R	-	2	0	OR3A2	3128267	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.287000	0.02785	-0.116000	0.11893	-1.066000	0.02275	CGT		0.527	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1		
C19orf35	374872	broad.mit.edu	37	19	2278840	2278840	+	Missense_Mutation	SNP	C	C	T	rs201167235		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:2278840C>T	ENST00000342063.3	-	3	448	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	119										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGTGGGGCGTCAGCCGGG	0.677																																						uc002lvn.2																			0				large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8						c.(355-357)Gcc>Acc		Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.		C	THR/ALA	0,4364		0,0,2182	9.0	10.0	10.0		355	-5.7	0.0	19		10	2,8556		0,2,4277	no	missense	C19orf35	NM_198532.2	58	0,2,6459	TT,TC,CC		0.0234,0.0,0.0155	benign	119/474	2278840	2,12920	2182	4279	6461	SO:0001583	missense	374872							g.chr19:2278840C>T	AK127680	CCDS12087.1	19p13.3	2012-10-26			ENSG00000188305	ENSG00000188305			24793	protein-coding gene	gene with protein product							Standard	NM_198532		Approved	FLJ45778	uc002lvn.2	Q6ZS72	OTTHUMG00000178460	ENST00000342063.3:c.355G>A	19.37:g.2278840C>T	ENSP00000345102:p.Ala119Thr					SPPL2B_uc010dsw.1_Intron	p.A119T	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	455	-			119						Missense_Mutation	SNP	ENST00000342063.3	37	c.355G>A	CCDS12087.1	.	.	.	.	.	.	.	.	.	.	C	1.651	-0.514073	0.04200	0.0	2.34E-4	ENSG00000188305	ENST00000342063	T	0.14266	2.52	4.18	-5.7	0.02421	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.43556	-0.9384	9	0.10902	T	0.67	.	1.3575	0.02185	0.1288:0.338:0.2335:0.2997	.	119	Q6ZS72	CS035_HUMAN	T	119	ENSP00000345102:A119T	ENSP00000345102:A119T	A	-	1	0	C19orf35	2229840	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.487000	0.06505	-0.466000	0.06943	0.456000	0.33151	GCC		0.677	C19orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442080.1	NM_198532	
TNFSF9	8744	broad.mit.edu	37	19	6535006	6535006	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:6535006G>A	ENST00000245817.3	+	3	732	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	232					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TACCCAGGGCGCCACAGTCTT	0.662																																						uc002mfh.2																			0		p.G231G(2)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(694-696)Gcc>Acc		Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.							17.0	19.0	18.0					19																	6535006		2203	4292	6495	SO:0001583	missense	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6535006G>A	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.694G>A	19.37:g.6535006G>A	ENSP00000245817:p.Ala232Thr						p.A232T	NM_003811	NP_003802	P41273	TNFL9_HUMAN			2	732	+			232					Q2M3S2	Missense_Mutation	SNP	ENST00000245817.3	37	c.694G>A	CCDS12169.1	.	.	.	.	.	.	.	.	.	.	g	14.81	2.647015	0.47258	.	.	ENSG00000125657	ENST00000245817	D	0.94613	-3.47	4.37	3.33	0.38152	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.308394	0.23035	N	0.052690	D	0.88636	0.6490	L	0.28115	0.83	0.20196	N	0.999927	D	0.63880	0.993	P	0.47827	0.558	T	0.80834	-0.1205	10	0.05833	T	0.94	.	8.2125	0.31492	0.1139:0.0:0.8861:0.0	.	232	P41273	TNFL9_HUMAN	T	232	ENSP00000245817:A232T	ENSP00000245817:A232T	A	+	1	0	TNFSF9	6486006	0.065000	0.20965	0.140000	0.22221	0.026000	0.11368	0.133000	0.15912	0.956000	0.37904	0.537000	0.68136	GCC		0.662	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811	
TNPO2	30000	broad.mit.edu	37	19	12813636	12813636	+	Splice_Site	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:12813636C>T	ENST00000592287.1	-	20	2414		c.e20+1		TNPO2_ENST00000441499.1_Splice_Site|TNPO2_ENST00000588216.1_Splice_Site|TNPO2_ENST00000356861.5_Splice_Site|TNPO2_ENST00000425528.1_Splice_Site|TNPO2_ENST00000450764.2_Splice_Site	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2						intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTGCCCACCTGTGTTTTC	0.582																																						uc002mup.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.e19+1		Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.							201.0	216.0	211.0					19																	12813636		2021	4185	6206	SO:0001630	splice_region_variant	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12813636C>T	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2305+1G>A	19.37:g.12813636C>T						TNPO2_uc002muq.3_Splice_Site_p.A769_splice|TNPO2_uc002muo.3_Splice_Site_p.G769_splice|TNPO2_uc002mur.3_Splice_Site_p.A769_splice	p.A861_splice	NM_013433	NP_038461	O14787	TNPO2_HUMAN			19	3043	-			779					O14655|Q6IN77	Splice_Site	SNP	ENST00000592287.1	37	c.2581_splice	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	C	33	5.204098	0.95033	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6365	0.91380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TNPO2	12674636	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.432000	0.80349	2.685000	0.91497	0.655000	0.94253	.		0.582	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433	Intron
KIR3DL1	3811	broad.mit.edu	37	19	55327961	55327961	+	Silent	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:55327961G>A	ENST00000391728.4	+	1	39	c.6G>A	c.(4-6)tcG>tcA	p.S2S	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000326542.7_Silent_p.S2S|KIR3DL1_ENST00000358178.4_Silent_p.S2S|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	2			S -> L (in dbSNP:rs605219).		immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GCACCATGTCGCTCATGGTCG	0.597											OREG0003676	type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002qhl.4																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23						c.(4-6)tcG>tcA		Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.							30.0	38.0	36.0					19																	55327961		1107	3275	4382	SO:0001819	synonymous_variant	3811				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	g.chr19:55327961G>A	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.6G>A	19.37:g.55327961G>A			OREG0003676	type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1007	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc010esf.3_Silent_p.S2S|KIR3DL2_uc021vbo.1_Silent_p.S2S|KIR3DL2_uc002qhk.4_Silent_p.S2S	p.S2S			P43630	KI3L2_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	0	69	+			2					O43473|Q14946|Q16541	Silent	SNP	ENST00000391728.4	37	c.6G>A	CCDS42621.1																																																																																				0.597	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2																			10	Substitution - Missense(10)	p.D404E(20)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		Homo sapiens zinc finger protein 814 (ZNF814), mRNA.							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			2	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
EPAS1	2034	broad.mit.edu	37	2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A	rs376653305		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:46608818G>A	ENST00000263734.3	+	13	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	710					angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)	p.R710Q(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617																																						uc002ruv.3																			2	Substitution - Missense(2)	p.R710Q(4)|p.R710*(1)	lung(2)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2128-2130)cGa>cAa		Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.		G	GLN/ARG	0,4406		0,0,2203	47.0	46.0	46.0		2129	4.9	1.0	2		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPAS1	NM_001430.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	710/871	46608818	1,13005	2203	4300	6503	SO:0001583	missense	2034				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	g.chr2:46608818G>A	U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2129G>A	2.37:g.46608818G>A	ENSP00000263734:p.Arg710Gln					EPAS1_uc002ruw.3_Missense_Mutation_p.R176Q	p.R710Q	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.151)		12	2639	+		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	710					Q86VA2|Q99630	Missense_Mutation	SNP	ENST00000263734.3	37	c.2129G>A	CCDS1825.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.013424	0.93346	0.0	1.16E-4	ENSG00000116016	ENST00000263734	T	0.55930	0.49	4.87	4.87	0.63330	.	0.769625	0.12075	N	0.501828	T	0.70090	0.3184	L	0.52905	1.665	0.36146	D	0.847128	D	0.89917	1.0	D	0.83275	0.996	T	0.74544	-0.3630	10	0.87932	D	0	.	16.202	0.82088	0.0:0.0:1.0:0.0	.	710	Q99814	EPAS1_HUMAN	Q	710	ENSP00000263734:R710Q	ENSP00000263734:R710Q	R	+	2	0	EPAS1	46462322	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.423000	0.73361	2.244000	0.73946	0.563000	0.77884	CGA		0.617	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250752.2	NM_001430	
