#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
PTPRU	10076	broad.mit.edu	37	1	29602053	29602053	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:29602053G>A	ENST00000345512.3	+	8	1367	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	PTPRU_ENST00000323874.8_Missense_Mutation_p.R413H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R413H|PTPRU_ENST00000356870.3_Missense_Mutation_p.R413H|PTPRU_ENST00000460170.2_Missense_Mutation_p.R413H|PTPRU_ENST00000373779.3_Missense_Mutation_p.R413H	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	413	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AACGTGACGCGTTGCCACACC	0.592																																						uc001bru.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(1237-1239)cGt>cAt		Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.							117.0	101.0	106.0					1																	29602053		2203	4300	6503	SO:0001583	missense	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29602053G>A	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1238G>A	1.37:g.29602053G>A	ENSP00000334941:p.Arg413His					PTPRU_uc009vtq.3_Missense_Mutation_p.R413H|PTPRU_uc009vtr.3_Missense_Mutation_p.R413H|PTPRU_uc001brw.3_Missense_Mutation_p.R413H	p.R413H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1367	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	413			Fibronectin type-III 2.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.1238G>A	CCDS334.1	.	.	.	.	.	.	.	.	.	.	G	35	5.545338	0.96488	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6	5.4	5.4	0.78164	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74068	0.3668	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.993;0.993	T	0.74216	-0.3737	9	.	.	.	.	18.5309	0.90992	0.0:0.0:1.0:0.0	.	413;413;413;413;413	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	H	413	ENSP00000334941:R413H;ENSP00000362884:R413H;ENSP00000349333:R413H;ENSP00000314987:R413H;ENSP00000392332:R413H;ENSP00000432906:R413H	.	R	+	2	0	PTPRU	29474640	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	9.734000	0.98822	2.695000	0.91970	0.643000	0.83706	CGT		0.592	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
CYP4B1	1580	broad.mit.edu	37	1	47282838	47282838	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:47282838C>T	ENST00000271153.4	+	9	1225	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	CYP4B1_ENST00000452782.2_Missense_Mutation_p.R235W|CYP4B1_ENST00000371919.4_Missense_Mutation_p.R383W|CYP4B1_ENST00000371923.4_Missense_Mutation_p.R398W			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	397					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TGTGGATGGCCGGTCTCTACC	0.567																																						uc001cqn.4																			0				NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36						c.(1192-1194)Cgg>Tgg		Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.							85.0	80.0	82.0					1																	47282838		2203	4300	6503	SO:0001583	missense	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47282838C>T	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.1189C>T	1.37:g.47282838C>T	ENSP00000271153:p.Arg397Trp					CYP4B1_uc001cqm.4_Missense_Mutation_p.R397W|CYP4B1_uc009vym.3_Missense_Mutation_p.R383W|CYP4B1_uc010omk.2_Missense_Mutation_p.R234W	p.R398W	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN			8	1276	+	Acute lymphoblastic leukemia(166;0.155)		397					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.1192C>T	CCDS542.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560418	0.45590	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000452782;ENST00000468637	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.68	2.58	0.30949	.	0.000000	0.85682	D	0.000000	T	0.68723	0.3032	M	0.62723	1.935	0.46416	D	0.999034	P;P;P	0.47962	0.844;0.882;0.903	B;P;P	0.50708	0.284;0.516;0.648	T	0.69989	-0.4995	10	0.87932	D	0	.	8.9921	0.36030	0.1674:0.6853:0.0:0.1474	.	383;398;397	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	W	398;397;383;235;234	ENSP00000360991:R398W;ENSP00000271153:R397W;ENSP00000360987:R383W;ENSP00000400413:R235W;ENSP00000437670:R234W	ENSP00000271153:R397W	R	+	1	2	CYP4B1	47055425	0.947000	0.32204	1.000000	0.80357	0.820000	0.46376	1.517000	0.35867	0.776000	0.33473	-0.254000	0.11334	CGG		0.567	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	
LYST	1130	broad.mit.edu	37	1	235860518	235860518	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:235860518T>C	ENST00000389794.3	-	46	10603	c.10429A>G	c.(10429-10431)Agt>Ggt	p.S3477G	LYST_ENST00000389793.2_Missense_Mutation_p.S3477G|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3477					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTGGAGCACTGGGGGAACCC	0.473																																						uc001hxj.2																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(10429-10431)Agt>Ggt		Homo sapiens lysosomal trafficking regulator (LYST), mRNA.							62.0	67.0	66.0					1																	235860518		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235860518T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10429A>G	1.37:g.235860518T>C	ENSP00000374444:p.Ser3477Gly					LYST_uc001hxi.2_Missense_Mutation_p.S701G	p.S3477G	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		45	10604	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	3477					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.10429A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	17.79	3.477062	0.63849	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.62498	0.02;0.02	5.88	5.88	0.94601	.	0.294404	0.45606	D	0.000358	T	0.66684	0.2814	L	0.48642	1.525	0.80722	D	1	D	0.54772	0.968	P	0.51170	0.661	T	0.70110	-0.4962	10	0.72032	D	0.01	.	16.2762	0.82644	0.0:0.0:0.0:1.0	.	3477	Q99698	LYST_HUMAN	G	3477	ENSP00000374444:S3477G;ENSP00000374443:S3477G	ENSP00000374443:S3477G	S	-	1	0	LYST	233927141	1.000000	0.71417	0.992000	0.48379	0.969000	0.65631	6.282000	0.72639	2.243000	0.73865	0.482000	0.46254	AGT		0.473	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
RYR2	6262	broad.mit.edu	37	1	237890471	237890471	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:237890471C>T	ENST00000366574.2	+	76	11127	c.10810C>T	c.(10810-10812)Cgg>Tgg	p.R3604W	RYR2_ENST00000360064.6_Missense_Mutation_p.R3602W|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3588W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3604	Interaction with CALM.				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)			AGCCTGCTTCCGGATGGCCCC	0.403																																						uc001hyl.1																			0				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.(10810-10812)Cgg>Tgg		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							88.0	84.0	86.0					1																	237890471		1843	4074	5917	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.chr1:237890471C>T	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.10810C>T	1.37:g.237890471C>T	ENSP00000355533:p.Arg3604Trp					RYR2_uc010pya.2_5'UTR|RYR2_uc021pkz.1_Non-coding_Transcript	p.R3604W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		75	10930	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3604					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10810C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.460115	0.63401	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.98150	-4.74;-4.75;-4.74	4.98	3.06	0.35304	.	0.000000	0.52532	U	0.000065	D	0.98661	0.9551	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99187	1.0869	10	0.87932	D	0	-11.231	13.6843	0.62506	0.4723:0.5277:0.0:0.0	.	3604	Q92736	RYR2_HUMAN	W	3604;3602;3588;559	ENSP00000355533:R3604W;ENSP00000353174:R3602W;ENSP00000443798:R3588W	ENSP00000353174:R3602W	R	+	1	2	RYR2	235957094	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	0.950000	0.29122	0.592000	0.29728	0.650000	0.86243	CGG		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
STAMBPL1	57559	broad.mit.edu	37	10	90674395	90674395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr10:90674395G>T	ENST00000371926.3	+	7	1841	c.883G>T	c.(883-885)Gga>Tga	p.G295*	STAMBPL1_ENST00000371924.1_Nonsense_Mutation_p.G295*|STAMBPL1_ENST00000371927.3_Nonsense_Mutation_p.G295*|STAMBPL1_ENST00000371922.1_Nonsense_Mutation_p.G129*	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	295	MPN.					membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAACCTGTGGAATACTCTG	0.333																																						uc001kfk.3																			0				breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11						c.(883-885)Gga>Tga		Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.							79.0	77.0	78.0					10																	90674395		2203	4300	6503	SO:0001587	stop_gained	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90674395G>T	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.883G>T	10.37:g.90674395G>T	ENSP00000360994:p.Gly295*					STAMBPL1_uc010qmx.1_Nonsense_Mutation_p.G295*|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Nonsense_Mutation_p.G295*|STAMBPL1_uc001kfn.3_Nonsense_Mutation_p.G129*	p.G295*	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	6	1306	+		Colorectal(252;0.0381)	295			MPN.		B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Nonsense_Mutation	SNP	ENST00000371926.3	37	c.883G>T	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	G	47	13.543376	0.99748	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924;ENST00000371922	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-3.7051	18.4401	0.90664	0.0:0.0:1.0:0.0	.	.	.	.	X	295;295;295;129	.	ENSP00000360990:G129X	G	+	1	0	STAMBPL1	90664375	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.703000	0.92315	0.591000	0.81541	GGA		0.333	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799	
MUC5B	727897	broad.mit.edu	37	11	1266158	1266158	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr11:1266158C>G	ENST00000529681.1	+	31	8106	c.8048C>G	c.(8047-8049)aCc>aGc	p.T2683S	MUC5B_ENST00000447027.1_Missense_Mutation_p.T2686S|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2683	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCACACAGACCAGTGGTACT	0.622																																						uc001lta.3																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8047-8049)aCc>aGc		Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.							31.0	41.0	38.0					11																	1266158		1831	3992	5823	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266158C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8048C>G	11.37:g.1266158C>G	ENSP00000436812:p.Thr2683Ser						p.T2683S	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	30	8107	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2683	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8048C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	1.936	-0.444892	0.04604	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.19105	2.17;2.35	1.4	-0.828	0.10799	.	.	.	.	.	T	0.18002	0.0432	M	0.65498	2.005	0.09310	N	1	B;B	0.31931	0.347;0.347	B;B	0.23150	0.044;0.044	T	0.17198	-1.0377	9	0.87932	D	0	.	5.0371	0.14440	0.0:0.3964:0.0:0.6036	.	3321;2686	A7Y9J9;E9PBJ0	.;.	S	2683;2686;2655;2698	ENSP00000436812:T2683S;ENSP00000415793:T2686S	ENSP00000343037:T2655S	T	+	2	0	MUC5B	1222734	0.092000	0.21681	0.000000	0.03702	0.026000	0.11368	-0.229000	0.09098	-0.279000	0.09167	0.205000	0.17691	ACC		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
IGSF22	283284	broad.mit.edu	37	11	18731138	18731138	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr11:18731138G>A	ENST00000513874.1	-	18	2933	c.2794C>T	c.(2794-2796)Ccc>Tcc	p.P932S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	831										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TAGCCAGAGGGTGGGTCTCCC	0.582																																						uc009yht.2																			0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(2794-2796)Ccc>Tcc		Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.							59.0	63.0	61.0					11																	18731138		1957	4140	6097	SO:0001583	missense	283284							g.chr11:18731138G>A	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2794C>T	11.37:g.18731138G>A	ENSP00000421191:p.Pro932Ser					IGSF22_uc001mpa.2_Non-coding_Transcript	p.P932S	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN			17	2984	-			831					A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	c.2794C>T	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906537	0.33628	.	.	ENSG00000179057	ENST00000513874	T	0.57107	0.42	4.58	4.58	0.56647	.	.	.	.	.	T	0.59459	0.2195	L	0.29908	0.895	0.21499	N	0.999667	D	0.69078	0.997	D	0.77004	0.989	T	0.49862	-0.8894	9	0.72032	D	0.01	.	10.2635	0.43441	0.0941:0.0:0.9059:0.0	.	932	D6RGV7	.	S	932	ENSP00000421191:P932S	ENSP00000322422:P831S	P	-	1	0	IGSF22	18687714	0.334000	0.24739	0.545000	0.28153	0.860000	0.49131	0.823000	0.27366	2.394000	0.81467	0.655000	0.94253	CCC		0.582	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	
SLC2A14	144195	broad.mit.edu	37	12	7980153	7980153	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:7980153G>A	ENST00000543909.1	-	12	1630	c.871C>T	c.(871-873)Cga>Tga	p.R291*	SLC2A14_ENST00000535295.1_Nonsense_Mutation_p.R182*|SLC2A14_ENST00000396589.2_Nonsense_Mutation_p.R291*|SLC2A14_ENST00000431042.2_Nonsense_Mutation_p.R268*|SLC2A14_ENST00000340749.5_Nonsense_Mutation_p.R268*|SLC2A14_ENST00000542546.1_Nonsense_Mutation_p.R182*|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Nonsense_Mutation_p.R306*			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	291					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATGGGCTGTCGGTAGCTGGAC	0.478																																						uc010sgh.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(916-918)Cga>Tga		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.							78.0	86.0	84.0					12																	7980153		2203	4300	6503	SO:0001587	stop_gained	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7980153G>A	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.871C>T	12.37:g.7980153G>A	ENSP00000440480:p.Arg291*					SLC2A14_uc001qtk.3_Nonsense_Mutation_p.R291*|SLC2A14_uc001qtl.3_Nonsense_Mutation_p.R268*|SLC2A14_uc001qtm.3_Nonsense_Mutation_p.R268*|SLC2A14_uc010sgg.2_Nonsense_Mutation_p.R182*|SLC2A14_uc001qtn.3_Nonsense_Mutation_p.R291*|SLC2A14_uc001qto.3_Intron	p.R306*	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	5	937	-			291					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Nonsense_Mutation	SNP	ENST00000543909.1	37	c.916C>T	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876217	0.91664	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	.	.	.	3.58	1.65	0.23941	.	0.364938	0.31821	N	0.007018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1501	0.20306	0.1151:0.1917:0.6932:0.0	.	.	.	.	X	268;291;268;291;182;182;306	.	ENSP00000340450:R268X	R	-	1	2	SLC2A14	7871420	1.000000	0.71417	0.025000	0.17156	0.430000	0.31655	4.672000	0.61597	0.033000	0.15463	0.585000	0.79938	CGA		0.478	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	
SLC2A3	6515	broad.mit.edu	37	12	8082342	8082342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:8082342G>A	ENST00000075120.7	-	6	1039	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	267					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ATGGGCTGTCGGTAGCTGGAC	0.473																																					Colon(96;424 1461 14416 20933 23688)	uc001qtr.3																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(799-801)Cga>Tga		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.							148.0	105.0	120.0					12																	8082342		2203	4300	6503	SO:0001587	stop_gained	6515				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	g.chr12:8082342G>A	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.799C>T	12.37:g.8082342G>A	ENSP00000075120:p.Arg267*						p.R267*	NM_006931	NP_008862	P11169	GTR3_HUMAN		Kidney(36;0.0866)	5	1061	-			267					B2R606|D3DUU6|Q6I9U2|Q9UG15	Nonsense_Mutation	SNP	ENST00000075120.7	37	c.799C>T	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	38	6.799965	0.97849	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	.	.	.	4.41	1.52	0.23074	.	0.364938	0.31821	N	0.007018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9326	0.19148	0.1832:0.1586:0.6582:0.0	.	.	.	.	X	267;193	.	ENSP00000075120:R267X	R	-	1	2	SLC2A3	7973609	1.000000	0.71417	0.059000	0.19551	0.928000	0.56348	4.793000	0.62474	0.210000	0.20664	0.462000	0.41574	CGA		0.473	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931	
