#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
OR6C74	254783	broad.mit.edu	37	12	55641968	55641969	+	Frame_Shift_Ins	INS	-	-	TTTCTCTGTTGAG			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:55641968_55641969insTTTCTCTGTTGAG	ENST00000343870.4	+	1	987_988	c.897_898insTTTCTCTGTTGAG	c.(898-900)aagfs	p.K300fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						AAGATGTTTTTAAGCACACAGT	0.317																																						ENST00000343870.4		NA																	0				central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(898-900)aagfs		olfactory receptor, family 6, subfamily C, member 74																																				SO:0001589	frameshift_variant	254783				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55641968_55641969insTTTCTCTGTTGAG		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	Exception_encountered	12.37:g.55641968_55641969insTTTCTCTGTTGAG	ENSP00000342836:p.Lys300fs	True	False		Somatic	0					p.K300fs	NM_001005490.1	NP_001005490.1	WXS	Illumina HiSeq	Phase_I	A6NCV1	O6C74_HUMAN			1	987_988	+			300						Frame_Shift_Ins	INS	ENST00000343870.4	37	c.897_898insTTTCTCTGTTGAG	CCDS31816.1																																																																																				0.317	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1	0			12:55641968
ITGBL1	9358	broad.mit.edu	37	13	102220132	102220133	+	In_Frame_Ins	INS	-	-	ACATACTCTTAACAG			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:102220132_102220133insACATACTCTTAACAG	ENST00000376180.3	+	3	618_619	c.399_400insACATACTCTTAACAG	c.(400-402)ttg>ACATACTCTTAACAGttg	p.133_134insTYS*Q	ITGBL1_ENST00000545560.2_5'UTR|ITGBL1_ENST00000376162.3_In_Frame_Ins_p.40_41insTYS*Q	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	133	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTAACTGTGACTTGACAAAGAA	0.431																																						ENST00000376180.3		NA																	0				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31						c.(400-402)ttg>ACATACTCTTAACAGttg		integrin, beta-like 1 (with EGF-like repeat domains)																																				SO:0001652	inframe_insertion	9358				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	g.chr13:102220132_102220133insACATACTCTTAACAG	AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	Exception_encountered	13.37:g.102220132_102220133insACATACTCTTAACAG	ENSP00000365351:p.Asp133_Leu134insThrTyrSer*Gln	False	False		Somatic	0				ITGBL1_ENST00000545560.2_5'UTR|ITGBL1_ENST00000376162.3_In_Frame_Ins_p.40_41insTYS*Q	p.133_134insTYS*Q	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	WXS	Illumina HiSeq	Phase_I	O95965	ITGBL_HUMAN			3	618_619	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		133			Cysteine-rich tandem repeats.		A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	In_Frame_Ins	INS	ENST00000376180.3	37	c.399_400insACATACTCTTAACAG	CCDS9499.1																																																																																				0.431	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045669.2	0	NM_004791		13:102220132
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	G	rs558156059		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579																																						ENST00000263798.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.e6+2		TYRO3 protein tyrosine kinase																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41857341_41857342insG	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.783+2->G	15.37:g.41857341_41857342insG		False	False		Somatic	0				TYRO3_ENST00000559066.1_Splice_Site		NM_006293.3	NP_006284.2	WXS	Illumina HiSeq	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	6	1007	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	NA					O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37		CCDS10080.1																																																																																				0.579	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2	0		Intron	15:41857341
DMXL2	23312	broad.mit.edu	37	15	51868307	51868308	+	Frame_Shift_Del	DEL	AG	AG	-	rs140441868	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:51868307_51868308delAG	ENST00000251076.5	-	2	445_446	c.158_159delCT	c.(157-159)gctfs	p.A53fs	DMXL2_ENST00000449909.3_Frame_Shift_Del_p.A53fs|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.A53fs|DMXL2_ENST00000560421.1_5'UTR	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	53						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TTCCATGCTTAGCACCAGGAAT	0.327																																						ENST00000251076.5		NA																	0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(157-159)gctfs		Dmx-like 2																																				SO:0001589	frameshift_variant	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51868307_51868308delAG	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.158_159delCT	15.37:g.51868307_51868308delAG	ENSP00000251076:p.Ala53fs	False	False		Somatic	1				DMXL2_ENST00000449909.3_Frame_Shift_Del_p.A53fs|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.A53fs	p.A53fs	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	WXS	Illumina HiSeq	Phase_I	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	2	445_446	-			53					B2RTR3|B7ZMH3|F5GWF1|O94938	Frame_Shift_Del	DEL	ENST00000251076.5	37	c.158_159delCT	CCDS10141.1																																																																																				0.327	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	0	NM_015263		15:51868307
TMPRSS9	360200	broad.mit.edu	37	19	2396631	2396631	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:2396631delT	ENST00000332578.3	+	2	237	c.237delT	c.(235-237)tatfs	p.Y79fs	TMPRSS9_ENST00000592650.1_3'UTR	NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	79					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGGACTATCACCGCACGC	0.672																																						ENST00000332578.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(235-237)tatfs		transmembrane protease, serine 9							28.0	24.0	25.0					19																	2396631		2203	4300	6503	SO:0001589	frameshift_variant	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2396631delT	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.237delT	19.37:g.2396631delT	ENSP00000330264:p.Tyr79fs	False	False		Somatic	1				TMPRSS9_ENST00000592650.1_3'UTR	p.Y79fs	NM_182973.1	NP_892018.1	WXS	Illumina HiSeq	Phase_I	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	237	+			79					Q6ZND6|Q7Z411	Frame_Shift_Del	DEL	ENST00000332578.3	37	c.237delT	CCDS12088.1																																																																																				0.672	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	0	NM_182973		19:2396631
CA5B	11238	broad.mit.edu	37	X	15768189	15768189	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:15768189delC	ENST00000318636.3	+	2	179	c.43delC	c.(43-45)ccafs	p.P15fs	CA5B_ENST00000380313.1_3'UTR|CA5B_ENST00000454127.2_Frame_Shift_Del_p.P15fs	NM_007220.3	NP_009151.1	Q8WTZ4	CA5BL_HUMAN	carbonic anhydrase VB, mitochondrial	0						mitochondrion (GO:0005739)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.P15A(1)		endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					TCAAGCCTCTCCAGGCAAATT	0.468																																						ENST00000318636.3		NA																	1	Substitution - Missense(1)	p.P15A(1)	endometrium(1)	endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9						c.(43-45)ccafs		carbonic anhydrase VB, mitochondrial							119.0	116.0	117.0					X																	15768189		2203	4300	6503	SO:0001589	frameshift_variant	11238				one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding	g.chrX:15768189delC	AB021660	CCDS14171.1	Xp22.1	2008-08-13			ENSG00000169239	ENSG00000169239		"""Carbonic anhydrases"""	1378	protein-coding gene	gene with protein product		300230				10409679	Standard	XM_005274442		Approved		uc004cxe.3	Q9Y2D0	OTTHUMG00000021183	ENST00000318636.3:c.43delC	X.37:g.15768189delC	ENSP00000314099:p.Pro15fs	False	False		Somatic	2				CA5B_ENST00000380313.1_3'UTR|CA5B_ENST00000454127.2_Frame_Shift_Del_p.P15fs	p.P15fs	NM_007220.3	NP_009151.1	WXS	Illumina HiSeq	Phase_I	Q9Y2D0	CAH5B_HUMAN			2	179	+	Hepatocellular(33;0.183)		15					A6NEZ4	Frame_Shift_Del	DEL	ENST00000318636.3	37	c.43delC	CCDS14171.1																																																																																				0.468	CA5B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354933.1	0	NM_007220		X:15768189
FAM122B	159090	broad.mit.edu	37	X	133927918	133927919	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:133927918_133927919insT	ENST00000370790.1	-	2	1031_1032	c.103_104insA	c.(103-105)cttfs	p.L35fs	FAM122B_ENST00000343004.5_Frame_Shift_Ins_p.L35fs|FAM122B_ENST00000486347.1_Frame_Shift_Ins_p.L35fs|FAM122B_ENST00000493333.1_5'UTR|FAM122C_ENST00000414371.2_5'Flank|FAM122B_ENST00000298090.6_Frame_Shift_Ins_p.L35fs	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	35										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					AACCTGTGAAAGGTCACTGAAA	0.327																																						ENST00000370790.1		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6						c.(103-105)cttfs		family with sequence similarity 122B																																				SO:0001589	frameshift_variant	159090							g.chrX:133927918_133927919insT	BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.103_104insA	X.37:g.133927918_133927919insT	ENSP00000359826:p.Leu35fs	True	False		Somatic	0				FAM122B_ENST00000343004.5_Frame_Shift_Ins_p.L35fs|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000298090.6_Frame_Shift_Ins_p.L35fs|FAM122B_ENST00000486347.1_Frame_Shift_Ins_p.L35fs	p.L35fs	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	WXS	Illumina HiSeq	Phase_I	Q7Z309	F122B_HUMAN			2	1031_1032	-	Acute lymphoblastic leukemia(192;0.000127)		35					A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Frame_Shift_Ins	INS	ENST00000370790.1	37	c.103_104insA	CCDS55497.1																																																																																				0.327	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058382.1	0	NM_145284		X:133927918
FAM122B	159090	broad.mit.edu	37	X	133927920	133927921	+	Frame_Shift_Ins	INS	-	-	AGTTCTTTCTTAAAATGATGTGCTA			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:133927920_133927921insAGTTCTTTCTTAAAATGATGTGCTA	ENST00000370790.1	-	2	1029_1030	c.101_102insTAGCACATCATTTTAAGAAAGAACT	c.(100-102)gacfs	p.-34fs	FAM122B_ENST00000343004.5_Frame_Shift_Ins_p.-34fs|FAM122B_ENST00000486347.1_Frame_Shift_Ins_p.-34fs|FAM122B_ENST00000493333.1_5'UTR|FAM122C_ENST00000414371.2_5'Flank|FAM122B_ENST00000298090.6_Frame_Shift_Ins_p.-34fs	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CCTGTGAAAGGTCACTGAAAAA	0.322																																						ENST00000370790.1		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6						c.(100-102)gacfs		family with sequence similarity 122B																																				SO:0001589	frameshift_variant	159090							g.chrX:133927920_133927921insAGTTCTTTCTTAAAATGATGTGCTA	BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.101_102insTAGCACATCATTTTAAGAAAGAACT	X.37:g.133927920_133927921insAGTTCTTTCTTAAAATGATGTGCTA	ENSP00000359826:p.Asp34fs	False	False		Somatic	0				FAM122B_ENST00000343004.5_Frame_Shift_Ins_p.-34fs|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000298090.6_Frame_Shift_Ins_p.-34fs|FAM122B_ENST00000486347.1_Frame_Shift_Ins_p.-34fs	p.-34fs	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	WXS	Illumina HiSeq	Phase_I	Q7Z309	F122B_HUMAN			2	1029_1030	-	Acute lymphoblastic leukemia(192;0.000127)		NA					A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Frame_Shift_Ins	INS	ENST00000370790.1	37	c.101_102insTAGCACATCATTTTAAGAAAGAACT	CCDS55497.1																																																																																				0.322	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058382.1	0	NM_145284		X:133927920
REV3L	5980	broad.mit.edu	37	6	111726826	111726827	+	Frame_Shift_Ins	INS	-	-	CGAAAAGCAAGAAGGAAAAGTAAGGTTA			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:111726826_111726827insCGAAAAGCAAGAAGGAAAAGTAAGGTTA	ENST00000358835.3	-	5	865_866	c.411_412insTAACCTTACTTTTCCTTCTTGCTTTTCG	c.(409-414)tgtgaafs	p.E138fs	REV3L_ENST00000435970.1_Frame_Shift_Ins_p.E60fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.E138fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.E138fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	138					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGCAAAAGTTCACATATCCTAA	0.307								DNA polymerases (catalytic subunits)																														ENST00000358835.3		NA																	0				NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88						c.(409-414)tgtgaafs	DNA polymerases (catalytic subunits)	REV3-like, polymerase (DNA directed), zeta, catalytic subunit																																				SO:0001589	frameshift_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111726826_111726827insCGAAAAGCAAGAAGGAAAAGTAAGGTTA	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.411_412insTAACCTTACTTTTCCTTCTTGCTTTTCG	6.37:g.111726826_111726827insCGAAAAGCAAGAAGGAAAAGTAAGGTTA	ENSP00000351697:p.Glu138fs	False	False		Somatic	0				REV3L_ENST00000368805.1_Frame_Shift_Ins_p.E138fs|REV3L_ENST00000435970.1_Frame_Shift_Ins_p.E60fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.E138fs	p.E138fs			WXS	Illumina HiSeq	Phase_I	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	5	865_866	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	138					O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	c.411_412insTAACCTTACTTTTCCTTCTTGCTTTTCG	CCDS5091.2																																																																																				0.307	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	0	NM_002912		6:111726826
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
ZMIZ2	83637	broad.mit.edu	37	7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	rs557719047|rs142075074|rs371185257	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4		NA																	2	Substitution - Missense(1)|Deletion - In frame(1)	p.A164G(1)|p.A147_A155del(1)	large_intestine(1)|breast(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel		zinc finger, MIZ-type containing 2																																				SO:0001651	inframe_deletion	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	7.37:g.44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENSP00000311778:p.Val153_Thr167del	False	False		Somatic	1				ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del	p.VAAAAATATATATAT153del	NM_031449.3	NP_113637.3	WXS	Illumina HiSeq	Phase_I	Q8NF64	ZMIZ2_HUMAN			5	580_624	+			153			Ala-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	In_Frame_Del	DEL	ENST00000309315.4	37	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	CCDS43576.1																																																																																				0.678	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	0	NM_031449		7:44797065
TEX15	56154	broad.mit.edu	37	8	30694422	30694423	+	In_Frame_Ins	INS	-	-	TTTATTGAGTTGTTA	rs200796845		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:30694422_30694423insTTTATTGAGTTGTTA	ENST00000256246.2	-	3	8302_8303	c.8228_8229insTAACAACTCAATAAA	c.(8227-8229)cgg>cgTAACAACTCAATAAAg	p.2743_2744insNNSIK		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAATTGGCTGCCGAAAATTAGA	0.406																																						ENST00000256246.2		NA																	0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(8227-8229)cgg>cgTAACAACTCAATAAAg		testis expressed 15																																				SO:0001652	inframe_insertion	56154							g.chr8:30694422_30694423insTTTATTGAGTTGTTA	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8228_8229insTAACAACTCAATAAA	8.37:g.30694422_30694423insTTTATTGAGTTGTTA	ENSP00000256246:p.Arg2743_Gln2744insAsnAsnSerIleLys	False	False		Somatic	0					p.2743_2744insNNSIK	NM_031271.3	NP_112561.2	WXS	Illumina HiSeq	Phase_I	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	8302_8303	-			2743						In_Frame_Ins	INS	ENST00000256246.2	37	c.8228_8229insTAACAACTCAATAAA	CCDS6080.1																																																																																				0.406	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	0			8:30694422
TEX15	56154	broad.mit.edu	37	8	30694423	30694424	+	Frame_Shift_Ins	INS	-	-	TTTTAACTGTGTCCATTTATGTAAGT			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:30694423_30694424insTTTTAACTGTGTCCATTTATGTAAGT	ENST00000256246.2	-	3	8301_8302	c.8227_8228insACTTACATAAATGGACACAGTTAAAA	c.(8227-8229)cggfs	p.R2743fs		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTGGCTGCCGAAAATTAGAA	0.411																																						ENST00000256246.2		NA																	0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(8227-8229)cggfs		testis expressed 15																																				SO:0001589	frameshift_variant	56154							g.chr8:30694423_30694424insTTTTAACTGTGTCCATTTATGTAAGT	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.8227_8228insACTTACATAAATGGACACAGTTAAAA	8.37:g.30694423_30694424insTTTTAACTGTGTCCATTTATGTAAGT	ENSP00000256246:p.Arg2743fs	True	False		Somatic	0					p.R2743fs	NM_031271.3	NP_112561.2	WXS	Illumina HiSeq	Phase_I	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	8301_8302	-			2743						Frame_Shift_Ins	INS	ENST00000256246.2	37	c.8227_8228insACTTACATAAATGGACACAGTTAAAA	CCDS6080.1																																																																																				0.411	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1	0			8:30694423
C9orf3	84909	broad.mit.edu	37	9	97522552	97522553	+	Frame_Shift_Ins	INS	-	-	GTTGTCATGGTTACCATCTTTATCAGAAGTAT			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:97522552_97522553insGTTGTCATGGTTACCATCTTTATCAGAAGTAT	ENST00000375315.2	+	1	487_488	c.487_488insGTTGTCATGGTTACCATCTTTATCAGAAGTAT	c.(487-489)gctfs	p.A163fs	C9orf3_ENST00000277198.2_Frame_Shift_Ins_p.A163fs|C9orf3_ENST00000297979.5_Frame_Shift_Ins_p.A163fs	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	163					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGATGTTGCTGCTGTGCCAGGT	0.46																																						ENST00000297979.5		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(487-489)gctfs		chromosome 9 open reading frame 3																																				SO:0001589	frameshift_variant	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522552_97522553insGTTGTCATGGTTACCATCTTTATCAGAAGTAT	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	Exception_encountered	9.37:g.97522552_97522553insGTTGTCATGGTTACCATCTTTATCAGAAGTAT	ENSP00000364464:p.Ala163fs	False	False		Somatic	0				C9orf3_ENST00000375315.2_Frame_Shift_Ins_p.A163fs|C9orf3_ENST00000277198.2_Frame_Shift_Ins_p.A163fs	p.A163fs	NM_032823.5	NP_116212.3	WXS	Illumina HiSeq	Phase_I	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	2	662_663	+			163					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Frame_Shift_Ins	INS	ENST00000375315.2	37	c.487_488insGTTGTCATGGTTACCATCTTTATCAGAAGTAT	CCDS55328.1																																																																																				0.460	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_032823		9:97522552
LGSN	51557	broad.mit.edu	37	6	63990012	63990012	+	Nonsense_Mutation	SNP	G	G	A	rs371133744		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:63990012G>A	ENST00000370657.4	-	4	1477	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	482					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACAAAATATCGAATAAAGGTT	0.378																																						ENST00000370657.4		NA																	0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1444-1446)Cga>Tga		lengsin, lens protein with glutamine synthetase domain	L-Glutamic Acid(DB00142)						74.0	78.0	76.0					6																	63990012		2203	4300	6503	SO:0001587	stop_gained	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990012G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1444C>T	6.37:g.63990012G>A	ENSP00000359691:p.Arg482*	False	False		Somatic	0				LGSN_ENST00000370658.5_3'UTR	p.R482*			WXS	Illumina HiSeq	Phase_I	Q5TDP6	LGSN_HUMAN			4	1477	-			482					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	ENST00000370657.4	37	c.1444C>T	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373680	0.61624	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.7	3.86	0.44501	.	0.362303	0.32884	N	0.005523	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.5437	14.1084	0.65107	0.0:0.0:0.6109:0.3891	.	.	.	.	X	482	.	ENSP00000359691:R482X	R	-	1	2	LGSN	64047971	1.000000	0.71417	0.856000	0.33681	0.358000	0.29455	4.385000	0.59613	0.703000	0.31848	0.655000	0.94253	CGA		0.378	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	0	NM_016571		6:63990012
DBT	1629	broad.mit.edu	37	1	100681577	100681577	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:100681577G>A	ENST00000370132.4	-	6	747	c.734C>T	c.(733-735)cCg>cTg	p.P245L	DBT_ENST00000370131.3_Missense_Mutation_p.P245L	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	245					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity (GO:0043754)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TGTGAATACCGGAGGTTTTGA	0.388																																						ENST00000370132.4		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19						c.(733-735)cCg>cTg		dihydrolipoamide branched chain transacylase E2							235.0	232.0	233.0					1																	100681577		2203	4300	6503	SO:0001583	missense	1629				branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	g.chr1:100681577G>A	BC016675	CCDS767.1	1p31	2008-02-05	2004-11-15		ENSG00000137992	ENSG00000137992			2698	protein-coding gene	gene with protein product		248610	"""dihydrolipoamide branched chain transacylase (E2 component of branched chain keto acid dehydrogenase complex; maple syrup urine disease)"""			1420314, 1429740	Standard	NM_001918		Approved		uc001dta.3	P11182	OTTHUMG00000010921	ENST00000370132.4:c.734C>T	1.37:g.100681577G>A	ENSP00000359151:p.Pro245Leu	False	False		Somatic	0				DBT_ENST00000370131.3_Missense_Mutation_p.P245L	p.P245L	NM_001918.3	NP_001909.3	WXS	Illumina HiSeq	Phase_I	P11182	ODB2_HUMAN		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)	6	747	-		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	NA					B2R811|Q5VVL8	Missense_Mutation	SNP	ENST00000370132.4	37	c.734C>T	CCDS767.1	.	.	.	.	.	.	.	.	.	.	g	3.697	-0.062301	0.07317	.	.	ENSG00000137992	ENST00000543138;ENST00000370132;ENST00000370131	T;T	0.34275	1.37;1.37	5.66	0.124	0.14714	Chloramphenicol acetyltransferase-like domain (1);	0.712173	0.14328	N	0.326549	T	0.05227	0.0139	N	0.14661	0.345	0.19945	N	0.999947	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.40534	-0.9558	10	0.16420	T	0.52	1.0E-4	4.1964	0.10445	0.5271:0.0:0.3072:0.1657	.	64;245	F5H1F9;P11182	.;ODB2_HUMAN	L	64;245;245	ENSP00000359151:P245L;ENSP00000359150:P245L	ENSP00000359150:P245L	P	-	2	0	DBT	100454165	0.017000	0.18338	0.003000	0.11579	0.011000	0.07611	0.567000	0.23608	0.358000	0.24211	-0.150000	0.13652	CCG		0.388	DBT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030101.2	0	NM_001918		1:100681577