GKN1	56287	broad.mit.edu	37	2	69207132	69207132	+	Missense_Mutation	SNP	G	G	A	rs145566771		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:69207132G>A	ENST00000377938.2	+	5	508	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	149	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)				breast(2)|large_intestine(4)|lung(5)	11						GAGCAAGTTCGGAAAAAACAT	0.507																																						uc002sfc.3																			0				breast(2)|large_intestine(4)|lung(5)	11						c.(445-447)Gga>Aga		Homo sapiens gastrokine 1 (GKN1), mRNA.		G	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	167.0	121.0	137.0		445	5.3	0.4	2	dbSNP_134	137	0,8600		0,0,4300	no	missense	GKN1	NM_019617.3	125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	149/200	69207132	1,13005	2203	4300	6503	SO:0001583	missense	56287				digestion|positive regulation of cell division	extracellular region		g.chr2:69207132G>A	AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"""BRICHOS domain containing"""	23217	protein-coding gene	gene with protein product	"""BRICHOS domain containing 1"""	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.445G>A	2.37:g.69207132G>A	ENSP00000367172:p.Gly149Arg						p.G149R	NM_019617	NP_062563	Q9NS71	GKN1_HUMAN			4	508	+			149			BRICHOS.		Q8IUA9	Missense_Mutation	SNP	ENST00000377938.2	37	c.445G>A	CCDS1891.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545205	0.86022	2.27E-4	0.0	ENSG00000169605	ENST00000377938	D	0.84298	-1.83	5.35	5.35	0.76521	BRICHOS (2);	0.000000	0.64402	D	0.000001	D	0.92763	0.7699	M	0.82323	2.585	0.43593	D	0.995944	D	0.89917	1.0	D	0.97110	1.0	D	0.93339	0.6708	10	0.87932	D	0	-21.7664	16.657	0.85231	0.0:0.0:1.0:0.0	.	149	Q9NS71	GKN1_HUMAN	R	149	ENSP00000367172:G149R	ENSP00000367172:G149R	G	+	1	0	GKN1	69060636	1.000000	0.71417	0.445000	0.26908	0.243000	0.25628	5.327000	0.65881	2.797000	0.96272	0.650000	0.86243	GGA		0.507	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617	
MAP3K19	80122	broad.mit.edu	37	2	135745418	135745418	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:135745418G>A	ENST00000375845.3	-	7	1054	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P359S|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P229S	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	342							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTAACTGCAGGAATATTGCCT	0.368																																						uc002tue.1																			0				breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1024-1026)Cct>Tct		Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.							61.0	61.0	61.0					2																	135745418		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135745418G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1024C>T	2.37:g.135745418G>A	ENSP00000365005:p.Pro342Ser					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P229S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.P70S|YSK4_uc002tui.4_Missense_Mutation_p.P359S	p.P342S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	6	1055	-			342					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1024C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	2.764	-0.257243	0.05791	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.70749	-0.51;-0.48;1.85	4.67	1.76	0.24704	.	0.394186	0.18696	N	0.133738	T	0.55114	0.1900	L	0.46157	1.445	0.18873	N	0.999983	B;B;B	0.33318	0.035;0.408;0.057	B;B;B	0.28784	0.027;0.094;0.012	T	0.53422	-0.8441	10	0.72032	D	0.01	.	3.5629	0.07889	0.203:0.0:0.4946:0.3024	.	229;359;342	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	S	342;229;359	ENSP00000365005:P342S;ENSP00000351140:P229S;ENSP00000376647:P359S	ENSP00000351140:P229S	P	-	1	0	YSK4	135461888	0.000000	0.05858	0.058000	0.19502	0.007000	0.05969	0.188000	0.17018	1.181000	0.42912	0.637000	0.83480	CCT		0.368	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
RAPGEF4	11069	broad.mit.edu	37	2	173866027	173866027	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:173866027G>C	ENST00000397081.3	+	17	1756	c.1613G>C	c.(1612-1614)tGt>tCt	p.C538S	RAPGEF4_ENST00000539331.1_Missense_Mutation_p.C385S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.C367S|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.C537S|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.C538S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.C394S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.C385S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.C318S	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	538	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGATGCACTGTGTTTTTATG	0.398																																						uc002uhv.4																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1612-1614)tGt>tCt		Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.							188.0	165.0	172.0					2																	173866027		1827	4085	5912	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173866027G>C	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.1613G>C	2.37:g.173866027G>C	ENSP00000380271:p.Cys538Ser					RAPGEF4_uc002uhw.4_Missense_Mutation_p.C394S|RAPGEF4_uc010zec.1_Missense_Mutation_p.C385S|RAPGEF4_uc010zed.1_Missense_Mutation_p.C367S|RAPGEF4_uc010zee.1_Missense_Mutation_p.C385S|RAPGEF4_uc010fqo.2_Missense_Mutation_p.C367S|RAPGEF4_uc010zef.1_Missense_Mutation_p.C318S|RAPGEF4_uc010zeg.1_Missense_Mutation_p.C365S|RAPGEF4_uc010zeh.1_Missense_Mutation_p.C318S	p.C538S	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		16	1800	+			538			N-terminal Ras-GEF.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.1613G>C	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260427	0.23051	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.87	5.87	0.94306	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.129132	0.64402	D	0.000001	T	0.18341	0.0440	N	0.08118	0	0.80722	D	1	B;P;B;B	0.40619	0.015;0.724;0.003;0.002	B;B;B;B	0.36885	0.035;0.235;0.01;0.001	T	0.06899	-1.0801	10	0.15066	T	0.55	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	365;367;394;538	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2	.;.;.;RPGF4_HUMAN	S	537;538;538;394;367;385;385;365;318	ENSP00000264111:C537S;ENSP00000380271:C538S;ENSP00000387104:C538S;ENSP00000380276:C394S;ENSP00000440135:C367S;ENSP00000440250:C385S;ENSP00000437384:C385S;ENSP00000438011:C318S	ENSP00000264111:C537S	C	+	2	0	RAPGEF4	173574273	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.602000	0.74141	2.941000	0.99782	0.655000	0.94253	TGT		0.398	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
HCK	3055	broad.mit.edu	37	20	30674579	30674579	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr20:30674579C>T	ENST00000520553.1	+	9	1167	c.921C>T	c.(919-921)ccC>ccT	p.P307P	HCK_ENST00000375852.2_Silent_p.P328P|HCK_ENST00000518730.1_Silent_p.P306P|HCK_ENST00000375862.2_Silent_p.P327P|HCK_ENST00000538448.1_Silent_p.P307P|HCK_ENST00000534862.1_Silent_p.P308P	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCAAGGAGCCCATCTACATCA	0.587																																						uc002wxh.3																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(982-984)ccC>ccT		Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.							136.0	99.0	112.0					20																	30674579		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30674579C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.921C>T	20.37:g.30674579C>T						HCK_uc010gdy.3_Silent_p.P308P|HCK_uc021wbv.1_Silent_p.P307P|HCK_uc002wxi.3_Silent_p.P306P	p.P328P	NM_001172133	NP_001165604	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		8	1221	+			328			Protein kinase.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.984C>T	CCDS54455.1																																																																																				0.587	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		
BPIFA1	51297	broad.mit.edu	37	20	31829275	31829275	+	Splice_Site	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr20:31829275C>T	ENST00000354297.4	+	6	737	c.666C>T	c.(664-666)aaC>aaT	p.N222N	BPIFA1_ENST00000375422.2_Splice_Site_p.N222N|BPIFA1_ENST00000375413.4_Splice_Site_p.N222N	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	222					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										TTCAGGGCAACGTAAGTAGGC	0.502																																						uc002wyt.4																			0											c.e6+1		Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.							154.0	148.0	150.0					20																	31829275		2203	4300	6503	SO:0001630	splice_region_variant	51297				innate immune response	extracellular region	lipid binding	g.chr20:31829275C>T	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.666+1C>T	20.37:g.31829275C>T						BPIFA1_uc002wyu.4_Splice_Site_p.N222_splice|BPIFA1_uc002wyv.3_Splice_Site_p.N222_splice	p.N222_splice	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN			6	736	+			222					A8K9R3|E1P5M9|Q9NZT0	Silent	SNP	ENST00000354297.4	37	c.666_splice	CCDS13217.1																																																																																				0.502	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852	Silent