IGF1	3479	broad.mit.edu	37	12	102813354	102813354	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:102813354A>G	ENST00000307046.8	-	3	516	c.335T>C	c.(334-336)cTc>cCc	p.L112P	IGF1_ENST00000337514.6_Missense_Mutation_p.L112P|IGF1_ENST00000424202.2_Missense_Mutation_p.L96P|IGF1_ENST00000392904.1_Missense_Mutation_p.L112P|IGF1_ENST00000456098.1_Missense_Mutation_p.L112P	NM_001111285.1	NP_001104755.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	112	D.				blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|bone mineralization involved in bone maturation (GO:0035630)|branching morphogenesis of an epithelial tube (GO:0048754)|cell activation (GO:0001775)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|DNA replication (GO:0006260)|exocrine pancreas development (GO:0031017)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|glial cell differentiation (GO:0010001)|glycolate metabolic process (GO:0009441)|inner ear development (GO:0048839)|insulin-like growth factor receptor signaling pathway (GO:0048009)|lung alveolus development (GO:0048286)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mammary gland development (GO:0030879)|multicellular organism growth (GO:0035264)|muscle hypertrophy (GO:0014896)|muscle organ development (GO:0007517)|myoblast differentiation (GO:0045445)|myoblast proliferation (GO:0051450)|myotube cell development (GO:0014904)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate gland growth (GO:0060736)|prostate gland stromal morphogenesis (GO:0060741)|proteoglycan biosynthetic process (GO:0030166)|Ras protein signal transduction (GO:0007265)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of multicellular organism growth (GO:0040014)|signal transduction (GO:0007165)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|skeletal system development (GO:0001501)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)|water homeostasis (GO:0030104)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|insulin-like growth factor binding protein complex (GO:0016942)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	hormone activity (GO:0005179)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|integrin binding (GO:0005178)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GGCAGGCTTGAGGGGTGCGCA	0.617																																						uc001tjp.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						c.(334-336)cTc>cCc		Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.							97.0	89.0	92.0					12																	102813354		2203	4300	6503	SO:0001583	missense	3479				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	g.chr12:102813354A>G	X00173	CCDS9091.1, CCDS44960.1, CCDS44961.1, CCDS44962.1	12q23.2	2014-09-16			ENSG00000017427	ENSG00000017427		"""Endogenous ligands"""	5464	protein-coding gene	gene with protein product		147440				2982726, 6358902	Standard	NM_001111283		Approved	IGF1A, IGFI, IGF-I	uc001tjp.4	P05019	OTTHUMG00000149910	ENST00000307046.8:c.335T>C	12.37:g.102813354A>G	ENSP00000302665:p.Leu112Pro					IGF1_uc001tjn.2_Missense_Mutation_p.L96P|IGF1_uc001tjm.2_Missense_Mutation_p.L112P|IGF1_uc001tjo.2_Missense_Mutation_p.L112P	p.L112P	NM_001111285	NP_001104755	P05019	IGF1_HUMAN			2	554	-			112			D.		B2RWM7|E9PD02|P01343|Q14620	Missense_Mutation	SNP	ENST00000307046.8	37	c.335T>C	CCDS44962.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307288	0.40795	.	.	ENSG00000017427	ENST00000456098;ENST00000337514;ENST00000392904;ENST00000424202;ENST00000392905;ENST00000307046	D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.85	5.85	0.93711	Insulin-like (2);	0.472689	0.22726	N	0.056382	D	0.83050	0.5170	L	0.27053	0.805	0.46774	D	0.999198	B;P;D;P	0.58620	0.03;0.951;0.983;0.944	B;P;P;P	0.53988	0.005;0.627;0.739;0.732	D	0.83671	0.0166	10	0.52906	T	0.07	-26.2095	10.562	0.45150	0.9284:0.0:0.0716:0.0	.	112;143;96;112	P05019;Q59GC5;Q14620;E9PD02	IGF1_HUMAN;.;.;.	P	112;112;112;96;93;112	ENSP00000394999:L112P;ENSP00000337612:L112P;ENSP00000376637:L112P;ENSP00000416811:L96P;ENSP00000376638:L93P;ENSP00000302665:L112P	ENSP00000302665:L112P	L	-	2	0	IGF1	101337484	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.034000	0.57289	2.234000	0.73211	0.533000	0.62120	CTC		0.617	IGF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313855.1	NM_000618	
RASAL1	8437	broad.mit.edu	37	12	113565893	113565893	+	Nonsense_Mutation	SNP	G	G	C	rs560024420		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:113565893G>C	ENST00000261729.5	-	4	528	c.213C>G	c.(211-213)taC>taG	p.Y71*	RASAL1_ENST00000546530.1_Nonsense_Mutation_p.Y71*|RASAL1_ENST00000548055.1_Nonsense_Mutation_p.Y71*|RASAL1_ENST00000446861.3_Nonsense_Mutation_p.Y71*|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	71	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CATCCAGCACGTAGAAGGCCA	0.607																																						uc001tun.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(211-213)taC>taG		Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.							257.0	251.0	253.0					12																	113565893		2203	4300	6503	SO:0001587	stop_gained	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565893G>C	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.213C>G	12.37:g.113565893G>C	ENSP00000261729:p.Tyr71*					RASAL1_uc010syp.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tul.3_Nonsense_Mutation_p.Y71*|RASAL1_uc001tum.2_Nonsense_Mutation_p.Y71*|RASAL1_uc010syq.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tuo.4_Nonsense_Mutation_p.Y71*|RASAL1_uc010syr.2_Nonsense_Mutation_p.Y71*	p.Y71*	NM_001193520	NP_001180449	O95294	RASL1_HUMAN			3	514	-			71			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Nonsense_Mutation	SNP	ENST00000261729.5	37	c.213C>G	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131927	0.94473	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	.	.	.	4.89	-4.54	0.03452	.	0.128004	0.53938	D	0.000047	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.5726	0.61856	0.7055:0.0:0.2945:0.0	.	.	.	.	X	71	.	ENSP00000261729:Y71X	Y	-	3	2	RASAL1	112050276	0.960000	0.32886	0.963000	0.40424	0.546000	0.35178	0.026000	0.13599	-0.837000	0.04223	-0.948000	0.02665	TAC		0.607	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658	
RB1	5925	broad.mit.edu	37	13	49033844	49033844	+	Missense_Mutation	SNP	C	C	T	rs121913299|rs137853294		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr13:49033844C>T	ENST00000267163.4	+	20	2119	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	661	Domain B.|Pocket; binds T and E1A.		R -> W (in RB; mild form). {ECO:0000269|PubMed:1352883, ECO:0000269|PubMed:7927327, ECO:0000269|PubMed:8776589, ECO:0000269|PubMed:9311732}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)|p.R661W(3)|p.L660fs*2(3)|p.R661fs*1(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGCCTATCTCCGGCTAAATAC	0.383		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		15740	0.0		0.0	False		,,,				2504	0.0					uc001vcb.3		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		33	Whole gene deletion(15)|Unknown(11)|Deletion - Frameshift(4)|Substitution - Missense(3)	p.0?(15)|p.?(11)|p.R661W(6)|p.L660fs*2(6)|p.R661fs*1(2)	bone(10)|lung(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|urinary_tract(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(1)|liver(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM920603	RB1	M	rs137853294	c.(1981-1983)Cgg>Tgg		Homo sapiens retinoblastoma 1 (RB1), mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						77.0	82.0	80.0					13																	49033844		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49033844C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1981C>T	13.37:g.49033844C>T	ENSP00000267163:p.Arg661Trp	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R661W	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	19	2147	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	661		R -> W (in RB; mild form).	Domain B.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.1981C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280853	0.80692	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.95482	-3.72	5.7	5.7	0.88788	Retinoblastoma-associated protein, B-box (1);Cyclin-like (3);	0.000000	0.64402	D	0.000001	D	0.98460	0.9487	M	0.93638	3.44	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99110	1.0846	9	0.87932	D	0	-7.7136	19.8339	0.96646	0.0:1.0:0.0:0.0	.	661	P06400	RB_HUMAN	W	640;661	ENSP00000267163:R661W	ENSP00000267163:R661W	R	+	1	2	RB1	47931845	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	4.597000	0.61062	2.698000	0.92095	0.585000	0.79938	CGG		0.383	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
OR10G2	26534	broad.mit.edu	37	14	22102746	22102746	+	Missense_Mutation	SNP	G	G	A	rs141025992	byFrequency	TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:22102746G>A	ENST00000542433.1	-	1	350	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	85			R -> L (in dbSNP:rs41314525).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AAAATAAGCCGAGGAACGGTG	0.527													.|||	2	0.000399361	0.0015	0.0	5008	,	,		21781	0.0		0.0	False		,,,				2504	0.0					uc010tmc.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(253-255)Cgg>Tgg		Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.		G	TRP/ARG	9,4397	15.5+/-35.6	0,9,2194	62.0	57.0	59.0		253	2.9	0.6	14	dbSNP_134	59	0,8600		0,0,4300	no	missense	OR10G2	NM_001005466.1	101	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	probably-damaging	85/311	22102746	9,12997	2203	4300	6503	SO:0001583	missense	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102746G>A		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.253C>T	14.37:g.22102746G>A	ENSP00000445383:p.Arg85Trp						p.R85W	NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	0	253	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	85		R -> L (in dbSNP:rs41314525).			B2RPD0	Missense_Mutation	SNP	ENST00000542433.1	37	c.253C>T	CCDS32047.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330866	0.24167	0.002043	0.0	ENSG00000255582	ENST00000542433	T	0.03301	3.98	3.79	2.88	0.33553	GPCR, rhodopsin-like superfamily (1);	0.197894	0.24848	N	0.035104	T	0.11707	0.0285	M	0.80982	2.52	0.09310	N	1	D	0.69078	0.997	P	0.55161	0.77	T	0.04360	-1.0957	10	0.87932	D	0	-3.183	8.5293	0.33324	0.0:0.0:0.5793:0.4206	.	85	Q8NGC3	O10G2_HUMAN	W	85	ENSP00000445383:R85W	ENSP00000445383:R85W	R	-	1	2	OR10G2	21172586	0.001000	0.12720	0.638000	0.29380	0.073000	0.16967	0.942000	0.29017	0.767000	0.33267	0.563000	0.77884	CGG		0.527	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1		
EAPP	55837	broad.mit.edu	37	14	35005432	35005432	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:35005432G>A	ENST00000250454.3	-	2	205	c.124C>T	c.(124-126)Cga>Tga	p.R42*		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	42					negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATGAGTTTTCGTTTTTGGTCA	0.318																																						uc001wsd.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12						c.(124-126)Cga>Tga		Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.							81.0	72.0	75.0					14																	35005432		1843	4095	5938	SO:0001587	stop_gained	55837				negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane		g.chr14:35005432G>A	AF217512	CCDS41941.1	14q13	2007-03-26	2007-03-26	2007-03-26		ENSG00000129518			19312	protein-coding gene	gene with protein product		609486	"""chromosome 14 open reading frame 11"""	C14orf11		15716352	Standard	NM_018453		Approved	BM036, FLJ20578	uc001wsd.1	Q56P03		ENST00000250454.3:c.124C>T	14.37:g.35005432G>A	ENSP00000250454:p.Arg42*						p.R42*	NM_018453	NP_060923	Q56P03	EAPP_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)	1	233	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		42					Q9BVF4|Q9NWV5|Q9NZ86	Nonsense_Mutation	SNP	ENST00000250454.3	37	c.124C>T	CCDS41941.1	.	.	.	.	.	.	.	.	.	.	G	36	5.876560	0.97055	.	.	ENSG00000129518	ENST00000250454;ENST00000554792	.	.	.	5.75	1.7	0.24286	.	0.053982	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6043	8.0257	0.30436	0.1268:0.0:0.643:0.2302	.	.	.	.	X	42;21	.	ENSP00000250454:R42X	R	-	1	2	EAPP	34075183	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.855000	0.48333	0.402000	0.25451	-0.140000	0.14226	CGA		0.318	EAPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409847.1	NM_018453	
SYNE3	161176	broad.mit.edu	37	14	95899695	95899695	+	Missense_Mutation	SNP	G	G	A	rs141951711		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:95899695G>A	ENST00000334258.5	-	15	2604	c.2590C>T	c.(2590-2592)Cgt>Tgt	p.R864C	SYNE3_ENST00000554873.1_Missense_Mutation_p.R621C|SYNE3_ENST00000557275.1_Missense_Mutation_p.R859C	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	864			R -> H (in dbSNP:rs17092216).		cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GGCCCGAGACGAAGGAGGTTC	0.597																																						uc001yei.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(2590-2592)Cgt>Tgt		Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	102.0	98.0	99.0		2590	4.8	0.8	14	dbSNP_134	99	0,8600		0,0,4300	no	missense	C14orf49	NM_152592.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	864/976	95899695	1,13005	2203	4300	6503	SO:0001583	missense	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95899695G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2590C>T	14.37:g.95899695G>A	ENSP00000334308:p.Arg864Cys					C14orf49_uc010avi.3_Missense_Mutation_p.R859C	p.R864C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	14	2605	-		all_cancers(154;0.0937)	864		R -> H (in dbSNP:rs17092216).			A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	ENST00000334258.5	37	c.2590C>T	CCDS9935.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143821	0.77888	2.27E-4	0.0	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275	T;T;T	0.16196	3.4;2.36;3.41	5.72	4.83	0.62350	.	0.725517	0.11939	N	0.514957	T	0.31358	0.0794	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.56474	0.799;0.634	T	0.01001	-1.1485	10	0.52906	T	0.07	-0.0119	11.8297	0.52288	0.0824:0.0:0.9176:0.0	.	859;864	Q6ZMZ3-2;Q6ZMZ3	.;SYNE3_HUMAN	C	864;621;859	ENSP00000334308:R864C;ENSP00000452154:R621C;ENSP00000450562:R859C	ENSP00000334308:R864C	R	-	1	0	C14orf49	94969448	0.942000	0.31987	0.829000	0.32907	0.900000	0.52787	1.714000	0.37961	1.414000	0.47017	0.655000	0.94253	CGT		0.597	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
RPS8P10	388076	broad.mit.edu	37	15	22440742	22440742	+	IGR	SNP	G	G	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr15:22440742G>T								RP11-2F9.4 (4565 upstream) : IGHV1OR15-1 (7639 downstream)																							CAGTCTTGGTGTTGGCAGCTG	0.562																																						uc001yuj.2																			0													Parts of antibodies, mostly variable regions.																																				SO:0001628	intergenic_variant	0							g.chr15:22440742G>T																													15.37:g.22440742G>T																-									Missense_Mutation	SNP		37																																																																																					0	0.562								