FYCO1	79443	broad.mit.edu	37	3	46000100	46000100	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:46000100C>T	ENST00000296137.2	-	13	3804	c.3599G>A	c.(3598-3600)cGc>cAc	p.R1200H	FYCO1_ENST00000438446.1_5'UTR|FYCO1_ENST00000535325.1_Missense_Mutation_p.R1200H	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1200					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		ACAGAAGATGCGGCCACATAT	0.532																																						ENST00000296137.2		NA																	0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3598-3600)cGc>cAc		FYVE and coiled-coil domain containing 1							65.0	65.0	65.0					3																	46000100		2203	4300	6503	SO:0001583	missense	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46000100C>T	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3599G>A	3.37:g.46000100C>T	ENSP00000296137:p.Arg1200His	False	False		Somatic	0				FYCO1_ENST00000438446.1_5'UTR|FYCO1_ENST00000535325.1_Missense_Mutation_p.R1200H	p.R1200H	NM_024513.3	NP_078789.2	WXS	Illumina HiSeq	Phase_I	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	13	3804	-			1200					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	c.3599G>A	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437129	0.62955	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.73258	-0.73;-0.73	5.73	3.95	0.45737	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE-type (2);Zinc finger, FYVE-related (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	L	0.60067	1.865	0.49483	D	0.999799	P;P	0.48911	0.798;0.917	B;P	0.45037	0.229;0.467	T	0.65134	-0.6242	9	.	.	.	-9.3005	10.0647	0.42297	0.0:0.8454:0.0:0.1546	.	1200;1200	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	H	1200	ENSP00000296137:R1200H;ENSP00000441178:R1200H	.	R	-	2	0	FYCO1	45975104	1.000000	0.71417	0.970000	0.41538	0.999000	0.98932	2.845000	0.48254	0.782000	0.33613	0.650000	0.86243	CGC		0.532	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	0	NM_024513		3:46000100
LPCAT2	54947	broad.mit.edu	37	16	55579653	55579653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:55579653C>T	ENST00000262134.5	+	9	1043	c.859C>T	c.(859-861)Cca>Tca	p.P287S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	287					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCAGTTTATGCCAGTTCAAGT	0.289																																						ENST00000262134.5		NA																	0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						c.(859-861)Cca>Tca		lysophosphatidylcholine acyltransferase 2							95.0	95.0	95.0					16																	55579653		2198	4300	6498	SO:0001583	missense	54947				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding	g.chr16:55579653C>T	AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.859C>T	16.37:g.55579653C>T	ENSP00000262134:p.Pro287Ser	False	False		Somatic	0					p.P287S	NM_017839.4	NP_060309.2	WXS	Illumina HiSeq	Phase_I	Q7L5N7	PCAT2_HUMAN			9	1043	+			287					A3KBM1|Q6MZJ6|Q9NX23	Missense_Mutation	SNP	ENST00000262134.5	37	c.859C>T	CCDS10753.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935213	0.92458	.	.	ENSG00000087253	ENST00000262134	D	0.93906	-3.31	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	M	0.93898	3.47	0.80722	D	1	D	0.65815	0.995	P	0.55965	0.788	D	0.97520	1.0072	10	0.87932	D	0	-16.5825	20.1358	0.98028	0.0:1.0:0.0:0.0	.	287	Q7L5N7	PCAT2_HUMAN	S	287	ENSP00000262134:P287S	ENSP00000262134:P287S	P	+	1	0	LPCAT2	54137154	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.876000	0.63079	2.865000	0.98341	0.655000	0.94253	CCA		0.289	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256977.2	0	NM_017839		16:55579653
GTSF1	121355	broad.mit.edu	37	12	54858949	54858949	+	Missense_Mutation	SNP	C	C	T	rs199823357	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:54858949C>T	ENST00000552397.1	-	3	915	c.19G>A	c.(19-21)Gac>Aac	p.D7N	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N|GTSF1_ENST00000552395.1_Intron			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	7						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TCCAGGGAGTCGGCTGAAAGA	0.428													C|||	5	0.000998403	0.003	0.0014	5008	,	,		14400	0.0		0.0	False		,,,				2504	0.0					ENST00000552397.1		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						c.(19-21)Gac>Aac		gametocyte specific factor 1		C	ASN/ASP	1,4405		0,1,2202	110.0	103.0	106.0		19	5.6	1.0	12		106	0,8600		0,0,4300	yes	missense	GTSF1	NM_144594.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	7/168	54858949	1,13005	2203	4300	6503	SO:0001583	missense	121355						metal ion binding	g.chr12:54858949C>T	AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.19G>A	12.37:g.54858949C>T	ENSP00000446485:p.Asp7Asn	False	False		Somatic	0				GTSF1_ENST00000305879.5_Missense_Mutation_p.D7N|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_Intron|RP11-753H16.5_ENST00000552785.1_RNA	p.D7N			WXS	Illumina HiSeq	Phase_I	Q8WW33	GTSF1_HUMAN			3	915	-		Myeloproliferative disorder(1001;0.00452)	7					B3KQ60|Q0VGM4|Q8N778	Missense_Mutation	SNP	ENST00000552397.1	37	c.19G>A	CCDS8881.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672837	0.88445	2.27E-4	0.0	ENSG00000170627	ENST00000552397;ENST00000305879	T;T	0.54071	0.59;0.59	5.57	5.57	0.84162	.	0.152500	0.56097	D	0.000021	T	0.59878	0.2226	M	0.68952	2.095	0.47621	D	0.999471	D	0.63046	0.992	P	0.48454	0.578	T	0.59451	-0.7452	10	0.37606	T	0.19	-22.3962	17.4106	0.87484	0.0:1.0:0.0:0.0	.	7	Q8WW33	GTSF1_HUMAN	N	7	ENSP00000446485:D7N;ENSP00000304185:D7N	ENSP00000304185:D7N	D	-	1	0	GTSF1	53145216	0.979000	0.34478	0.999000	0.59377	0.916000	0.54674	2.429000	0.44758	2.785000	0.95823	0.655000	0.94253	GAC		0.428	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406187.1	0	NM_144594		12:54858949
MTNR1B	4544	broad.mit.edu	37	11	92715132	92715132	+	Missense_Mutation	SNP	G	G	A	rs150751119		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:92715132G>A	ENST00000257068.2	+	2	749	c.743G>A	c.(742-744)cGg>cAg	p.R248Q		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	248					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	AGCGACTTGCGGAGCTTTCTA	0.572																																						ENST00000257068.2		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(742-744)cGg>cAg		melatonin receptor 1B	Ramelteon(DB00980)	G	GLN/ARG	0,4402		0,0,2201	114.0	94.0	101.0		743	4.2	1.0	11	dbSNP_134	101	1,8595	1.2+/-3.3	0,1,4297	no	missense	MTNR1B	NM_005959.3	43	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	248/363	92715132	1,12997	2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715132G>A	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.743G>A	11.37:g.92715132G>A	ENSP00000257068:p.Arg248Gln	False	False		Somatic	0					p.R248Q	NM_005959.3	NP_005950.1	WXS	Illumina HiSeq	Phase_I	P49286	MTR1B_HUMAN			2	749	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	248						Missense_Mutation	SNP	ENST00000257068.2	37	c.743G>A	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	31	5.069708	0.93950	0.0	1.16E-4	ENSG00000134640	ENST00000257068	T	0.40225	1.04	4.21	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.59528	0.2200	M	0.84683	2.71	0.80722	D	1	D	0.57257	0.979	P	0.51170	0.661	T	0.70923	-0.4740	10	0.72032	D	0.01	-22.6709	17.1314	0.86727	0.0:0.0:1.0:0.0	.	248	P49286	MTR1B_HUMAN	Q	248	ENSP00000257068:R248Q	ENSP00000257068:R248Q	R	+	2	0	MTNR1B	92354780	1.000000	0.71417	0.990000	0.47175	0.851000	0.48451	4.111000	0.57838	2.338000	0.79540	0.491000	0.48974	CGG		0.572	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1	0			11:92715132
DCLK1	9201	broad.mit.edu	37	13	36445384	36445384	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:36445384T>G	ENST00000360631.3	-	5	1128	c.917A>C	c.(916-918)aAg>aCg	p.K306T	DCLK1_ENST00000379892.4_Missense_Mutation_p.K306T|DCLK1_ENST00000255448.4_Missense_Mutation_p.K306T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	306	Pro/Ser-rich.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GGCAGGGGACTTGCTACGCCT	0.532																																						ENST00000255448.4		NA																	0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(916-918)aAg>aCg		doublecortin-like kinase 1							198.0	187.0	191.0					13																	36445384		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36445384T>G	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.917A>C	13.37:g.36445384T>G	ENSP00000353846:p.Lys306Thr	False	False		Somatic	0				DCLK1_ENST00000360631.3_Missense_Mutation_p.K306T|DCLK1_ENST00000379892.4_Missense_Mutation_p.K306T	p.K306T	NM_004734.4	NP_004725.1	WXS	Illumina HiSeq	Phase_I	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	5	1128	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	306			Pro/Ser-rich.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.917A>C		.	.	.	.	.	.	.	.	.	.	T	21.3	4.125614	0.77436	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.68765	-0.35;-0.35;1.65	5.28	5.28	0.74379	.	0.112949	0.64402	D	0.000015	T	0.80894	0.4711	M	0.75777	2.31	0.53688	D	0.999973	D	0.76494	0.999	D	0.72982	0.979	T	0.82244	-0.0553	10	0.51188	T	0.08	.	15.5029	0.75713	0.0:0.0:0.0:1.0	.	306	O15075-2	.	T	306	ENSP00000255448:K306T;ENSP00000353846:K306T;ENSP00000369222:K306T	ENSP00000255448:K306T	K	-	2	0	DCLK1	35343384	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	5.611000	0.67674	2.115000	0.64714	0.533000	0.62120	AAG		0.532	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	0	NM_004734		13:36445384
TLN2	83660	broad.mit.edu	37	15	63053934	63053934	+	Missense_Mutation	SNP	G	G	A	rs143603462		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:63053934G>A	ENST00000561311.1	+	37	4923	c.4693G>A	c.(4693-4695)Gca>Aca	p.A1565T	TLN2_ENST00000472902.1_5'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.A1565T			Q9Y4G6	TLN2_HUMAN	talin 2	1565					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CATCGCCACCGCACCCTTGAT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		20035	0.0		0.001	False		,,,				2504	0.0					ENST00000561311.1		NA																	0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(4693-4695)Gca>Aca		talin 2		G	THR/ALA	0,4406		0,0,2203	175.0	152.0	160.0		4693	3.5	0.2	15	dbSNP_134	160	2,8598	2.2+/-6.3	0,2,4298	no	missense	TLN2	NM_015059.2	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	1565/2543	63053934	2,13004	2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63053934G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4693G>A	15.37:g.63053934G>A	ENSP00000453508:p.Ala1565Thr	False	False		Somatic	0				TLN2_ENST00000472902.1_5'UTR|TLN2_ENST00000306829.6_Missense_Mutation_p.A1565T	p.A1565T			WXS	Illumina HiSeq	Phase_I	Q9Y4G6	TLN2_HUMAN			37	4923	+			1565					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4693G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	4.423	0.078267	0.08485	0.0	2.33E-4	ENSG00000171914	ENST00000306829	T	0.68624	-0.34	5.41	3.52	0.40303	.	0.314633	0.39274	N	0.001410	T	0.47229	0.1434	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23404	-1.0189	10	0.15499	T	0.54	-9.4852	6.1601	0.20360	0.1566:0.0:0.6934:0.15	.	1565	Q9Y4G6	TLN2_HUMAN	T	1565	ENSP00000303476:A1565T	ENSP00000303476:A1565T	A	+	1	0	TLN2	60841226	0.609000	0.26975	0.181000	0.23098	0.039000	0.13416	1.968000	0.40500	0.641000	0.30601	0.563000	0.77884	GCA		0.522	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	0			15:63053934
MAP7	9053	broad.mit.edu	37	6	136742933	136742933	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:136742933G>A	ENST00000354570.3	-	2	482	c.72C>T	c.(70-72)ccC>ccT	p.P24P	MAP7_ENST00000438100.2_Silent_p.P46P|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Silent_p.P9P|MAP7_ENST00000454590.1_Silent_p.P46P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	24					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|establishment or maintenance of cell polarity (GO:0007163)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells (GO:0048872)|Leydig cell differentiation (GO:0033327)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nucleus organization (GO:0006997)|organ growth (GO:0035265)|protein localization to plasma membrane (GO:0072659)|response to osmotic stress (GO:0006970)|response to retinoic acid (GO:0032526)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGTAGCTGTCGGGTGCTACAG	0.373																																						ENST00000354570.3		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(70-72)ccC>ccT		microtubule-associated protein 7							101.0	99.0	100.0					6																	136742933		2203	4300	6503	SO:0001819	synonymous_variant	9053				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	g.chr6:136742933G>A	X73882	CCDS5178.1, CCDS56452.1, CCDS56453.1, CCDS56454.1, CCDS56455.1, CCDS75527.1, CCDS75528.1, CCDS75529.1	6q23.2	2008-07-28			ENSG00000135525	ENSG00000135525			6869	protein-coding gene	gene with protein product		604108				8408219	Standard	NM_003980		Approved	E-MAP-115	uc011edg.2	Q14244	OTTHUMG00000015646	ENST00000354570.3:c.72C>T	6.37:g.136742933G>A		True	False		Somatic	0				MAP7_ENST00000438100.2_Silent_p.P46P|MAP7_ENST00000454590.1_Silent_p.P46P|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000544465.1_Silent_p.P9P	p.P24P	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	WXS	Illumina HiSeq	Phase_I	Q14244	MAP7_HUMAN		GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)	2	482	-	Colorectal(23;0.24)		24					B7Z290|B7Z400|B7Z5S7|B7Z9U7|C9JPS0|E9PCP3|F5H1E2|Q7Z6S0|Q8TAU5|Q9NY82|Q9NY83	Silent	SNP	ENST00000354570.3	37	c.72C>T	CCDS5178.1																																																																																				0.373	MAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042382.2	0	NM_003980		6:136742933
STK11IP	114790	broad.mit.edu	37	2	220479983	220479983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:220479983C>T	ENST00000456909.1	+	24	3127	c.3037C>T	c.(3037-3039)Cag>Tag	p.Q1013*	STK11IP_ENST00000295641.10_Nonsense_Mutation_p.Q1024*			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1024					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCAGGGAGCAGCAGCCACT	0.647																																						ENST00000456909.1		NA																	0				breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23						c.(3037-3039)Cag>Tag		serine/threonine kinase 11 interacting protein							16.0	19.0	18.0					2																	220479983		2089	4208	6297	SO:0001587	stop_gained	114790				protein localization	cytoplasm	protein kinase binding	g.chr2:220479983C>T	AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.3037C>T	2.37:g.220479983C>T	ENSP00000389383:p.Gln1013*	True	False		Somatic	0				STK11IP_ENST00000295641.10_Nonsense_Mutation_p.Q1024*	p.Q1013*			WXS	Illumina HiSeq	Phase_I	Q8N1F8	S11IP_HUMAN		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	24	3127	+		Renal(207;0.0183)	1024					Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Nonsense_Mutation	SNP	ENST00000456909.1	37	c.3037C>T		.	.	.	.	.	.	.	.	.	.	C	16.41	3.116420	0.56505	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	.	.	.	4.53	4.53	0.55603	.	0.160319	0.38959	N	0.001506	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	-14.4814	12.6615	0.56815	0.0:1.0:0.0:0.0	.	.	.	.	X	1013;1024	.	ENSP00000295641:Q1024X	Q	+	1	0	STK11IP	220188227	1.000000	0.71417	1.000000	0.80357	0.610000	0.37248	1.799000	0.38824	2.363000	0.80096	0.561000	0.74099	CAG		0.647	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	0	NM_052902		2:220479983
HMGB3	3149	broad.mit.edu	37	X	150156378	150156378	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:150156378G>T	ENST00000325307.7	+	5	690	c.594G>T	c.(592-594)gaG>gaT	p.E198D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	198	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaTGAATAAA	0.463																																						ENST00000325307.7		NA																	0				endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(592-594)gaG>gaT		high mobility group box 3							49.0	48.0	49.0					X																	150156378		2203	4299	6502	SO:0001583	missense	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156378G>T	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.594G>T	X.37:g.150156378G>T	ENSP00000359393:p.Glu198Asp	True	False		Somatic	0				HMGB3_ENST00000448905.2_Missense_Mutation_p.E198D	p.E198D	NM_005342.2	NP_005333.2	WXS	Illumina HiSeq	Phase_I	O15347	HMGB3_HUMAN			5	690	+	Acute lymphoblastic leukemia(192;6.56e-05)		198			Asp/Glu-rich (acidic).		O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	37	c.594G>T	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	g	0.347	-0.947364	0.02304	.	.	ENSG00000029993	ENST00000325307;ENST00000448905	T;T	0.35048	1.33;1.33	4.84	-6.29	0.02013	.	0.320496	0.22526	N	0.058902	T	0.10208	0.0250	N	0.08118	0	0.20764	N	0.999851	B	0.02656	0.0	B	0.01281	0.0	T	0.15636	-1.0430	9	.	.	.	.	0.6043	0.00750	0.3103:0.1878:0.1198:0.3821	.	198	O15347	HMGB3_HUMAN	D	198	ENSP00000359393:E198D;ENSP00000442758:E198D	.	E	+	3	2	HMGB3	149907036	0.210000	0.23517	0.059000	0.19551	0.160000	0.22226	0.068000	0.14531	-1.155000	0.02822	0.600000	0.82982	GAG		0.463	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	0	NM_005342		X:150156378
TNXB	7148	broad.mit.edu	37	6	32064921	32064921	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:32064921C>T	ENST00000479795.1	-	3	849	c.709G>A	c.(709-711)Gca>Aca	p.A237T	TNXB_ENST00000375244.3_Missense_Mutation_p.A237T|TNXB_ENST00000375247.2_Missense_Mutation_p.A237T			P22105	TENX_HUMAN	tenascin XB	237	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGAAGCCTGCCCGGCACACA	0.701																																						ENST00000375244.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(709-711)Gca>Aca		tenascin XB							20.0	24.0	23.0					6																	32064921		2145	4231	6376	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32064921C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.709G>A	6.37:g.32064921C>T	ENSP00000418248:p.Ala237Thr	True	False		Somatic	0				TNXB_ENST00000479795.1_Missense_Mutation_p.A237T|TNXB_ENST00000375247.2_Missense_Mutation_p.A237T	p.A237T			WXS	Illumina HiSeq	Phase_I	P22105	TENX_HUMAN			3	910	-			237			EGF-like 3.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000479795.1	37	c.709G>A		.	.	.	.	.	.	.	.	.	.	C	0.442	-0.898065	0.02472	.	.	ENSG00000168477	ENST00000375244;ENST00000375247;ENST00000479795	T;T;T	0.11277	3.88;3.88;2.79	4.22	0.161	0.14977	.	0.689881	0.12572	N	0.457242	T	0.02047	0.0064	L	0.31294	0.92	0.09310	N	1	B	0.28419	0.211	B	0.26094	0.066	T	0.44528	-0.9322	10	0.44086	T	0.13	.	4.2281	0.10590	0.154:0.3014:0.452:0.0926	.	237	P22105-3	.	T	237	ENSP00000364393:A237T;ENSP00000364396:A237T;ENSP00000418248:A237T	ENSP00000364393:A237T	A	-	1	0	TNXB	32172899	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.163000	0.09997	-0.190000	0.10465	0.655000	0.94253	GCA		0.701	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000357059.1	0	NM_019105		6:32064921
SLC34A2	10568	broad.mit.edu	37	4	25674740	25674740	+	Silent	SNP	G	G	A	rs546457472		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:25674740G>A	ENST00000382051.3	+	10	1130	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P	SLC34A2_ENST00000504570.1_Silent_p.P359P|SLC34A2_ENST00000503434.1_Silent_p.P359P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	360					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TCCACCTCCCGGATCTTGCTG	0.512			T	ROS1	NSCLC								G|||	1	0.000199681	0.0008	0.0	5008	,	,		20622	0.0		0.0	False		,,,				2504	0.0					ENST00000382051.3		NA		Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(1078-1080)ccG>ccA		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							204.0	181.0	189.0					4																	25674740		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25674740G>A	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1080G>A	4.37:g.25674740G>A		True	False		Somatic	0				SLC34A2_ENST00000503434.1_Silent_p.P359P|SLC34A2_ENST00000504570.1_Silent_p.P359P	p.P360P	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	WXS	Illumina HiSeq	Phase_I	O95436	NPT2B_HUMAN			10	1130	+		Breast(46;0.0503)	360					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.1080G>A	CCDS3435.1																																																																																				0.512	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	0	NM_006424		4:25674740