DUSP18	150290	broad.mit.edu	37	22	31059768	31059768	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:31059768G>A	ENST00000334679.3	-	2	728	c.223C>T	c.(223-225)Cct>Tct	p.P75S	DUSP18_ENST00000403268.1_Intron|DUSP18_ENST00000407308.1_Missense_Mutation_p.P75S|DUSP18_ENST00000404885.1_Missense_Mutation_p.P75S|DUSP18_ENST00000461301.1_Intron	NM_152511.3	NP_689724.3	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	75					peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CGTGAGTTAGGGGAGTCAGCC	0.507																																						uc003aiu.3																			0				large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						c.(223-225)Cct>Tct		Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA.							265.0	196.0	220.0					22																	31059768		2203	4300	6503	SO:0001583	missense	150290					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:31059768G>A	AF461689	CCDS13883.1	22q12.1	2011-06-09				ENSG00000167065		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18484	protein-coding gene	gene with protein product		611446				12408986	Standard	NM_152511		Approved	DUSP20	uc003aiw.1	Q8NEJ0		ENST00000334679.3:c.223C>T	22.37:g.31059768G>A	ENSP00000333917:p.Pro75Ser					SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Intron|DUSP18_uc003aiw.1_Missense_Mutation_p.P75S|DUSP18_uc021wnv.1_Missense_Mutation_p.P75S	p.P75S	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN			1	724	-			75					B3KPA4	Missense_Mutation	SNP	ENST00000334679.3	37	c.223C>T	CCDS13883.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115968	0.56505	.	.	ENSG00000167065	ENST00000404885;ENST00000407308;ENST00000334679;ENST00000342474	D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94	5.19	5.19	0.71726	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.91402	0.7287	M	0.75447	2.3	0.80722	D	1	D	0.63880	0.993	D	0.67548	0.952	D	0.89610	0.3841	10	0.27785	T	0.31	.	18.3277	0.90260	0.0:0.0:1.0:0.0	.	75	Q8NEJ0	DUS18_HUMAN	S	75	ENSP00000385463:P75S;ENSP00000386063:P75S;ENSP00000333917:P75S;ENSP00000340795:P75S	ENSP00000333917:P75S	P	-	1	0	DUSP18	29389768	1.000000	0.71417	0.138000	0.22173	0.002000	0.02628	4.595000	0.61048	2.431000	0.82371	0.655000	0.94253	CCT		0.507	DUSP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321400.1		
CYP2D6	1565	broad.mit.edu	37	22	42525154	42525154	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:42525154C>T	ENST00000360608.5	-	3	500	c.386G>A	c.(385-387)cGc>cAc	p.R129H	NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.R129H|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	129					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCTCTGCTCGCGCCACGCGGG	0.687																																						uc003bce.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(385-387)cGc>cAc		Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.							21.0	25.0	24.0					22																	42525154		2017	4168	6185	SO:0001583	missense	1565						electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	g.chr22:42525154C>T	M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.386G>A	22.37:g.42525154C>T	ENSP00000353820:p.Arg129His					LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Intron|CYP2D6_uc003bcf.3_Intron	p.R129H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN			2	476	-			129					Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	c.386G>A	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	c	13.05	2.121684	0.37436	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.71341	-0.56;-0.56	4.18	3.15	0.36227	.	0.425089	0.18928	N	0.127293	D	0.82416	0.5032	M	0.88775	2.98	0.25889	N	0.983498	D	0.69078	0.997	D	0.64042	0.921	T	0.73142	-0.4076	10	0.87932	D	0	.	7.126	0.25471	0.0:0.7836:0.0:0.2164	.	129	Q6NWU0	.	H	129;129;78	ENSP00000353820:R129H;ENSP00000374620:R129H	ENSP00000353820:R129H	R	-	2	0	CYP2D6	40855098	0.082000	0.21442	0.702000	0.30337	0.041000	0.13682	0.372000	0.20467	1.058000	0.40530	0.305000	0.20034	CGC		0.687	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
MOV10L1	54456	broad.mit.edu	37	22	50581577	50581577	+	Missense_Mutation	SNP	G	G	A	rs140536899		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:50581577G>A	ENST00000262794.5	+	17	2368	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	MOV10L1_ENST00000395858.3_Missense_Mutation_p.R762H|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Missense_Mutation_p.R742H|MOV10L1_ENST00000545383.1_Missense_Mutation_p.R762H	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10 RISC complex RNA helicase like 1	762					ATP catabolic process (GO:0006200)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|magnesium ion binding (GO:0000287)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGTGACTGCCGTCCCCTCCCG	0.468																																						uc003bjj.3																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67						c.(2284-2286)cGt>cAt		Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	132.0	139.0	136.0		2285,2225,2285	5.6	1.0	22	dbSNP_134	136	0,8600		0,0,4300	no	missense,missense,missense	MOV10L1	NM_001164104.1,NM_001164105.1,NM_018995.2	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	762/1166,742/1166,762/1212	50581577	1,13005	2203	4300	6503	SO:0001583	missense	54456				germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding	g.chr22:50581577G>A	AF285604	CCDS14084.1, CCDS54541.1, CCDS54542.1, CCDS54543.1	22q13.33	2014-07-02	2014-07-02		ENSG00000073146	ENSG00000073146			7201	protein-coding gene	gene with protein product	"""cardiac helicase activated by MEF2C protein"""	605794	"""Mov10 (mouse)-like 1"", ""Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)"""			11279525	Standard	NM_018995		Approved	DJ402G11.8, DKFZp434B0717, CHAMP	uc003bjj.3	Q9BXT6	OTTHUMG00000044648	ENST00000262794.5:c.2285G>A	22.37:g.50581577G>A	ENSP00000262794:p.Arg762His					MOV10L1_uc003bjk.4_Missense_Mutation_p.R762H|MOV10L1_uc011arp.2_Missense_Mutation_p.R742H|MOV10L1_uc011arq.1_Missense_Mutation_p.R523H	p.R762H	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)	16	2368	+		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)	762					A7E211|A8MXC6|B7WPP1|B7Z7R1|F5H403|Q5TGD5|Q8NBD4|Q9NXW3|Q9UFB3|Q9UGX9	Missense_Mutation	SNP	ENST00000262794.5	37	c.2285G>A	CCDS14084.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252396	0.80135	2.27E-4	0.0	ENSG00000073146	ENST00000545383;ENST00000262794;ENST00000395858;ENST00000540615	D;D;D;D	0.86956	-2.01;-2.01;-1.61;-2.19	5.61	5.61	0.85477	.	0.049309	0.85682	D	0.000000	D	0.93096	0.7802	M	0.68728	2.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.93039	0.6455	10	0.62326	D	0.03	-19.6794	19.6476	0.95789	0.0:0.0:1.0:0.0	.	523;742;762;762	B7Z893;F5H403;A8MXC6;Q9BXT6	.;.;.;M10L1_HUMAN	H	762;762;762;742	ENSP00000438978:R762H;ENSP00000262794:R762H;ENSP00000379199:R762H;ENSP00000438542:R742H	ENSP00000262794:R762H	R	+	2	0	MOV10L1	48923704	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	7.388000	0.79795	2.647000	0.89833	0.655000	0.94253	CGT		0.468	MOV10L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075009.2	NM_018995	
GRIP2	80852	broad.mit.edu	37	3	14555293	14555293	+	RNA	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:14555293G>A	ENST00000273083.3	-	0	1583							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GACAGGACACGGTCCCCCACC	0.647																																						uc021wtn.1																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						c.(1807-1809)Cgt>Tgt		Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.							30.0	36.0	34.0					3																	14555293		2056	4198	6254			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14555293G>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14555293G>A						GRIP2_uc010heh.3_Non-coding_Transcript	p.R603C	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			14	1807	-			507			PDZ 5.		Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.1807C>T																																																																																					0.647	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423	
SCN5A	6331	broad.mit.edu	37	3	38645338	38645338	+	Silent	SNP	G	G	A	rs201024847	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:38645338G>A	ENST00000333535.4	-	12	1904	c.1755C>T	c.(1753-1755)caC>caT	p.H585H	SCN5A_ENST00000425664.1_Silent_p.H585H|SCN5A_ENST00000450102.2_Silent_p.H585H|SCN5A_ENST00000443581.1_Silent_p.H585H|SCN5A_ENST00000414099.2_Silent_p.H585H|SCN5A_ENST00000455624.2_Silent_p.H585H|SCN5A_ENST00000451551.2_Silent_p.H585H|SCN5A_ENST00000413689.1_Silent_p.H585H|SCN5A_ENST00000423572.2_Silent_p.H585H|SCN5A_ENST00000449557.2_Silent_p.H585H			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	585					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CATGGAGGGCGTGGCCAGGAG	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		15611	0.002		0.0	False		,,,				2504	0.0					uc021wvo.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(1753-1755)caC>caT		Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						77.0	83.0	81.0					3																	38645338		2011	4173	6184	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38645338G>A	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1755C>T	3.37:g.38645338G>A						SCN5A_uc021wvk.1_Silent_p.H585H|SCN5A_uc021wvl.1_Silent_p.H585H|SCN5A_uc021wvm.1_Silent_p.H585H|SCN5A_uc021wvn.1_Silent_p.H585H|SCN5A_uc021wvp.1_Silent_p.H585H|SCN5A_uc021wvq.1_Silent_p.H585H|SCN5A_uc021wvr.1_Silent_p.H585H|SCN5A_uc021wvs.1_Silent_p.H585H|SCN5A_uc021wvt.1_Silent_p.H585H|SCN5A_uc021wvu.1_Silent_p.H585H|SCN5A_uc021wvv.1_Silent_p.H585H|SCN5A_uc021wvj.1_Silent_p.H451H|SCN5A_uc021wvi.1_Silent_p.H451H|SCN5A_uc021wvw.1_Silent_p.H196H	p.H585H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	10	1807	-	Medulloblastoma(35;0.163)		585					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.1755C>T	CCDS46796.1																																																																																				0.662	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