ARIH1	25820	broad.mit.edu	37	15	72767077	72767077	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr15:72767077G>A	ENST00000379887.4	+	1	411	c.97G>A	c.(97-99)Gac>Aac	p.D33N	RP11-1007O24.3_ENST00000565181.1_lincRNA	NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	33	Asp/Glu-rich (acidic).				cytokine-mediated signaling pathway (GO:0019221)|protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ubiquitin ligase complex (GO:0000151)	small conjugating protein ligase activity (GO:0019787)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						cgaagacgacgacgaGCCGGA	0.682																																						uc002aut.4																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						c.(97-99)Gac>Aac		Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA.							61.0	61.0	61.0					15																	72767077		2196	4297	6493	SO:0001583	missense	25820				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:72767077G>A	AF072832	CCDS10244.1	15q24	2013-10-03	2013-10-03		ENSG00000166233	ENSG00000166233			689	protein-coding gene	gene with protein product	"""ariadne, Drosophila, homolog of"""	605624	"""ariadne (Drosophila) homolog, ubiquitin-conjugating enzyme E2-binding protein, 1"", ""ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila)"""			10521492, 24058416	Standard	NM_005744		Approved	HARI, HHARI, UBCH7BP, ARI	uc002aut.4	Q9Y4X5	OTTHUMG00000133474	ENST00000379887.4:c.97G>A	15.37:g.72767077G>A	ENSP00000369217:p.Asp33Asn						p.D33N	NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN			0	411	+			33			Asp/Glu-rich (acidic).		B2R6U3|O76026|Q9H3T6|Q9UEN0|Q9UP39	Missense_Mutation	SNP	ENST00000379887.4	37	c.97G>A	CCDS10244.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245479	0.59103	.	.	ENSG00000166233	ENST00000379887	D	0.87029	-2.2	3.55	2.62	0.31277	.	0.160581	0.40144	N	0.001172	T	0.72128	0.3422	N	0.14661	0.345	0.23314	N	0.997925	B	0.22080	0.064	B	0.04013	0.001	T	0.57470	-0.7806	10	0.26408	T	0.33	.	7.3672	0.26781	0.13:0.0:0.87:0.0	.	33	Q9Y4X5	ARI1_HUMAN	N	33	ENSP00000369217:D33N	ENSP00000369217:D33N	D	+	1	0	ARIH1	70554131	0.999000	0.42202	0.989000	0.46669	0.991000	0.79684	4.218000	0.58554	0.587000	0.29643	0.549000	0.68633	GAC		0.682	ARIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257350.1	NM_005744	
ACSM2A	123876	broad.mit.edu	37	16	20492162	20492162	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:20492162G>A	ENST00000573854.1	+	12	1542	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_ENST00000575690.1_Silent_p.S476S|ACSM2A_ENST00000417235.2_Silent_p.S397S|ACSM2A_ENST00000219054.6_Silent_p.S476S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_Silent_p.S248S|ACSM2A_ENST00000396104.2_Silent_p.S476S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	476					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567																																						uc010bwe.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						c.(1426-1428)tcG>tcA		Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.							105.0	94.0	98.0					16																	20492162		2203	4299	6502	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20492162G>A	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1428G>A	16.37:g.20492162G>A						ACSM2A_uc010vax.1_Silent_p.S397S|ACSM2A_uc002dhf.4_Silent_p.S476S|ACSM2A_uc002dhg.4_Silent_p.S476S|ACSM2A_uc010vay.2_Silent_p.S397S|ACSM2A_uc002dhh.4_Silent_p.S106S	p.S476S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			12	1667	+			476					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1428G>A	CCDS32401.1																																																																																				0.567	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	
HS3ST4	9951	broad.mit.edu	37	16	26147419	26147419	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:26147419G>A	ENST00000331351.5	+	2	1613	c.1221G>A	c.(1219-1221)agG>agA	p.R407R	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	407					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GTGCCCCGAGGTGCTTAGGCA	0.473																																						uc002dof.3																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(1219-1221)agG>agA		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.							54.0	49.0	51.0					16																	26147419		1568	3582	5150	SO:0001819	synonymous_variant	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147419G>A	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.1221G>A	16.37:g.26147419G>A							p.R407R	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	1	1613	+			407					Q5QI42|Q8NDC2	Silent	SNP	ENST00000331351.5	37	c.1221G>A	CCDS53995.1																																																																																				0.473	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040	
SEZ6L2	26470	broad.mit.edu	37	16	29897033	29897033	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:29897033C>T	ENST00000308713.5	-	8	1773	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	SEZ6L2_ENST00000562159.1_5'Flank|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.V346M|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.V372M|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.V302M	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	416	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCATAGATCACGGGGGATAGG	0.612																																						uc010vec.2																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1246-1248)Gtg>Atg		Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.							56.0	52.0	54.0					16																	29897033		2197	4300	6497	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29897033C>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.1246G>A	16.37:g.29897033C>T	ENSP00000312550:p.Val416Met					BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.V346M|SEZ6L2_uc002dur.4_Missense_Mutation_p.V346M|SEZ6L2_uc002duq.4_Missense_Mutation_p.V416M|SEZ6L2_uc010ved.2_Missense_Mutation_p.V372M|SEZ6L2_uc002dus.4_Missense_Mutation_p.V302M	p.V416M	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN			7	1491	-			416			CUB 2.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.1246G>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.994671	0.54041	.	.	ENSG00000174938	ENST00000350527;ENST00000308713;ENST00000346932;ENST00000537485	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.85	4.88	0.63580	CUB (4);	0.145674	0.31636	N	0.007316	T	0.29914	0.0748	L	0.38175	1.15	0.26113	N	0.980652	P;P;P;P;P;P	0.51240	0.889;0.658;0.943;0.776;0.53;0.856	B;B;B;B;B;B	0.35182	0.197;0.04;0.115;0.088;0.025;0.135	T	0.38243	-0.9670	10	0.44086	T	0.13	.	7.2344	0.26062	0.0:0.6885:0.2181:0.0933	.	372;416;302;346;416;346	F5H293;B7Z5L4;Q9BW82;Q6UXD5-2;Q6UXD5;Q6UXD5-3	.;.;.;.;SE6L2_HUMAN;.	M	346;416;302;372	ENSP00000310206:V346M;ENSP00000312550:V416M;ENSP00000319215:V302M;ENSP00000439412:V372M	ENSP00000312550:V416M	V	-	1	0	SEZ6L2	29804534	0.849000	0.29639	0.967000	0.41034	0.984000	0.73092	1.213000	0.32407	2.785000	0.95823	0.645000	0.84053	GTG		0.612	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
LONP2	83752	broad.mit.edu	37	16	48303999	48303999	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:48303999G>A	ENST00000285737.4	+	7	1148	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	LONP2_ENST00000535754.1_Missense_Mutation_p.R308K	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTGAAGAAAAGAGTACTGGAA	0.443																																						uc002efi.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1054-1056)aGa>aAa		Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.							74.0	71.0	72.0					16																	48303999		2200	4300	6500	SO:0001583	missense	83752				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	g.chr16:48303999G>A	AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.1055G>A	16.37:g.48303999G>A	ENSP00000285737:p.Arg352Lys					MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.R308K	p.R352K	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN			6	1144	+			352						Missense_Mutation	SNP	ENST00000285737.4	37	c.1055G>A	CCDS10734.1	.	.	.	.	.	.	.	.	.	.	G	36	5.605076	0.96626	.	.	ENSG00000102910	ENST00000285737;ENST00000544734;ENST00000535754;ENST00000416006	T;T;T	0.41400	1.0;1.0;1.0	5.64	5.64	0.86602	.	0.092204	0.64402	D	0.000001	T	0.73598	0.3607	M	0.91717	3.235	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.80764	0.991;0.994	T	0.79553	-0.1756	10	0.87932	D	0	-24.4115	19.7174	0.96129	0.0:0.0:1.0:0.0	.	308;352	B7ZKL7;Q86WA8	.;LONP2_HUMAN	K	352;81;308;308	ENSP00000285737:R352K;ENSP00000445426:R308K;ENSP00000415983:R308K	ENSP00000285737:R352K	R	+	2	0	LONP2	46861500	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.837000	0.99465	2.653000	0.90120	0.655000	0.94253	AGA		0.443	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256839.2	NM_031490	
PMFBP1	83449	broad.mit.edu	37	16	72184650	72184650	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:72184650C>T	ENST00000237353.10	-	5	754	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	PMFBP1_ENST00000355636.6_Missense_Mutation_p.A20T|PMFBP1_ENST00000537465.1_Missense_Mutation_p.A165T	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	165						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCGGCCAAGGCGAGTTGCTCC	0.493																																						uc002fcc.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(493-495)Gcc>Acc		Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.							120.0	110.0	114.0					16																	72184650		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72184650C>T	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.493G>A	16.37:g.72184650C>T	ENSP00000237353:p.Ala165Thr					PMFBP1_uc002fcd.3_Missense_Mutation_p.A165T|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A20T	p.A165T	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN			4	665	-		Ovarian(137;0.179)	165					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.493G>A	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832987	0.91036	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.78246	-1.16;-1.16;1.93	6.17	4.17	0.49024	.	0.252473	0.28635	N	0.014649	T	0.56529	0.1991	N	0.24115	0.695	0.25731	N	0.985263	P;P;P	0.48350	0.909;0.861;0.861	B;B;B	0.35182	0.197;0.173;0.173	T	0.50874	-0.8776	10	0.24483	T	0.36	-2.7548	7.9693	0.30117	0.1579:0.7617:0.0:0.0804	.	165;165;165	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	T	165;165;20	ENSP00000443817:A165T;ENSP00000237353:A165T;ENSP00000347854:A20T	ENSP00000237353:A165T	A	-	1	0	PMFBP1	70742151	0.987000	0.35691	0.997000	0.53966	0.992000	0.81027	1.548000	0.36201	1.630000	0.50440	0.655000	0.94253	GCC		0.493	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	NM_031293	
TP53	7157	broad.mit.edu	37	17	7578440	7578440	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:7578440T>C	ENST00000269305.4	-	5	679	c.490A>G	c.(490-492)Aag>Gag	p.K164E	TP53_ENST00000413465.2_Missense_Mutation_p.K164E|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.K164E|TP53_ENST00000455263.2_Missense_Mutation_p.K164E|TP53_ENST00000359597.4_Missense_Mutation_p.K164E|TP53_ENST00000445888.2_Missense_Mutation_p.K164E	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	164	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K164E(15)|p.K164*(11)|p.0?(8)|p.K164Q(2)|p.K164fs*6(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.K164fs*5(1)|p.K71E(1)|p.K164fs*17(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.K32E(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGTGACTGCTTGTAGATGGCC	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		51	Substitution - Missense(19)|Substitution - Nonsense(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(1)	p.Y163C(112)|p.K164E(28)|p.K164*(22)|p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163*(7)|p.K164N(6)|p.Y163S(5)|p.K164M(4)|p.K164Q(4)|p.K164fs*6(4)|p.K164fs*3(4)|p.Y163fs*1(3)|p.Y163Y(3)|p.Y163D(3)|p.K164fs*5(3)|p.V157_C176del20(2)|p.Y163_Q165delYKQ(2)|p.P151_V173del23(2)|p.Y163fs*7(2)|p.K164T(2)|p.K164fs*17(2)|p.K164K(2)|p.Y163fs*14(2)|p.A159_Q167delAMAIYKQSQ(2)|p.I162_Y163>N(1)|p.K164_P219del(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.I162_Y163delIY(1)|p.K71E(1)|p.K164R(1)|p.K32E(1)|p.Y163fs*18(1)	lung(12)|central_nervous_system(6)|bone(5)|urinary_tract(4)|breast(4)|oesophagus(4)|upper_aerodigestive_tract(3)|large_intestine(3)|ovary(3)|liver(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(490-492)Aag>Gag	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							54.0	54.0	54.0					17																	7578440		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578440T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.490A>G	17.37:g.7578440T>C	ENSP00000269305:p.Lys164Glu	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.K164E|TP53_uc002gih.3_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E|TP53_uc010vug.2_Missense_Mutation_p.K125E	p.K164E	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	684	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	164		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.490A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195088	0.58017	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74;-6.74	5.59	4.5	0.54988	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	M	0.62088	1.915	0.58432	D	0.999992	D;D;D;D;D;P;D	0.89917	0.986;0.996;0.965;0.998;0.997;0.95;1.0	D;D;P;D;D;P;D	0.85130	0.934;0.952;0.76;0.98;0.972;0.9;0.997	D	0.98302	1.0519	10	0.87932	D	0	-15.5455	10.4804	0.44689	0.1456:0.0:0.0:0.8544	.	125;164;164;71;164;164;164	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	164;164;164;164;164;164;153;71;32;71;32;164	ENSP00000410739:K164E;ENSP00000352610:K164E;ENSP00000269305:K164E;ENSP00000398846:K164E;ENSP00000391127:K164E;ENSP00000391478:K164E;ENSP00000425104:K32E;ENSP00000423862:K71E;ENSP00000424104:K164E	ENSP00000269305:K164E	K	-	1	0	TP53	7519165	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.996000	0.88334	1.039000	0.40074	-0.336000	0.08194	AAG		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYOCD	93649	broad.mit.edu	37	17	12655804	12655804	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:12655804G>A	ENST00000343344.4	+	10	1199	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	AC005358.1_ENST00000609971.1_Missense_Mutation_p.R304Q|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000425538.1_Missense_Mutation_p.R400Q			Q8IZQ8	MYCD_HUMAN	myocardin	400	SAP. {ECO:0000255|PROSITE- ProRule:PRU00186}.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCATGGACCGGCTTCGACCC	0.507																																						uc002gno.2																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1198-1200)cGg>cAg		Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.							81.0	80.0	80.0					17																	12655804		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12655804G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1199G>A	17.37:g.12655804G>A	ENSP00000341835:p.Arg400Gln					MYOCD_uc002gnn.2_Missense_Mutation_p.R400Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R304Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R119Q	p.R400Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	9	1498	+			400			SAP.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1199G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	36	5.648487	0.96714	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	D;D	0.87809	-2.27;-2.3	5.78	5.78	0.91487	DNA-binding SAP (4);	0.000000	0.85682	D	0.000000	D	0.94958	0.8369	M	0.90425	3.115	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;1.0;1.0	D	0.95392	0.8482	10	0.87932	D	0	-33.8002	18.7674	0.91879	0.0:0.0:1.0:0.0	.	119;304;400;400	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	Q	119;400;400;304;105	ENSP00000341835:R400Q;ENSP00000400148:R105Q	ENSP00000341835:R400Q	R	+	2	0	MYOCD	12596529	1.000000	0.71417	0.940000	0.37924	0.995000	0.86356	9.807000	0.99171	2.731000	0.93534	0.591000	0.81541	CGG		0.507	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604	