FAM155A	728215	broad.mit.edu	37	13	108518385	108518385	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:108518385G>A	ENST00000375915.2	-	1	698	c.560C>T	c.(559-561)gCg>gTg	p.A187V		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	187						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CACCGCGTCCGCATTCTCCAC	0.652																																						ENST00000375915.2		NA																	0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(559-561)gCg>gTg		family with sequence similarity 155, member A							42.0	51.0	48.0					13																	108518385		2201	4296	6497	SO:0001583	missense	728215					integral to membrane	binding	g.chr13:108518385G>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.560C>T	13.37:g.108518385G>A	ENSP00000365080:p.Ala187Val	False	False		Somatic	0					p.A187V	NM_001080396.2	NP_001073865.1	WXS	Illumina HiSeq	Phase_I	B1AL88	F155A_HUMAN			1	698	-			187					B2RUV1|B7Z334	Missense_Mutation	SNP	ENST00000375915.2	37	c.560C>T	CCDS32006.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734242	0.48939	.	.	ENSG00000204442	ENST00000375915	T	0.11169	2.8	5.89	5.04	0.67666	.	0.189112	0.43919	D	0.000518	T	0.16981	0.0408	L	0.29908	0.895	0.44085	D	0.996848	D	0.71674	0.998	P	0.54346	0.749	T	0.01146	-1.1437	10	0.62326	D	0.03	.	15.5308	0.75960	0.0:0.0:0.8609:0.1391	.	187	B1AL88	F155A_HUMAN	V	187	ENSP00000365080:A187V	ENSP00000365080:A187V	A	-	2	0	FAM155A	107316386	1.000000	0.71417	0.980000	0.43619	0.004000	0.04260	9.147000	0.94646	1.479000	0.48272	-0.314000	0.08810	GCG		0.652	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	0	NM_001080396		13:108518385
MAP2K3	5606	broad.mit.edu	37	17	21204188	21204188	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204188G>A	ENST00000342679.4	+	5	531	c.282G>A	c.(280-282)cgG>cgA	p.R94R	MAP2K3_ENST00000316920.6_Silent_p.R65R|MAP2K3_ENST00000361818.5_Silent_p.R65R	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> L (in dbSNP:rs56067280). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCCTGCAGCGGATCCGGGCCA	0.612																																						ENST00000342679.4		NA																	0					NA						c.(280-282)cgG>cgA		mitogen-activated protein kinase kinase 3							97.0	81.0	86.0					17																	21204188		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21204188G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.282G>A	17.37:g.21204188G>A		False	False		Somatic	0				MAP2K3_ENST00000361818.5_Silent_p.R65R|MAP2K3_ENST00000316920.6_Silent_p.R65R	p.R94R	NM_145109.2	NP_659731.1	WXS	Illumina HiSeq	Phase_I	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	5	531	+			94		R -> L (in dbSNP:rs56067280).	Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.282G>A	CCDS11217.1																																																																																				0.612	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	0	NM_145109		17:21204188
ADCY6	112	broad.mit.edu	37	12	49164612	49164612	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:49164612G>A	ENST00000307885.4	-	19	3887	c.3193C>T	c.(3193-3195)Cgg>Tgg	p.R1065W	MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Missense_Mutation_p.R1012W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R1012W	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	1065					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCATGAGCCGCATGGCGTAG	0.552																																						ENST00000307885.4		NA																	0				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(3193-3195)Cgg>Tgg		adenylate cyclase 6							121.0	111.0	114.0					12																	49164612		2203	4300	6503	SO:0001583	missense	112				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	g.chr12:49164612G>A		CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.3193C>T	12.37:g.49164612G>A	ENSP00000311405:p.Arg1065Trp	False	False		Somatic	0				ADCY6_ENST00000550422.1_Missense_Mutation_p.R1012W|ADCY6_ENST00000357869.3_Missense_Mutation_p.R1012W	p.R1065W	NM_015270.3	NP_056085.1	WXS	Illumina HiSeq	Phase_I	O43306	ADCY6_HUMAN			19	3887	-			1065					Q9NR75|Q9UDB0	Missense_Mutation	SNP	ENST00000307885.4	37	c.3193C>T	CCDS8767.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109958	0.77210	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	T;T;T	0.31510	1.49;1.49;1.49	4.88	4.88	0.63580	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	T	0.57740	0.2074	M	0.85041	2.73	0.49130	D	0.999752	D;D	0.89917	1.0;0.999	D;D	0.75020	0.963;0.985	T	0.63202	-0.6690	10	0.72032	D	0.01	.	12.7647	0.57385	0.0:0.0:0.8354:0.1646	.	1012;1065	O43306-2;O43306	.;ADCY6_HUMAN	W	1012;1012;1065	ENSP00000350536:R1012W;ENSP00000446730:R1012W;ENSP00000311405:R1065W	ENSP00000311405:R1065W	R	-	1	2	ADCY6	47450879	0.952000	0.32445	1.000000	0.80357	0.994000	0.84299	1.074000	0.30703	2.649000	0.89929	0.650000	0.86243	CGG		0.552	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408863.1	0	NM_020983		12:49164612
ENO3	2027	broad.mit.edu	37	17	4857048	4857048	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:4857048G>A	ENST00000323997.6	+	6	484	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	ENO3_ENST00000518175.1_Missense_Mutation_p.V118M|ENO3_ENST00000519584.1_Missense_Mutation_p.V75M	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	118					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						GTCCTTGGCCGTGTGTAAGGC	0.612																																						ENST00000323997.6		NA																	0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(352-354)Gtg>Atg		enolase 3 (beta, muscle)							116.0	107.0	110.0					17																	4857048		2203	4300	6503	SO:0001583	missense	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4857048G>A	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.352G>A	17.37:g.4857048G>A	ENSP00000324105:p.Val118Met	True	False		Somatic	0				ENO3_ENST00000519584.1_Missense_Mutation_p.V75M|ENO3_ENST00000518175.1_Missense_Mutation_p.V118M	p.V118M	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	WXS	Illumina HiSeq	Phase_I	P13929	ENOB_HUMAN			6	484	+			118					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Missense_Mutation	SNP	ENST00000323997.6	37	c.352G>A	CCDS11062.1	.	.	.	.	.	.	.	.	.	.	G	35	5.494137	0.96339	.	.	ENSG00000108515	ENST00000522798;ENST00000519602;ENST00000323997;ENST00000522249;ENST00000519584;ENST00000518175	T;T;T;T;T;T	0.57107	1.32;1.32;1.32;1.32;0.42;1.32	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.80899	0.4712	H	0.95645	3.7	0.80722	D	1	D;D;D	0.65815	0.995;0.992;0.995	D;D;D	0.69824	0.939;0.966;0.966	D	0.86144	0.1583	10	0.87932	D	0	-17.3188	17.3501	0.87321	0.0:0.0:1.0:0.0	.	75;25;118	P13929-3;D3DTL4;D3DTL2	.;.;.	M	118;118;118;118;75;118	ENSP00000428502:V118M;ENSP00000430055:V118M;ENSP00000324105:V118M;ENSP00000428811:V118M;ENSP00000430636:V75M;ENSP00000431087:V118M	ENSP00000324105:V118M	V	+	1	0	ENO3	4797794	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.950000	0.87804	2.767000	0.95098	0.655000	0.94253	GTG		0.612	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2	0			17:4857048
RRP12	23223	broad.mit.edu	37	10	99118343	99118343	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:99118343G>A	ENST00000370992.4	-	33	3853	c.3742C>T	c.(3742-3744)Ccg>Tcg	p.P1248S	RRP12_ENST00000315563.6_Missense_Mutation_p.P1148S|RRP12_ENST00000414986.1_Missense_Mutation_p.P1187S|RRP12_ENST00000536831.1_Missense_Mutation_p.P966S|RRP12_ENST00000479481.1_5'UTR	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1248						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAGGGATCCGGCCGGCCTTTC	0.582																																						ENST00000370992.4		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3742-3744)Ccg>Tcg		ribosomal RNA processing 12 homolog (S. cerevisiae)							226.0	227.0	227.0					10																	99118343		2203	4300	6503	SO:0001583	missense	23223					integral to membrane|nuclear membrane|nucleolus	protein binding	g.chr10:99118343G>A		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3742C>T	10.37:g.99118343G>A	ENSP00000360031:p.Pro1248Ser	True	False		Somatic	0				RRP12_ENST00000414986.1_Missense_Mutation_p.P1187S|RRP12_ENST00000536831.1_Missense_Mutation_p.P966S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.P1148S	p.P1248S	NM_015179.3	NP_055994.2	WXS	Illumina HiSeq	Phase_I	Q5JTH9	RRP12_HUMAN		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)	33	3853	-		Colorectal(252;0.162)	1248					B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	c.3742C>T	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	G	6.599	0.478849	0.12581	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.31510	1.49;1.49;1.5;1.49	5.74	4.83	0.62350	.	0.779601	0.12532	N	0.460711	T	0.31888	0.0811	M	0.62723	1.935	0.09310	N	1	B;B;P;B	0.35456	0.357;0.284;0.502;0.07	B;B;B;B	0.31751	0.039;0.054;0.135;0.039	T	0.12528	-1.0544	10	0.27082	T	0.32	-0.6992	13.8073	0.63240	0.0:0.0:0.7211:0.2789	.	1187;1148;966;1248	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	S	1248;1148;1187;966	ENSP00000360031:P1248S;ENSP00000324315:P1148S;ENSP00000414863:P1187S;ENSP00000446184:P966S	ENSP00000324315:P1148S	P	-	1	0	RRP12	99108333	0.535000	0.26370	0.048000	0.18961	0.005000	0.04900	3.810000	0.55613	1.409000	0.46915	-0.314000	0.08810	CCG		0.582	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	0	NM_015179		10:99118343
AHNAK2	113146	broad.mit.edu	37	14	105417866	105417866	+	Missense_Mutation	SNP	C	C	T	rs532275274		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr14:105417866C>T	ENST00000333244.5	-	7	4041	c.3922G>A	c.(3922-3924)Gca>Aca	p.A1308T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1308						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCTGTGCGCCATCCAAC	0.597													.|||	1	0.000199681	0.0	0.0	5008	,	,		14816	0.0		0.0	False		,,,				2504	0.001					ENST00000333244.5		NA																	0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(3922-3924)Gca>Aca		AHNAK nucleoprotein 2							102.0	88.0	94.0					14																	105417866		1927	3274	5201	SO:0001583	missense	113146					nucleus		g.chr14:105417866C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3922G>A	14.37:g.105417866C>T	ENSP00000353114:p.Ala1308Thr	False	False		Somatic	0				AHNAK2_ENST00000557457.1_Intron	p.A1308T	NM_138420.2	NP_612429.2	WXS	Illumina HiSeq	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4041	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1308					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3922G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	8.821	0.937460	0.18206	.	.	ENSG00000185567	ENST00000333244	T	0.00651	5.97	3.18	-4.1	0.03940	.	.	.	.	.	T	0.00468	0.0015	L	0.27053	0.805	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.42732	-0.9434	9	0.14656	T	0.56	.	5.2254	0.15391	0.0:0.2637:0.2749:0.4614	.	1308	Q8IVF2	AHNK2_HUMAN	T	1308	ENSP00000353114:A1308T	ENSP00000353114:A1308T	A	-	1	0	AHNAK2	104488911	0.011000	0.17503	0.000000	0.03702	0.000000	0.00434	0.800000	0.27042	-2.064000	0.00888	-2.658000	0.00147	GCA		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	NM_138420		14:105417866
ADAMTS13	11093	broad.mit.edu	37	9	136310876	136310876	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:136310876G>A	ENST00000371929.3	+	21	3111	c.2667G>A	c.(2665-2667)acG>acA	p.T889T	ADAMTS13_ENST00000355699.2_Silent_p.T889T|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Silent_p.T858T|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	889					cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCATCAGGACGGGGGCTCAAG	0.677																																						ENST00000371929.3		NA																	0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36						c.(2665-2667)acG>acA		ADAM metallopeptidase with thrombospondin type 1 motif, 13							51.0	49.0	49.0					9																	136310876		2203	4300	6503	SO:0001819	synonymous_variant	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136310876G>A	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2667G>A	9.37:g.136310876G>A		True	False		Somatic	0				ADAMTS13_ENST00000356589.2_Silent_p.T858T|ADAMTS13_ENST00000355699.2_Silent_p.T889T|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	p.T889T	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	WXS	Illumina HiSeq	Phase_I	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	21	3111	+			889					Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	ENST00000371929.3	37	c.2667G>A	CCDS6970.1																																																																																				0.677	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	0	NM_139025		9:136310876
NUP98	4928	broad.mit.edu	37	11	3697456	3697456	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:3697456T>C	ENST00000324932.7	-	33	5756	c.5336A>G	c.(5335-5337)tAt>tGt	p.Y1779C	NUP98_ENST00000355260.3_Missense_Mutation_p.Y1705C|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1796					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTCCATGGCATAGTCCTCAGG	0.592			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	ENST00000324932.7		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(5335-5337)tAt>tGt		nucleoporin 98kDa							91.0	87.0	89.0					11																	3697456		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3697456T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.5336A>G	11.37:g.3697456T>C	ENSP00000316032:p.Tyr1779Cys	False	False		Somatic	0				NUP98_ENST00000355260.3_Missense_Mutation_p.Y1705C|NUP98_ENST00000359171.4_3'UTR	p.Y1779C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	WXS	Illumina HiSeq	Phase_I	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	33	5756	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	1796					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.5336A>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410072	0.62399	.	.	ENSG00000110713	ENST00000324932;ENST00000355260	.	.	.	5.65	5.65	0.86999	.	0.218936	0.33144	N	0.005228	T	0.75436	0.3849	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.75374	-0.3340	9	0.44086	T	0.13	-11.2226	14.719	0.69291	0.0:0.0:0.0:1.0	.	1705;1779;1693	P52948-2;P52948-5;P52948-6	.;.;.	C	1779;1705	.	ENSP00000316032:Y1779C	Y	-	2	0	NUP98	3654032	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.619000	0.83057	2.161000	0.67846	0.454000	0.30748	TAT		0.592	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	0	NM_016320		11:3697456
FAM86EP	348926	broad.mit.edu	37	4	3944423	3944423	+	RNA	SNP	G	G	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:3944423G>T	ENST00000313946.8	-	0	1908									family with sequence similarity 86, member E, pseudogene																		GCTGTGGTTGGCTCTGATTTC	0.542																																						ENST00000313946.8		NA																	0					NA																																														0							g.chr4:3944423G>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3944423G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1908	-			NA						RNA	SNP	ENST00000313946.8	37																																																																																						0.542	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1	0			4:3944423
HTRA1	5654	broad.mit.edu	37	10	124273731	124273731	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:124273731C>A	ENST00000368984.3	+	9	1427	c.1299C>A	c.(1297-1299)gtC>gtA	p.V433V		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	433	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AAAACGACGTCATAATCAGCA	0.493																																						ENST00000368984.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17						c.(1297-1299)gtC>gtA		HtrA serine peptidase 1							336.0	302.0	314.0					10																	124273731		2203	4300	6503	SO:0001819	synonymous_variant	5654				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr10:124273731C>A	AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.1299C>A	10.37:g.124273731C>A		False	False		Somatic	0					p.V433V	NM_002775.4	NP_002766.1	WXS	Illumina HiSeq	Phase_I	Q92743	HTRA1_HUMAN			9	1427	+		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)	433			PDZ.		D3DRE4|Q9UNS5	Silent	SNP	ENST00000368984.3	37	c.1299C>A	CCDS7630.1																																																																																				0.493	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128327.1	0	NM_002775		10:124273731
CELSR1	9620	broad.mit.edu	37	22	46806347	46806347	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:46806347G>A	ENST00000262738.3	-	7	4880	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1627	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTTTTGCCGTCGACTGACA	0.632																																						ENST00000262738.3		NA																	0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(4879-4881)gaC>gaT		cadherin, EGF LAG seven-pass G-type receptor 1							127.0	110.0	116.0					22																	46806347		2203	4300	6503	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46806347G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4881C>T	22.37:g.46806347G>A		False	False		Somatic	0					p.D1627D	NM_014246.1	NP_055061.1	WXS	Illumina HiSeq	Phase_I	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	7	4880	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1627			Laminin G-like 1.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.4881C>T	CCDS14076.1																																																																																				0.632	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	0	NM_014246		22:46806347
NUP210L	91181	broad.mit.edu	37	1	154072575	154072575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:154072575C>T	ENST00000368559.3	-	14	1935	c.1864G>A	c.(1864-1866)Gca>Aca	p.A622T	NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	622					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GATTTAGCTGCGATATGTGTA	0.443																																						ENST00000368559.3		NA																	0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(1864-1866)Gca>Aca		nucleoporin 210kDa-like							187.0	175.0	178.0					1																	154072575		1937	4152	6089	SO:0001583	missense	91181					integral to membrane		g.chr1:154072575C>T	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.1864G>A	1.37:g.154072575C>T	ENSP00000357547:p.Ala622Thr	False	False		Somatic	0				NUP210L_ENST00000271854.3_Missense_Mutation_p.A622T	p.A622T	NM_207308.2	NP_997191.2	WXS	Illumina HiSeq	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		14	1935	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		622					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.1864G>A	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	4.853	0.158628	0.09236	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.06218	3.6;3.33	5.15	2.21	0.28008	.	0.453697	0.20603	N	0.089102	T	0.01156	0.0038	L	0.28274	0.84	0.09310	N	1	B;B	0.14438	0.01;0.004	B;B	0.08055	0.003;0.002	T	0.47873	-0.9083	10	0.10902	T	0.67	-12.1311	8.7224	0.34449	0.0:0.7554:0.0:0.2446	.	622;622	E7EP56;Q5VU65	.;P210L_HUMAN	T	622	ENSP00000357547:A622T;ENSP00000271854:A622T	ENSP00000271854:A622T	A	-	1	0	NUP210L	152339199	0.001000	0.12720	0.255000	0.24374	0.110000	0.19582	0.689000	0.25437	0.547000	0.28938	0.462000	0.41574	GCA		0.443	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	0	NM_207308		1:154072575
ITIH5	80760	broad.mit.edu	37	10	7679231	7679231	+	Silent	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:7679231C>T	ENST00000256861.6	-	5	690	c.612G>A	c.(610-612)ccG>ccA	p.P204P	ITIH5_ENST00000397145.2_Silent_p.P204P|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397146.2_Silent_p.P204P	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	204					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGTTGTGAAGCGGCAGCACCT	0.647																																						ENST00000256861.6		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(610-612)ccG>ccA		inter-alpha-trypsin inhibitor heavy chain family, member 5							83.0	87.0	86.0					10																	7679231		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7679231C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.612G>A	10.37:g.7679231C>T		False	False		Somatic	0				ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.P204P|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Silent_p.P204P	p.P204P	NM_030569.6	NP_085046.5	WXS	Illumina HiSeq	Phase_I	Q86UX2	ITIH5_HUMAN			5	690	-			204					Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.612G>A																																																																																					0.647	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	0	NM_030569		10:7679231
DIAPH1	1729	broad.mit.edu	37	5	140908384	140908384	+	Missense_Mutation	SNP	C	C	T	rs373654027		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:140908384C>T	ENST00000398557.4	-	22	3043	c.2903G>A	c.(2902-2904)cGt>cAt	p.R968H	DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H|DIAPH1_ENST00000253811.6_Missense_Mutation_p.R969H|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R965H	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	968	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCTTACGTAACTCCTC	0.448																																						ENST00000253811.6		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.(2905-2907)cGt>cAt		diaphanous-related formin 1							90.0	85.0	87.0					5																	140908384		2040	4206	6246	SO:0001583	missense	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140908384C>T	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.2903G>A	5.37:g.140908384C>T	ENSP00000381565:p.Arg968His	False	False		Somatic	0				DIAPH1_ENST00000389057.5_Missense_Mutation_p.R959H|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R944H|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R956H|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R968H|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R911H|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R960H|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R965H|DIAPH1_ENST00000494967.1_5'UTR	p.R969H			WXS	Illumina HiSeq	Phase_I	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		22	3046	-			968			FH2.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	ENST00000398557.4	37	c.2906G>A	CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859456	0.32884	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	T;T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.27	4.4	0.53042	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.224000	0.36815	N	0.002392	T	0.21550	0.0519	M	0.66439	2.03	0.53688	D	0.999978	B;B;B	0.28971	0.229;0.145;0.145	B;B;B	0.18561	0.022;0.022;0.022	T	0.04440	-1.0951	10	0.87932	D	0	.	9.2173	0.37355	0.0:0.8317:0.0:0.1683	.	911;959;968	E7ERW8;E9PEZ2;O60610	.;.;DIAP1_HUMAN	H	965;911;944;959;960;968;969;956	ENSP00000373706:R965H;ENSP00000429282:R911H;ENSP00000381570:R944H;ENSP00000373709:R959H;ENSP00000381572:R960H;ENSP00000381565:R968H;ENSP00000253811:R969H;ENSP00000428268:R956H	ENSP00000253811:R969H	R	-	2	0	DIAPH1	140888568	0.432000	0.25554	0.794000	0.32065	0.295000	0.27426	1.344000	0.33941	1.209000	0.43321	-0.259000	0.10710	CGT		0.448	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_005219		5:140908384