CADPS	8618	broad.mit.edu	37	3	62423805	62423805	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:62423805C>T	ENST00000383710.4	-	28	4100	c.3751G>A	c.(3751-3753)Gag>Aag	p.E1251K	CADPS_ENST00000357948.3_Missense_Mutation_p.E1172K|CADPS_ENST00000283269.9_Missense_Mutation_p.E1212K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1251	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGTACATCTCCTCATTGACC	0.458																																						uc003dll.2																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92						c.(3751-3753)Gag>Aag		Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.							96.0	90.0	92.0					3																	62423805		2203	4300	6503	SO:0001583	missense	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62423805C>T	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3751G>A	3.37:g.62423805C>T	ENSP00000373215:p.Glu1251Lys					CADPS_uc003dlj.1_Missense_Mutation_p.E206K|CADPS_uc003dlk.1_Missense_Mutation_p.E699K|CADPS_uc003dlm.2_Missense_Mutation_p.E1212K|CADPS_uc003dln.2_Missense_Mutation_p.E1172K|CADPS_uc021wzv.1_Missense_Mutation_p.E1242K	p.E1251K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	27	4111	-		Lung SC(41;0.0452)	1251			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	c.3751G>A	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.973671|4.973671	0.92919|0.92919	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000466621	T;T;T|.	0.32023|.	1.47;1.47;1.47|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83348|0.83348	0.5235|0.5235	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.998;0.974;0.997;1.0|.	D;D;D;D|.	0.91635|.	0.979;0.969;0.98;0.999|.	D|D	0.84430|0.84430	0.0576|0.0576	10|5	0.87932|.	D|.	0|.	.|.	19.7806|19.7806	0.96414|0.96414	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1172;1212;1251;1256|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	K|E	1257;1251;1172;1212|151	ENSP00000373215:E1251K;ENSP00000350632:E1172K;ENSP00000283269:E1212K|.	ENSP00000283269:E1212K|.	E|G	-|-	1|2	0|0	CADPS|CADPS	62398845|62398845	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.770000|7.770000	0.85390|0.85390	2.668000|2.668000	0.90789|0.90789	0.644000|0.644000	0.83932|0.83932	GAG|GGA		0.458	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
ADCY5	111	broad.mit.edu	37	3	123008753	123008753	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:123008753C>T	ENST00000462833.1	-	19	4588	c.3376G>A	c.(3376-3378)Ggc>Agc	p.G1126S	ADCY5_ENST00000309879.5_Missense_Mutation_p.G776S|ADCY5_ENST00000491190.1_Missense_Mutation_p.G784S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	1126	Guanylate cyclase 2. {ECO:0000255|PROSITE-ProRule:PRU00099}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TAGGTGCTGCCGATGGTCTTG	0.592																																						uc003egh.2																			0				breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(3376-3378)Ggc>Agc		Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.							119.0	101.0	107.0					3																	123008753		2203	4300	6503	SO:0001583	missense	111				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr3:123008753C>T	U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.3376G>A	3.37:g.123008753C>T	ENSP00000419361:p.Gly1126Ser					ADCY5_uc021xdd.1_Missense_Mutation_p.G776S|ADCY5_uc003egg.2_Missense_Mutation_p.G784S	p.G1126S	NM_183357	NP_899200	O95622	ADCY5_HUMAN		GBM - Glioblastoma multiforme(114;0.0342)	18	3376	-			1126			Guanylate cyclase 2.		B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	ENST00000462833.1	37	c.3376G>A	CCDS3022.1	.	.	.	.	.	.	.	.	.	.	C	37	6.061333	0.97246	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879	D;D;D	0.97811	-4.55;-4.55;-4.55	5.13	5.13	0.70059	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.145960	0.44483	D	0.000451	D	0.98723	0.9571	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67103	0.949;0.926	D	0.99278	1.0895	10	0.56958	D	0.05	.	18.7781	0.91920	0.0:1.0:0.0:0.0	.	1126;784	O95622;B3KWA8	ADCY5_HUMAN;.	S	1126;784;776	ENSP00000419361:G1126S;ENSP00000418537:G784S;ENSP00000308685:G776S	ENSP00000308685:G776S	G	-	1	0	ADCY5	124491443	1.000000	0.71417	0.992000	0.48379	0.963000	0.63663	7.646000	0.83445	2.662000	0.90505	0.555000	0.69702	GGC		0.592	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355889.4	XM_171048	
LRPAP1	4043	broad.mit.edu	37	4	3534104	3534104	+	Silent	SNP	C	C	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:3534104C>G	ENST00000500728.2	-	1	182	c.36G>C	c.(34-36)ggG>ggC	p.G12G	LRPAP1_ENST00000296325.5_5'Flank	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	12					extracellular negative regulation of signal transduction (GO:1900116)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of protein binding (GO:0032091)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|protein folding (GO:0006457)|receptor-mediated endocytosis (GO:0006898)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum lumen (GO:0048237)|vesicle (GO:0031982)	asialoglycoprotein receptor activity (GO:0004873)|heparin binding (GO:0008201)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|unfolded protein binding (GO:0051082)|very-low-density lipoprotein particle receptor binding (GO:0070326)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGCCGGGAGCCCGCGCAGAA	0.706																																						uc003ghh.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14						c.(34-36)ggG>ggC		Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.							14.0	15.0	15.0					4																	3534104		2172	4280	6452	SO:0001819	synonymous_variant	4043				negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding	g.chr4:3534104C>G		CCDS3371.1	4p16.3	2008-05-02	2003-03-17		ENSG00000163956	ENSG00000163956			6701	protein-coding gene	gene with protein product		104225	"""low density lipoprotein-related protein-associated protein 1 (alpha-2-macroglobulin receptor-associated protein 1)"""	A2MRAP		1712782	Standard	NM_002337		Approved	HBP44	uc003ghh.4	P30533	OTTHUMG00000090299	ENST00000500728.2:c.36G>C	4.37:g.3534104C>G							p.G12G	NM_002337	NP_002328	P30533	AMRP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.165)	0	121	-			12					D3DVR9|Q2M310|Q53HQ3|Q53HS6	Silent	SNP	ENST00000500728.2	37	c.36G>C	CCDS3371.1																																																																																				0.706	LRPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206659.4		
OTOP1	133060	broad.mit.edu	37	4	4190625	4190625	+	Missense_Mutation	SNP	G	G	T	rs538042112		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:4190625G>T	ENST00000296358.4	-	6	1768	c.1744C>A	c.(1744-1746)Ccc>Acc	p.P582T		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	582					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTATCCAGGGTTCAAAGCCA	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		30954	0.0		0.0	False		,,,				2504	0.0					uc003ghp.1																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1744-1746)Ccc>Acc		Homo sapiens otopetrin 1 (OTOP1), mRNA.							66.0	69.0	68.0					4																	4190625		2203	4300	6503	SO:0001583	missense	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4190625G>T	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1744C>A	4.37:g.4190625G>T	ENSP00000296358:p.Pro582Thr						p.P582T	NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	1774	-			582					A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	c.1744C>A	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	g	13.69	2.313243	0.40895	.	.	ENSG00000163982	ENST00000296358	T	0.23147	1.92	3.59	3.59	0.41128	.	0.289243	0.33327	N	0.005021	T	0.35711	0.0941	N	0.25647	0.755	0.44447	D	0.997373	D	0.76494	0.999	D	0.72075	0.976	T	0.10965	-1.0607	10	0.30854	T	0.27	-11.9822	15.7182	0.77685	0.0:0.0:1.0:0.0	.	582	Q7RTM1	OTOP1_HUMAN	T	582	ENSP00000296358:P582T	ENSP00000296358:P582T	P	-	1	0	OTOP1	4241526	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	4.178000	0.58284	1.998000	0.58463	0.536000	0.68110	CCC		0.463	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
ARHGAP10	79658	broad.mit.edu	37	4	148944421	148944421	+	Missense_Mutation	SNP	G	G	A	rs372199389		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:148944421G>A	ENST00000336498.3	+	19	1963	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.R224Q	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1339					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAGATTTTTCGGACGCCGCCC	0.488																																						uc003ilf.3																			0				autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33						c.(1723-1725)cGg>cAg		Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	75.0	74.0	74.0		1724	5.7	1.0	4		74	0,8600		0,0,4300	no	missense	ARHGAP10	NM_024605.3	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	575/787	148944421	1,13005	2203	4300	6503	SO:0001583	missense	79658				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding	g.chr4:148944421G>A	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1724G>A	4.37:g.148944421G>A	ENSP00000336923:p.Arg575Gln					ARHGAP10_uc003ilg.3_Missense_Mutation_p.R224Q|ARHGAP10_uc003ilh.3_Missense_Mutation_p.R156Q|ARHGAP10_uc003ili.3_Missense_Mutation_p.R8Q	p.R575Q	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN		GBM - Glioblastoma multiforme(119;0.0423)	18	1724	+	all_hematologic(180;0.151)	Renal(17;0.0166)	575					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	c.1724G>A	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.530109	0.27387	2.27E-4	0.0	ENSG00000071205	ENST00000336498;ENST00000414545	T;T	0.21031	2.03;2.03	5.72	5.72	0.89469	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.502419	0.21735	N	0.069902	T	0.29620	0.0739	L	0.29908	0.895	0.39632	D	0.970189	D;B;B;B	0.89917	1.0;0.055;0.059;0.052	D;B;B;B	0.79108	0.992;0.006;0.002;0.003	T	0.03483	-1.1032	10	0.25751	T	0.34	.	8.8572	0.35236	0.1256:0.0:0.8744:0.0	.	8;156;224;575	Q9H7G7;Q86T21;E7EUW5;A1A4S6	.;.;.;RHG10_HUMAN	Q	575;224	ENSP00000336923:R575Q;ENSP00000406624:R224Q	ENSP00000336923:R575Q	R	+	2	0	ARHGAP10	149163871	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	2.256000	0.43231	2.690000	0.91761	0.655000	0.94253	CGG		0.488	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