KRT12	3859	broad.mit.edu	37	17	39019850	39019850	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:39019850G>A	ENST00000251643.4	-	5	1005	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	RP5-1110E20.1_ENST00000579136.1_RNA	NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	328	Coil 2.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	ATCTCCTTACGGAGCTCCCCG	0.567																																						uc002hvk.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(982-984)Cgt>Tgt		Homo sapiens keratin 12 (KRT12), mRNA.							75.0	66.0	69.0					17																	39019850		2203	4300	6503	SO:0001583	missense	3859				visual perception	intermediate filament	structural molecule activity	g.chr17:39019850G>A		CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.982C>T	17.37:g.39019850G>A	ENSP00000251643:p.Arg328Cys						p.R328C	NM_000223	NP_000214	Q99456	K1C12_HUMAN			4	1006	-		Breast(137;0.000301)	328			Coil 2.|Rod.		B2R9E0	Missense_Mutation	SNP	ENST00000251643.4	37	c.982C>T	CCDS11378.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482921	0.63962	.	.	ENSG00000187242	ENST00000251643	T	0.78595	-1.19	5.44	-1.34	0.09143	Filament (1);	0.114803	0.38778	N	0.001576	T	0.78065	0.4225	L	0.37561	1.115	0.09310	N	0.999999	D	0.76494	0.999	P	0.57679	0.825	T	0.76138	-0.3069	10	0.87932	D	0	.	16.2623	0.82552	0.0:0.0:0.559:0.441	.	328	Q99456	K1C12_HUMAN	C	328	ENSP00000251643:R328C	ENSP00000251643:R328C	R	-	1	0	KRT12	36273376	0.000000	0.05858	0.195000	0.23364	0.951000	0.60555	-0.200000	0.09478	-0.610000	0.05716	-0.448000	0.05591	CGT		0.567	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257214.2	NM_000223	
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	A	-			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:45219612delA	ENST00000066544.3	-	11	1454	c.1361delT	c.(1360-1362)ctafs	p.L454fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.L454fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.L460fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.L393fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	454					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308																																						uc002ile.4																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1378-1380)ctafs		Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.							30.0	30.0	30.0					17																	45219612		2201	4295	6496	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219612delA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1361delT	17.37:g.45219612delA	ENSP00000066544:p.Leu454fs					CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	p.L460fs	NM_001114091	NP_001107563	P30260	CDC27_HUMAN			10	1506	-			454	Missing (in Ref. 1; AAA60471).				G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1379delT	CCDS11509.1																																																																																				0.308	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
COL1A1	1277	broad.mit.edu	37	17	48275131	48275131	+	Nonsense_Mutation	SNP	G	G	A	rs72667036		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:48275131G>A	ENST00000225964.5	-	9	776	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	220	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R220*(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GGGGGACCTCGGGGACCCATG	0.507			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.3				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	1	Substitution - Nonsense(1)	p.R220*(2)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71	GRCh37	CM980389	COL1A1	M	rs72667036	c.(658-660)Cga>Tga		Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	Collagenase(DB00048)|Palifermin(DB00039)						77.0	88.0	84.0					17																	48275131		2202	4300	6502	SO:0001587	stop_gained	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48275131G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.658C>T	17.37:g.48275131G>A	ENSP00000225964:p.Arg220*						p.R220*	NM_000088	NP_000079	P02452	CO1A1_HUMAN			8	784	-			220			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Nonsense_Mutation	SNP	ENST00000225964.5	37	c.658C>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	G	39	7.441965	0.98286	.	.	ENSG00000108821	ENST00000225964	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0174	0.86423	0.0:0.0:1.0:0.0	.	.	.	.	X	220	.	ENSP00000225964:R220X	R	-	1	2	COL1A1	45630130	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.758000	0.98927	2.357000	0.79964	0.655000	0.94253	CGA		0.507	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
ABCA6	23460	broad.mit.edu	37	17	67098976	67098976	+	Splice_Site	SNP	C	C	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:67098976C>A	ENST00000284425.2	-	21	3048	c.2874G>T	c.(2872-2874)aaG>aaT	p.K958N		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	958					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCAAACATACCTTTTGTTTAC	0.313																																						uc002jhw.1																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.e21+1		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.							76.0	70.0	72.0					17																	67098976		2202	4289	6491	SO:0001630	splice_region_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67098976C>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2874+1G>T	17.37:g.67098976C>A							p.K958_splice	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			21	3049	-	Breast(10;5.65e-12)		958					Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.2874_splice	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745454	0.49151	.	.	ENSG00000154262	ENST00000284425	D	0.87179	-2.22	5.02	2.99	0.34606	.	0.239357	0.28883	N	0.013821	D	0.90597	0.7052	M	0.87682	2.9	0.80722	D	1	P	0.45176	0.852	P	0.52343	0.696	D	0.89126	0.3506	9	.	.	.	.	7.4774	0.27385	0.0:0.733:0.0:0.267	.	958	Q8N139	ABCA6_HUMAN	N	958	ENSP00000284425:K958N	.	K	-	3	2	ABCA6	64610571	1.000000	0.71417	0.969000	0.41365	0.697000	0.40408	1.492000	0.35594	0.801000	0.34066	0.462000	0.41574	AAG		0.313	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	Missense_Mutation
SDK2	54549	broad.mit.edu	37	17	71426663	71426663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:71426663G>A	ENST00000392650.3	-	12	1570	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.R524*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	524	Ig-like C2-type 6.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATGGTTACTCGGGGGTCGTGG	0.602																																						uc010dfm.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						c.(1570-1572)Cga>Tga		Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.							46.0	35.0	38.0					17																	71426663		2203	4300	6503	SO:0001587	stop_gained	54549				cell adhesion	integral to membrane		g.chr17:71426663G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1570C>T	17.37:g.71426663G>A	ENSP00000376421:p.Arg524*					SDK2_uc010dfn.2_Nonsense_Mutation_p.R203*	p.R524*	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			11	1570	-			524			Ig-like C2-type 6.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Nonsense_Mutation	SNP	ENST00000392650.3	37	c.1570C>T	CCDS45769.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.260587|5.260587	0.95368|0.95368	.|.	.|.	ENSG00000069188|ENSG00000069188	ENST00000416616|ENST00000409227;ENST00000392650;ENST00000388726;ENST00000316893	.|.	.|.	.|.	3.89|3.89	1.23|1.23	0.21249|0.21249	.|.	.|0.055057	.|0.64402	.|D	.|0.000001	T|.	0.32941|.	0.0846|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.38045|.	-0.9679|.	4|.	0.72032|0.11485	D|T	0.01|0.65	.|.	10.0903|10.0903	0.42443|0.42443	0.0:0.0:0.3117:0.6883|0.0:0.0:0.3117:0.6883	.|.	.|.	.|.	.|.	L|X	428|148;524;524;524	.|.	ENSP00000400371:P428L|ENSP00000324967:R524X	P|R	-|-	2|1	0|2	SDK2|SDK2	68938258|68938258	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.120000|0.120000	0.20174|0.20174	3.393000|3.393000	0.52544|0.52544	0.685000|0.685000	0.31468|0.31468	0.462000|0.462000	0.41574|0.41574	CCG|CGA		0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
CELF4	56853	broad.mit.edu	37	18	34853005	34853005	+	Missense_Mutation	SNP	G	G	A	rs372830155		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr18:34853005G>A	ENST00000591282.1	-	7	922	c.923C>T	c.(922-924)gCg>gTg	p.A308V	CELF4_ENST00000591287.1_Missense_Mutation_p.A307V|CELF4_ENST00000601019.1_Missense_Mutation_p.A306V|CELF4_ENST00000588597.1_Missense_Mutation_p.A297V|CELF4_ENST00000334919.5_Missense_Mutation_p.A298V|CELF4_ENST00000603232.1_Missense_Mutation_p.A307V|CELF4_ENST00000412753.1_Missense_Mutation_p.A307V|CELF4_ENST00000361795.5_Missense_Mutation_p.A306V|CELF4_ENST00000420428.2_Missense_Mutation_p.A308V|RP11-797E24.3_ENST00000586610.1_RNA|RP11-797E24.3_ENST00000588766.1_RNA			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	308	Ala-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)	p.A308V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGGTGCGGCCGCCAGGCCATT	0.652																																						uc002lae.2																			1	Substitution - Missense(1)	p.A308V(2)	ovary(1)	breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						c.(922-924)gCg>gTg		Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	28.0	31.0	30.0		920,917,893,923	5.2	1.0	18		30	2,8594		0,2,4296	no	missense,missense,missense,missense	CELF4	NM_001025087.1,NM_001025088.1,NM_001025089.1,NM_020180.3	64,64,64,64	0,2,6499	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign,benign	307/486,306/485,298/449,308/487	34853005	2,13000	2203	4298	6501	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34853005G>A	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.923C>T	18.37:g.34853005G>A	ENSP00000464794:p.Ala308Val					CELF4_uc021uix.1_Missense_Mutation_p.A306V|CELF4_uc021uiy.1_Missense_Mutation_p.A307V|CELF4_uc002lag.2_Missense_Mutation_p.A298V|CELF4_uc002laf.2_Missense_Mutation_p.A303V|CELF4_uc002lai.2_Missense_Mutation_p.A293V|CELF4_uc002lah.2_Missense_Mutation_p.A33V|CELF4_uc002laj.1_Silent_p.G143G	p.A308V	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			6	1319	-			308			Ala-rich.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.923C>T	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.905577	0.33628	0.0	2.33E-4	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T;T	0.75260	-0.92;-0.87;-0.92	5.22	5.22	0.72569	Nucleotide-binding, alpha-beta plait (1);	0.160554	0.56097	D	0.000030	T	0.56016	0.1957	N	0.03948	-0.315	0.47778	D	0.999515	B;B;B;B;B;B	0.28998	0.0;0.001;0.23;0.172;0.0;0.001	B;B;B;B;B;B	0.30495	0.002;0.0;0.116;0.023;0.002;0.002	T	0.55444	-0.8140	10	0.27785	T	0.31	-7.6448	18.9627	0.92682	0.0:0.0:1.0:0.0	.	306;297;33;298;307;308	Q9BZC1-3;B4DHA8;A0PK06;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;.;.;CELF4_HUMAN	V	308;307;306;298	ENSP00000355089:A308V;ENSP00000406823:A307V;ENSP00000335631:A298V	ENSP00000335631:A298V	A	-	2	0	CELF4	33107003	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.336000	0.59304	2.715000	0.92844	0.655000	0.94253	GCG		0.652	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180	
MUC16	94025	broad.mit.edu	37	19	9067037	9067037	+	Silent	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:9067037A>G	ENST00000397910.4	-	3	20612	c.20409T>C	c.(20407-20409)tcT>tcC	p.S6803S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6805	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATCAGGGAAGAGGAGAAGC	0.473																																						uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(20407-20409)tcT>tcC		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							138.0	142.0	141.0					19																	9067037		2095	4228	6323	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067037A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20409T>C	19.37:g.9067037A>G							p.S6803S	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	20613	-			6805			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.20409T>C	CCDS54212.1																																																																																				0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
COLGALT1	79709	broad.mit.edu	37	19	17679388	17679388	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:17679388C>T	ENST00000252599.4	+	5	815	c.695C>T	c.(694-696)cCc>cTc	p.P232L	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	232					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										TTTGCAGTTCCCATGGTGCAC	0.617																																						uc002nhc.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(694-696)cCc>cTc		Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.							161.0	122.0	136.0					19																	17679388		2203	4300	6503	SO:0001583	missense	79709				lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity	g.chr19:17679388C>T	AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.695C>T	19.37:g.17679388C>T	ENSP00000252599:p.Pro232Leu					GLT25D1_uc010eax.1_5'UTR	p.P232L	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN			4	707	+			232					Q8NC64	Missense_Mutation	SNP	ENST00000252599.4	37	c.695C>T	CCDS12363.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118283	0.94385	.	.	ENSG00000130309	ENST00000252599	T	0.24538	1.85	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.93638	3.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72037	-0.4411	10	0.56958	D	0.05	-10.3281	15.8686	0.79091	0.0:1.0:0.0:0.0	.	232	Q8NBJ5	GT251_HUMAN	L	232	ENSP00000252599:P232L	ENSP00000252599:P232L	P	+	2	0	GLT25D1	17540388	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.670000	0.83925	2.356000	0.79943	0.491000	0.48974	CCC		0.617	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464216.1	NM_024656	
RSPH6A	81492	broad.mit.edu	37	19	46318327	46318327	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:46318327C>T	ENST00000221538.3	-	1	250	c.108G>A	c.(106-108)ctG>ctA	p.L36L	SYMPK_ENST00000598155.1_5'Flank|RSPH6A_ENST00000597055.1_Silent_p.L36L	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	36						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTCCGCTGCCAGGGCCTGAG	0.687																																						uc002pdm.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(106-108)ctG>ctA		Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.							32.0	34.0	34.0					19																	46318327		2203	4300	6503	SO:0001819	synonymous_variant	81492					intracellular		g.chr19:46318327C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.108G>A	19.37:g.46318327C>T							p.L36L	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			0	279	-			36					Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	c.108G>A	CCDS12675.1																																																																																				0.687	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1		
SHANK1	50944	broad.mit.edu	37	19	51205808	51205808	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:51205808G>A	ENST00000293441.1	-	11	1681	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S	SHANK1_ENST00000359082.3_Missense_Mutation_p.P555S|SHANK1_ENST00000391814.1_Missense_Mutation_p.P555S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	555	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGCGTCCGGGTACCGCTGAG	0.697																																						uc002psx.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1663-1665)Ccc>Tcc		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.							48.0	38.0	42.0					19																	51205808		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51205808G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1663C>T	19.37:g.51205808G>A	ENSP00000293441:p.Pro555Ser						p.P555S	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	10	1682	-		all_neural(266;0.057)	555			SH3.		A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1663C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	g	13.59	2.281994	0.40394	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.13778	2.56;2.56;2.56	3.55	3.55	0.40652	Src homology-3 domain (2);	0.000000	0.64402	U	0.000004	T	0.30947	0.0781	L	0.58302	1.8	0.80722	D	1	D	0.67145	0.996	D	0.65140	0.932	T	0.09552	-1.0669	10	0.87932	D	0	-14.9361	15.0802	0.72108	0.0:0.0:1.0:0.0	.	555	Q9Y566	SHAN1_HUMAN	S	555	ENSP00000293441:P555S;ENSP00000351984:P555S;ENSP00000375690:P555S	ENSP00000293441:P555S	P	-	1	0	SHANK1	55897620	1.000000	0.71417	0.155000	0.22561	0.635000	0.38103	8.523000	0.90576	2.286000	0.76751	0.555000	0.69702	CCC		0.697	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