ZNF645	158506	broad.mit.edu	37	X	22292036	22292036	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:22292036C>T	ENST00000323684.1	+	1	972	c.928C>T	c.(928-930)Cgt>Tgt	p.R310C		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	310	Pro-rich.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TAACTCGGTTCGTAGCCAAGT	0.468																																						ENST00000323684.1		NA																	0				cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						c.(928-930)Cgt>Tgt		zinc finger protein 645							136.0	104.0	115.0					X																	22292036		2203	4300	6503	SO:0001583	missense	158506					intracellular	zinc ion binding	g.chrX:22292036C>T	AK098601	CCDS14205.1	Xp22.11	2014-01-21			ENSG00000175809	ENSG00000175809			26371	protein-coding gene	gene with protein product							Standard	NM_152577		Approved	FLJ25735, HAKAIL, CT138	uc004dai.2	Q8N7E2	OTTHUMG00000021242	ENST00000323684.1:c.928C>T	X.37:g.22292036C>T	ENSP00000323348:p.Arg310Cys	False	False		Somatic	0					p.R310C	NM_152577.3	NP_689790.1	WXS	Illumina HiSeq	Phase_I	Q8N7E2	ZN645_HUMAN			1	972	+			310			Pro-rich.		A0AV29|A0AV31|E3SBK4|Q6DJY9	Missense_Mutation	SNP	ENST00000323684.1	37	c.928C>T	CCDS14205.1	.	.	.	.	.	.	.	.	.	.	C	7.658	0.684388	0.14907	.	.	ENSG00000175809	ENST00000323684	T	0.30448	1.53	2.42	-0.0632	0.13778	.	3.358530	0.02026	N	0.048193	T	0.17577	0.0422	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24799	-1.0150	10	0.56958	D	0.05	.	5.4112	0.16349	0.0:0.3033:0.0:0.6967	.	310	Q8N7E2	ZN645_HUMAN	C	310	ENSP00000323348:R310C	ENSP00000323348:R310C	R	+	1	0	ZNF645	22201957	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.443000	0.52907	-0.088000	0.12506	-0.296000	0.09543	CGT		0.468	ZNF645-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056037.1	0	NM_152577		X:22292036
C2orf16	84226	broad.mit.edu	37	2	27804824	27804824	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:27804824G>C	ENST00000408964.2	+	1	5436	c.5385G>C	c.(5383-5385)gaG>gaC	p.E1795D	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1795	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTCCCTCTGAGAGAAGCCATC	0.547																																						ENST00000408964.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47						c.(5383-5385)gaG>gaC		chromosome 2 open reading frame 16							154.0	157.0	156.0					2																	27804824		1922	4129	6051	SO:0001583	missense	84226							g.chr2:27804824G>C	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.5385G>C	2.37:g.27804824G>C	ENSP00000386190:p.Glu1795Asp	True	False		Somatic	0					p.E1795D	NM_032266.3	NP_115642.3	WXS	Illumina HiSeq	Phase_I	Q68DN1	CB016_HUMAN			1	5436	+	Acute lymphoblastic leukemia(172;0.155)		1795			27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.		B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.5385G>C	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	g	10.19	1.281825	0.23392	.	.	ENSG00000221843	ENST00000408964	T	0.05786	3.39	3.95	1.17	0.20885	.	.	.	.	.	T	0.07369	0.0186	L	0.53249	1.67	0.09310	N	1	P	0.38300	0.626	B	0.36504	0.226	T	0.24297	-1.0164	9	0.52906	T	0.07	.	7.9068	0.29767	0.2806:0.0:0.7194:0.0	.	1795	Q68DN1	CB016_HUMAN	D	1795	ENSP00000386190:E1795D	ENSP00000386190:E1795D	E	+	3	2	C2orf16	27658328	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.437000	0.21543	0.251000	0.21505	0.407000	0.27541	GAG		0.547	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	0	NM_032266		2:27804824
TTN	7273	broad.mit.edu	37	2	179582534	179582534	+	Missense_Mutation	SNP	C	C	T	rs376290076		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:179582534C>T	ENST00000591111.1	-	85	24340	c.24116G>A	c.(24115-24117)cGc>cAc	p.R8039H	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7112H|TTN_ENST00000589042.1_Missense_Mutation_p.R8356H			Q8WZ42	TITIN_HUMAN	titin	12230					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAAGTTTGCGCGCTGTAAA	0.373																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25066-25068)cGc>cAc		titin		C	HIS/ARG,,,	0,3702		0,0,1851	34.0	33.0	33.0		21335,,,	5.9	1.0	2		33	2,8184		0,2,4091	no	missense,intron,intron,intron	TTN	NM_133378.4,NM_003319.4,NM_133432.3,NM_133437.3	29,,,	0,2,5942	TT,TC,CC		0.0244,0.0,0.0168	probably-damaging,,,	7112/33424,,,	179582534	2,11886	1851	4093	5944	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582534C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24116G>A	2.37:g.179582534C>T	ENSP00000465570:p.Arg8039His	True	False		Somatic	0				TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R8039H|TTN_ENST00000342992.6_Missense_Mutation_p.R7112H	p.R8356H	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	25291	-			8039			Ig-like 66.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25067G>A		.	.	.	.	.	.	.	.	.	.	C	14.29	2.490214	0.44249	0.0	2.44E-4	ENSG00000155657	ENST00000342992	T	0.63744	-0.06	5.87	5.87	0.94306	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80529	0.4640	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	T	0.80745	-0.1245	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	8039	Q8WZ42	TITIN_HUMAN	H	7112	ENSP00000343764:R7112H	ENSP00000343764:R7112H	R	-	2	0	TTN	179290779	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.777000	0.47717	2.941000	0.99782	0.655000	0.94253	CGC		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179582534
CEACAM7	1087	broad.mit.edu	37	19	42190935	42190935	+	Silent	SNP	G	G	A	rs145571605	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:42190935G>A	ENST00000006724.3	-	2	483	c.282C>T	c.(280-282)ccC>ccT	p.P94P	CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Silent_p.P94P|CEACAM7_ENST00000602225.1_Silent_p.P94P|CEACAM7_ENST00000338196.4_Silent_p.P94P	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	94	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CGTTGTGTGCGGGCCCTGGGG	0.443																																						ENST00000006724.3		NA																	0				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(280-282)ccC>ccT		carcinoembryonic antigen-related cell adhesion molecule 7		G		8,4398	12.9+/-30.5	0,8,2195	175.0	185.0	182.0		282	-3.4	0.0	19	dbSNP_134	182	0,8600		0,0,4300	no	coding-synonymous	CEACAM7	NM_006890.3		0,8,6495	AA,AG,GG		0.0,0.1816,0.0615		94/266	42190935	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	1087					anchored to membrane|integral to membrane|plasma membrane		g.chr19:42190935G>A	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.282C>T	19.37:g.42190935G>A		True	False		Somatic	0				CEACAM7_ENST00000401731.1_Silent_p.P94P|CEACAM7_ENST00000602225.1_Silent_p.P94P|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Silent_p.P94P	p.P94P	NM_006890.3	NP_008821.1	WXS	Illumina HiSeq	Phase_I	Q14002	CEAM7_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)	2	483	-			94			Ig-like V-type.		A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Silent	SNP	ENST00000006724.3	37	c.282C>T	CCDS12583.1																																																																																				0.443	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321145.1	0	NM_006890		19:42190935
SLCO4C1	353189	broad.mit.edu	37	5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A	rs374536178		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338																																						ENST00000310954.6		NA																	0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1831-1833)Cgg>Tgg		solute carrier organic anion transporter family, member 4C1		G	TRP/ARG	0,4406		0,0,2203	131.0	140.0	137.0		1831	6.0	0.3	5		137	1,8595	1.2+/-3.3	0,1,4297	no	missense	SLCO4C1	NM_180991.4	101	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	611/725	101576467	1,13001	2203	4298	6501	SO:0001583	missense	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101576467G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1831C>T	5.37:g.101576467G>A	ENSP00000309741:p.Arg611Trp	False	False		Somatic	0					p.R611W	NM_180991.4	NP_851322.3	WXS	Illumina HiSeq	Phase_I	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	11	2117	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	611						Missense_Mutation	SNP	ENST00000310954.6	37	c.1831C>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.261188	0.59431	0.0	1.16E-4	ENSG00000173930	ENST00000310954	T	0.50548	0.74	5.96	5.96	0.96718	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000013	T	0.76026	0.3930	M	0.93898	3.47	0.32241	N	0.57269	D	0.89917	1.0	D	0.91635	0.999	D	0.84319	0.0515	10	0.87932	D	0	.	13.8945	0.63764	0.0:0.0:0.8477:0.1523	.	611	Q6ZQN7	SO4C1_HUMAN	W	611	ENSP00000309741:R611W	ENSP00000309741:R611W	R	-	1	2	SLCO4C1	101604366	0.980000	0.34600	0.263000	0.24496	0.635000	0.38103	3.947000	0.56652	2.832000	0.97577	0.655000	0.94253	CGG		0.338	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	0	NM_180991		5:101576467
ABCA4	24	broad.mit.edu	37	1	94543309	94543309	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:94543309G>A	ENST00000370225.3	-	11	1577	c.1491C>T	c.(1489-1491)ttC>ttT	p.F497F	ABCA4_ENST00000535735.1_Silent_p.F497F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	497					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCCTCCAGTCGAAGTTGGCCA	0.537																																						ENST00000370225.3		NA																	0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(1489-1491)ttC>ttT		ATP-binding cassette, sub-family A (ABC1), member 4							164.0	156.0	159.0					1																	94543309		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94543309G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1491C>T	1.37:g.94543309G>A		False	False		Somatic	0				ABCA4_ENST00000535735.1_Silent_p.F497F	p.F497F	NM_000350.2	NP_000341.2	WXS	Illumina HiSeq	Phase_I	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	11	1577	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	497					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.1491C>T	CCDS747.1																																																																																				0.537	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	0	NM_000350		1:94543309
PTPRU	10076	broad.mit.edu	37	1	29630479	29630479	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:29630479G>A	ENST00000345512.3	+	17	2748	c.2619G>A	c.(2617-2619)gcG>gcA	p.A873A	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Silent_p.A863A|PTPRU_ENST00000373779.3_Silent_p.A863A|PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000323874.8_Silent_p.A863A|PTPRU_ENST00000460170.2_Silent_p.A863A	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	873	Mediates interaction with CTNNB1. {ECO:0000250}.				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)		TGCACCCTGCGGTGCGTGTCG	0.687																																						ENST00000373779.3		NA																	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.(2587-2589)gcG>gcA		protein tyrosine phosphatase, receptor type, U							49.0	52.0	51.0					1																	29630479		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:29630479G>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.2619G>A	1.37:g.29630479G>A		False	False		Somatic	0				PTPRU_ENST00000345512.3_Silent_p.A873A|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Silent_p.A863A|PTPRU_ENST00000428026.2_Silent_p.A863A|PTPRU_ENST00000323874.8_Silent_p.A863A|PTPRU_ENST00000460170.2_Silent_p.A863A	p.A863A	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	WXS	Illumina HiSeq	Phase_I	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)	16	2718	+		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)	873			Mediates interaction with CTNNB1 (By similarity).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.2589G>A	CCDS334.1																																																																																				0.687	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1	0			1:29630479
CSF1	1435	broad.mit.edu	37	1	110458293	110458293	+	Missense_Mutation	SNP	T	T	C	rs375736026		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:110458293T>C	ENST00000329608.6	+	3	591	c.200T>C	c.(199-201)tTt>tCt	p.F67S	CSF1_ENST00000420111.2_Missense_Mutation_p.F67S|CSF1_ENST00000344188.5_Missense_Mutation_p.F67S|CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000369802.3_Missense_Mutation_p.F67S	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	P09603	CSF1_HUMAN	colony stimulating factor 1 (macrophage)	67					branching involved in mammary gland duct morphogenesis (GO:0060444)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|developmental process involved in reproduction (GO:0003006)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary duct terminal end bud growth (GO:0060763)|mammary gland fat development (GO:0060611)|monocyte activation (GO:0042117)|odontogenesis (GO:0042476)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|osteoclast proliferation (GO:0002158)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of macrophage derived foam cell differentiation (GO:0010743)|regulation of ossification (GO:0030278)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|macrophage colony-stimulating factor receptor binding (GO:0005157)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAATTACATTTGAGTTTGTA	0.502																																						ENST00000329608.6		NA																	0				breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						c.(199-201)tTt>tCt		colony stimulating factor 1 (macrophage)		T	SER/PHE,SER/PHE,SER/PHE,SER/PHE	1,4405	2.1+/-5.4	0,1,2202	180.0	157.0	164.0		200,200,200,200	3.0	0.1	1		164	0,8600		0,0,4300	no	missense,missense,missense,missense	CSF1	NM_000757.5,NM_172210.2,NM_172211.2,NM_172212.2	155,155,155,155	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	67/555,67/439,67/257,67/555	110458293	1,13005	2203	4300	6503	SO:0001583	missense	1435				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity	g.chr1:110458293T>C	BC021117	CCDS816.1, CCDS817.1, CCDS30797.1	1p13.3	2012-09-20			ENSG00000184371	ENSG00000184371			2432	protein-coding gene	gene with protein product		120420				1540160	Standard	NM_172210		Approved	M-CSF, MCSF, MGC31930	uc001dyw.4	P09603	OTTHUMG00000011646	ENST00000329608.6:c.200T>C	1.37:g.110458293T>C	ENSP00000327513:p.Phe67Ser	True	False		Somatic	0				CSF1_ENST00000526001.1_3'UTR|CSF1_ENST00000369802.3_Missense_Mutation_p.F67S|CSF1_ENST00000420111.2_Missense_Mutation_p.F67S|CSF1_ENST00000369801.1_Missense_Mutation_p.F67S|CSF1_ENST00000344188.5_Missense_Mutation_p.F67S	p.F67S	NM_000757.5|NM_172211.3	NP_000748|NP_757350.1	WXS	Illumina HiSeq	Phase_I	P09603	CSF1_HUMAN		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)	3	591	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)	67					A8K6J5|Q13130|Q14086|Q14806|Q5VVF3|Q5VVF4|Q9UQR8	Missense_Mutation	SNP	ENST00000329608.6	37	c.200T>C	CCDS816.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.589665	0.28357	2.27E-4	0.0	ENSG00000184371	ENST00000527192;ENST00000525659;ENST00000357302;ENST00000344188;ENST00000329608;ENST00000488198;ENST00000369802;ENST00000420111;ENST00000369801	T;T;T;T;T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73;2.73	5.46	3.04	0.35103	Four-helical cytokine-like, core (1);	0.227455	0.37304	N	0.002156	T	0.15955	0.0384	M	0.66939	2.045	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.992	D;P;P	0.64042	0.921;0.886;0.634	T	0.05321	-1.0892	10	0.87932	D	0	.	8.5803	0.33623	0.2814:0.0:0.0:0.7186	.	67;67;67	P09603-3;P09603;P09603-2	.;CSF1_HUMAN;.	S	74;26;67;67;67;26;67;67;67	ENSP00000434527:F74S;ENSP00000431547:F26S;ENSP00000349854:F67S;ENSP00000342718:F67S;ENSP00000327513:F67S;ENSP00000433837:F26S;ENSP00000358817:F67S;ENSP00000407317:F67S;ENSP00000358816:F67S	ENSP00000327513:F67S	F	+	2	0	CSF1	110259816	1.000000	0.71417	0.068000	0.19968	0.003000	0.03518	1.209000	0.32357	0.400000	0.25396	0.459000	0.35465	TTT		0.502	CSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032208.1	0	NM_000757		1:110458293
CKAP5	9793	broad.mit.edu	37	11	46782199	46782199	+	Missense_Mutation	SNP	G	G	A	rs540835227		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:46782199G>A	ENST00000529230.1	-	33	4403	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|SNORD67_ENST00000516618.1_RNA|SNORD67_ENST00000390833.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1453					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.R1453C(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGTCCCTTGCGTAACATGTTG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		20329	0.001		0.0	False		,,,				2504	0.0				Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1		NA																	1	Substitution - Missense(1)	p.R1453C(1)	kidney(1)	breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(4357-4359)Cgc>Tgc		cytoskeleton associated protein 5							239.0	197.0	211.0					11																	46782199		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46782199G>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4357C>T	11.37:g.46782199G>A	ENSP00000432768:p.Arg1453Cys	False	False		Somatic	0				CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C	p.R1453C			WXS	Illumina HiSeq	Phase_I	Q14008	CKAP5_HUMAN			33	4403	-			1453					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.4357C>T	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.036557|4.036557	0.75617|0.75617	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.51071|.	0.72;0.74;0.74;0.74|.	6.03|6.03	5.12|5.12	0.69794|0.69794	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;B;B|.	0.89917|.	1.0;0.004;0.002|.	D;B;B|.	0.72625|.	0.978;0.001;0.0|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.59425|.	D|.	0.04|.	-10.0088|-10.0088	15.5956|15.5956	0.76578|0.76578	0.0658:0.0:0.9342:0.0|0.0658:0.0:0.9342:0.0	.|.	1453;1453;1453|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	C|M	1453;1453;1453;1453;176|1	ENSP00000432768:R1453C;ENSP00000395302:R1453C;ENSP00000310227:R1453C;ENSP00000346566:R1453C|.	ENSP00000310227:R1453C|.	R|T	-|-	1|2	0|0	CKAP5|CKAP5	46738775|46738775	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.997000|0.997000	0.91878|0.91878	5.506000|5.506000	0.66993|0.66993	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.483	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	0	NM_014756		11:46782199
C12orf74	338809	broad.mit.edu	37	12	93100538	93100538	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:93100538G>A	ENST00000397833.3	+	2	582	c.131G>A	c.(130-132)cGc>cAc	p.R44H	C12orf74_ENST00000544406.2_Missense_Mutation_p.R44H	NM_001037671.3|NM_001178097.2	NP_001032760.1|NP_001171568.1	Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	44										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						GCCCCAGGCCGCATCTCCACC	0.642																																						ENST00000544406.2		NA																	0				kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						c.(130-132)cGc>cAc		chromosome 12 open reading frame 74							41.0	43.0	43.0					12																	93100538		1915	4120	6035	SO:0001583	missense	338809							g.chr12:93100538G>A	BC043363	CCDS41819.1, CCDS53818.1	12q22	2012-08-16			ENSG00000214215	ENSG00000214215			27887	protein-coding gene	gene with protein product						12477932	Standard	NM_001037671		Approved		uc001tch.2	Q32Q52	OTTHUMG00000170105	ENST00000397833.3:c.131G>A	12.37:g.93100538G>A	ENSP00000380933:p.Arg44His	False	False		Somatic	0				C12orf74_ENST00000397833.3_Missense_Mutation_p.R44H	p.R44H			WXS	Illumina HiSeq	Phase_I	Q32Q52	CL074_HUMAN			2	397	+			44					F5H4P0	Missense_Mutation	SNP	ENST00000397833.3	37	c.131G>A	CCDS41819.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.903105	0.33628	.	.	ENSG00000214215	ENST00000397833;ENST00000544406	.	.	.	4.98	4.08	0.47627	.	.	.	.	.	T	0.24084	0.0583	N	0.24115	0.695	0.18873	N	0.999983	P;P	0.43938	0.822;0.822	B;B	0.37943	0.261;0.261	T	0.06991	-1.0796	8	0.59425	D	0.04	-16.0586	9.522	0.39140	0.0971:0.0:0.9029:0.0	.	44;44	F5H4P0;Q32Q52	.;CL074_HUMAN	H	44	.	ENSP00000380933:R44H	R	+	2	0	C12orf74	91624669	0.014000	0.17966	0.083000	0.20561	0.338000	0.28826	1.061000	0.30542	1.295000	0.44724	0.462000	0.41574	CGC		0.642	C12orf74-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407285.1	0	NM_001037671		12:93100538
SLC25A22	79751	broad.mit.edu	37	11	792328	792328	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:792328C>T	ENST00000320230.5	-	8	1199	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A240T|CEND1_ENST00000330106.4_5'Flank|CEND1_ENST00000524587.1_5'Flank	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	240					L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGGCCACAGCGGCGGCACTC	0.682																																					Colon(93;848 1468 3270 23355 49636)	ENST00000320230.5		NA																	0				endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5						c.(718-720)Gct>Act		solute carrier family 25 (mitochondrial carrier: glutamate), member 22	L-Glutamic Acid(DB00142)						50.0	60.0	57.0					11																	792328		2203	4297	6500	SO:0001583	missense	79751					integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	g.chr11:792328C>T	AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310	ENST00000320230.5:c.718G>A	11.37:g.792328C>T	ENSP00000322020:p.Ala240Thr	False	False		Somatic	0				SLC25A22_ENST00000531214.1_Missense_Mutation_p.A240T	p.A240T	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	WXS	Illumina HiSeq	Phase_I	Q9H936	GHC1_HUMAN		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1199	-		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	240					A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Missense_Mutation	SNP	ENST00000320230.5	37	c.718G>A	CCDS7715.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962796	0.53507	.	.	ENSG00000177542	ENST00000320230;ENST00000531214	T;T	0.78595	-1.19;-1.19	3.8	2.88	0.33553	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.79845	0.4516	L	0.38953	1.18	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.76345	-0.2993	10	0.31617	T	0.26	-17.7338	11.5497	0.50713	0.0:0.9115:0.0:0.0885	.	240	Q9H936	GHC1_HUMAN	T	240	ENSP00000322020:A240T;ENSP00000437236:A240T	ENSP00000322020:A240T	A	-	1	0	SLC25A22	782328	1.000000	0.71417	0.020000	0.16555	0.002000	0.02628	5.614000	0.67695	0.959000	0.37980	-0.199000	0.12753	GCT		0.682	SLC25A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257107.2	0			11:792328