PIK3R1	5295	broad.mit.edu	37	5	67589149	67589151	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:67589149_67589151delATT	ENST00000521381.1	+	10	1753_1755	c.1137_1139delATT	c.(1135-1140)aaatta>aaa	p.L380del	PIK3R1_ENST00000521657.1_In_Frame_Del_p.L380del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.L17del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.L380del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.L80del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.L380del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.L110del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	380	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)|p.L380del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GAAATAACAAATTAATCAAAATA	0.305			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		3	Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.L380del(2)|p.0?(1)|p.?(1)	large_intestine(1)|lung(1)|central_nervous_system(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1135-1140)aaatta>aaa		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589149_67589151delATT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1137_1139delATT	5.37:g.67589149_67589151delATT	ENSP00000428056:p.Leu380del	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Del_p.L80del|PIK3R1_uc003jvd.3_In_Frame_Del_p.L110del|PIK3R1_uc003jve.3_In_Frame_Del_p.L59del|PIK3R1_uc021xzn.1_In_Frame_Del_p.L17del|PIK3R1_uc011crb.2_In_Frame_Del_p.L50del	p.L380del	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	9	1717_1719	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	380			SH2 1.		B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1137_1139delATT	CCDS3993.1																																																																																				0.305	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
PRR16	51334	broad.mit.edu	37	5	120021674	120021674	+	Missense_Mutation	SNP	C	C	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:120021674C>A	ENST00000407149.2	+	2	394	c.185C>A	c.(184-186)aCc>aAc	p.T62N	PRR16_ENST00000446965.1_5'UTR|PRR16_ENST00000505123.1_5'UTR|PRR16_ENST00000379551.2_Missense_Mutation_p.T39N			Q569H4	LARGN_HUMAN	proline rich 16	62					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GACACCCTGACCTCTGACCTA	0.443																																						uc003ksq.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(184-186)aCc>aAc		Homo sapiens proline rich 16 (PRR16), mRNA.							93.0	85.0	88.0					5																	120021674		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120021674C>A	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.185C>A	5.37:g.120021674C>A	ENSP00000385118:p.Thr62Asn					PRR16_uc003ksp.3_Missense_Mutation_p.T39N|PRR16_uc003ksr.3_5'UTR	p.T62N	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	1	348	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	62					D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.185C>A		.	.	.	.	.	.	.	.	.	.	C	22.2	4.255375	0.80135	.	.	ENSG00000184838	ENST00000407149;ENST00000379551	T;T	0.61274	0.12;0.12	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.71721	-0.4507	9	.	.	.	-6.2379	17.7817	0.88526	0.0:1.0:0.0:0.0	.	62;39	Q569H4;Q569H4-3	PRR16_HUMAN;.	N	62;39	ENSP00000385118:T62N;ENSP00000368869:T39N	.	T	+	2	0	PRR16	120049573	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.383000	0.79741	2.568000	0.86640	0.555000	0.69702	ACC		0.443	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644	
MATR3	9782	broad.mit.edu	37	5	138658286	138658286	+	Splice_Site	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:138658286G>A	ENST00000394805.3	+	12	2113		c.e12-1		MATR3_ENST00000509990.1_Splice_Site|MATR3_ENST00000510056.1_Splice_Site|MATR3_ENST00000503811.1_Splice_Site|MATR3_ENST00000502499.1_Splice_Site|MATR3_ENST00000504203.1_Splice_Site|MATR3_ENST00000394800.2_Splice_Site|MATR3_ENST00000502929.1_Splice_Site|MATR3_ENST00000361059.2_Splice_Site	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3						cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTGATTTCAGAAAAAGATCT	0.338																																						uc003ldw.3																			0				breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.e13-1		Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.							76.0	79.0	78.0					5																	138658286		2202	4299	6501	SO:0001630	splice_region_variant	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138658286G>A	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1779-1G>A	5.37:g.138658286G>A						MATR3_uc003ldt.3_Splice_Site_p.R255_splice|MATR3_uc003ldu.3_Splice_Site_p.R593_splice|MATR3_uc010jfb.3_Splice_Site_p.R593_splice|MATR3_uc003ldx.3_Splice_Site_p.R593_splice|MATR3_uc003ldy.3_Splice_Site_p.R270_splice|MATR3_uc003ldz.3_Splice_Site_p.R593_splice|MATR3_uc011czb.2_Splice_Site_p.R305_splice|MATR3_uc003leb.3_Splice_Site_p.R255_splice|MATR3_uc003lec.3_Splice_Site_p.R270_splice	p.R593_splice	NM_018834	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		13	2182	+			593					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Splice_Site	SNP	ENST00000394805.3	37	c.1779_splice	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555612	0.27739	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000503811	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4895	0.95044	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MATR3	138686185	1.000000	0.71417	0.953000	0.39169	0.209000	0.24338	6.551000	0.73909	2.596000	0.87737	0.655000	0.94253	.		0.338	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834	Intron
ARSI	340075	broad.mit.edu	37	5	149677472	149677472	+	Missense_Mutation	SNP	G	G	A	rs149628658		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:149677472G>A	ENST00000328668.7	-	2	1594	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	339					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCTTGTCCGTTGCTTTCGC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20500	0.0		0.0	False		,,,				2504	0.0					uc003lrv.2																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(1015-1017)Cgg>Tgg		Homo sapiens arylsulfatase family, member I (ARSI), mRNA.		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	38.0	39.0	38.0		1015	-1.3	0.9	5	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ARSI	NM_001012301.2	101	0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308	probably-damaging	339/570	149677472	4,13002	2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677472G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1015C>T	5.37:g.149677472G>A	ENSP00000333395:p.Arg339Trp						p.R339W	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1604	-			339					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1015C>T	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.110403	0.37242	6.81E-4	1.16E-4	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.98889	-5.21;-5.21	4.46	-1.34	0.09143	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	M	0.89030	3	0.41301	D	0.987048	D	0.76494	0.999	P	0.62885	0.908	D	0.97337	0.9954	10	0.54805	T	0.06	.	6.9485	0.24532	0.152:0.0:0.3441:0.5039	.	339	Q5FYB1	ARSI_HUMAN	W	339;196	ENSP00000333395:R339W;ENSP00000426879:R196W	ENSP00000333395:R339W	R	-	1	2	ARSI	149657665	0.002000	0.14202	0.917000	0.36280	0.990000	0.78478	0.622000	0.24433	-0.067000	0.12976	0.561000	0.74099	CGG		0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301	
FLT4	2324	broad.mit.edu	37	5	180041121	180041121	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:180041121G>A	ENST00000261937.6	-	24	3356	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M	FLT4_ENST00000393347.3_Missense_Mutation_p.T1093M|FLT4_ENST00000502649.1_Missense_Mutation_p.T1093M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1093	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCACTCTGCGTGGTGTACAC	0.622																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3277-3279)aCg>aTg		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						157.0	139.0	145.0					5																	180041121		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180041121G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3278C>T	5.37:g.180041121G>A	ENSP00000261937:p.Thr1093Met					FLT4_uc003mma.4_Missense_Mutation_p.T1093M	p.T1093M	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	23	3357	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1093			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3278C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504435	0.64410	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	3.57	2.69	0.31865	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.87087	0.6090	L	0.55103	1.725	0.43214	D	0.995082	D;D	0.67145	0.99;0.996	D;D	0.69479	0.941;0.964	D	0.87261	0.2279	9	0.87932	D	0	.	11.3638	0.49660	0.0911:0.0:0.9089:0.0	.	1093;1093	E9PD35;P35916	.;VGFR3_HUMAN	M	1093;1093;1093;131	ENSP00000261937:T1093M;ENSP00000377016:T1093M;ENSP00000426057:T1093M;ENSP00000421535:T131M	ENSP00000261937:T1093M	T	-	2	0	FLT4	179973727	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	4.799000	0.62517	1.062000	0.40625	0.542000	0.68232	ACG		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		