GPR32	2854	broad.mit.edu	37	19	51274077	51274077	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:51274077C>T	ENST00000270590.4	+	1	357	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	74					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTATGGCACGCACGGTCTC	0.572																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	uc010ycf.2																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(220-222)Cgc>Tgc		Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.							214.0	162.0	179.0					19																	51274077		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274077C>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.220C>T	19.37:g.51274077C>T	ENSP00000270590:p.Arg74Cys						p.R74C	NM_001506	NP_001497	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	0	220	+		all_neural(266;0.131)	74					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.220C>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398315	0.25205	.	.	ENSG00000142511	ENST00000270590	T	0.46063	0.88	2.73	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.41143	0.1146	M	0.67569	2.06	0.36230	D	0.852559	P	0.45827	0.867	P	0.45794	0.493	T	0.50145	-0.8862	9	0.87932	D	0	.	3.9854	0.09513	0.2298:0.6285:0.0:0.1417	.	74	O75388	GPR32_HUMAN	C	74	ENSP00000270590:R74C	ENSP00000270590:R74C	R	+	1	0	GPR32	55965889	0.941000	0.31946	0.003000	0.11579	0.219000	0.24729	2.347000	0.44036	0.419000	0.25927	0.313000	0.20887	CGC		0.572	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1		
TTYH1	57348	broad.mit.edu	37	19	54947301	54947304	+	Frame_Shift_Del	DEL	TCTA	TCTA	-			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:54947301_54947304delTCTA	ENST00000376530.3	+	13	1448_1451	c.1345_1348delTCTA	c.(1345-1350)tctatcfs	p.SI449fs	TTYH1_ENST00000489425.1_3'UTR|CTD-2587H19.2_ENST00000596631.1_RNA|TTYH1_ENST00000301194.4_Frame_Shift_Del_p.SI450fs|TTYH1_ENST00000391739.3_3'UTR|AC008746.3_ENST00000457113.1_RNA|CTD-2587H19.3_ENST00000597355.1_lincRNA|AC008746.12_ENST00000599382.1_lincRNA|TTYH1_ENST00000376531.3_Frame_Shift_Del_p.RL433fs	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	449					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGGCAGTCGTCTATCTGAGCCCC	0.642																																						uc002qfr.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1297-1302)cgtctafs		Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54947301_54947304delTCTA	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.1345_1348delTCTA	19.37:g.54947301_54947304delTCTA	ENSP00000365713:p.Ser449fs					TTYH1_uc010yey.2_3'UTR|TTYH1_uc002qfq.3_Frame_Shift_Del_p.S449fs|TTYH1_uc002qft.3_Frame_Shift_Del_p.S450fs	p.R433fs	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	11	1421_1424	+	Ovarian(34;0.19)		0			Poly-Asp.		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Frame_Shift_Del	DEL	ENST00000376530.3	37	c.1299_1302delTCTA	CCDS12893.1																																																																																				0.642	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1		
SBK2	646643	broad.mit.edu	37	19	56047417	56047417	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:56047417C>T	ENST00000413299.1	-	2	282	c.245G>A	c.(244-246)cGt>cAt	p.R82H	SBK2_ENST00000344158.3_Missense_Mutation_p.R82H	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	82	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACCTTTCTGACGATGGGTGAC	0.682																																						uc010ygc.2																			0				endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(244-246)cGt>cAt		Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.							34.0	36.0	35.0					19																	56047417		1998	4154	6152	SO:0001583	missense	646643						ATP binding|protein serine/threonine kinase activity	g.chr19:56047417C>T		CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.245G>A	19.37:g.56047417C>T	ENSP00000389015:p.Arg82His						p.R82H	NM_001101401	NP_001094871	P0C263	SBK2_HUMAN			1	260	-			82			Protein kinase.			Missense_Mutation	SNP	ENST00000413299.1	37	c.245G>A	CCDS42631.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539014	0.45176	.	.	ENSG00000187550	ENST00000413299;ENST00000344158	T;T	0.66280	-0.2;-0.2	4.6	3.55	0.40652	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.123006	0.51477	D	0.000091	T	0.57095	0.2030	M	0.76002	2.32	0.21697	N	0.999586	P	0.40553	0.721	B	0.37888	0.26	T	0.57476	-0.7805	10	0.62326	D	0.03	-8.0204	5.9994	0.19511	0.1908:0.7111:0.0:0.0981	.	82	P0C263	SBK2_HUMAN	H	82	ENSP00000389015:R82H;ENSP00000345044:R82H	ENSP00000345044:R82H	R	-	2	0	SBK2	60739229	.	.	0.229000	0.23960	0.800000	0.45204	.	.	1.041000	0.40125	0.462000	0.41574	CGT		0.682	SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401	
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																						uc010yva.2																			13	Substitution - Missense(13)	p.T998S(13)	kidney(6)|endometrium(4)|prostate(3)	endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2992-2994)Aca>Tca		Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.							37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248							g.chr2:97869931A>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser					ANKRD36_uc002sxp.3_Non-coding_Transcript	p.T998S	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			49	3236	+			998					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2992A>T	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5		
MCM6	4175	broad.mit.edu	37	2	136630288	136630288	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr2:136630288G>C	ENST00000264156.2	-	2	293	c.233C>G	c.(232-234)aCc>aGc	p.T78S		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	78					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		CTCTTGAATGGTGGTGGAAAG	0.413																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29						c.(232-234)aCc>aGc		Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	Atorvastatin(DB01076)						157.0	149.0	152.0					2																	136630288		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136630288G>C		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.233C>G	2.37:g.136630288G>C	ENSP00000264156:p.Thr78Ser						p.T78S	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	1	309	-			78					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.233C>G	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.884818	0.72410	.	.	ENSG00000076003	ENST00000264156	T	0.10860	2.83	5.85	5.85	0.93711	Nucleic acid-binding, OB-fold-like (1);	0.046035	0.85682	D	0.000000	T	0.14056	0.0340	L	0.45581	1.43	0.80722	D	1	B	0.18166	0.026	B	0.19946	0.027	T	0.08066	-1.0740	10	0.25751	T	0.34	-13.5459	20.1731	0.98165	0.0:0.0:1.0:0.0	.	78	Q14566	MCM6_HUMAN	S	78	ENSP00000264156:T78S	ENSP00000264156:T78S	T	-	2	0	MCM6	136346758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.783000	0.99037	2.768000	0.95171	0.655000	0.94253	ACC		0.413	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	
HCK	3055	broad.mit.edu	37	20	30672225	30672225	+	Silent	SNP	G	G	A	rs147876395		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr20:30672225G>A	ENST00000520553.1	+	8	897	c.651G>A	c.(649-651)tcG>tcA	p.S217S	HCK_ENST00000375862.2_Silent_p.S237S|HCK_ENST00000538448.1_Silent_p.S217S|HCK_ENST00000375852.2_Silent_p.S238S|HCK_ENST00000518730.1_Silent_p.S216S|HCK_ENST00000534862.1_Silent_p.S218S	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	238	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)	p.S217S(1)		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)	AGAAACTGTCGGTGCCCTGCA	0.587																																						uc002wxh.3																			1	Substitution - coding silent(1)	p.S217S(1)	central_nervous_system(1)	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.(712-714)tcG>tcA		Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.		G	,,,,,	1,4405	2.1+/-5.4	0,1,2202	49.0	47.0	48.0		651,711,648,654,651,714	-9.5	0.8	20	dbSNP_134	48	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	HCK	NM_001172129.1,NM_001172130.1,NM_001172131.1,NM_001172132.1,NM_001172133.1,NM_002110.3	,,,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,,,	217/506,237/526,216/505,218/507,217/506,238/527	30672225	1,13005	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.chr20:30672225G>A	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.651G>A	20.37:g.30672225G>A						HCK_uc010gdy.3_Silent_p.S218S|HCK_uc021wbv.1_Silent_p.S217S|HCK_uc002wxi.3_Silent_p.S216S	p.S238S	NM_001172133	NP_001165604	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	951	+			238			SH2.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.714G>A	CCDS54455.1																																																																																				0.587	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		
RIMBP3	85376	broad.mit.edu	37	22	20458191	20458191	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr22:20458191G>A	ENST00000426804.1	-	1	3595	c.3111C>T	c.(3109-3111)ggC>ggT	p.G1037G	SCARNA17_ENST00000516762.1_RNA|RN7SKP131_ENST00000363006.1_RNA|SCARNA18_ENST00000516215.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1037	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGCAGCTCACGCCCGCTGGGG	0.642																																						uc002zsd.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(3109-3111)ggC>ggT		Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.																																				SO:0001819	synonymous_variant	85376							g.chr22:20458191G>A	AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3111C>T	22.37:g.20458191G>A						RN7SK_uc021wlw.1_5'Flank	p.G1037G	NM_015672	NP_056487			LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)		0	3596	-	Colorectal(54;0.0993)|Melanoma(16;0.165)							Q8IYP7|Q9BY94|Q9UFQ5	Silent	SNP	ENST00000426804.1	37	c.3111C>T	CCDS46665.1																																																																																				0.642	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672	
CSF2RB	1439	broad.mit.edu	37	22	37326752	37326752	+	Missense_Mutation	SNP	G	G	A	rs576486802	byFrequency	TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr22:37326752G>A	ENST00000403662.3	+	8	1114	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	CSF2RB_ENST00000406230.1_Missense_Mutation_p.G304S|CSF2RB_ENST00000262825.5_Missense_Mutation_p.G304S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.G245S			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	298					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGGGGCTCGGCAGCCTCCA	0.647													G|||	4	0.000798722	0.0	0.0	5008	,	,		16639	0.0		0.0	False		,,,				2504	0.0041					uc003aqa.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42						c.(892-894)Ggc>Agc		Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	Sargramostim(DB00020)						46.0	41.0	43.0					22																	37326752		2203	4300	6503	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37326752G>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.892G>A	22.37:g.37326752G>A	ENSP00000384053:p.Gly298Ser					CSF2RB_uc003aqc.4_Missense_Mutation_p.G304S	p.G298S	NM_000395	NP_000386	P32927	IL3RB_HUMAN			7	1109	+			298					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.892G>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	G	4.764	0.142053	0.09083	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230;ENST00000421539;ENST00000536485	D;D;D;T;D	0.83914	-1.78;-1.78;-1.78;0.06;-1.78	5.36	-10.7	0.00240	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	1.633610	0.03994	N	0.295401	T	0.60274	0.2256	N	0.08118	0	0.09310	N	1	B;B	0.26845	0.161;0.076	B;B	0.19148	0.02;0.024	T	0.56535	-0.7963	10	0.22706	T	0.39	0.4652	8.06	0.30627	0.1926:0.325:0.4228:0.0596	.	304;298	P32927-2;P32927	.;IL3RB_HUMAN	S	298;298;304;304;218;245	ENSP00000384053:G298S;ENSP00000262825:G304S;ENSP00000385271:G304S;ENSP00000393585:G218S;ENSP00000440003:G245S	ENSP00000262825:G304S	G	+	1	0	CSF2RB	35656698	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-3.730000	0.00381	-5.588000	0.00012	-1.697000	0.00723	GGC		0.647	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1	NM_000395	
SCN10A	6336	broad.mit.edu	37	3	38755494	38755494	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:38755494G>A	ENST00000449082.2	-	21	3758	c.3759C>T	c.(3757-3759)cgC>cgT	p.R1253R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1253					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GCCGCAGAGCGCGAAGGGTTC	0.527																																						uc003ciq.3																			0				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(3757-3759)cgC>cgT		Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						89.0	91.0	90.0					3																	38755494		2203	4300	6503	SO:0001819	synonymous_variant	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38755494G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.3759C>T	3.37:g.38755494G>A							p.R1253R	NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	20	3759	-			1253					A6NDQ1	Silent	SNP	ENST00000449082.2	37	c.3759C>T	CCDS33736.1																																																																																				0.527	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
SCN11A	11280	broad.mit.edu	37	3	38913127	38913128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:38913127_38913128insC	ENST00000302328.3	-	21	3765_3766	c.3567_3568insG	c.(3565-3570)tggctcfs	p.L1190fs	SCN11A_ENST00000450244.1_Frame_Shift_Ins_p.L1190fs|SCN11A_ENST00000456224.3_Frame_Shift_Ins_p.L1152fs|SCN11A_ENST00000444237.2_Frame_Shift_Ins_p.L1190fs	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1190					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CAAAATACGAGCCAGAAAATGA	0.361																																						uc021wvy.1																			0				NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(3565-3570)tggctcfs		Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	Cocaine(DB00907)																																			SO:0001589	frameshift_variant	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38913127_38913128insC	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3568dupG	3.37:g.38913129_38913129dupC	ENSP00000307599:p.Leu1190fs						p.W1189fs	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	20	3766_3767	-			1189					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Frame_Shift_Ins	INS	ENST00000302328.3	37	c.3567_3568insG	CCDS33737.1																																																																																				0.361	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	
GNB4	59345	broad.mit.edu	37	3	179137188	179137189	+	Splice_Site	INS	-	-	G	rs35612039		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:179137188_179137189insG	ENST00000232564.3	-	4	487_488	c.201_202insC	c.(199-204)tccagg>tccCagg	p.R68fs	GNB4_ENST00000468623.1_Splice_Site_p.R68fs	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	68					cell death (GO:0008219)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GGTACAAACCTGGAATCGTATC	0.361																																					Melanoma(105;1405 1491 7265 20440 33721)	uc003fjv.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16						c.e4+1		Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.																																				SO:0001630	splice_region_variant	59345				cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity	g.chr3:179137188_179137189insG	AF300648	CCDS3230.1	3q27.1	2013-01-10			ENSG00000114450	ENSG00000114450		"""WD repeat domain containing"""	20731	protein-coding gene	gene with protein product		610863				10644457, 11842130	Standard	NM_021629		Approved		uc003fjv.4	Q9HAV0	OTTHUMG00000157440	ENST00000232564.3:c.203+1->C	3.37:g.179137190_179137190dupG						GNB4_uc003fju.4_5'Flank	p.R68_splice	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)		4	483	-	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		68					B3KMH5|D3DNR8	Frame_Shift_Ins	INS	ENST00000232564.3	37	c.203_splice	CCDS3230.1																																																																																				0.361	GNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258218.1	NM_021629	Frame_Shift_Ins