CXorf56	63932	broad.mit.edu	37	X	118699217	118699217	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:118699217G>A	ENST00000371594.4	-	1	180	c.102C>T	c.(100-102)tgC>tgT	p.C34C	CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Silent_p.C34C	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	34										cervix(1)|endometrium(2)|lung(7)	10						CCATCTGGCCGCACAAACAGT	0.577																																						ENST00000371594.4		NA																	0				cervix(1)|endometrium(2)|lung(7)	10						c.(100-102)tgC>tgT		chromosome X open reading frame 56							78.0	75.0	76.0					X																	118699217		2203	4300	6503	SO:0001819	synonymous_variant	63932						protein binding	g.chrX:118699217G>A	AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.102C>T	X.37:g.118699217G>A		False	False		Somatic	0				CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Silent_p.C34C	p.C34C	NM_022101.3	NP_071384.1	WXS	Illumina HiSeq	Phase_I	Q9H5V9	CX056_HUMAN			1	180	-			34					A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Silent	SNP	ENST00000371594.4	37	c.102C>T	CCDS14579.1																																																																																				0.577	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_022101		X:118699217
OR5D13	390142	broad.mit.edu	37	11	55541693	55541693	+	Silent	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:55541693T>C	ENST00000361760.1	+	1	780	c.780T>C	c.(778-780)ctT>ctC	p.L260L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TCCTTTTCCTTTACTGTGTTC	0.458																																						ENST00000361760.1		NA																	0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40						c.(778-780)ctT>ctC		olfactory receptor, family 5, subfamily D, member 13							122.0	99.0	107.0					11																	55541693		2200	4296	6496	SO:0001819	synonymous_variant	390142				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55541693T>C	BK004394	CCDS31507.1	11q11	2012-08-09			ENSG00000198877	ENSG00000198877		"""GPCR / Class A : Olfactory receptors"""	15280	protein-coding gene	gene with protein product							Standard	NM_001001967		Approved		uc010ril.2	Q8NGL4	OTTHUMG00000166807	ENST00000361760.1:c.780T>C	11.37:g.55541693T>C		True	False		Somatic	0					p.L260L	NM_001001967.1	NP_001001967.1	WXS	Illumina HiSeq	Phase_I	Q8NGL4	OR5DD_HUMAN			1	780	+		all_epithelial(135;0.196)	260					Q6IF68|Q6IFC9	Silent	SNP	ENST00000361760.1	37	c.780T>C	CCDS31507.1																																																																																				0.458	OR5D13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391511.1	0	NM_001001967		11:55541693
MAP2K3	5606	broad.mit.edu	37	17	21204218	21204218	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:21204218G>A	ENST00000342679.4	+	5	561	c.312G>A	c.(310-312)caG>caA	p.Q104Q	MAP2K3_ENST00000316920.6_Silent_p.Q75Q|MAP2K3_ENST00000361818.5_Silent_p.Q75Q	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	104	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CACAGGAGCAGAAGCGGCTGC	0.587																																						ENST00000342679.4		NA																	0					NA						c.(310-312)caG>caA		mitogen-activated protein kinase kinase 3							125.0	102.0	110.0					17																	21204218		2203	4300	6503	SO:0001819	synonymous_variant	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21204218G>A	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.312G>A	17.37:g.21204218G>A		False	False		Somatic	0				MAP2K3_ENST00000361818.5_Silent_p.Q75Q|MAP2K3_ENST00000316920.6_Silent_p.Q75Q	p.Q104Q	NM_145109.2	NP_659731.1	WXS	Illumina HiSeq	Phase_I	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	5	561	+			104			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	ENST00000342679.4	37	c.312G>A	CCDS11217.1																																																																																				0.587	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	0	NM_145109		17:21204218
RBM15B	29890	broad.mit.edu	37	3	51430415	51430415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr3:51430415C>T	ENST00000323686.4	+	1	1685	c.1585C>T	c.(1585-1587)Cgg>Tgg	p.R529W		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	529					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGACCTGGTGCGGGACAGGAC	0.612																																						ENST00000323686.4		NA																	0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1585-1587)Cgg>Tgg		RNA binding motif protein 15B							44.0	49.0	48.0					3																	51430415		2203	4300	6503	SO:0001583	missense	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430415C>T	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	ENST00000323686.4:c.1585C>T	3.37:g.51430415C>T	ENSP00000313890:p.Arg529Trp	True	False		Somatic	0					p.R529W	NM_013286.4	NP_037418.3	WXS	Illumina HiSeq	Phase_I	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1685	+			529					A4QPG7|Q6QE19|Q9BV96	Missense_Mutation	SNP	ENST00000323686.4	37	c.1585C>T	CCDS33764.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846050	0.51164	.	.	ENSG00000179837	ENST00000323686;ENST00000541145	T	0.18174	2.23	5.55	4.67	0.58626	.	.	.	.	.	T	0.37348	0.1000	L	0.57536	1.79	0.50313	D	0.999868	D	0.89917	1.0	D	0.77004	0.989	T	0.14924	-1.0455	9	0.87932	D	0	-16.0835	13.3329	0.60500	0.4055:0.5945:0.0:0.0	.	529	Q8NDT2	RB15B_HUMAN	W	529;202	ENSP00000313890:R529W	ENSP00000313890:R529W	R	+	1	2	RBM15B	51405455	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.873000	0.28052	1.329000	0.45376	0.655000	0.94253	CGG		0.612	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	0	NM_013286		3:51430415
ANKRD55	79722	broad.mit.edu	37	5	55472007	55472007	+	Missense_Mutation	SNP	C	C	T	rs201977310		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:55472007C>T	ENST00000341048.4	-	4	435	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H|ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	95										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TAAACTTGTGCGGCCATAAGC	0.542																																						ENST00000341048.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(283-285)cGc>cAc		ankyrin repeat domain 55							161.0	136.0	144.0					5																	55472007		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55472007C>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.284G>A	5.37:g.55472007C>T	ENSP00000342295:p.Arg95His	False	False		Somatic	0				ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H	p.R95H	NM_024669.2	NP_078945.2	WXS	Illumina HiSeq	Phase_I	Q3KP44	ANR55_HUMAN			4	435	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	94					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.284G>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	C	35	5.426908	0.96131	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000513241;ENST00000519586	T;T;T	0.66460	-0.21;-0.21;-0.21	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.77837	0.4190	L	0.47190	1.495	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.76607	-0.2897	10	0.41790	T	0.15	.	18.5715	0.91137	0.0:1.0:0.0:0.0	.	95	B3KVT8	.	H	95;95;95;66;95	ENSP00000342295:R95H;ENSP00000424230:R95H;ENSP00000423507:R66H	ENSP00000342295:R95H	R	-	2	0	ANKRD55	55507764	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	6.485000	0.73625	2.462000	0.83206	0.563000	0.77884	CGC		0.542	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	0	NM_024669		5:55472007
ANKRD20A8P	729171	broad.mit.edu	37	2	95484551	95484551	+	RNA	SNP	G	G	A	rs553123385	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr2:95484551G>A	ENST00000432432.2	-	0	1383					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		CTGAGGATACGTTTTCCCAAT	0.358													g|||	2	0.000399361	0.0	0.0014	5008	,	,		15137	0.0		0.0	False		,,,				2504	0.001					ENST00000432432.2		NA																	0					NA																																														0							g.chr2:95484551G>A			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95484551G>A		True	False		Somatic	0						NR_040113.1		WXS	Illumina HiSeq	Phase_I					0	1383	-			NA					A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.358	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1	0			2:95484551
CSPG4	1464	broad.mit.edu	37	15	75968972	75968972	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr15:75968972T>A	ENST00000308508.5	-	10	5980	c.5888A>T	c.(5887-5889)cAg>cTg	p.Q1963L	AC105020.1_ENST00000435356.1_5'Flank|CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1963	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGCTGCTGCTGGCTCAGTGA	0.672																																						ENST00000308508.5		NA																	0				breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						c.(5887-5889)cAg>cTg		chondroitin sulfate proteoglycan 4							38.0	48.0	45.0					15																	75968972		2196	4294	6490	SO:0001583	missense	1464				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	g.chr15:75968972T>A	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.5888A>T	15.37:g.75968972T>A	ENSP00000312506:p.Gln1963Leu	True	False		Somatic	0				CTD-2026K11.1_ENST00000569467.1_RNA	p.Q1963L	NM_001897.4	NP_001888.2	WXS	Illumina HiSeq	Phase_I	Q6UVK1	CSPG4_HUMAN			10	5980	-			1963			Cysteine-containing.|Neurite growth inhibition (By similarity).		D3DW77|Q92675	Missense_Mutation	SNP	ENST00000308508.5	37	c.5888A>T	CCDS10284.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.399616	0.25291	.	.	ENSG00000173546	ENST00000308508	T	0.18016	2.24	5.15	-6.2	0.02072	.	0.815436	0.10720	N	0.641890	T	0.09949	0.0244	L	0.34521	1.04	0.09310	N	0.999999	B	0.14438	0.01	B	0.11329	0.006	T	0.33214	-0.9877	10	0.25751	T	0.34	.	8.6049	0.33767	0.0:0.2126:0.3399:0.4475	.	1963	Q6UVK1	CSPG4_HUMAN	L	1963	ENSP00000312506:Q1963L	ENSP00000312506:Q1963L	Q	-	2	0	CSPG4	73756027	0.037000	0.19845	0.433000	0.26760	0.950000	0.60333	0.260000	0.18424	-1.050000	0.03230	-0.337000	0.08149	CAG		0.672	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286472.1	0	NM_001897		15:75968972
TAS2R1	50834	broad.mit.edu	37	5	9629467	9629467	+	Silent	SNP	C	C	T	rs140696180	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:9629467C>T	ENST00000382492.2	-	1	996	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TAGACAGCAACGCGCTGATGG	0.498																																						ENST00000382492.2		NA																	0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(676-678)gcG>gcA		taste receptor, type 2, member 1		C		0,4406		0,0,2203	67.0	75.0	72.0		678	-11.1	0.0	5	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS2R1	NM_019599.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		226/300	9629467	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629467C>T	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.678G>A	5.37:g.9629467C>T		False	False		Somatic	0				CTD-2001E22.1_ENST00000504182.2_RNA	p.A226A	NM_019599.2	NP_062545.1	WXS	Illumina HiSeq	Phase_I	Q9NYW7	TA2R1_HUMAN			1	996	-			226					Q646G8	Silent	SNP	ENST00000382492.2	37	c.678G>A	CCDS3876.1																																																																																				0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2	0			5:9629467
ARID1B	57492	broad.mit.edu	37	6	157528497	157528497	+	Silent	SNP	G	G	A	rs373301793		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr6:157528497G>A	ENST00000350026.5	+	19	6184	c.6183G>A	c.(6181-6183)tcG>tcA	p.S2061S	ARID1B_ENST00000367148.1_Silent_p.S2114S|ARID1B_ENST00000346085.5_Silent_p.S2074S|ARID1B_ENST00000275248.4_Silent_p.S2056S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2061					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACCCAACTCGGTCCTGTCGC	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		21077	0.0		0.0	False		,,,				2504	0.001					ENST00000346085.5		NA																	0				NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(6220-6222)tcG>tcA		AT rich interactive domain 1B (SWI1-like)							188.0	194.0	192.0					6																	157528497		2203	4296	6499	SO:0001819	synonymous_variant	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157528497G>A	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.6183G>A	6.37:g.157528497G>A		False	False		Somatic	0				ARID1B_ENST00000367148.1_Silent_p.S2114S|ARID1B_ENST00000350026.5_Silent_p.S2061S|ARID1B_ENST00000275248.4_Silent_p.S2056S	p.S2074S	NM_020732.3	NP_065783.3	WXS	Illumina HiSeq	Phase_I	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	20	6223	+		Breast(66;0.000162)|Ovarian(120;0.0265)	2061					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	c.6222G>A	CCDS5251.2																																																																																				0.532	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	0	NM_020732		6:157528497
KIR3DL1	3811	broad.mit.edu	37	19	55341591	55341591	+	Missense_Mutation	SNP	C	C	T	rs200600822	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:55341591C>T	ENST00000391728.4	+	9	1229	c.1196C>T	c.(1195-1197)gCa>gTa	p.A399V	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A382V|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A399V|KIR2DS4_ENST00000339924.8_RNA|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A304V|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A382V	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	399					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GTGACATACGCACAGTTGGAT	0.517																																						ENST00000391728.4		NA																	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(1195-1197)gCa>gTa		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1							264.0	240.0	248.0					19																	55341591		2172	4170	6342	SO:0001583	missense	3811							g.chr19:55341591C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.1196C>T	19.37:g.55341591C>T	ENSP00000375608:p.Ala399Val	False	False		Somatic	0				KIR3DL1_ENST00000541392.1_Missense_Mutation_p.A382V|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.A399V|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.A304V|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.A382V	p.A399V	NM_013289.2	NP_037421.2	WXS	Illumina HiSeq	Phase_I				GBM - Glioblastoma multiforme(193;0.0192)	9	1229	+			NA					O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	c.1196C>T	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	7.992	0.753548	0.15778	.	.	ENSG00000167633	ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T	0.00518	7.09;6.86;7.09;6.86;7.04	0.719	0.719	0.18208	.	.	.	.	.	T	0.00784	0.0026	M	0.88640	2.97	0.09310	N	1	B;B;B	0.28470	0.213;0.001;0.019	B;B;B	0.27170	0.077;0.008;0.022	T	0.28902	-1.0029	8	0.87932	D	0	.	.	.	.	.	382;304;399	Q15702;Q14946;P43629	.;.;KI3L1_HUMAN	V	399;382;377;399;382;304	ENSP00000443350:A399V;ENSP00000442355:A382V;ENSP00000375608:A399V;ENSP00000326868:A382V;ENSP00000350901:A304V	ENSP00000326868:A382V	A	+	2	0	KIR3DL1	60033403	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.227000	0.17795	0.680000	0.31366	0.184000	0.17185	GCA		0.517	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	0	NM_013289		19:55341591
F5	2153	broad.mit.edu	37	1	169510281	169510281	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:169510281G>A	ENST00000367797.3	-	13	4248	c.4047C>T	c.(4045-4047)tcC>tcT	p.S1349S	F5_ENST00000367796.3_Silent_p.S1354S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1349	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.S1349S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CGAGGGCTGGGGAAAGGTTTG	0.517																																						ENST00000367796.3		NA																	1	Substitution - coding silent(1)	p.S1349S(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(4060-4062)tcC>tcT		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						196.0	218.0	211.0					1																	169510281		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510281G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4047C>T	1.37:g.169510281G>A		True	False		Somatic	0				F5_ENST00000367797.3_Silent_p.S1349S	p.S1354S			WXS	Illumina HiSeq	Phase_I	P12259	FA5_HUMAN			13	4263	-	all_hematologic(923;0.208)		1349			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.4062C>T	CCDS1281.1																																																																																				0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	NM_000130		1:169510281
ANKRD34B	340120	broad.mit.edu	37	5	79855633	79855633	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:79855633T>C	ENST00000338682.3	-	5	878	c.206A>G	c.(205-207)tAc>tGc	p.Y69C		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	69						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CTCTAACAGGTATTTCACCAT	0.448																																						ENST00000338682.3		NA																	0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28						c.(205-207)tAc>tGc		ankyrin repeat domain 34B							160.0	161.0	160.0					5																	79855633		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855633T>C		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.206A>G	5.37:g.79855633T>C	ENSP00000339802:p.Tyr69Cys	False	False		Somatic	0					p.Y69C	NM_001004441.2	NP_001004441.2	WXS	Illumina HiSeq	Phase_I	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	5	878	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	69					B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.206A>G	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063229	0.76187	.	.	ENSG00000189127	ENST00000338682	T	0.65916	-0.18	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.081459	0.50627	U	0.000101	T	0.72382	0.3453	L	0.41027	1.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74948	-0.3490	10	0.72032	D	0.01	-14.1729	14.9417	0.70997	0.0:0.0:0.0:1.0	.	69	A5PLL1	AN34B_HUMAN	C	69	ENSP00000339802:Y69C	ENSP00000339802:Y69C	Y	-	2	0	ANKRD34B	79891389	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	7.900000	0.87376	2.201000	0.70794	0.459000	0.35465	TAC		0.448	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	0	NM_001004441		5:79855633
POU2F3	25833	broad.mit.edu	37	11	120175780	120175780	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:120175780C>A	ENST00000543440.2	+	7	636	c.486C>A	c.(484-486)ccC>ccA	p.P162P	POU2F3_ENST00000260264.4_Silent_p.P164P	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	162					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CTTTAGAACCCCACCTGGAAG	0.542																																						ENST00000260264.4		NA																	0				large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17						c.(490-492)ccC>ccA		POU class 2 homeobox 3							66.0	70.0	69.0					11																	120175780		2203	4299	6502	SO:0001819	synonymous_variant	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120175780C>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.486C>A	11.37:g.120175780C>A		True	False		Somatic	0				POU2F3_ENST00000543440.2_Silent_p.P162P	p.P164P	NM_001244682.1	NP_001231611.1	WXS	Illumina HiSeq	Phase_I	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	7	526	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	162					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Silent	SNP	ENST00000543440.2	37	c.492C>A	CCDS8431.1																																																																																				0.542	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2	0			11:120175780
PTPRU	10076	broad.mit.edu	37	1	29630460	29630460	+	Missense_Mutation	SNP	C	C	T	rs146215972		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:29630460C>T	ENST00000345512.3	+	17	2729	c.2600C>T	c.(2599-2601)aCg>aTg	p.T867M	PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Missense_Mutation_p.T857M|PTPRU_ENST00000373779.3_Missense_Mutation_p.T857M|PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	867	Mediates interaction with CTNNB1. {ECO:0000250}.				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)		CCATACCACACGGGGCAGCTG	0.662																																						ENST00000373779.3		NA																	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.(2569-2571)aCg>aTg		protein tyrosine phosphatase, receptor type, U		C	MET/THR,MET/THR,MET/THR,MET/THR	1,4405	2.1+/-5.4	0,1,2202	46.0	50.0	49.0		2570,2600,2570,2570	4.1	1.0	1	dbSNP_134	49	0,8600		0,0,4300	no	missense,missense,missense,missense	PTPRU	NM_001195001.1,NM_005704.4,NM_133177.3,NM_133178.3	81,81,81,81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	857/1434,867/1447,857/1441,857/1437	29630460	1,13005	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.chr1:29630460C>T	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.2600C>T	1.37:g.29630460C>T	ENSP00000334941:p.Thr867Met	True	False		Somatic	0				PTPRU_ENST00000345512.3_Missense_Mutation_p.T867M|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000356870.3_Missense_Mutation_p.T857M|PTPRU_ENST00000428026.2_Missense_Mutation_p.T857M|PTPRU_ENST00000323874.8_Missense_Mutation_p.T857M|PTPRU_ENST00000460170.2_Missense_Mutation_p.T857M	p.T857M	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	WXS	Illumina HiSeq	Phase_I	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)	16	2699	+		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)	867			Mediates interaction with CTNNB1 (By similarity).		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	ENST00000345512.3	37	c.2570C>T	CCDS334.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647094	0.87958	2.27E-4	0.0	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.35973	1.33;1.34;1.34;1.34;1.28;1.34	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	L	0.57536	1.79	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;P;P	0.66351	0.943;0.943;0.943;0.879;0.868	T	0.52079	-0.8623	9	.	.	.	.	16.6429	0.85134	0.0:1.0:0.0:0.0	.	857;857;857;857;867	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	M	867;857;857;857;857;857	ENSP00000334941:T867M;ENSP00000362884:T857M;ENSP00000349333:T857M;ENSP00000314987:T857M;ENSP00000392332:T857M;ENSP00000432906:T857M	.	T	+	2	0	PTPRU	29503047	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	7.535000	0.82014	2.592000	0.87571	0.561000	0.74099	ACG		0.662	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1	0			1:29630460