DNAH8	1769	broad.mit.edu	37	6	38704949	38704949	+	Missense_Mutation	SNP	G	G	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:38704949G>T	ENST00000359357.3	+	4	472	c.218G>T	c.(217-219)gGt>gTt	p.G73V	DNAH8_ENST00000449981.2_Missense_Mutation_p.G290V|DNAH8_ENST00000441566.1_Missense_Mutation_p.G73V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	73					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAACTGGGGTGCTTTAAAC	0.353																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(868-870)gGt>gTt		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							92.0	96.0	94.0					6																	38704949		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38704949G>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.218G>T	6.37:g.38704949G>T	ENSP00000352312:p.Gly73Val					DNAH8_uc003ooe.2_Missense_Mutation_p.G73V	p.G290V	NM_001206927	NP_001193856					5	978	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.869G>T		.	.	.	.	.	.	.	.	.	.	G	16.71	3.197911	0.58126	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.30714	1.52;1.61;1.54	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.77313	2.365	0.80722	D	1	P	0.36412	0.552	B	0.38500	0.275	T	0.19943	-1.0290	10	0.54805	T	0.06	.	17.2595	0.87066	0.0:0.0:1.0:0.0	.	73	Q96JB1	DYH8_HUMAN	V	278;278;73;73	ENSP00000333363:G278V;ENSP00000352312:G73V;ENSP00000402294:G73V	ENSP00000333363:G278V	G	+	2	0	DNAH8	38812927	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.339000	0.79282	2.565000	0.86533	0.591000	0.81541	GGT		0.353	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
PKHD1	5314	broad.mit.edu	37	6	51900449	51900449	+	Silent	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:51900449C>T	ENST00000371117.3	-	28	3443	c.3168G>A	c.(3166-3168)tcG>tcA	p.S1056S	PKHD1_ENST00000340994.4_Silent_p.S1056S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1056	IPT/TIG 5.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGATGGCACACGAGTAAGATC	0.453																																						uc003pah.1																			0		p.S1056W(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(3166-3168)tcG>tcA		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.							144.0	131.0	135.0					6																	51900449		2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900449C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3168G>A	6.37:g.51900449C>T						PKHD1_uc003pai.3_Silent_p.S1056S	p.S1056S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			27	3444	-	Lung NSC(77;0.0605)		1056			IPT/TIG 5.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.3168G>A	CCDS4935.1																																																																																				0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
KHDRBS2	202559	broad.mit.edu	37	6	62604661	62604661	+	Missense_Mutation	SNP	C	C	T	rs374827571		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:62604661C>T	ENST00000281156.4	-	6	967	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	230	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAGCGCTCCACGGGTTACAGT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		14039	0.001		0.0	False		,,,				2504	0.0					uc003peg.2																			0		p.T229T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(688-690)cGt>cAt		Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.		C	HIS/ARG	0,4406		0,0,2203	46.0	47.0	47.0		689	5.5	1.0	6		47	1,8599	1.2+/-3.3	0,1,4299	no	missense	KHDRBS2	NM_152688.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	230/350	62604661	1,13005	2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62604661C>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.689G>A	6.37:g.62604661C>T	ENSP00000281156:p.Arg230His						p.R230H	NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	5	936	-			230			Pro-rich.		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.689G>A	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412568	0.62511	0.0	1.16E-4	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.50001	0.76	5.52	5.52	0.82312	.	0.056069	0.85682	D	0.000000	T	0.39545	0.1082	M	0.71206	2.165	0.46044	D	0.998834	B	0.31193	0.312	B	0.25140	0.058	T	0.43621	-0.9380	10	0.59425	D	0.04	-3.1157	19.7889	0.96450	0.0:1.0:0.0:0.0	.	230	Q5VWX1	KHDR2_HUMAN	H	230	ENSP00000281156:R230H	ENSP00000281156:R230H	R	-	2	0	KHDRBS2	62662620	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.138000	0.71717	2.734000	0.93682	0.655000	0.94253	CGT		0.627	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
BCKDHB	594	broad.mit.edu	37	6	80881059	80881059	+	Missense_Mutation	SNP	A	A	G			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:80881059A>G	ENST00000320393.6	+	6	741	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E	BCKDHB_ENST00000545529.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.K232E	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	232					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CATAGAGGATAAAAATCCTTG	0.294																																						uc003pjd.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15						c.(694-696)Aaa>Gaa		Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							30.0	36.0	34.0					6																	80881059		2200	4297	6497	SO:0001583	missense	594				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding	g.chr6:80881059A>G	M55575	CCDS4994.1	6q14.1	2008-07-31	2008-07-31		ENSG00000083123	ENSG00000083123			987	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	248611					Standard	NM_183050		Approved		uc003pje.2	P21953	OTTHUMG00000016430	ENST00000320393.6:c.694A>G	6.37:g.80881059A>G	ENSP00000318351:p.Lys232Glu					BCKDHB_uc003pje.2_Missense_Mutation_p.K232E	p.K232E	NM_000056	NP_898871	P21953	ODBB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0291)	5	761	+		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)	232					Q5T2J3|Q9BQL0	Missense_Mutation	SNP	ENST00000320393.6	37	c.694A>G	CCDS4994.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060325	0.36373	.	.	ENSG00000083123	ENST00000320393;ENST00000356489;ENST00000541767	D;D	0.91237	-2.81;-2.81	5.66	5.66	0.87406	Transketolase-like, pyrimidine-binding domain (2);	0.193386	0.53938	D	0.000059	T	0.72653	0.3487	N	0.10760	0.04	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.69932	-0.5011	10	0.33141	T	0.24	-15.2407	15.082	0.72122	1.0:0.0:0.0:0.0	.	232	P21953	ODBB_HUMAN	E	232;232;162	ENSP00000318351:K232E;ENSP00000348880:K232E	ENSP00000318351:K232E	K	+	1	0	BCKDHB	80937778	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.520000	0.53465	2.173000	0.68751	0.533000	0.62120	AAA		0.294	BCKDHB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043911.2	NM_000056	
AIM1	202	broad.mit.edu	37	6	106999811	106999811	+	Silent	SNP	A	A	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:106999811A>T	ENST00000369066.3	+	12	4660	c.4173A>T	c.(4171-4173)ggA>ggT	p.G1391G	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Silent_p.G210G	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGACTGGGGAGGCAAAAATT	0.338																																						uc003prh.3																			0				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69						c.(4171-4173)ggA>ggT		Homo sapiens absent in melanoma 1 (AIM1), mRNA.							95.0	104.0	101.0					6																	106999811		2203	4299	6502	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:106999811A>T	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4173A>T	6.37:g.106999811A>T						AIM1_uc003pri.3_Silent_p.G195G	p.G1391G	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	11	5085	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1391			Beta/gamma crystallin 'Greek key' 8.		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.4173A>T	CCDS34506.1																																																																																				0.338	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