ETV5	2119	broad.mit.edu	37	3	185823619	185823619	+	Silent	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:185823619G>A	ENST00000306376.5	-	2	285	c.39C>T	c.(37-39)gtC>gtT	p.V13V	ETV5_ENST00000537818.1_Silent_p.V55V|DGKG_ENST00000447054.1_5'UTR|ETV5_ENST00000434744.1_Silent_p.V13V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	13					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TTACCCCTGGGACCATAAAAG	0.453			T	"""TMPRSS2, SCL45A3"""	Prostate																																	uc003fpy.3				Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(163-165)gtC>gtT		Homo sapiens ets variant 5 (ETV5), mRNA.							90.0	87.0	88.0					3																	185823619		2203	4300	6503	SO:0001819	synonymous_variant	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185823619G>A	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.39C>T	3.37:g.185823619G>A						ETV5_uc003fpz.3_Silent_p.V13V	p.V55V	NM_004454	NP_004445	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		1	230	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		13					A6NH46|B7Z7D7|Q6IBN5	Silent	SNP	ENST00000306376.5	37	c.165C>T	CCDS33906.1																																																																																				0.453	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	NM_004454	
TACC3	10460	broad.mit.edu	37	4	1725208	1725208	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:1725208C>T	ENST00000313288.4	+	2	166	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TMEM129_ENST00000536901.1_5'Flank|TMEM129_ENST00000382936.3_5'Flank|TMEM129_ENST00000303277.2_5'Flank	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	20					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGAAAATTGCGACTTCCTGT	0.433																																					Ovarian(120;482 2294 11894 35824)	uc003gdo.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(58-60)tgC>tgT		Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.							60.0	59.0	59.0					4																	1725208		2202	4299	6501	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1725208C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.60C>T	4.37:g.1725208C>T						TMEM129_uc003gdn.3_5'Flank|TMEM129_uc003gdm.3_5'Flank|TACC3_uc010ibz.3_Silent_p.C20C|TACC3_uc003gdp.3_Silent_p.C20C	p.C20C	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		1	215	+		Breast(71;0.212)|all_epithelial(65;0.241)	20					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.60C>T	CCDS3352.1																																																																																				0.433	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2		
TBC1D9	23158	broad.mit.edu	37	4	141580777	141580777	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:141580777C>T	ENST00000442267.2	-	11	1960	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	629	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGGAGCATGCGCTCACACAA	0.448																																						uc010ioj.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31						c.(1885-1887)cGc>cAc		Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.							59.0	62.0	61.0					4																	141580777		2082	4225	6307	SO:0001583	missense	23158					intracellular	calcium ion binding|Rab GTPase activator activity	g.chr4:141580777C>T	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.1886G>A	4.37:g.141580777C>T	ENSP00000411197:p.Arg629His						p.R629H	NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN			10	2158	-	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)	629			Rab-GAP TBC.		A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	c.1886G>A	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553653	0.96501	.	.	ENSG00000109436	ENST00000442267	T	0.11169	2.8	5.62	5.62	0.85841	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.25680	0.0625	M	0.69248	2.105	0.80722	D	1	P	0.50943	0.94	P	0.51193	0.662	T	0.00398	-1.1764	10	0.72032	D	0.01	.	19.6768	0.95939	0.0:1.0:0.0:0.0	.	629	Q6ZT07	TBCD9_HUMAN	H	629	ENSP00000411197:R629H	ENSP00000411197:R629H	R	-	2	0	TBC1D9	141800227	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.634000	0.89283	0.655000	0.94253	CGC		0.448	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1	NM_015130	
GRIA2	2891	broad.mit.edu	37	4	158284178	158284178	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:158284178C>T	ENST00000264426.9	+	15	2913	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	GRIA2_ENST00000296526.7_Silent_p.I878I|GRIA2_ENST00000507898.1_Silent_p.I831I|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000393815.2_Silent_p.I831I|GRIA2_ENST00000449365.1_Silent_p.I831I	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	878					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.I878I(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TATATGGCATCGAAAGTGTTA	0.378																																						uc003ipm.4																			1	Substitution - coding silent(1)	p.I878I(2)	central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(2632-2634)atC>atT		Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	L-Glutamic Acid(DB00142)						126.0	122.0	123.0					4																	158284178		2203	4300	6503	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158284178C>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2634C>T	4.37:g.158284178C>T						GRIA2_uc011cit.2_Silent_p.I831I|GRIA2_uc003ipl.4_Silent_p.I878I|GRIA2_uc003ipk.4_Silent_p.I831I|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	p.I878I	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	14	3093	+	all_hematologic(180;0.24)	Renal(120;0.0458)	878					A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.2634C>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	C	3.666	-0.068507	0.07228	.	.	ENSG00000120251	ENST00000510854	.	.	.	6.08	6.08	0.98989	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	.	.	.	X	209	.	.	R	+	1	2	GRIA2	158503628	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	CGA		0.378	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
DNAH5	1767	broad.mit.edu	37	5	13753418	13753418	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:13753418C>G	ENST00000265104.4	-	63	10900	c.10796G>C	c.(10795-10797)cGt>cCt	p.R3599P		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3599	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGGGTAACGAGATGCCTT	0.368									Kartagener syndrome																													uc003jfd.2																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(10795-10797)cGt>cCt		Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.							115.0	104.0	108.0					5																	13753418		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13753418C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10796G>C	5.37:g.13753418C>G	ENSP00000265104:p.Arg3599Pro					DNAH5_uc003jfc.2_5'UTR	p.R3599P	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			62	10838	-	Lung NSC(4;0.00476)		3599			AAA 5 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10796G>C	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144447	0.94603	.	.	ENSG00000039139	ENST00000265104	T	0.68479	-0.33	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	H	0.99726	4.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94460	0.7675	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	3599	Q8TE73	DYH5_HUMAN	P	3599	ENSP00000265104:R3599P	ENSP00000265104:R3599P	R	-	2	0	DNAH5	13806418	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.398000	0.79919	2.880000	0.98712	0.650000	0.86243	CGT		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
DROSHA	29102	broad.mit.edu	37	5	31468080	31468080	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:31468080G>A	ENST00000511367.2	-	17	2576	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	DROSHA_ENST00000513349.1_Missense_Mutation_p.R741C|DROSHA_ENST00000344624.3_Missense_Mutation_p.R778C|DROSHA_ENST00000442743.1_Missense_Mutation_p.R741C	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	778	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGTGCAGGGCGTATCCCAAAG	0.438																																						uc003jhg.2																			0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(2332-2334)Cgc>Tgc		Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.							71.0	70.0	70.0					5																	31468080		1913	4119	6032	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31468080G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2332C>T	5.37:g.31468080G>A	ENSP00000425979:p.Arg778Cys					DROSHA_uc003jhh.2_Missense_Mutation_p.R741C|DROSHA_uc003jhi.2_Missense_Mutation_p.R741C	p.R778C	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			16	2691	-			778			Necessary for interaction with DGCR8 and pri-miRNA processing activity.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.2332C>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587781	0.66105	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	T;T;T;T	0.56776	1.06;1.06;0.44;0.44	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.61602	0.2360	M	0.80183	2.485	0.80722	D	1	D;D	0.64830	0.994;0.971	P;B	0.48598	0.583;0.363	T	0.68085	-0.5502	10	0.59425	D	0.04	-15.0091	12.584	0.56406	0.0:0.0:0.7094:0.2906	.	741;778	E7EMP9;Q9NRR4	.;RNC_HUMAN	C	778;778;741;741;703;734	ENSP00000425979:R778C;ENSP00000339845:R778C;ENSP00000409335:R741C;ENSP00000424161:R741C	ENSP00000265075:R703C	R	-	1	0	DROSHA	31503837	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.542000	0.60677	2.444000	0.82710	0.655000	0.94253	CGC		0.438	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	
MAP3K1	4214	broad.mit.edu	37	5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:56160697C>T	ENST00000399503.3	+	4	971	c.971C>T	c.(970-972)cCt>cTt	p.P324L	AC008937.2_ENST00000415589.1_RNA	NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	324					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468																																						uc003jqw.4																			0				NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57						c.(970-972)cCt>cTt		Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.							110.0	109.0	109.0					5																	56160697		1888	4111	5999	SO:0001583	missense	4214				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	g.chr5:56160697C>T	U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.971C>T	5.37:g.56160697C>T	ENSP00000382423:p.Pro324Leu						p.P324L	NM_005921	NP_005912	Q13233	M3K1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)	3	1472	+		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)	324						Missense_Mutation	SNP	ENST00000399503.3	37	c.971C>T	CCDS43318.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922032	0.92319	.	.	ENSG00000095015	ENST00000399503	T	0.72167	-0.63	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86368	0.1721	10	0.87932	D	0	.	19.7555	0.96287	0.0:1.0:0.0:0.0	.	324	Q13233	M3K1_HUMAN	L	324	ENSP00000382423:P324L	ENSP00000382423:P324L	P	+	2	0	MAP3K1	56196454	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.764000	0.74960	2.737000	0.93849	0.563000	0.77884	CCT		0.468	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132309.2	XM_042066	
GRAMD3	65983	broad.mit.edu	37	5	125821443	125821443	+	Missense_Mutation	SNP	A	A	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:125821443A>T	ENST00000285689.3	+	11	1497	c.1036A>T	c.(1036-1038)Att>Ttt	p.I346F	GRAMD3_ENST00000542322.1_Missense_Mutation_p.I354F|GRAMD3_ENST00000511134.1_Missense_Mutation_p.I330F|GRAMD3_ENST00000502348.1_Missense_Mutation_p.I237F|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000544396.1_Missense_Mutation_p.I242F|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000513040.1_Missense_Mutation_p.I361F|GRAMD3_ENST00000543198.1_Missense_Mutation_p.I324F|GRAMD3_ENST00000515200.1_Missense_Mutation_p.I324F	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	346						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GCTTCACCATATTCTTATATT	0.348																																						uc011cwt.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1081-1083)Att>Ttt		Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.							121.0	110.0	114.0					5																	125821443		2203	4300	6503	SO:0001583	missense	65983							g.chr5:125821443A>T	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1036A>T	5.37:g.125821443A>T	ENSP00000285689:p.Ile346Phe					GRAMD3_uc003ktu.3_Missense_Mutation_p.I346F|GRAMD3_uc011cwv.2_Missense_Mutation_p.I354F|GRAMD3_uc011cww.2_Missense_Mutation_p.I242F|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.I237F|GRAMD3_uc011cwz.2_Missense_Mutation_p.I330F	p.I361F	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	10	1317	+		Prostate(80;0.0928)	346					B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	37	c.1081A>T	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.964795	0.53507	.	.	ENSG00000155324	ENST00000513040;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	T;T;T;T;T;T;T;T	0.38560	1.13;1.15;1.19;1.15;1.24;1.22;1.25;1.19	5.94	3.53	0.40419	.	0.227191	0.45126	D	0.000396	T	0.55401	0.1918	M	0.65975	2.015	0.44136	D	0.996929	D;P;D;D;D	0.69078	0.996;0.948;0.995;0.997;0.996	P;P;P;D;P	0.63703	0.764;0.572;0.798;0.917;0.764	T	0.54330	-0.8310	10	0.72032	D	0.01	.	7.5781	0.27948	0.7867:0.1415:0.0719:0.0	.	330;242;354;361;346	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	F	361;346;324;354;242;324;237;330	ENSP00000426120:I361F;ENSP00000285689:I346F;ENSP00000426143:I324F;ENSP00000441876:I354F;ENSP00000444049:I242F;ENSP00000442902:I324F;ENSP00000427596:I237F;ENSP00000426088:I330F	ENSP00000285689:I346F	I	+	1	0	GRAMD3	125849342	0.662000	0.27439	0.997000	0.53966	0.256000	0.26092	0.989000	0.29629	0.487000	0.27698	-0.379000	0.06801	ATT		0.348	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927	
PCDHA10	56139	broad.mit.edu	37	5	140236992	140236992	+	Silent	SNP	G	G	A	rs372428918		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:140236992G>A	ENST00000307360.5	+	1	1359	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A453A|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	453	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A453A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGT	0.677																																						uc003lhx.2																			2	Substitution - coding silent(2)	p.A453A(2)	ovary(2)	NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(1357-1359)gcG>gcA		Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.							101.0	94.0	97.0					5																	140236992		2196	4274	6470	SO:0001819	synonymous_variant	56139				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140236992G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1359G>A	5.37:g.140236992G>A						PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.A453A|PCDHAC2_uc011dad.2_Silent_p.A453A	p.A453A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1359	+			468			Cadherin 4.		A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1359G>A	CCDS54921.1																																																																																				0.677	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901	
PCDHB2	56133	broad.mit.edu	37	5	140475875	140475875	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:140475875C>A	ENST00000194155.4	+	1	1649	c.1501C>A	c.(1501-1503)Ccc>Acc	p.P501T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	501	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCACCTGCCCCTCGCCTC	0.692																																						uc003lil.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(1501-1503)Ccc>Acc		Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.							61.0	66.0	65.0					5																	140475875		2202	4294	6496	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475875C>A	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1501C>A	5.37:g.140475875C>A	ENSP00000194155:p.Pro501Thr					PCDHB2_uc003lim.1_Missense_Mutation_p.P162T	p.P501T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1639	+			501			Cadherin 5.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.1501C>A	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	8.960	0.970423	0.18659	.	.	ENSG00000112852	ENST00000194155	T	0.01629	4.72	4.38	1.37	0.22104	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02533	0.0077	L	0.45581	1.43	0.09310	N	1	B	0.32040	0.353	B	0.30572	0.117	T	0.37407	-0.9707	9	0.66056	D	0.02	.	12.5987	0.56485	0.0:0.2208:0.6962:0.083	.	501	Q9Y5E7	PCDB2_HUMAN	T	501	ENSP00000194155:P501T	ENSP00000194155:P501T	P	+	1	0	PCDHB2	140456059	0.000000	0.05858	0.002000	0.10522	0.879000	0.50718	-0.580000	0.05827	0.015000	0.14971	0.556000	0.70494	CCC		0.692	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