OR2M5	127059	broad.mit.edu	37	1	248309150	248309150	+	Missense_Mutation	SNP	G	G	A	rs147580819		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:248309150G>A	ENST00000366476.1	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GGAGAGGGTCGTCGCAAAGCT	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		21867	0.0		0.001	False		,,,				2504	0.0					ENST00000366476.1		NA																	0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(700-702)cGt>cAt		olfactory receptor, family 2, subfamily M, member 5		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	259.0	244.0	249.0		701	1.3	0.0	1	dbSNP_134	249	0,8600		0,0,4300	no	missense	OR2M5	NM_001004690.1	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	234/313	248309150	1,13005	2203	4300	6503	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248309150G>A		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.701G>A	1.37:g.248309150G>A	ENSP00000355432:p.Arg234His	False	False		Somatic	0					p.R234H	NM_001004690.1	NP_001004690.1	WXS	Illumina HiSeq	Phase_I	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	701	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		234						Missense_Mutation	SNP	ENST00000366476.1	37	c.701G>A	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	g	9.703	1.154991	0.21371	2.27E-4	0.0	ENSG00000162727	ENST00000366476	T	0.00333	8.07	3.28	1.33	0.21861	GPCR, rhodopsin-like superfamily (1);	1.008340	0.08001	N	0.988776	T	0.00412	0.0013	M	0.83483	2.645	0.09310	N	1	B	0.15473	0.013	B	0.12837	0.008	T	0.42189	-0.9466	10	0.72032	D	0.01	.	8.818	0.35007	0.1975:0.0:0.8025:0.0	.	234	A3KFT3	OR2M5_HUMAN	H	234	ENSP00000355432:R234H	ENSP00000355432:R234H	R	+	2	0	OR2M5	246375773	0.000000	0.05858	0.000000	0.03702	0.702000	0.40608	0.556000	0.23438	0.062000	0.16340	-0.326000	0.08463	CGT		0.463	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	0	NM_001004690		1:248309150
ANK1	286	broad.mit.edu	37	8	41519413	41519413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr8:41519413G>A	ENST00000347528.4	-	41	5608	c.5525C>T	c.(5524-5526)gCc>gTc	p.A1842V	ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|MIR486_ENST00000408108.1_RNA|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396942.1_Missense_Mutation_p.A1842V|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1842	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCCTGGGCGGCATCGGCGCT	0.572																																						ENST00000396942.1		NA																	0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5524-5526)gCc>gTc		ankyrin 1, erythrocytic							50.0	55.0	53.0					8																	41519413		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41519413G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5525C>T	8.37:g.41519413G>A	ENSP00000339620:p.Ala1842Val	False	False		Somatic	0				ANK1_ENST00000522231.1_Missense_Mutation_p.A117V|ANK1_ENST00000265709.8_Missense_Mutation_p.A1883V|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000379758.2_Intron|ANK1_ENST00000314214.8_Missense_Mutation_p.A117V|ANK1_ENST00000347528.4_Missense_Mutation_p.A1842V|ANK1_ENST00000352337.4_Intron|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000522543.1_Missense_Mutation_p.A117V|ANK1_ENST00000289734.7_Missense_Mutation_p.A1842V|ANK1_ENST00000457297.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA	p.A1842V			WXS	Illumina HiSeq	Phase_I	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		41	5608	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1842			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.5525C>T	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	G	9.965	1.223834	0.22457	.	.	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000396942;ENST00000522231;ENST00000522543;ENST00000314214;ENST00000265709	T;T;T;D;D;D;T	0.86432	-0.2;-0.18;-0.18;-1.71;-2.11;-2.12;-0.23	5.94	2.12	0.27331	.	0.199600	0.40144	N	0.001173	T	0.81645	0.4866	L	0.42245	1.32	0.53005	D	0.99996	P;B;B;B;B;B;B;P;P	0.39940	0.481;0.005;0.125;0.001;0.0;0.0;0.076;0.572;0.696	B;B;B;B;B;B;B;B;B	0.41946	0.137;0.002;0.056;0.0;0.0;0.001;0.042;0.371;0.173	T	0.76465	-0.2949	10	0.42905	T	0.14	.	8.182	0.31315	0.0:0.0672:0.2624:0.6704	.	117;1883;1680;1842;1842;1842;996;117;117	Q6PK32;P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39;Q53ER1;E5RFL7	.;.;.;ANK1_HUMAN;.;.;.;.;.	V	1842;1842;1842;117;117;117;1883	ENSP00000339620:A1842V;ENSP00000289734:A1842V;ENSP00000380147:A1842V;ENSP00000428750:A117V;ENSP00000430368:A117V;ENSP00000319123:A117V;ENSP00000265709:A1883V	ENSP00000265709:A1883V	A	-	2	0	ANK1	41638570	0.851000	0.29673	0.459000	0.27081	0.000000	0.00434	0.325000	0.19628	0.502000	0.28037	-0.397000	0.06425	GCC		0.572	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	0	NM_020475		8:41519413
JADE2	23338	broad.mit.edu	37	5	133895608	133895608	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:133895608G>T	ENST00000402835.1	+	5	655	c.400G>T	c.(400-402)Ggc>Tgc	p.G134C	PHF15_ENST00000361895.2_Missense_Mutation_p.G134C|PHF15_ENST00000282605.4_Missense_Mutation_p.G134C|PHF15_ENST00000395003.1_Missense_Mutation_p.G134C																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCCAGGGGGCAGCCGCTA	0.577																																						ENST00000395003.1		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(400-402)Ggc>Tgc									60.0	53.0	56.0					5																	133895608		2203	4300	6503	SO:0001583	missense	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133895608G>T																												ENST00000402835.1:c.400G>T	5.37:g.133895608G>T	ENSP00000384671:p.Gly134Cys	True	False		Somatic	0				PHF15_ENST00000361895.2_Missense_Mutation_p.G134C|PHF15_ENST00000282605.4_Missense_Mutation_p.G134C|PHF15_ENST00000402835.1_Missense_Mutation_p.G134C	p.G134C	NM_015288.4	NP_056103.4	WXS	Illumina HiSeq	Phase_I	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	579	+			134						Missense_Mutation	SNP	ENST00000402835.1	37	c.400G>T		.	.	.	.	.	.	.	.	.	.	G	16.71	3.199404	0.58126	.	.	ENSG00000043143	ENST00000512386;ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000402835;ENST00000395003;ENST00000431355	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	4.9	4.9	0.64082	Enhancer of polycomb-like, N-terminal (1);	0.633849	0.16279	N	0.221443	T	0.39809	0.1092	N	0.08118	0	0.31045	N	0.715894	P;P;P;P;P	0.44521	0.491;0.837;0.491;0.804;0.711	P;P;P;B;P	0.56343	0.704;0.722;0.704;0.195;0.796	T	0.35649	-0.9780	10	0.45353	T	0.12	.	6.4953	0.22138	0.0974:0.0:0.7182:0.1844	.	134;134;134;134;150	Q9NQC1;B5MBX1;D3DQA3;Q9NQC1-3;B3KPL2	JADE2_HUMAN;.;.;.;.	C	134;134;150;134;134;134;134;134;134	ENSP00000422991:G134C;ENSP00000282605:G134C;ENSP00000354425:G134C;ENSP00000384671:G134C;ENSP00000378451:G134C;ENSP00000406189:G134C	ENSP00000282605:G134C	G	+	1	0	PHF15	133923507	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	1.819000	0.39022	2.659000	0.90383	0.561000	0.74099	GGC		0.577	PHF15-007	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000318543.1	0			5:133895608
CAPN9	10753	broad.mit.edu	37	1	230928629	230928629	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:230928629G>A	ENST00000271971.2	+	17	1938	c.1825G>A	c.(1825-1827)Ggc>Agc	p.G609S	RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000354537.1_Missense_Mutation_p.G583S|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000480004.1_3'UTR|CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S	NM_006615.2	NP_006606.1	O14815	CAN9_HUMAN	calpain 9	609	Domain IV.|EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TGACAAGTCCGGCACCATGTC	0.512																																						ENST00000354537.1		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1747-1749)Ggc>Agc		calpain 9							156.0	157.0	156.0					1																	230928629		2203	4300	6503	SO:0001583	missense	10753				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr1:230928629G>A	AF022799	CCDS1586.1, CCDS31053.1	1q42.11-q42.3	2013-01-10	2004-11-11		ENSG00000135773	ENSG00000135773		"""EF-hand domain containing"""	1486	protein-coding gene	gene with protein product	"""novel calpain large subunit-4"""	606401	"""calpain 9 (nCL-4)"""			9524069, 10835488	Standard	XM_005273010		Approved	nCL-4, GC36	uc001htz.1	O14815	OTTHUMG00000037779	ENST00000271971.2:c.1825G>A	1.37:g.230928629G>A	ENSP00000271971:p.Gly609Ser	False	False		Somatic	0				RP11-99J16__A.2_ENST00000428480.1_RNA|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000366666.2_Missense_Mutation_p.G546S|CAPN9_ENST00000271971.2_Missense_Mutation_p.G609S|RP11-99J16__A.2_ENST00000412344.1_RNA	p.G583S	NM_016452.1	NP_057536.1	WXS	Illumina HiSeq	Phase_I	O14815	CAN9_HUMAN			16	1829	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	609			Domain IV.|EF-hand 2.		B1APS1|B1AQI0|Q9NS74	Missense_Mutation	SNP	ENST00000271971.2	37	c.1747G>A	CCDS1586.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649288	0.87958	.	.	ENSG00000135773	ENST00000271971;ENST00000354537;ENST00000366666	D;D;D	0.85339	-1.97;-1.97;-1.97	5.49	4.57	0.56435	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94138	0.8120	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.95185	0.8303	10	0.66056	D	0.02	.	13.7944	0.63162	0.0746:0.0:0.9254:0.0	.	546;583;609	E7ESS6;O14815-2;O14815	.;.;CAN9_HUMAN	S	609;583;546	ENSP00000271971:G609S;ENSP00000346538:G583S;ENSP00000355626:G546S	ENSP00000271971:G609S	G	+	1	0	CAPN9	228995252	1.000000	0.71417	0.868000	0.34077	0.964000	0.63967	7.352000	0.79404	1.314000	0.45095	0.655000	0.94253	GGC		0.512	CAPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092179.1	0	NM_006615		1:230928629
ANKS4B	257629	broad.mit.edu	37	16	21261762	21261762	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:21261762G>C	ENST00000311620.5	+	2	948	c.875G>C	c.(874-876)aGa>aCa	p.R292T		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	292					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GATAGCAAGAGAGAGTTTGGT	0.458																																						ENST00000311620.5		NA																	0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(874-876)aGa>aCa		ankyrin repeat and sterile alpha motif domain containing 4B							96.0	101.0	100.0					16																	21261762		1996	4175	6171	SO:0001583	missense	257629							g.chr16:21261762G>C	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.875G>C	16.37:g.21261762G>C	ENSP00000308772:p.Arg292Thr	True	False		Somatic	0					p.R292T	NM_145865.2	NP_665872.2	WXS	Illumina HiSeq	Phase_I	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	2	948	+			292						Missense_Mutation	SNP	ENST00000311620.5	37	c.875G>C	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	4.587	0.108980	0.08780	.	.	ENSG00000175311	ENST00000311620	T	0.44881	0.91	5.77	4.8	0.61643	.	0.168743	0.53938	N	0.000044	T	0.44932	0.1317	M	0.70595	2.14	0.41181	D	0.986238	B	0.02656	0.0	B	0.04013	0.001	T	0.44236	-0.9341	10	0.59425	D	0.04	-10.1277	14.5212	0.67851	0.0:0.1479:0.8521:0.0	.	292	Q8N8V4	ANS4B_HUMAN	T	292	ENSP00000308772:R292T	ENSP00000308772:R292T	R	+	2	0	ANKS4B	21169263	0.614000	0.27017	0.963000	0.40424	0.060000	0.15804	1.431000	0.34925	1.416000	0.47057	-0.282000	0.10007	AGA		0.458	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	0	NM_145865		16:21261762
PRUNE2	158471	broad.mit.edu	37	9	79320990	79320990	+	Missense_Mutation	SNP	G	G	A	rs374932024		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:79320990G>A	ENST00000376718.3	-	8	6323	c.6200C>T	c.(6199-6201)gCg>gTg	p.A2067V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.A1708V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2067					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGTCAGGCGCGGCAGAGGC	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		20429	0.001		0.0	False		,,,				2504	0.0					ENST00000428286.1		NA																	0				endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						c.(5122-5124)gCg>gTg		prune homolog 2 (Drosophila)		G	VAL/ALA	0,3136		0,0,1568	136.0	128.0	131.0		6200	3.9	0.0	9		131	1,7163		0,1,3581	no	missense	PRUNE2	NM_015225.2	64	0,1,5149	AA,AG,GG		0.014,0.0,0.0097	benign	2067/3089	79320990	1,10299	1568	3582	5150	SO:0001583	missense	158471				apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	g.chr9:79320990G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6200C>T	9.37:g.79320990G>A	ENSP00000365908:p.Ala2067Val	False	False		Somatic	0				PRUNE2_ENST00000376718.3_Missense_Mutation_p.A2067V	p.A1708V			WXS	Illumina HiSeq	Phase_I	Q8WUY3	PRUN2_HUMAN			8	6323	-			2067					B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	c.5123C>T	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	2.507	-0.313854	0.05422	0.0	1.4E-4	ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033	T;T	0.42131	0.98;0.98	6.03	3.94	0.45596	.	0.708846	0.12837	N	0.435169	T	0.20577	0.0495	N	0.14661	0.345	0.09310	N	1	B	0.15930	0.015	B	0.09377	0.004	T	0.27606	-1.0069	10	0.05959	T	0.93	-5.9616	6.8158	0.23829	0.0987:0.0:0.5223:0.379	.	2067	Q8WUY3	PRUN2_HUMAN	V	2067;1708;2066	ENSP00000365908:A2067V;ENSP00000397425:A1708V	ENSP00000365908:A2067V	A	-	2	0	PRUNE2	78510810	0.011000	0.17503	0.005000	0.12908	0.012000	0.07955	1.895000	0.39778	1.500000	0.48636	0.655000	0.94253	GCG		0.512	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	0	NM_138818		9:79320990
PSMD4	5710	broad.mit.edu	37	1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547																																						ENST00000368884.3		NA																	0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(814-816)cGc>cAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4																																				SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151238835G>A	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.815G>A	1.37:g.151238835G>A	ENSP00000357879:p.Arg272His	False	False		Somatic	0				PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	p.R272H	NM_002810.2	NP_002801.1	WXS	Illumina HiSeq	Phase_I	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	895	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		272					D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.815G>A	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098238	0.56183	.	.	ENSG00000159352	ENST00000368884;ENST00000368881	.	.	.	5.23	5.23	0.72850	.	0.227301	0.36303	N	0.002675	T	0.40522	0.1120	L	0.29908	0.895	0.42288	D	0.992129	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23583	-1.0184	9	0.42905	T	0.14	-14.4967	18.5873	0.91194	0.0:0.0:1.0:0.0	.	275;272	Q5VWC4;P55036	.;PSMD4_HUMAN	H	272;275	.	ENSP00000357876:R275H	R	+	2	0	PSMD4	149505459	0.972000	0.33761	0.659000	0.29680	0.998000	0.95712	3.889000	0.56212	2.716000	0.92895	0.655000	0.94253	CGC		0.547	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	0	NM_002810		1:151238835
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(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	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		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.chr17:7577539G>A	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	False	False	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)	Somatic	0				TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577539
LAYN	143903	broad.mit.edu	37	11	111428363	111428363	+	Silent	SNP	A	A	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:111428363A>G	ENST00000375615.3	+	7	965	c.780A>G	c.(778-780)agA>agG	p.R260R	LAYN_ENST00000436913.2_Silent_p.R107R|LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000375614.2_Silent_p.R252R|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000533265.1_Silent_p.R252R	NM_001258390.1	NP_001245319.1	Q6UX15	LAYN_HUMAN	layilin	260						cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|ruffle (GO:0001726)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	Hyaluronan(DB08818)	GGATCTGTAGAAAAAGGCAAG	0.443																																					Ovarian(17;551 586 12136 22082 22900)	ENST00000436913.2		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14						c.(319-321)agA>agG		layilin							465.0	451.0	456.0					11																	111428363		2201	4297	6498	SO:0001819	synonymous_variant	143903					cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding	g.chr11:111428363A>G		CCDS31676.1, CCDS58178.1, CCDS58179.1	11q23.1	2006-02-09			ENSG00000204381	ENSG00000204381			29471	protein-coding gene	gene with protein product						15913605	Standard	NM_001258390		Approved	FLJ30977, FLJ31092	uc001plr.2	Q6UX15	OTTHUMG00000166721	ENST00000375615.3:c.780A>G	11.37:g.111428363A>G		True	False		Somatic	0				LAYN_ENST00000525126.1_Silent_p.R260R|LAYN_ENST00000375614.2_Silent_p.R252R|LAYN_ENST00000375615.3_Silent_p.R260R|LAYN_ENST00000533265.1_Silent_p.R252R|LAYN_ENST00000528924.1_3'UTR	p.R107R	NM_001258391.1	NP_001245320.1	WXS	Illumina HiSeq	Phase_I	Q6UX15	LAYN_HUMAN		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)	5	722	+		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)	260			C-type lectin.		A6NJB0|B4DJU0|Q8TAY8|Q96NC5|Q96NF3	Silent	SNP	ENST00000375615.3	37	c.321A>G	CCDS58178.1																																																																																				0.443	LAYN-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391187.1	0	NM_178834		11:111428363
PHACTR4	65979	broad.mit.edu	37	1	28792265	28792265	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:28792265C>T	ENST00000373839.3	+	5	602	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PHACTR4_ENST00000373836.3_Missense_Mutation_p.A124V|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	114					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ATAGGGAATGCCAGATCATCT	0.463																																						ENST00000373839.3		NA																	0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(340-342)gCc>gTc		phosphatase and actin regulator 4							157.0	146.0	150.0					1																	28792265		1892	4123	6015	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28792265C>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.341C>T	1.37:g.28792265C>T	ENSP00000362945:p.Ala114Val	False	False		Somatic	0				PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.A124V	p.A114V	NM_001048183.1	NP_001041648.1	WXS	Illumina HiSeq	Phase_I	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	5	602	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	114					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.341C>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	4.838	0.155841	0.09236	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.34275	1.37;1.37	5.03	4.1	0.47936	.	1.184050	0.06004	N	0.648230	T	0.29423	0.0733	L	0.27053	0.805	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.003	B;B;B	0.09377	0.004;0.002;0.003	T	0.19582	-1.0301	10	0.30854	T	0.27	0.1306	10.8568	0.46804	0.0:0.9105:0.0:0.0895	.	124;114;98	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	V	114;124;113	ENSP00000362945:A114V;ENSP00000362942:A124V	ENSP00000362942:A124V	A	+	2	0	PHACTR4	28664852	0.004000	0.15560	0.013000	0.15412	0.029000	0.11900	1.972000	0.40540	1.315000	0.45114	0.655000	0.94253	GCC		0.463	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	0	NM_023923		1:28792265
SNAP47	116841	broad.mit.edu	37	1	227947156	227947156	+	Missense_Mutation	SNP	G	G	A	rs183802543		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:227947156G>A	ENST00000366759.4	+	3	1507	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	SNAP47_ENST00000366760.1_Missense_Mutation_p.A123T|SNAP47_ENST00000315781.5_Missense_Mutation_p.A365T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	365					long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.A365T(1)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCTTCCCCCGCAGAGAAGAG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		20427	0.0		0.001	False		,,,				2504	0.0					ENST00000366759.4		NA																	1	Substitution - Missense(1)	p.A365T(1)	large_intestine(1)	endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1093-1095)Gca>Aca		synaptosomal-associated protein, 47kDa		G	THR/ALA	0,4406		0,0,2203	115.0	118.0	117.0		1093	1.1	0.0	1		117	1,8599	1.2+/-3.3	0,1,4299	no	missense	SNAP47	NM_053052.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	365/465	227947156	1,13005	2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227947156G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1093G>A	1.37:g.227947156G>A	ENSP00000355721:p.Ala365Thr	True	False		Somatic	0				SNAP47_ENST00000366760.1_Missense_Mutation_p.A123T|SNAP47_ENST00000315781.5_Missense_Mutation_p.A365T	p.A365T	NM_053052.3	NP_444280.2	WXS	Illumina HiSeq	Phase_I	Q5SQN1	SNP47_HUMAN			3	1507	+			365					B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.1093G>A	CCDS1562.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	5.504|5.504	0.277926|0.277926	0.10403|0.10403	0.0|0.0	1.16E-4|1.16E-4	ENSG00000143740|ENSG00000143740	ENST00000366760;ENST00000366759;ENST00000315781|ENST00000418653;ENST00000426344	T;T;T|.	0.45668|.	0.89;2.2;2.18|.	5.04|5.04	1.08|1.08	0.20341|0.20341	.|.	0.734758|.	0.13883|.	N|.	0.356219|.	T|T	0.45438|0.45438	0.1342|0.1342	M|M	0.67953|0.67953	2.075|2.075	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.33379|.	0.001;0.196;0.41;0.41;0.196|.	B;B;B;B;B|.	0.25140|.	0.005;0.008;0.058;0.049;0.011|.	T|T	0.35724|0.35724	-0.9777|-0.9777	10|5	0.14656|.	T|.	0.56|.	-15.4879|-15.4879	7.4981|7.4981	0.27500|0.27500	0.445:0.0:0.555:0.0|0.445:0.0:0.555:0.0	.|.	123;365;177;365;123|.	Q5SQN1-3;Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4|.	.;SNP47_HUMAN;.;.;.|.	T|H	123;365;365|177;356	ENSP00000355722:A123T;ENSP00000355721:A365T;ENSP00000314157:A365T|.	ENSP00000314157:A365T|.	A|R	+|+	1|2	0|0	SNAP47|SNAP47	226013779|226013779	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.011000|0.011000	0.07611|0.07611	0.327000|0.327000	0.19663|0.19663	0.045000|0.045000	0.15804|0.15804	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.517	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	0	NM_053052		1:227947156