YAE1D1	57002	broad.mit.edu	37	7	39612016	39612016	+	Missense_Mutation	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:39612016T>C	ENST00000223273.2	+	3	435	c.392T>C	c.(391-393)gTa>gCa	p.V131A	YAE1D1_ENST00000448268.1_3'UTR|YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	YAED1_HUMAN	Yae1 domain containing 1	131																	TCCCATGTTGTAGATTTATTG	0.373																																						uc003thc.4																			0											c.(391-393)gTa>gCa		Homo sapiens Yae1 domain containing 1 (YAE1D1), mRNA.							137.0	127.0	130.0					7																	39612016		2203	4300	6503	SO:0001583	missense	57002							g.chr7:39612016T>C	AF226046	CCDS5459.1, CCDS64630.1	7p14.1	2011-11-24	2011-11-24	2011-11-24	ENSG00000241127	ENSG00000241127			24857	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 36"""	C7orf36		12477932	Standard	NM_020192		Approved	GK003	uc003thc.4	Q9NRH1	OTTHUMG00000128689	ENST00000223273.2:c.392T>C	7.37:g.39612016T>C	ENSP00000223273:p.Val131Ala						p.V131A	NM_020192	NP_064577	Q9NRH1	CG036_HUMAN			2	407	+			131					A4D1W4|B4DE83|Q6IAF7|Q8WVZ5	Missense_Mutation	SNP	ENST00000223273.2	37	c.392T>C	CCDS5459.1	.	.	.	.	.	.	.	.	.	.	T	8.897	0.955381	0.18507	.	.	ENSG00000241127	ENST00000223273	T	0.41758	0.99	5.93	-2.62	0.06152	.	0.654468	0.16402	N	0.215964	T	0.28333	0.0700	L	0.47716	1.5	0.53005	D	0.999965	B	0.15473	0.013	B	0.10450	0.005	T	0.20240	-1.0281	10	0.11794	T	0.64	-13.4813	9.8796	0.41225	0.0:0.1441:0.5609:0.295	.	131	Q9NRH1	CG036_HUMAN	A	131	ENSP00000223273:V131A	ENSP00000223273:V131A	V	+	2	0	C7orf36	39578541	0.996000	0.38824	0.875000	0.34327	0.987000	0.75469	0.387000	0.20718	-0.049000	0.13379	0.533000	0.62120	GTA		0.373	YAE1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250586.1	NM_020192	
SPDYE1	285955	broad.mit.edu	37	7	44046879	44046879	+	Silent	SNP	T	T	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:44046879T>C	ENST00000258704.3	+	5	782	c.645T>C	c.(643-645)aaT>aaC	p.N215N	POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	215										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ACCTGGCCAATGACATGGAGG	0.567																																						uc003tjf.3																			0				endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						c.(643-645)aaT>aaC		Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.							93.0	93.0	93.0					7																	44046879		2203	4296	6499	SO:0001819	synonymous_variant	285955							g.chr7:44046879T>C	AF412027	CCDS5475.1	7q11.23	2013-05-08	2013-05-08	2009-02-17	ENSG00000136206	ENSG00000136206		"""Speedy homologs"""	16408	protein-coding gene	gene with protein product	"""Speedy E"""		"""Williams Beuren syndrome chromosome region 19"", ""speedy homolog E1 (Xenopus laevis)"""	WBSCR19		12073013	Standard	NM_175064		Approved	Ringo1, SPDYE	uc003tjf.3	Q8NFV5	OTTHUMG00000128985	ENST00000258704.3:c.645T>C	7.37:g.44046879T>C						POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron|AX747182_uc003tjg.1_Non-coding_Transcript	p.N215N	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN			4	781	+			215					Q9NTH5	Silent	SNP	ENST00000258704.3	37	c.645T>C	CCDS5475.1																																																																																				0.567	SPDYE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250974.1	NM_175064	
EGFR	1956	broad.mit.edu	37	7	55249017	55249018	+	In_Frame_Ins	INS	-	-	CCACGT	rs397517116|rs121913445|rs397517115		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:55249017_55249018insCCACGT	ENST00000275493.2	+	20	2492_2493	c.2315_2316insCCACGT	c.(2314-2319)ccccac>ccCCACGTccac	p.773_774insVH	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_In_Frame_Ins_p.728_729insVH|EGFR_ENST00000454757.2_In_Frame_Ins_p.720_721insVH|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	773	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P772_H773insX(2)|p.N771_P772>SVDNR(1)|p.P772_H773insTHP(1)|p.P772_H773insV(1)|p.P772_H773insHV(1)|p.H773>NPY(1)|p.P772P(1)|p.P772R(1)|p.D770_P772>ASVDNR(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGGACAACCCCCACGTGTGCC	0.644		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		10	Insertion - In frame(5)|Complex - insertion inframe(3)|Substitution - Missense(1)|Substitution - coding silent(1)	p.H773_V774insNPH(15)|p.P772_H773insPR(11)|p.H773R(9)|p.V774M(5)|p.V774_C775insHV(4)|p.P772_H773insX(4)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.C775Y(2)|p.P772_H773insYNP(2)|p.P772_H773insV(2)|p.H773L(2)|p.H773Y(2)|p.P772_H773insTHP(2)|p.P772_H773insHV(2)|p.H773>NPY(2)|p.C775R(1)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.H773_V774insQ(1)|p.H773_V774insGNPH(1)|p.V774del(1)|p.D770_P772>ASVDNR(1)|p.V774L(1)|p.P772_H773insDHP(1)|p.P772_H773insDNP(1)|p.P772_H773insQV(1)|p.N771_P772>SVDNR(1)|p.H773_V774>LM(1)|p.P772P(1)|p.P772R(1)	lung(9)|ovary(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(2314-2316)ccc>ccCCACGTc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)																																			SO:0001652	inframe_insertion	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55249017_55249018insCCACGT		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2316_2321dupCCACGT	7.37:g.55249018_55249023dupCCACGT	ENSP00000275493:p.His773_Val774insValHis	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc022adm.1_In_Frame_Ins_p.774_775insHV|EGFR_uc010kzg.2_In_Frame_Ins_p.729_730insHV|EGFR_uc022adn.1_In_Frame_Ins_p.729_730insHV|EGFR_uc011kco.2_In_Frame_Ins_p.721_722insHV|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.9_10insHV	p.774_775insHV	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		19	2561_2562	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		774			Protein kinase.		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	In_Frame_Ins	INS	ENST00000275493.2	37	c.2315_2316insCCACGT	CCDS5514.1																																																																																				0.644	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CLDN4	1364	broad.mit.edu	37	7	73245947	73245947	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:73245947C>T	ENST00000435050.1	+	2	3096	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CLDN4_ENST00000431918.1_Missense_Mutation_p.T139M|CLDN4_ENST00000340958.2_Missense_Mutation_p.T139M			O14493	CLD4_HUMAN	claudin 4	139					calcium-independent cell-cell adhesion (GO:0016338)|establishment of skin barrier (GO:0061436)|female pregnancy (GO:0007565)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basal plasma membrane (GO:0009925)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTGTCCTGGACGGCCCACAAC	0.632																																						uc003tzi.4																			0				kidney(2)|lung(4)|urinary_tract(1)	7						c.(415-417)aCg>aTg		Homo sapiens claudin 4 (CLDN4), mRNA.							94.0	85.0	88.0					7																	73245947		2203	4300	6503	SO:0001583	missense	1364				calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity	g.chr7:73245947C>T	AB000712	CCDS5560.1	7q11.23	2008-07-18			ENSG00000189143	ENSG00000189143		"""Claudins"""	2046	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 1"", ""Williams-Beuren syndrome chromosomal region 8 protein"""	602909		CPETR, CPETR1		9334247, 9892664	Standard	NM_001305		Approved	CPE-R, WBSCR8, hCPE-R	uc003tzi.4	O14493	OTTHUMG00000023425	ENST00000435050.1:c.416C>T	7.37:g.73245947C>T	ENSP00000409544:p.Thr139Met					CLDN4_uc003tzh.1_Non-coding_Transcript	p.T139M	NM_001305	NP_001296	O14493	CLD4_HUMAN			0	755	+		Lung NSC(55;0.159)	139						Missense_Mutation	SNP	ENST00000435050.1	37	c.416C>T	CCDS5560.1	.	.	.	.	.	.	.	.	.	.	C	17.55	3.418114	0.62622	.	.	ENSG00000189143	ENST00000435050;ENST00000431918;ENST00000340958;ENST00000543176	D;D;D	0.88509	-2.39;-2.39;-2.39	5.5	5.5	0.81552	.	0.239601	0.42964	D	0.000633	D	0.88894	0.6561	M	0.66439	2.03	0.41689	D	0.989335	P	0.46987	0.888	B	0.43386	0.418	D	0.88471	0.3062	10	0.35671	T	0.21	.	16.8934	0.86093	0.0:1.0:0.0:0.0	.	139	O14493	CLD4_HUMAN	M	139;139;139;126	ENSP00000409544:T139M;ENSP00000388639:T139M;ENSP00000342445:T139M	ENSP00000342445:T139M	T	+	2	0	CLDN4	72883883	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	4.974000	0.63771	2.598000	0.87819	0.655000	0.94253	ACG		0.632	CLDN4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348030.1	NM_001305	
SAMD9	54809	broad.mit.edu	37	7	92733004	92733004	+	Missense_Mutation	SNP	C	C	T	rs541996783	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:92733004C>T	ENST00000379958.2	-	3	2676	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	803						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTATCTTGTTCTTCAAAATCA	0.353																																						uc003umf.3																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						c.(2407-2409)Gaa>Aaa		Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.							95.0	93.0	94.0					7																	92733004		2203	4298	6501	SO:0001583	missense	54809					cytoplasm		g.chr7:92733004C>T	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.2407G>A	7.37:g.92733004C>T	ENSP00000369292:p.Glu803Lys					SAMD9_uc003umg.3_Missense_Mutation_p.E803K|SAMD9_uc022ahg.1_Missense_Mutation_p.E803K	p.E803K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		2	2677	-	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		803					A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	c.2407G>A	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167766	0.57476	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.81415	-1.49;-1.49	4.44	3.56	0.40772	.	0.251641	0.30989	U	0.008468	T	0.77294	0.4109	M	0.67953	2.075	0.32319	N	0.562659	B	0.25235	0.121	B	0.21708	0.036	T	0.80113	-0.1518	10	0.72032	D	0.01	.	11.1109	0.48232	0.0:0.9081:0.0:0.0919	.	803	Q5K651	SAMD9_HUMAN	K	803	ENSP00000369292:E803K;ENSP00000414529:E803K	ENSP00000369292:E803K	E	-	1	0	SAMD9	92570940	1.000000	0.71417	0.986000	0.45419	0.454000	0.32378	3.459000	0.53021	1.092000	0.41356	0.609000	0.83330	GAA		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