GPR116	221395	broad.mit.edu	37	6	46856078	46856078	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:46856078T>C	ENST00000283296.7	-	4	610	c.322A>G	c.(322-324)Aca>Gca	p.T108A	GPR116_ENST00000362015.4_Missense_Mutation_p.T108A|GPR116_ENST00000456426.2_Missense_Mutation_p.T108A|GPR116_ENST00000478711.1_5'UTR|GPR116_ENST00000265417.7_Missense_Mutation_p.T108A	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	108					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCACCTGTTGTCACATTTATG	0.403																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(322-324)Aca>Gca		Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.							122.0	115.0	117.0					6																	46856078		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46856078T>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.322A>G	6.37:g.46856078T>C	ENSP00000283296:p.Thr108Ala					GPR116_uc003oyp.3_Missense_Mutation_p.T108A|GPR116_uc003oyq.3_Missense_Mutation_p.T108A|GPR116_uc003oyr.2_Missense_Mutation_p.T108A	p.T108A	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		3	611	-			108					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.322A>G	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743348	0.69418	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.55052	0.66;1.04;0.54;0.66	5.66	4.49	0.54785	.	0.094954	0.46145	D	0.000310	T	0.47820	0.1466	M	0.71581	2.175	0.80722	D	1	P;P;P	0.51351	0.908;0.944;0.908	P;P;P	0.50617	0.577;0.646;0.577	T	0.55471	-0.8136	10	0.72032	D	0.01	-18.9062	9.2308	0.37437	0.1611:0.0:0.0:0.8389	.	108;108;108	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	A	108	ENSP00000283296:T108A;ENSP00000354563:T108A;ENSP00000412866:T108A;ENSP00000265417:T108A	ENSP00000265417:T108A	T	-	1	0	GPR116	46964037	0.995000	0.38212	0.999000	0.59377	0.867000	0.49689	2.347000	0.44036	1.061000	0.40601	0.533000	0.62120	ACA		0.403	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234	
HTR1E	3354	broad.mit.edu	37	6	87725312	87725312	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:87725312G>A	ENST00000305344.5	+	2	963	c.260G>A	c.(259-261)cGc>cAc	p.R87H		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	87					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.R87H(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GTCATGGATCGCTGGAAGCTT	0.572																																						uc003pli.3																			1	Substitution - Missense(1)	p.R87H(2)	large_intestine(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(259-261)cGc>cAc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	Eletriptan(DB00216)						157.0	134.0	142.0					6																	87725312		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725312G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.260G>A	6.37:g.87725312G>A	ENSP00000307766:p.Arg87His					HTR1E_uc021zcg.1_Missense_Mutation_p.R87H	p.R87H	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	1	963	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	87					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.260G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	8.840	0.942067	0.18281	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.72282	-0.64;-0.64	4.57	2.54	0.30619	GPCR, rhodopsin-like superfamily (1);	0.592901	0.15652	U	0.251351	T	0.40423	0.1116	N	0.16307	0.4	0.09310	N	1	P	0.35780	0.52	B	0.43623	0.425	T	0.18524	-1.0334	10	0.25751	T	0.34	.	8.5907	0.33686	0.0943:0.3733:0.5324:0.0	.	87	P28566	5HT1E_HUMAN	H	87	ENSP00000307766:R87H;ENSP00000358597:R87H	ENSP00000307766:R87H	R	+	2	0	HTR1E	87782031	0.034000	0.19679	0.995000	0.50966	0.536000	0.34869	0.100000	0.15231	2.085000	0.62840	0.404000	0.27445	CGC		0.572	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-	rs147222924		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_ENST00000529208.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000527659.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000530481.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.123_124SS>S|EPB41L2_ENST00000368128.2_In_Frame_Del_p.745_746SS>S|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525193.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562																																						uc003qch.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2233-2238)agcagt>agt		Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.																																				SO:0001651	inframe_deletion	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131191073_131191075delCTG	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2235_2237delCAG	6.37:g.131191082_131191084delCTG	ENSP00000338481:p.Ser746del					EPB41L2_uc003qce.1_In_Frame_Del_p.123_124SS>S|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_In_Frame_Del_p.675_676SS>S|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_In_Frame_Del_p.675_676SS>S|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_In_Frame_Del_p.142_143SS>S	p.745_746SS>S	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	14	2417_2419	-	Breast(56;0.0639)		745					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	In_Frame_Del	DEL	ENST00000337057.3	37	c.2235_2237delCAG	CCDS5141.1																																																																																				0.562	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3		
SDK1	221935	broad.mit.edu	37	7	4169639	4169639	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:4169639G>A	ENST00000404826.2	+	27	4178	c.4039G>A	c.(4039-4041)Gtg>Atg	p.V1347M	SDK1_ENST00000389531.3_Missense_Mutation_p.V1347M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1347	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V1347M(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGCAAGTTCGTGCTCTACGA	0.657																																						uc003smx.3																			1	Substitution - Missense(1)	p.V1347M(2)	large_intestine(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(4039-4041)Gtg>Atg		Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.							55.0	52.0	53.0					7																	4169639		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4169639G>A	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4039G>A	7.37:g.4169639G>A	ENSP00000385899:p.Val1347Met					SDK1_uc010kso.3_Missense_Mutation_p.V623M|SDK1_uc003smy.3_5'UTR	p.V1347M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	26	4178	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1347			Fibronectin type-III 7.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4039G>A	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617835	0.87359	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56941	0.43;0.43	5.73	5.73	0.89815	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.172787	0.39687	N	0.001286	T	0.66187	0.2764	L	0.39147	1.195	0.40805	D	0.983372	D;D	0.89917	0.973;1.0	P;D	0.67548	0.476;0.952	T	0.67546	-0.5643	10	0.66056	D	0.02	.	19.9025	0.96993	0.0:0.0:1.0:0.0	.	1347;1347	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	1347	ENSP00000385899:V1347M;ENSP00000374182:V1347M	ENSP00000374182:V1347M	V	+	1	0	SDK1	4136165	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.197000	0.77814	2.722000	0.93159	0.655000	0.94253	GTG		0.657	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
SKAP2	8935	broad.mit.edu	37	7	26778465	26778465	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:26778465G>A	ENST00000345317.2	-	6	731	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame|SKAP2_ENST00000489977.1_5'UTR	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	140	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GCACACCACCGTTTCTGCCAT	0.328																																						uc003syc.3																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						c.(418-420)Cgg>Tgg		Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.							108.0	108.0	108.0					7																	26778465		2203	4300	6503	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26778465G>A		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.418C>T	7.37:g.26778465G>A	ENSP00000005587:p.Arg140Trp					SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.R125W	p.R140W	NM_003930	NP_003921	O75563	SKAP2_HUMAN			5	711	-			140			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.418C>T	CCDS5400.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247153	0.80024	.	.	ENSG00000005020	ENST00000345317;ENST00000535331;ENST00000432747	T;T	0.26373	1.74;1.74	5.7	5.7	0.88788	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78091	-0.2339	10	0.87932	D	0	-3.5822	16.7512	0.85487	0.0:0.0:1.0:0.0	.	125;140	B7Z5N4;O75563	.;SKAP2_HUMAN	W	140;125;125	ENSP00000005587:R140W;ENSP00000408163:R125W	ENSP00000005587:R140W	R	-	1	2	SKAP2	26744990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.129000	0.57957	2.696000	0.92011	0.561000	0.74099	CGG		0.328	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1		
ZPBP	11055	broad.mit.edu	37	7	50097662	50097662	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:50097662A>G	ENST00000046087.2	-	4	479	c.410T>C	c.(409-411)aTt>aCt	p.I137T	ZPBP_ENST00000419417.1_Missense_Mutation_p.I136T|ZPBP_ENST00000491129.1_5'Flank	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	137					acrosome assembly (GO:0001675)|binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|extracellular region (GO:0005576)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					ACATGTATAAATTCCACTCAT	0.333																																						uc003tou.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29						c.(409-411)aTt>aCt		Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.							109.0	110.0	109.0					7																	50097662		2203	4300	6503	SO:0001583	missense	11055				binding of sperm to zona pellucida	extracellular region		g.chr7:50097662A>G	D17570	CCDS5509.1, CCDS55110.1	7p14.3	2013-01-11			ENSG00000042813	ENSG00000042813		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15662	protein-coding gene	gene with protein product		608498				9378618	Standard	NM_007009		Approved	SP38, ZPBP1	uc003tou.3	Q9BS86	OTTHUMG00000023528	ENST00000046087.2:c.410T>C	7.37:g.50097662A>G	ENSP00000046087:p.Ile137Thr					ZPBP_uc010kyw.3_Missense_Mutation_p.I136T	p.I137T	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN			3	480	-	Glioma(55;0.08)|all_neural(89;0.245)		137					A4D253|C9JPU1|Q15941|Q75KX9|Q75MI3	Missense_Mutation	SNP	ENST00000046087.2	37	c.410T>C	CCDS5509.1	.	.	.	.	.	.	.	.	.	.	A	13.72	2.322187	0.41096	.	.	ENSG00000042813	ENST00000046087;ENST00000419417	T;T	0.76060	-0.99;-0.99	5.66	5.66	0.87406	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.216830	0.32041	N	0.006667	T	0.53498	0.1800	N	0.08118	0	0.25526	N	0.987324	B;B	0.26775	0.159;0.159	B;B	0.22386	0.039;0.039	T	0.40701	-0.9549	9	.	.	.	-10.9365	13.4081	0.60926	1.0:0.0:0.0:0.0	.	136;137	C9JPU1;Q9BS86	.;ZPBP1_HUMAN	T	137;136	ENSP00000046087:I137T;ENSP00000402071:I136T	.	I	-	2	0	ZPBP	50068208	0.973000	0.33851	0.870000	0.34147	0.967000	0.64934	3.380000	0.52448	2.140000	0.66376	0.482000	0.46254	ATT		0.333	ZPBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251374.1	NM_007009	
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					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.G598V(15)		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)	TGCCCGGCAGGAGTCATGGGA	0.567		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"""		15	Substitution - Missense(15)	p.G598V(31)|p.A597T(1)|p.A597P(1)	central_nervous_system(15)	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.(1792-1794)gGa>gTa		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)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		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.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	p.G598V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		14	2039	+	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)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PTPN12	5782	broad.mit.edu	37	7	77256938	77256938	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:77256938A>G	ENST00000248594.6	+	13	2214	c.1942A>G	c.(1942-1944)Atg>Gtg	p.M648V	PTPN12_ENST00000435495.2_Missense_Mutation_p.M518V|PTPN12_ENST00000415482.2_Missense_Mutation_p.M529V	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	648					protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGTATTGCCAATGTCCATTGC	0.373																																						uc003ugh.2																			0				breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						c.(1942-1944)Atg>Gtg		Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.							61.0	60.0	61.0					7																	77256938		2203	4300	6503	SO:0001583	missense	5782					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding	g.chr7:77256938A>G		CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.1942A>G	7.37:g.77256938A>G	ENSP00000248594:p.Met648Val					PTPN12_uc011kgp.1_Missense_Mutation_p.M529V|PTPN12_uc011kgq.1_Missense_Mutation_p.M518V|PTPN12_uc010lds.2_Missense_Mutation_p.M380V	p.M648V	NM_002835	NP_002826	Q05209	PTN12_HUMAN			12	2033	+			648					A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	ENST00000248594.6	37	c.1942A>G	CCDS5592.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563138	0.45694	.	.	ENSG00000127947	ENST00000248594;ENST00000415482;ENST00000543073;ENST00000435495;ENST00000407343	T;T;T;T	0.37752	3.7;3.1;3.1;1.18	5.8	2.11	0.27256	.	0.076807	0.85682	N	0.000000	T	0.46946	0.1419	L	0.52364	1.645	0.44142	D	0.996938	D	0.58268	0.982	D	0.67548	0.952	T	0.17561	-1.0365	10	0.30854	T	0.27	.	9.6407	0.39837	0.8017:0.0:0.1983:0.0	.	648	Q05209	PTN12_HUMAN	V	648;529;529;518;156	ENSP00000248594:M648V;ENSP00000392429:M529V;ENSP00000397991:M518V;ENSP00000385079:M156V	ENSP00000248594:M648V	M	+	1	0	PTPN12	77094874	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	4.143000	0.58051	0.125000	0.18397	0.460000	0.39030	ATG		0.373	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253183.3		
PAX4	5078	broad.mit.edu	37	7	127254980	127254980	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:127254980C>T	ENST00000341640.2	-	2	495	c.290G>A	c.(289-291)cGc>cAc	p.R97H	PAX4_ENST00000378740.2_Missense_Mutation_p.R97H|PAX4_ENST00000338516.3_Missense_Mutation_p.R105H|PAX4_ENST00000463946.1_Missense_Mutation_p.R95H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	105	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACAAAGCTGGCGTTGGATTTC	0.592																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1																			0				cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(289-291)cGc>cAc		Homo sapiens paired box 4 (PAX4), mRNA.							54.0	50.0	52.0					7																	127254980		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127254980C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.290G>A	7.37:g.127254980C>T	ENSP00000339906:p.Arg97His					PAX4_uc003vmf.2_Missense_Mutation_p.R95H|PAX4_uc003vmg.1_Missense_Mutation_p.R97H|PAX4_uc003vmh.3_Missense_Mutation_p.R95H	p.R97H	NM_006193	NP_006184	O43316	PAX4_HUMAN			1	496	-			105			Paired.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.290G>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.836809	0.50951	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.99329	-5.75;-5.75;-5.75	5.63	0.0348	0.14185	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.384594	0.30547	N	0.009381	D	0.95338	0.8487	N	0.08118	0	0.29610	N	0.847015	B;B;B;B	0.26258	0.023;0.029;0.005;0.145	B;B;B;B	0.19666	0.008;0.011;0.014;0.026	D	0.92639	0.6123	10	0.66056	D	0.02	.	9.4674	0.38822	0.0:0.5071:0.0:0.4929	.	97;95;105;95	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	H	97;105;105;95	ENSP00000339906:R97H;ENSP00000344297:R105H;ENSP00000451923:R95H	ENSP00000344297:R105H	R	-	2	0	PAX4	127042216	0.000000	0.05858	0.995000	0.50966	0.986000	0.74619	0.288000	0.18939	0.051000	0.15978	-0.140000	0.14226	CGC		0.592	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1		