SLC32A1	140679	broad.mit.edu	37	20	37356192	37356192	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr20:37356192G>A	ENST00000217420.1	+	2	751	c.488G>A	c.(487-489)gGc>gAc	p.G163D		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	163					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGCTACACCGGCAAGATCCTC	0.637																																						ENST00000217420.1		NA																	0				breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38						c.(487-489)gGc>gAc		solute carrier family 32 (GABA vesicular transporter), member 1	Glycine(DB00145)						79.0	64.0	69.0					20																	37356192		2203	4300	6503	SO:0001583	missense	140679				neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity	g.chr20:37356192G>A	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.488G>A	20.37:g.37356192G>A	ENSP00000217420:p.Gly163Asp	False	False		Somatic	0					p.G163D	NM_080552.2	NP_542119.1	WXS	Illumina HiSeq	Phase_I	Q9H598	VIAAT_HUMAN			2	751	+		Myeloproliferative disorder(115;0.00878)	163					Q8N489	Missense_Mutation	SNP	ENST00000217420.1	37	c.488G>A	CCDS13307.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208888	0.79240	.	.	ENSG00000101438	ENST00000217420	T	0.02345	4.33	4.43	4.43	0.53597	.	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	M	0.81112	2.525	0.80722	D	1	D	0.67145	0.996	D	0.72075	0.976	T	0.00406	-1.1759	10	0.51188	T	0.08	-22.1911	14.5807	0.68288	0.0:0.0:1.0:0.0	.	163	Q9H598	VIAAT_HUMAN	D	163	ENSP00000217420:G163D	ENSP00000217420:G163D	G	+	2	0	SLC32A1	36789606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.631000	0.98424	2.317000	0.78254	0.563000	0.77884	GGC		0.637	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079206.1	0	NM_080552		20:37356192
LVRN	206338	broad.mit.edu	37	5	115351411	115351411	+	Missense_Mutation	SNP	G	G	A	rs186045980		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:115351411G>A	ENST00000357872.4	+	18	2829	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q	AQPEP_ENST00000515454.1_3'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		902						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										GAAGTTGGCCGGTATGTCGCA	0.408																																						ENST00000357872.4		NA																	0					NA						c.(2704-2706)cGg>cAg				G	GLN/ARG	1,4403	2.1+/-5.4	0,1,2201	78.0	77.0	78.0		2705	0.7	0.0	5		78	3,8597	3.0+/-9.4	0,3,4297	yes	missense	AQPEP	NM_173800.4	43	0,4,6498	AA,AG,GG		0.0349,0.0227,0.0308	possibly-damaging	902/991	115351411	4,13000	2202	4300	6502	SO:0001583	missense	0				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding	g.chr5:115351411G>A																												ENST00000357872.4:c.2705G>A	5.37:g.115351411G>A	ENSP00000350541:p.Arg902Gln	False	False		Somatic	0				AQPEP_ENST00000515454.1_3'UTR	p.R902Q	NM_173800.4	NP_776161.3	WXS	Illumina HiSeq	Phase_I	Q6Q4G3	AMPQ_HUMAN			18	2829	+			902					A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	c.2705G>A	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896123	0.33442	2.27E-4	3.49E-4	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.07908	3.15	5.6	0.743	0.18347	.	0.296928	0.24198	N	0.040657	T	0.05318	0.0141	N	0.17594	0.5	0.09310	N	1	D	0.61697	0.99	P	0.51550	0.673	T	0.19192	-1.0313	10	0.05833	T	0.94	.	4.4203	0.11477	0.3159:0.0:0.5388:0.1453	.	902	Q6Q4G3	AMPQ_HUMAN	Q	902;891	ENSP00000350541:R902Q	ENSP00000350541:R902Q	R	+	2	0	AC010282.1	115379310	0.005000	0.15991	0.032000	0.17829	0.747000	0.42532	0.827000	0.27421	-0.148000	0.11234	-0.471000	0.05019	CGG		0.408	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1	0			5:115351411
GRK6	2870	broad.mit.edu	37	5	176860178	176860178	+	Silent	SNP	T	T	C			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:176860178T>C	ENST00000355472.5	+	6	639	c.471T>C	c.(469-471)ccT>ccC	p.P157P	GRK6_ENST00000393576.3_Silent_p.P157P|GRK6_ENST00000528793.1_Silent_p.P157P|GRK6_ENST00000507633.1_Silent_p.P157P|GRK6_ENST00000355958.5_Silent_p.P157P	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	157	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTGGCCCCTTTTGCCGACT	0.627																																						ENST00000355472.5		NA																	0				breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25						c.(469-471)ccT>ccC		G protein-coupled receptor kinase 6							105.0	95.0	98.0					5																	176860178		2203	4300	6503	SO:0001819	synonymous_variant	2870				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr5:176860178T>C		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.471T>C	5.37:g.176860178T>C		True	False		Somatic	0				GRK6_ENST00000393576.3_Silent_p.P157P|GRK6_ENST00000507633.1_Silent_p.P157P|GRK6_ENST00000528793.1_Silent_p.P157P|GRK6_ENST00000355958.5_Silent_p.P157P	p.P157P	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	WXS	Illumina HiSeq	Phase_I	P43250	GRK6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	639	+	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	157			N-terminal.|RGS.		O60541|Q13652	Silent	SNP	ENST00000355472.5	37	c.471T>C	CCDS34303.1																																																																																				0.627	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373204.1	0	NM_002082		5:176860178
MXRA5	25878	broad.mit.edu	37	X	3242386	3242386	+	Missense_Mutation	SNP	G	G	A	rs146759954	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:3242386G>A	ENST00000217939.6	-	5	1494	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	447						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTCTTGGCCGTACTCTGACG	0.488													G|||	1	0.000264901	0.0008	0.0	3775	,	,		15729	0.0		0.0	False		,,,				2504	0.0					ENST00000217939.6		NA																	0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(1339-1341)aCg>aTg		matrix-remodelling associated 5		G	MET/THR	1,3834		0,1,0,1631,571	128.0	125.0	126.0		1340	3.6	0.0	X	dbSNP_134	126	3,6725		0,1,2,2427,1870	yes	missense	MXRA5	NM_015419.3	81	0,2,2,4058,2441	AA,AG,A,GG,G		0.0446,0.0261,0.0379	possibly-damaging	447/2829	3242386	4,10559	2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3242386G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.1340C>T	X.37:g.3242386G>A	ENSP00000217939:p.Thr447Met	False	False		Somatic	0					p.T447M	NM_015419.3	NP_056234.2	WXS	Illumina HiSeq	Phase_I	Q9NR99	MXRA5_HUMAN			5	1494	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	447					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.1340C>T	CCDS14124.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.72	1.724062	0.30593	2.61E-4	4.46E-4	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.75050	-0.9	3.63	3.63	0.41609	.	0.177406	0.26673	U	0.023082	T	0.80793	0.4691	M	0.76002	2.32	0.25976	N	0.982438	D	0.76494	0.999	P	0.57846	0.828	T	0.72874	-0.4160	10	0.72032	D	0.01	.	9.133	0.36857	0.1065:0.0:0.8935:0.0	.	447	Q9NR99	MXRA5_HUMAN	M	447	ENSP00000217939:T447M	ENSP00000217939:T447M	T	-	2	0	MXRA5	3252386	1.000000	0.71417	0.006000	0.13384	0.069000	0.16628	5.122000	0.64697	1.439000	0.47511	0.431000	0.28591	ACG		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	0	NM_015419		X:3242386
PDCD4	27250	broad.mit.edu	37	10	112641004	112641004	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:112641004A>T	ENST00000280154.7	+	3	331	c.57A>T	c.(55-57)ttA>ttT	p.L19F	PDCD4_ENST00000393104.2_Missense_Mutation_p.L8F	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	19					apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTGATAACTTAAGTGACTCTC	0.308																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000393104.2		NA																	0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(22-24)ttA>ttT		programmed cell death 4 (neoplastic transformation inhibitor)							61.0	71.0	68.0					10																	112641004		2203	4300	6503	SO:0001583	missense	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112641004A>T	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.57A>T	10.37:g.112641004A>T	ENSP00000280154:p.Leu19Phe	False	False		Somatic	0				PDCD4_ENST00000280154.7_Missense_Mutation_p.L19F	p.L8F	NM_145341.3	NP_663314.1	WXS	Illumina HiSeq	Phase_I	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	4	384	+		Breast(234;0.0848)|Lung NSC(174;0.238)	19					B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Missense_Mutation	SNP	ENST00000280154.7	37	c.24A>T	CCDS7567.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153586	0.57259	.	.	ENSG00000150593	ENST00000280154;ENST00000393104	T;T	0.40756	1.02;1.12	5.42	4.29	0.51040	.	0.071705	0.56097	D	0.000024	T	0.35422	0.0931	N	0.20685	0.6	0.51233	D	0.999912	D;P	0.65815	0.995;0.845	P;B	0.56278	0.795;0.261	T	0.13415	-1.0510	10	0.10377	T	0.69	-8.0641	8.1263	0.31001	0.7861:0.0:0.2139:0.0	.	19;8	Q53EL6;B5ME91	PDCD4_HUMAN;.	F	19;8	ENSP00000280154:L19F;ENSP00000376816:L8F	ENSP00000280154:L19F	L	+	3	2	PDCD4	112630994	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.052000	0.30429	1.002000	0.39104	-0.334000	0.08254	TTA		0.308	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	0	NM_014456		10:112641004
CXorf57	55086	broad.mit.edu	37	X	105855530	105855530	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chrX:105855530G>A	ENST00000372548.4	+	1	329	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	CXorf57_ENST00000372544.2_Missense_Mutation_p.V74I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	74							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGTGCTGGCCGTCCAGAGGTA	0.567																																						ENST00000372548.4		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(220-222)Gtc>Atc		chromosome X open reading frame 57							96.0	84.0	88.0					X																	105855530		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105855530G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.220G>A	X.37:g.105855530G>A	ENSP00000361628:p.Val74Ile	False	False		Somatic	0				CXorf57_ENST00000372544.2_Missense_Mutation_p.V74I	p.V74I	NM_018015.5	NP_060485.4	WXS	Illumina HiSeq	Phase_I	Q6NSI4	CX057_HUMAN			1	329	+			74					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.220G>A	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.122698	0.37436	.	.	ENSG00000147231	ENST00000372544;ENST00000372548	T;T	0.80304	-1.36;-1.36	3.47	1.69	0.24217	Nucleic acid-binding, OB-fold-like (1);	0.292022	0.28338	N	0.015703	T	0.70518	0.3233	M	0.64997	1.995	0.26035	N	0.981682	P;P;B	0.36125	0.538;0.538;0.366	B;B;B	0.29942	0.109;0.109;0.035	T	0.58446	-0.7635	10	0.30078	T	0.28	-2.4941	7.0559	0.25099	0.233:0.0:0.767:0.0	.	74;74;74	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	I	74	ENSP00000361623:V74I;ENSP00000361628:V74I	ENSP00000361623:V74I	V	+	1	0	CXorf57	105742186	0.338000	0.24775	0.468000	0.27192	0.810000	0.45777	0.505000	0.22642	0.314000	0.23086	0.600000	0.82982	GTC		0.567	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	0	NM_018015		X:105855530
UBR4	23352	broad.mit.edu	37	1	19488948	19488948	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:19488948G>A	ENST00000375254.3	-	35	4949	c.4922C>T	c.(4921-4923)gCg>gTg	p.A1641V	UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375267.2_Missense_Mutation_p.A1641V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1641					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTCTTCCACCGCCAACTCCTC	0.502																																						ENST00000375267.2		NA																	0				breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4921-4923)gCg>gTg		ubiquitin protein ligase E3 component n-recognin 4							133.0	123.0	126.0					1																	19488948		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19488948G>A	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4922C>T	1.37:g.19488948G>A	ENSP00000364403:p.Ala1641Val	False	False		Somatic	0				UBR4_ENST00000375217.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1641V|UBR4_ENST00000375254.3_Missense_Mutation_p.A1641V	p.A1641V			WXS	Illumina HiSeq	Phase_I	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	35	4925	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1641					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4922C>T	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157780	0.78114	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	6.08	6.08	0.98989	.	0.056777	0.64402	D	0.000001	T	0.41534	0.1163	N	0.12182	0.205	0.80722	D	1	P	0.43662	0.814	B	0.26693	0.072	T	0.42582	-0.9443	10	0.32370	T	0.25	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1641	Q5T4S7	UBR4_HUMAN	V	1641;1641;1641;1641;351;857	ENSP00000364403:A1641V;ENSP00000364416:A1641V;ENSP00000364365:A1641V;ENSP00000364374:A1641V	ENSP00000364365:A1641V	A	-	2	0	UBR4	19361535	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.583000	0.82559	2.894000	0.99253	0.591000	0.81541	GCG		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	0	NM_020765		1:19488948
GRHL3	57822	broad.mit.edu	37	1	24669202	24669202	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:24669202C>T	ENST00000350501.5	+	10	1352	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	GRHL3_ENST00000361548.4_Missense_Mutation_p.R409C|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363C|GRHL3_ENST00000236255.4_Missense_Mutation_p.R414C|GRHL3_ENST00000342072.4_Missense_Mutation_p.R316C	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	409					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GAGGAAGATGCGCGATGACGA	0.602																																						ENST00000361548.4		NA																	0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1225-1227)Cgc>Tgc		grainyhead-like 3 (Drosophila)							89.0	90.0	90.0					1																	24669202		2203	4300	6503	SO:0001583	missense	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24669202C>T	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1225C>T	1.37:g.24669202C>T	ENSP00000288955:p.Arg409Cys	False	False		Somatic	0				GRHL3_ENST00000236255.4_Missense_Mutation_p.R414C|GRHL3_ENST00000356046.2_Missense_Mutation_p.R363C|GRHL3_ENST00000350501.5_Missense_Mutation_p.R409C|GRHL3_ENST00000342072.4_Missense_Mutation_p.R316C	p.R409C	NM_198173.2	NP_937816.1	WXS	Illumina HiSeq	Phase_I	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	10	1455	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	409					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	c.1225C>T	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	18.77	3.694695	0.68386	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	M	0.80616	2.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.69824	0.963;0.966;0.966	T	0.46233	-0.9206	10	0.87932	D	0	-26.275	10.9458	0.47299	0.2909:0.7091:0.0:0.0	.	363;414;409	A2A297;Q8TE85-2;G3XAF0	.;.;.	C	409;316;409;363;414	ENSP00000354943:R409C;ENSP00000340543:R316C;ENSP00000288955:R409C;ENSP00000348333:R363C;ENSP00000236255:R414C	ENSP00000236255:R414C	R	+	1	0	GRHL3	24541789	0.988000	0.35896	1.000000	0.80357	0.991000	0.79684	0.145000	0.16157	2.585000	0.87301	0.655000	0.94253	CGC		0.602	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	0	NM_021180		1:24669202
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
ITGAD	3681	broad.mit.edu	37	16	31434506	31434506	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr16:31434506G>A	ENST00000389202.2	+	24	2901	c.2852G>A	c.(2851-2853)cGa>cAa	p.R951Q		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	951					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R951Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTGAGCATCGATACCGTGTG	0.498																																						ENST00000389202.2		NA																	1	Substitution - Missense(1)	p.R951Q(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2851-2853)cGa>cAa		integrin, alpha D							78.0	67.0	71.0					16																	31434506		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31434506G>A	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2852G>A	16.37:g.31434506G>A	ENSP00000373854:p.Arg951Gln	False	False		Somatic	0					p.R951Q	NM_005353.2	NP_005344.2	WXS	Illumina HiSeq	Phase_I	Q13349	ITAD_HUMAN			24	2901	+			951					Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2852G>A	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331575	0.24167	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.44482	0.92	5.59	1.43	0.22495	Integrin alpha-2 (1);	.	.	.	.	T	0.20251	0.0487	L	0.28400	0.85	0.09310	N	1	P;P	0.47034	0.889;0.889	B;B	0.28638	0.092;0.092	T	0.09443	-1.0674	9	0.20046	T	0.44	.	7.3842	0.26872	0.3411:0.0:0.6589:0.0	.	967;951	Q59H14;Q13349	.;ITAD_HUMAN	Q	967;951	ENSP00000373854:R951Q	ENSP00000373854:R951Q	R	+	2	0	ITGAD	31342007	0.000000	0.05858	0.003000	0.11579	0.453000	0.32348	-0.053000	0.11846	0.704000	0.31869	0.650000	0.86243	CGA		0.498	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	0	NM_005353		16:31434506
HECW1	23072	broad.mit.edu	37	7	43484703	43484703	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr7:43484703G>A	ENST00000395891.2	+	11	2537	c.1932G>A	c.(1930-1932)gcG>gcA	p.A644A	HECW1_ENST00000453890.1_Silent_p.A644A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	644					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAATGGCGCGGCCCAGGATG	0.711																																						ENST00000395891.2		NA																	0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(1930-1932)gcG>gcA		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							12.0	17.0	16.0					7																	43484703		2094	4189	6283	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484703G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1932G>A	7.37:g.43484703G>A		False	False		Somatic	0				HECW1_ENST00000453890.1_Silent_p.A644A	p.A644A	NM_015052.3	NP_055867.3	WXS	Illumina HiSeq	Phase_I	Q76N89	HECW1_HUMAN			11	2537	+			NA					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1932G>A	CCDS5469.2																																																																																				0.711	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	0	NM_015052		7:43484703
ROR1	4919	broad.mit.edu	37	1	64643702	64643702	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:64643702C>T	ENST00000371079.1	+	9	2353	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	ROR1_ENST00000545203.1_Missense_Mutation_p.P111S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	660	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TCGCTGGATGCCCCCTGAAGC	0.458																																						ENST00000371079.1		NA																	0				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						c.(1978-1980)Ccc>Tcc		receptor tyrosine kinase-like orphan receptor 1							77.0	77.0	77.0					1																	64643702		2203	4300	6503	SO:0001583	missense	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643702C>T	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.1978C>T	1.37:g.64643702C>T	ENSP00000360120:p.Pro660Ser	True	False		Somatic	0				ROR1_ENST00000545203.1_Missense_Mutation_p.P111S	p.P660S	NM_005012.3	NP_005003.2	WXS	Illumina HiSeq	Phase_I	Q01973	ROR1_HUMAN			9	2353	+			660			Protein kinase.		Q5VVX6|Q66K77|Q92776	Missense_Mutation	SNP	ENST00000371079.1	37	c.1978C>T	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.320339	0.23994	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	T;T	0.60299	0.2;0.2	5.98	3.07	0.35406	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.42821	D	0.000655	T	0.19765	0.0475	N	0.11560	0.145	0.80722	D	1	P	0.34934	0.476	B	0.37508	0.252	T	0.05007	-1.0912	10	0.30078	T	0.28	.	9.0314	0.36260	0.0:0.7449:0.1228:0.1323	.	660	Q01973	ROR1_HUMAN	S	660;663;111	ENSP00000360120:P660S;ENSP00000441637:P111S	ENSP00000360120:P660S	P	+	1	0	ROR1	64416290	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	2.673000	0.46858	0.405000	0.25532	0.591000	0.81541	CCC		0.458	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	0	NM_005012		1:64643702
OTP	23440	broad.mit.edu	37	5	76932865	76932865	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr5:76932865G>A	ENST00000306422.3	-	2	1366	c.228C>T	c.(226-228)agC>agT	p.S76S	OTP_ENST00000515716.1_5'Flank	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	76					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GGTCTTTGGCGCTCACCGCCA	0.711																																						ENST00000306422.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13						c.(226-228)agC>agT		orthopedia homeobox							29.0	35.0	33.0					5																	76932865		2201	4296	6497	SO:0001819	synonymous_variant	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932865G>A		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.228C>T	5.37:g.76932865G>A		False	False		Somatic	0					p.S76S	NM_032109.2	NP_115485.1	WXS	Illumina HiSeq	Phase_I	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	1366	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	76						Silent	SNP	ENST00000306422.3	37	c.228C>T	CCDS4039.1																																																																																				0.711	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2	0			5:76932865