GIMAP4	55303	broad.mit.edu	37	7	150269429	150269429	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:150269429G>A	ENST00000255945.2	+	3	446	c.271G>A	c.(271-273)Gac>Aac	p.D91N	GIMAP4_ENST00000461940.1_Missense_Mutation_p.D105N|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	91	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCATTTTCGACACAGAGGT	0.507																																						uc003whl.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(271-273)Gac>Aac		Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.							115.0	100.0	105.0					7																	150269429		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269429G>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.271G>A	7.37:g.150269429G>A	ENSP00000255945:p.Asp91Asn					GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.D105N	p.D91N	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	353	+			91						Missense_Mutation	SNP	ENST00000255945.2	37	c.271G>A	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485988	0.44147	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000479232	T;T;T	0.08193	3.12;3.12;3.12	4.61	3.73	0.42828	AIG1 (1);	0.102316	0.64402	N	0.000003	T	0.21103	0.0508	M	0.79475	2.455	0.43503	D	0.995751	D;D	0.69078	0.997;0.995	P;P	0.57468	0.696;0.821	T	0.00756	-1.1579	10	0.66056	D	0.02	.	8.4982	0.33141	0.1059:0.0:0.8941:0.0	.	105;91	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	N	91;105;105	ENSP00000255945:D91N;ENSP00000419545:D105N;ENSP00000418615:D105N	ENSP00000255945:D91N	D	+	1	0	GIMAP4	149900362	0.998000	0.40836	0.382000	0.26119	0.024000	0.10985	3.338000	0.52128	1.181000	0.42912	0.655000	0.94253	GAC		0.507	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326	
EPPK1	83481	broad.mit.edu	37	8	144940800	144940800	+	Missense_Mutation	SNP	G	G	C			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr8:144940800G>C	ENST00000525985.1	-	2	6693	c.6622C>G	c.(6622-6624)Caa>Gaa	p.Q2208E				P58107	EPIPL_HUMAN	epiplakin 1	2208						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGAGCTCTTGCGTCGTGCTC	0.622																																						uc003zaa.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6622-6624)Caa>Gaa		Homo sapiens epiplakin 1 (EPPK1), mRNA.							160.0	165.0	164.0					8																	144940800		2043	4179	6222	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144940800G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6622C>G	8.37:g.144940800G>C	ENSP00000436337:p.Gln2208Glu						p.Q2208E	NM_031308	NP_112598	P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		0	6635	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		2208					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.6622C>G		.	.	.	.	.	.	.	.	.	.	G	0.321	-0.961876	0.02249	.	.	ENSG00000227184	ENST00000525985	T	0.68025	-0.3	4.36	-1.27	0.09347	.	.	.	.	.	T	0.47135	0.1429	N	0.17278	0.47	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.32375	-0.9909	9	0.02654	T	1	.	18.864	0.92283	0.0:0.7551:0.2449:0.0	.	2208	E9PPU0	.	E	2208	ENSP00000436337:Q2208E	ENSP00000436337:Q2208E	Q	-	1	0	EPPK1	145012788	0.021000	0.18746	0.000000	0.03702	0.003000	0.03518	0.923000	0.28757	-0.371000	0.08004	0.585000	0.79938	CAA		0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
SPATA31C1	441452	broad.mit.edu	37	9	90536103	90536103	+	RNA	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:90536103C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATCTCAGGACGTCTTTAGTG	0.493																																						uc010mqi.3																			0											c.(1279-1281)gaC>gaT		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							2.0	2.0	2.0					9																	90536103		483	1206	1689			441452							g.chr9:90536103C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536103C>T						FAM75C1_uc004apq.4_Silent_p.D410D	p.D427D	NM_001145124	NP_001138596					3	1310	+									Silent	SNP	ENST00000602681.1	37	c.1281C>T																																																																																					0.493	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
GFI1B	8328	broad.mit.edu	37	9	135866288	135866288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:135866288G>A	ENST00000339463.3	+	11	1663	c.844G>A	c.(844-846)Gga>Aga	p.G282R	GFI1B_ENST00000372122.1_Missense_Mutation_p.G282R|GFI1B_ENST00000534944.1_Missense_Mutation_p.G236R|GFI1B_ENST00000450530.1_Missense_Mutation_p.G282R|GFI1B_ENST00000372123.1_Missense_Mutation_p.G236R|GFI1B_ENST00000372124.1_Missense_Mutation_p.G236R			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	282	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCAGGTGTGCGGAAAGGCCTT	0.647																																						uc004ccg.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21						c.(844-846)Gga>Aga		Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.							88.0	74.0	79.0					9																	135866288		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866288G>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.844G>A	9.37:g.135866288G>A	ENSP00000344782:p.Gly282Arg					GFI1B_uc010mzy.3_Missense_Mutation_p.G236R	p.G282R	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	6	1199	+			282			Interaction with ARIH2.|Mediates interaction with GATA1.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.844G>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431390	0.83776	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	4.9	4.9	0.64082	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52821	0.1758	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.968;0.981	T	0.62407	-0.6861	10	0.87932	D	0	-15.5286	17.4238	0.87521	0.0:0.0:1.0:0.0	.	236;282	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	R	236;282;282;236;236;282	ENSP00000361197:G236R;ENSP00000344782:G282R;ENSP00000409546:G282R;ENSP00000446134:G236R;ENSP00000361196:G236R;ENSP00000361195:G282R	ENSP00000344782:G282R	G	+	1	0	GFI1B	134856109	1.000000	0.71417	0.746000	0.31095	0.642000	0.38348	9.813000	0.99286	2.425000	0.82216	0.462000	0.41574	GGA		0.647	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188	
COL5A1	1289	broad.mit.edu	37	9	137623480	137623480	+	Missense_Mutation	SNP	C	C	T	rs377488010		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:137623480C>T	ENST00000371817.3	+	8	1717	c.1303C>T	c.(1303-1305)Ccg>Tcg	p.P435S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	435	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCGGGAATGCCGGCGAACCA	0.647																																						uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1303-1305)Ccg>Tcg		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.							92.0	90.0	91.0					9																	137623480		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137623480C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1303C>T	9.37:g.137623480C>T	ENSP00000360882:p.Pro435Ser						p.P435S	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	7	1685	+		Myeloproliferative disorder(178;0.0341)	435			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1303C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894653	0.33442	.	.	ENSG00000130635	ENST00000371817	D	0.89617	-2.54	4.06	4.06	0.47325	.	0.186770	0.34879	U	0.003609	D	0.90164	0.6926	L	0.35341	1.055	0.48975	D	0.999732	D	0.63880	0.993	D	0.70227	0.968	D	0.88947	0.3384	10	0.32370	T	0.25	.	14.4191	0.67171	0.0:1.0:0.0:0.0	.	435	P20908	CO5A1_HUMAN	S	435	ENSP00000360882:P435S	ENSP00000360882:P435S	P	+	1	0	COL5A1	136763301	1.000000	0.71417	0.927000	0.36925	0.422000	0.31414	4.459000	0.60102	1.799000	0.52666	0.313000	0.20887	CCG		0.647	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
IL13RA2	3598	broad.mit.edu	37	X	114249014	114249014	+	Missense_Mutation	SNP	C	C	T			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chrX:114249014C>T	ENST00000371936.1	-	5	619	c.370G>A	c.(370-372)Gca>Aca	p.A124T	IL13RA2_ENST00000243213.1_Missense_Mutation_p.A124T|IL13RA2_ENST00000468224.1_5'Flank			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	124	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTAGTTTCTGCCCAGGAACTT	0.363																																						uc004epx.3																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						c.(370-372)Gca>Aca		Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.							155.0	142.0	147.0					X																	114249014		2203	4300	6503	SO:0001583	missense	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114249014C>T	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.370G>A	X.37:g.114249014C>T	ENSP00000361004:p.Ala124Thr					IL13RA2_uc010nqd.1_Missense_Mutation_p.A124T|IL13RA2_uc022cdb.1_Missense_Mutation_p.A124T	p.A124T	NM_000640	NP_000631	Q14627	I13R2_HUMAN			3	495	-			124			Fibronectin type-III 1.		A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	c.370G>A	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	C	0.053	-1.244263	0.01481	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.89875	-2.58;-2.58	4.99	-3.82	0.04281	Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.077810	0.07181	N	0.853999	T	0.70570	0.3239	N	0.04355	-0.22	0.22366	N	0.999163	B;B	0.17038	0.017;0.02	B;B	0.08055	0.0;0.003	T	0.57165	-0.7858	10	0.23302	T	0.38	-0.0646	5.1082	0.14794	0.2226:0.339:0.0:0.4384	.	124;124	D0EFR8;Q14627	.;I13R2_HUMAN	T	124	ENSP00000361004:A124T;ENSP00000243213:A124T	ENSP00000243213:A124T	A	-	1	0	IL13RA2	114155270	0.940000	0.31905	0.949000	0.38748	0.156000	0.22039	0.058000	0.14301	-0.463000	0.06973	-0.490000	0.04691	GCA		0.363	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640	