PLXNA4	91584	broad.mit.edu	37	7	131872333	131872333	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:131872333C>T	ENST00000359827.3	-	15	3852	c.2890G>A	c.(2890-2892)Ggg>Agg	p.G964R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G964R			Q9HCM2	PLXA4_HUMAN	plexin A4	964	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACATGGGCCCCCGGCTGGGC	0.587																																						uc003vra.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(2890-2892)Ggg>Agg		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							158.0	169.0	165.0					7																	131872333		2054	4212	6266	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131872333C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2890G>A	7.37:g.131872333C>T	ENSP00000352882:p.Gly964Arg						p.G964R	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			14	3119	-			964			IPT/TIG 2.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.2890G>A	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	33	5.225085	0.95173	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.68903	-0.36;-0.36	5.5	5.5	0.81552	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.099468	0.64402	D	0.000001	D	0.87200	0.6118	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90142	0.4214	10	0.87932	D	0	.	19.4564	0.94892	0.0:1.0:0.0:0.0	.	964	Q9HCM2	PLXA4_HUMAN	R	964	ENSP00000323194:G964R;ENSP00000352882:G964R	ENSP00000323194:G964R	G	-	1	0	PLXNA4	131522873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.611000	0.88343	0.549000	0.68633	GGG		0.587	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
DENND2A	27147	broad.mit.edu	37	7	140301257	140301257	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:140301257G>A	ENST00000275884.6	-	2	1358	c.941C>T	c.(940-942)tCc>tTc	p.S314F	DENND2A_ENST00000492720.1_Missense_Mutation_p.S314F|DENND2A_ENST00000496613.1_Missense_Mutation_p.S314F|DENND2A_ENST00000537639.1_Missense_Mutation_p.S314F			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	314					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTTCACagaggaaggtggggg	0.587																																						uc010lnk.3																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(940-942)tCc>tTc		Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.							47.0	50.0	49.0					7																	140301257		1968	4162	6130	SO:0001583	missense	27147							g.chr7:140301257G>A	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.941C>T	7.37:g.140301257G>A	ENSP00000275884:p.Ser314Phe					DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S314F|DENND2A_uc003vvw.3_Missense_Mutation_p.S314F|DENND2A_uc003vvx.3_Missense_Mutation_p.S314F	p.S314F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN			2	1461	-	Melanoma(164;0.00956)		314					C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	c.941C>T	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114422	0.56505	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.11169	3.52;3.52;3.52;2.8	4.85	4.85	0.62838	.	1.318910	0.04505	N	0.381863	T	0.25419	0.0618	L	0.54323	1.7	0.29752	N	0.83626	P;P	0.46220	0.874;0.74	P;B	0.48141	0.568;0.212	T	0.46303	-0.9201	10	0.66056	D	0.02	0.017	18.1513	0.89675	0.0:0.0:1.0:0.0	.	314;314	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	F	314	ENSP00000275884:S314F;ENSP00000442245:S314F;ENSP00000419654:S314F;ENSP00000419464:S314F	ENSP00000275884:S314F	S	-	2	0	DENND2A	139947726	0.992000	0.36948	0.042000	0.18584	0.784000	0.44337	4.364000	0.59479	2.519000	0.84933	0.462000	0.41574	TCC		0.587	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
ODF2	4957	broad.mit.edu	37	9	131233667	131233667	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:131233667C>T	ENST00000434106.3	+	6	864	c.501C>T	c.(499-501)caC>caT	p.H167H	ODF2_ENST00000393527.3_Silent_p.H143H|ODF2_ENST00000546203.1_Silent_p.H148H|ODF2_ENST00000444119.2_Silent_p.H143H|ODF2_ENST00000393533.2_Silent_p.H167H|ODF2_ENST00000604420.1_Silent_p.H167H|ODF2_ENST00000535026.1_Intron|ODF2_ENST00000372807.5_Silent_p.H162H|ODF2_ENST00000372791.3_Silent_p.H148H|ODF2_ENST00000448249.3_Silent_p.H86H|ODF2_ENST00000351030.3_Silent_p.H162H|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000372814.3_Silent_p.H211H	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	167					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGGCCCACGAACTGGCTG	0.577																																						uc004bvc.3																			0				autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						c.(691-693)caC>caT		Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.							179.0	157.0	164.0					9																	131233667		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131233667C>T	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.501C>T	9.37:g.131233667C>T						ODF2_uc011maz.2_Silent_p.H167H|ODF2_uc011mba.2_Intron|ODF2_uc010myb.3_Silent_p.H143H|ODF2_uc011mbc.2_Silent_p.H86H|ODF2_uc022boj.1_Silent_p.H192H|ODF2_uc004bva.3_Silent_p.H211H|ODF2_uc004bvb.3_Silent_p.H143H|ODF2_uc011mbd.2_Silent_p.H167H|ODF2_uc011mbe.2_Silent_p.H162H|ODF2_uc010myc.3_Silent_p.H110H|ODF2_uc011mbf.2_Silent_p.H148H|ODF2_uc004bvd.4_Silent_p.H167H|ODF2_uc004bve.3_Silent_p.H148H	p.H231H	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN			5	779	+			167					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.693C>T	CCDS56588.1																																																																																				0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3		
PRDM12	59335	broad.mit.edu	37	9	133540113	133540113	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:133540113G>A	ENST00000253008.2	+	1	133	c.73G>A	c.(73-75)Gcc>Acc	p.A25T		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	25					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		ACTGGCGCTGGCCGAGGTTAT	0.706																																						uc004bzt.1																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(73-75)Gcc>Acc		Homo sapiens PR domain containing 12 (PRDM12), mRNA.							16.0	15.0	16.0					9																	133540113		2157	4200	6357	SO:0001583	missense	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133540113G>A	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.73G>A	9.37:g.133540113G>A	ENSP00000253008:p.Ala25Thr						p.A25T	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	0	133	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	25					A3KFK9	Missense_Mutation	SNP	ENST00000253008.2	37	c.73G>A	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679077	0.47886	.	.	ENSG00000130711	ENST00000253008	T	0.10005	2.92	4.48	3.57	0.40892	.	0.315391	0.34223	N	0.004156	T	0.07413	0.0187	N	0.19112	0.55	0.34817	D	0.738315	B	0.12013	0.005	B	0.06405	0.002	T	0.10613	-1.0622	10	0.52906	T	0.07	-12.2669	10.5876	0.45292	0.0966:0.0:0.9034:0.0	.	25	Q9H4Q4	PRD12_HUMAN	T	25	ENSP00000253008:A25T	ENSP00000253008:A25T	A	+	1	0	PRDM12	132529934	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.345000	0.72995	2.026000	0.59711	0.462000	0.41574	GCC		0.706	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619	
PRDM12	59335	broad.mit.edu	37	9	133540124	133540124	+	Silent	SNP	C	C	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:133540124C>T	ENST00000253008.2	+	1	144	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	28					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CCGAGGTTATCACCTCCGACA	0.687																																						uc004bzt.1																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(82-84)atC>atT		Homo sapiens PR domain containing 12 (PRDM12), mRNA.							17.0	16.0	16.0					9																	133540124		2161	4215	6376	SO:0001819	synonymous_variant	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133540124C>T	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.84C>T	9.37:g.133540124C>T							p.I28I	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	0	144	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	28					A3KFK9	Silent	SNP	ENST00000253008.2	37	c.84C>T	CCDS6934.1																																																																																				0.687	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619	
PPP1R26	9858	broad.mit.edu	37	9	138379880	138379880	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:138379880G>C	ENST00000356818.2	+	4	4073	c.3524G>C	c.(3523-3525)aGg>aCg	p.R1175T	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R1175T|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R1175T|PPP1R26_ENST00000604351.1_Missense_Mutation_p.R1175T|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R1175T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	1175					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TATCGACGAAGGGTCAACAGG	0.607																																						uc022bpi.1																			0											c.(3523-3525)aGg>aCg		Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.							61.0	55.0	57.0					9																	138379880		2203	4300	6503	SO:0001583	missense	9858					nucleolus	protein binding	g.chr9:138379880G>C	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.3524G>C	9.37:g.138379880G>C	ENSP00000349274:p.Arg1175Thr					PPP1R26_uc004cfr.1_Missense_Mutation_p.R1175T	p.R1175T	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN			0	3524	+			1175					Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	37	c.3524G>C	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	G	12.82	2.053501	0.36181	.	.	ENSG00000196422	ENST00000356818	T	0.10005	2.92	4.45	0.389	0.16269	.	0.289862	0.29884	N	0.010953	T	0.06690	0.0171	L	0.29908	0.895	0.09310	N	1	B	0.23891	0.093	B	0.27170	0.077	T	0.37731	-0.9693	10	0.22109	T	0.4	-20.7153	5.913	0.19039	0.1902:0.4846:0.3252:0.0	.	1175	Q5T8A7	PPR26_HUMAN	T	1175	ENSP00000349274:R1175T	ENSP00000349274:R1175T	R	+	2	0	KIAA0649	137519701	0.005000	0.15991	0.007000	0.13788	0.034000	0.12701	0.555000	0.23422	0.198000	0.20407	0.484000	0.47621	AGG		0.607	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811	
KLHL4	56062	broad.mit.edu	37	X	86887278	86887278	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:86887278C>A	ENST00000373119.4	+	7	1538	c.1393C>A	c.(1393-1395)Cgt>Agt	p.R465S	KLHL4_ENST00000373114.4_Missense_Mutation_p.R465S	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	465						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CATGAATGGCCGTAGGCTTCA	0.393																																						uc004efa.2																			0		p.R465H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1393-1395)Cgt>Agt		Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.							105.0	88.0	94.0					X																	86887278		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86887278C>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1393C>A	X.37:g.86887278C>A	ENSP00000362211:p.Arg465Ser					KLHL4_uc004efb.2_Missense_Mutation_p.R465S	p.R465S	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN			6	1575	+			465					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1393C>A	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675090	0.67928	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.66280	-0.2;-0.2	5.32	4.45	0.53987	Galactose oxidase, beta-propeller (1);	0.059533	0.64402	D	0.000005	T	0.73079	0.3541	L	0.53249	1.67	0.58432	D	0.999996	D;D	0.76494	0.995;0.999	D;D	0.72075	0.961;0.976	T	0.74284	-0.3715	10	0.66056	D	0.02	.	11.9535	0.52968	0.4392:0.5608:0.0:0.0	.	465;465	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	S	465	ENSP00000362211:R465S;ENSP00000362206:R465S	ENSP00000362206:R465S	R	+	1	0	KLHL4	86773934	0.988000	0.35896	0.729000	0.30791	0.971000	0.66376	2.819000	0.48049	0.987000	0.38709	0.506000	0.49869	CGT		0.393	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1		
MAGEC2	51438	broad.mit.edu	37	X	141291741	141291741	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:141291741G>T	ENST00000247452.3	-	3	380	c.33C>A	c.(31-33)aaC>aaA	p.N11K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	11					cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.N11K(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGTCAACGTTGCGGAATG	0.537										HNSCC(46;0.14)																												uc022cfj.1																			1	Substitution - Missense(1)	p.N11K(2)	prostate(1)	NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47						c.(31-33)aaC>aaA		Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.							120.0	110.0	113.0					X																	141291741		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291741G>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.33C>A	X.37:g.141291741G>T	ENSP00000354660:p.Asn11Lys	HNSCC(46;0.14)				MAGEC2_uc004fbu.2_Missense_Mutation_p.N11K	p.N11K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			0	33	-	Acute lymphoblastic leukemia(192;6.56e-05)		11					Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.33C>A	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	10.94	1.492254	0.26774	.	.	ENSG00000046774	ENST00000247452	T	0.02032	4.49	0.896	-1.79	0.07932	.	1.656910	0.03992	N	0.295095	T	0.00845	0.0028	N	0.08118	0	0.09310	N	1	P	0.41498	0.752	B	0.27380	0.079	T	0.43065	-0.9414	9	0.02654	T	1	.	.	.	.	.	11	Q9UBF1	MAGC2_HUMAN	K	11	ENSP00000354660:N11K	ENSP00000354660:N11K	N	-	3	2	MAGEC2	141119407	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.808000	0.04515	-0.985000	0.03503	-0.487000	0.04747	AAC		0.537	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
CD99L2	83692	broad.mit.edu	37	X	149963729	149963729	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:149963729T>C	ENST00000370377.3	-	6	497	c.380A>G	c.(379-381)gAt>gGt	p.D127G	CD99L2_ENST00000355149.3_Missense_Mutation_p.D55G|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000466436.1_Missense_Mutation_p.D78G|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	127					cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATTTCGATCATCCAGGGC	0.448																																						uc004fek.3																			0		p.R131Q(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(391-393)gAt>gGt		Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.							151.0	151.0	151.0					X																	149963729		2203	4300	6503	SO:0001583	missense	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149963729T>C	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.380A>G	X.37:g.149963729T>C	ENSP00000359403:p.Asp127Gly					CD99L2_uc011myb.2_Intron|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.D127G|CD99L2_uc004fem.3_Missense_Mutation_p.D78G|CD99L2_uc004fen.3_Missense_Mutation_p.D55G	p.D131G	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN			5	620	-	Acute lymphoblastic leukemia(192;6.56e-05)		127					A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	Missense_Mutation	SNP	ENST00000370377.3	37	c.392A>G	CCDS35427.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.145438	0.37825	.	.	ENSG00000102181	ENST00000370377;ENST00000438086;ENST00000355149;ENST00000466436;ENST00000418547	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	3.67	3.67	0.42095	.	0.210350	0.40818	N	0.001012	T	0.26412	0.0645	N	0.26130	0.795	0.80722	D	1	B;D;B	0.71674	0.002;0.998;0.004	B;D;B	0.63488	0.006;0.915;0.019	T	0.01630	-1.1308	9	.	.	.	-15.771	9.6118	0.39668	0.0:0.0:0.0:1.0	.	55;78;127	Q8TCZ2-3;Q8TCZ2-2;Q8TCZ2	.;.;C99L2_HUMAN	G	127;131;55;78;90	ENSP00000359403:D127G;ENSP00000347275:D55G;ENSP00000417697:D78G;ENSP00000391821:D90G	.	D	-	2	0	CD99L2	149714387	1.000000	0.71417	0.989000	0.46669	0.930000	0.56654	3.384000	0.52478	1.674000	0.50907	0.417000	0.27973	GAT		0.448	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462	