ARHGEF10L	55160	broad.mit.edu	37	1	17950895	17950895	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:17950895T>A	ENST00000361221.3	+	13	1373	c.1214T>A	c.(1213-1215)aTg>aAg	p.M405K	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.M163K|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.M183K|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.M405K	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	405	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCCAAGTCCATGGTGCTAGAT	0.572																																						ENST00000361221.3		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1213-1215)aTg>aAg		Rho guanine nucleotide exchange factor (GEF) 10-like							269.0	216.0	234.0					1																	17950895		2203	4300	6503	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17950895T>A	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.1214T>A	1.37:g.17950895T>A	ENSP00000355060:p.Met405Lys	False	False		Somatic	0				ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.M183K|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.M163K|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.M405K|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.M366K|ARHGEF10L_ENST00000167825.4_Intron	p.M405K	NM_018125.3	NP_060595	WXS	Illumina HiSeq	Phase_I	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	13	1373	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	405			DH.		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.1214T>A	CCDS182.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.473023	0.84640	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829	T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61	4.7	4.7	0.59300	Dbl homology (DH) domain (5);	0.045343	0.85682	D	0.000000	T	0.51346	0.1669	M	0.63428	1.95	0.80722	D	1	D;P;D;D;D;D;D	0.89917	0.992;0.866;1.0;0.979;0.991;0.998;0.998	D;P;D;P;P;D;D	0.75484	0.944;0.735;0.986;0.906;0.907;0.938;0.963	T	0.54669	-0.8259	10	0.72032	D	0.01	-31.4791	13.0024	0.58683	0.0:0.0:0.0:1.0	.	183;163;405;171;366;366;405	Q5VXI4;B4DTE2;Q9HCE6-5;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;ARGAL_HUMAN	K	405;366;405;366;163;183;183	ENSP00000355060:M405K;ENSP00000399401:M366K;ENSP00000394621:M405K;ENSP00000364564:M366K;ENSP00000364569:M163K;ENSP00000364557:M183K	ENSP00000355060:M405K	M	+	2	0	ARHGEF10L	17823482	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.619000	0.83057	1.759000	0.51996	0.459000	0.35465	ATG		0.572	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	0	NM_018125		1:17950895
ZP4	57829	broad.mit.edu	37	1	238050775	238050775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:238050775G>A	ENST00000366570.4	-	5	798	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	214	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGCCAAGCGCACAGAATCC	0.507																																					NSCLC(166;160 2029 11600 18754 19936)	ENST00000366570.4		NA																	0				breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(640-642)Cgc>Tgc		zona pellucida glycoprotein 4							160.0	146.0	151.0					1																	238050775		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238050775G>A	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.640C>T	1.37:g.238050775G>A	ENSP00000355529:p.Arg214Cys	False	False		Somatic	0				RP11-193H5.1_ENST00000450451.1_RNA	p.R214C	NM_021186.3	NP_067009.1	WXS	Illumina HiSeq	Phase_I	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	798	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	214			ZP.		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.640C>T	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.827119	0.32329	.	.	ENSG00000116996	ENST00000366570	D	0.83163	-1.69	4.86	1.91	0.25777	Zona pellucida sperm-binding protein (3);	0.389295	0.28031	N	0.016872	D	0.88194	0.6371	M	0.79805	2.47	0.09310	N	1	D	0.71674	0.998	P	0.61722	0.893	T	0.80106	-0.1521	10	0.87932	D	0	-5.2811	8.9227	0.35621	0.2535:0.0:0.7465:0.0	.	214	Q12836	ZP4_HUMAN	C	214	ENSP00000355529:R214C	ENSP00000355529:R214C	R	-	1	0	ZP4	236117398	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	0.601000	0.24119	0.196000	0.20367	0.655000	0.94253	CGC		0.507	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1	0			1:238050775
MYBBP1A	10514	broad.mit.edu	37	17	4453441	4453441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr17:4453441G>A	ENST00000254718.4	-	9	1537	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R411W			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	411	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AACATGGCCCGCAGCCAGGCC	0.597																																						ENST00000254718.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(1231-1233)Cgg>Tgg		MYB binding protein (P160) 1a							68.0	77.0	74.0					17																	4453441		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4453441G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.1231C>T	17.37:g.4453441G>A	ENSP00000254718:p.Arg411Trp	True	False		Somatic	0				MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R411W	p.R411W			WXS	Illumina HiSeq	Phase_I	Q9BQG0	MBB1A_HUMAN			9	1537	-			411			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.1231C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462466	0.43736	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.52057	0.68;0.68	5.06	5.06	0.68205	Armadillo-type fold (1);	0.730054	0.13638	N	0.373192	T	0.52549	0.1741	L	0.51422	1.61	0.25166	N	0.990316	D;D	0.60160	0.987;0.984	P;P	0.52909	0.713;0.59	T	0.44559	-0.9320	10	0.41790	T	0.15	-17.3908	10.9319	0.47222	0.0:0.0:0.8133:0.1867	.	411;411	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	W	411	ENSP00000370968:R411W;ENSP00000254718:R411W	ENSP00000254718:R411W	R	-	1	2	MYBBP1A	4400190	0.867000	0.29959	0.946000	0.38457	0.017000	0.09413	4.116000	0.57871	2.642000	0.89623	0.655000	0.94253	CGG		0.597	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	0	NM_014520		17:4453441
ACSL5	51703	broad.mit.edu	37	10	114185121	114185121	+	Missense_Mutation	SNP	G	G	A	rs201183294		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr10:114185121G>A	ENST00000393081.1	+	18	1926	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H|ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H|ACSL5_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H	NM_203380.1	NP_976314.1	Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5	540					cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		ATCATCGACCGTAAAAAGAAC	0.388																																						ENST00000393081.1		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(1618-1620)cGt>cAt		acyl-CoA synthetase long-chain family member 5							103.0	96.0	99.0					10																	114185121		2203	4300	6503	SO:0001583	missense	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114185121G>A	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000393081.1:c.1619G>A	10.37:g.114185121G>A	ENSP00000376796:p.Arg540His	False	False		Somatic	0				ACSL5_ENST00000356116.1_Missense_Mutation_p.R596H|ACSL5_ENST00000369410.3_Missense_Mutation_p.R322H|ACSL5_ENST00000354273.4_Missense_Mutation_p.R540H|ACSL5_ENST00000433418.1_Missense_Mutation_p.R540H|ACSL5_ENST00000354655.4_Missense_Mutation_p.R540H	p.R540H	NM_203380.1	NP_976314.1	WXS	Illumina HiSeq	Phase_I	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	18	1926	+		Colorectal(252;0.117)|Breast(234;0.222)	540					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Missense_Mutation	SNP	ENST00000393081.1	37	c.1619G>A	CCDS7573.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397637	0.96009	.	.	ENSG00000197142	ENST00000354655;ENST00000393081;ENST00000356116;ENST00000433418;ENST00000354273;ENST00000369410	T;T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18;0.18	5.76	5.76	0.90799	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.89230	0.6656	H	0.99944	5.01	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.999;0.999	D	0.94232	0.7477	10	0.87932	D	0	-12.4887	19.9576	0.97228	0.0:0.0:1.0:0.0	.	322;540;596;540	B4DX30;A6GV77;Q9ULC5-3;Q9ULC5	.;.;.;ACSL5_HUMAN	H	540;540;596;540;540;322	ENSP00000346680:R540H;ENSP00000376796:R540H;ENSP00000348429:R596H;ENSP00000403647:R540H;ENSP00000346223:R540H;ENSP00000358418:R322H	ENSP00000346223:R540H	R	+	2	0	ACSL5	114175111	1.000000	0.71417	0.964000	0.40570	0.869000	0.49853	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	CGT		0.388	ACSL5-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	0	NM_016234		10:114185121
NOL12	79159	broad.mit.edu	37	22	38084889	38084889	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr22:38084889G>A	ENST00000359114.4	+	4	341	c.271G>A	c.(271-273)Gca>Aca	p.A91T	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	91						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					GTTGGTGACAGCAAAGACGGA	0.642																																						ENST00000359114.4		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8						c.(271-273)Gca>Aca		nucleolar protein 12							182.0	151.0	162.0					22																	38084889		2203	4300	6503	SO:0001583	missense	79159					nucleolus	rRNA binding	g.chr22:38084889G>A	Z83844	CCDS13955.1	22q13.1	2012-05-02			ENSG00000256872	ENSG00000273899			28585	protein-coding gene	gene with protein product						12477932	Standard	NM_024313		Approved	MGC3731, Nop25, RRP17	uc003atp.3	Q9UGY1	OTTHUMG00000150660	ENST00000359114.4:c.271G>A	22.37:g.38084889G>A	ENSP00000352021:p.Ala91Thr	False	False		Somatic	0				NOL12_ENST00000493862.1_3'UTR	p.A91T	NM_024313.2	NP_077289.1	WXS	Illumina HiSeq	Phase_I	Q9UGY1	NOL12_HUMAN			4	341	+	Melanoma(58;0.0574)		91						Missense_Mutation	SNP	ENST00000359114.4	37	c.271G>A	CCDS13955.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298685	0.60195	.	.	ENSG00000256872	ENST00000359114	D	0.83755	-1.76	5.47	4.42	0.53409	.	0.363801	0.32671	N	0.005785	T	0.69646	0.3134	N	0.08118	0	0.22171	N	0.99931	P	0.43578	0.811	B	0.43838	0.433	T	0.66064	-0.6016	10	0.66056	D	0.02	-8.0737	10.4831	0.44706	0.0:0.0:0.6681:0.3319	.	91	Q9UGY1	NOL12_HUMAN	T	91	ENSP00000352021:A91T	ENSP00000352021:A91T	A	+	1	0	Z83844.2	36414835	0.998000	0.40836	0.974000	0.42286	0.956000	0.61745	4.015000	0.57152	2.573000	0.86826	0.655000	0.94253	GCA		0.642	NOL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319476.1	0	NM_024313		22:38084889
PIGR	5284	broad.mit.edu	37	1	207105858	207105858	+	Silent	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:207105858G>A	ENST00000356495.4	-	8	2134	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	PIGR_ENST00000487208.1_5'Flank	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	651					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCACTGCCAGCACCAGGCCC	0.637																																						ENST00000356495.4		NA																	0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1951-1953)Ctg>Ttg		polymeric immunoglobulin receptor							53.0	55.0	55.0					1																	207105858		2203	4300	6503	SO:0001819	synonymous_variant	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207105858G>A		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1951C>T	1.37:g.207105858G>A		False	False		Somatic	0					p.L651L	NM_002644.3	NP_002635.2	WXS	Illumina HiSeq	Phase_I	P01833	PIGR_HUMAN			8	2134	-			651					Q68D81|Q8IZY7	Silent	SNP	ENST00000356495.4	37	c.1951C>T	CCDS1474.1																																																																																				0.637	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	0	NM_002644		1:207105858
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2			hyaluronan binding protein 4											NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483																																						ENST00000375249.4		NA																	0				NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						c.(577-579)Cgc>Tgc		hyaluronan binding protein 4							101.0	114.0	109.0					9																	99227683		2203	4300	6503	SO:0001583	missense	22927				platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding	g.chr9:99227683C>T	AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956			17062	protein-coding gene	gene with protein product						9523163, 10887182	Standard	XM_005251812		Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.577C>T	9.37:g.99227683C>T	ENSP00000364398:p.Arg193Cys	False	False		Somatic	0				HABP4_ENST00000375251.3_Intron	p.R193C	NM_014282.2	NP_055097.2	WXS	Illumina HiSeq	Phase_I	Q5JVS0	HABP4_HUMAN			3	652	+		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)	193						Missense_Mutation	SNP	ENST00000375249.4	37	c.577C>T	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837388	0.50951	.	.	ENSG00000130956	ENST00000375249	T	0.37752	1.18	4.86	2.77	0.32553	.	0.269438	0.30538	N	0.009418	T	0.42381	0.1200	L	0.43923	1.385	0.49213	D	0.999769	D	0.71674	0.998	P	0.53185	0.72	T	0.40515	-0.9559	10	0.72032	D	0.01	-7.7391	14.0166	0.64527	0.4686:0.5314:0.0:0.0	.	193	Q5JVS0	HABP4_HUMAN	C	193	ENSP00000364398:R193C	ENSP00000364398:R193C	R	+	1	0	HABP4	98267504	1.000000	0.71417	0.350000	0.25708	0.389000	0.30415	1.202000	0.32271	0.558000	0.29135	0.644000	0.83932	CGC		0.483	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053269.1	0	NM_014282		9:99227683
H2AFZ	3015	broad.mit.edu	37	4	100870830	100870830	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr4:100870830G>A	ENST00000296417.5	-	2	288	c.71C>T	c.(70-72)gCc>gTc	p.A24V	DNAJB14_ENST00000442697.2_5'Flank|RP11-15B17.1_ENST00000501976.2_RNA|RP11-15B17.1_ENST00000514624.1_RNA|RP11-15B17.1_ENST00000507494.1_RNA|H2AFZ_ENST00000529158.1_5'UTR	NM_002106.3	NP_002097.1	P0C0S5	H2AZ_HUMAN	H2A histone family, member Z	24					cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular vesicular exosome (GO:0070062)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTGCAAGCCGGCTCTCTGCGA	0.567																																						ENST00000296417.5		NA																	0				breast(1)|endometrium(3)|lung(1)	5						c.(70-72)gCc>gTc		H2A histone family, member Z							80.0	89.0	86.0					4																	100870830		2203	4300	6503	SO:0001583	missense	3015				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr4:100870830G>A	X52317	CCDS3654.1	4q23	2011-01-27			ENSG00000164032	ENSG00000164032		"""Histones / Replication-independent"""	4741	protein-coding gene	gene with protein product		142763		H2AZ		1697587	Standard	XM_005262971		Approved	H2A.Z	uc003hvo.1	P0C0S5	OTTHUMG00000131048	ENST00000296417.5:c.71C>T	4.37:g.100870830G>A	ENSP00000296417:p.Ala24Val	True	False		Somatic	0				H2AFZ_ENST00000529158.1_5'UTR	p.A24V	NM_002106.3	NP_002097.1	WXS	Illumina HiSeq	Phase_I	P0C0S5	H2AZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)	2	288	-			24					B2RD56|P17317|Q6I9U0	Missense_Mutation	SNP	ENST00000296417.5	37	c.71C>T	CCDS3654.1	.	.	.	.	.	.	.	.	.	.	G	33	5.224399	0.95139	.	.	ENSG00000164032	ENST00000296417	D	0.87256	-2.23	3.33	3.33	0.38152	Histone-fold (2);Histone core (1);Histone H2A (3);	0.103484	0.64402	N	0.000003	D	0.96056	0.8715	H	0.99435	4.565	0.80722	D	1	D	0.69078	0.997	D	0.64144	0.922	D	0.97952	1.0332	10	0.87932	D	0	-4.0732	14.8277	0.70125	0.0:0.0:1.0:0.0	.	24	P0C0S5	H2AZ_HUMAN	V	24	ENSP00000296417:A24V	ENSP00000296417:A24V	A	-	2	0	H2AFZ	101089853	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.355000	0.90083	1.697000	0.51169	0.455000	0.32223	GCC		0.567	H2AFZ-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000253695.1	0	NM_002106		4:100870830
SASS6	163786	broad.mit.edu	37	1	100573235	100573235	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr1:100573235T>G	ENST00000287482.5	-	10	1235	c.1095A>C	c.(1093-1095)caA>caC	p.Q365H	SASS6_ENST00000535161.1_Missense_Mutation_p.Q198H|SASS6_ENST00000462159.1_5'UTR	NM_194292.1	NP_919268.1	Q6UVJ0	SAS6_HUMAN	spindle assembly 6 homolog (C. elegans)	365					centriole replication (GO:0007099)|centrosome duplication (GO:0051298)	centriole (GO:0005814)|centrosome (GO:0005813)|deuterosome (GO:0098536)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)		GCTTTCCTAGTTGTACTTGAT	0.249																																						ENST00000287482.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1093-1095)caA>caC		spindle assembly 6 homolog (C. elegans)							44.0	47.0	46.0					1																	100573235		2200	4288	6488	SO:0001583	missense	163786				centriole replication	centriole		g.chr1:100573235T>G	AL834265	CCDS764.1	1p21.3	2008-02-05			ENSG00000156876	ENSG00000156876			25403	protein-coding gene	gene with protein product		609321				15665853, 14654843	Standard	NM_194292		Approved	DKFZp761A078, SAS-6, FLJ22097, SAS6	uc001dsu.3	Q6UVJ0	OTTHUMG00000010754	ENST00000287482.5:c.1095A>C	1.37:g.100573235T>G	ENSP00000287482:p.Gln365His	False	False		Somatic	0				SASS6_ENST00000462159.1_5'UTR|SASS6_ENST00000535161.1_Missense_Mutation_p.Q198H	p.Q365H	NM_194292.1	NP_919268.1	WXS	Illumina HiSeq	Phase_I	Q6UVJ0	SAS6_HUMAN		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)	10	1235	-		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)	365					D3DT55|Q8N3K0	Missense_Mutation	SNP	ENST00000287482.5	37	c.1095A>C	CCDS764.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250271	0.39797	.	.	ENSG00000156876	ENST00000287482;ENST00000539329;ENST00000535161	T;T	0.78595	-1.19;-1.19	5.86	-2.04	0.07343	.	0.097898	0.64402	D	0.000001	T	0.51363	0.1670	L	0.49350	1.555	0.39686	D	0.970979	B	0.25272	0.122	B	0.26094	0.066	T	0.37267	-0.9713	10	0.34782	T	0.22	-17.8258	8.944	0.35747	0.1162:0.4925:0.0:0.3913	.	365	Q6UVJ0	SAS6_HUMAN	H	365;338;198	ENSP00000287482:Q365H;ENSP00000440169:Q198H	ENSP00000287482:Q365H	Q	-	3	2	SASS6	100345823	0.975000	0.34042	0.975000	0.42487	0.990000	0.78478	0.142000	0.16096	-0.327000	0.08551	0.477000	0.44152	CAA		0.249	SASS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029656.2	0	NM_194292		1:100573235
TYR	7299	broad.mit.edu	37	11	88911586	88911586	+	Silent	SNP	C	C	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:88911586C>A	ENST00000263321.5	+	1	967	c.465C>A	c.(463-465)acC>acA	p.T155T	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	155			T -> S (in OCA1A). {ECO:0000269|PubMed:15146472}.		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	CCATAGGGACCTATGGCCAAA	0.413																																						ENST00000263321.5		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(463-465)acC>acA		tyrosinase	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						157.0	149.0	151.0					11																	88911586		2201	4299	6500	SO:0001819	synonymous_variant	7299				eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911586C>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.465C>A	11.37:g.88911586C>A		False	False		Somatic	0				TYR_ENST00000526139.1_3'UTR	p.T155T	NM_000372.4	NP_000363.1	WXS	Illumina HiSeq	Phase_I	P14679	TYRO_HUMAN			1	967	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	155		T -> S (in OCA1A).			Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Silent	SNP	ENST00000263321.5	37	c.465C>A	CCDS8284.1																																																																																				0.413	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	0	NM_000372		11:88911586
TECTA	7007	broad.mit.edu	37	11	121016448	121016448	+	Missense_Mutation	SNP	G	G	A	rs376745254	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:121016448G>A	ENST00000392793.1	+	12	3999	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H			O75443	TECTA_HUMAN	tectorin alpha	1243	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R1243H(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTGTGTGGCCGCTACAACGGC	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		22520	0.0		0.0	False		,,,				2504	0.002					ENST00000392793.1		NA																TECTA/TBCEL(2)	1	Substitution - Missense(1)	p.R1243H(1)	lung(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(3727-3729)cGc>cAc		tectorin alpha		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	151.0	122.0	132.0		3728	4.8	1.0	11		132	0,8598		0,0,4299	no	missense	TECTA	NM_005422.2	29	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1243/2156	121016448	1,13003	2203	4299	6502	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121016448G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.3728G>A	11.37:g.121016448G>A	ENSP00000376543:p.Arg1243His	False	False		Somatic	0				TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.R1243H	p.R1243H			WXS	Illumina HiSeq	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	12	3999	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1243			VWFD 3.			Missense_Mutation	SNP	ENST00000392793.1	37	c.3728G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.782117	0.70222	2.27E-4	0.0	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59772	0.24;0.24	5.76	4.85	0.62838	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000005	T	0.55016	0.1894	L	0.36672	1.1	0.33742	D	0.619606	D	0.56287	0.975	P	0.50270	0.636	T	0.67632	-0.5621	10	0.59425	D	0.04	.	11.5134	0.50507	0.137:0.0:0.863:0.0	.	1243	O75443	TECTA_HUMAN	H	1243	ENSP00000376543:R1243H;ENSP00000264037:R1243H	ENSP00000264037:R1243H	R	+	2	0	TECTA	120521658	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.363000	0.44178	2.721000	0.93114	0.591000	0.81541	CGC		0.532	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	0	NM_005422		11:121016448
KIAA0226L	80183	broad.mit.edu	37	13	46946277	46946277	+	Missense_Mutation	SNP	C	C	T	rs539575830		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr13:46946277C>T	ENST00000429979.1	-	3	938	c.334G>A	c.(334-336)Gtt>Att	p.V112I	KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.V112I|RNU2-6P_ENST00000411404.1_RNA|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.V45I|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000480935.1_5'UTR	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	112	Ser-rich.									NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GCGCTGCCAACGGAGTCTGTG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		21621	0.0		0.0	False		,,,				2504	0.001					ENST00000429979.1		NA																	0				NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						c.(334-336)Gtt>Att		KIAA0226-like							90.0	87.0	88.0					13																	46946277		2203	4300	6503	SO:0001583	missense	80183							g.chr13:46946277C>T	AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.334G>A	13.37:g.46946277C>T	ENSP00000396935:p.Val112Ile	False	False		Somatic	0				KIAA0226L_ENST00000389908.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000322896.6_Intron|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.V112I|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.V45I|KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.V112I|KIAA0226L_ENST00000409879.2_Intron	p.V112I	NM_025113.2	NP_079389.2	WXS	Illumina HiSeq	Phase_I	Q9H714	CM018_HUMAN			3	938	-			112			Ser-rich.		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	ENST00000429979.1	37	c.334G>A	CCDS31970.2	.	.	.	.	.	.	.	.	.	.	C	6.866	0.529169	0.13127	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000439642	T;T;T;T;T;T;T	0.44482	0.93;0.95;0.93;0.95;0.95;0.93;0.92	5.04	-10.1	0.00402	.	2.645840	0.00956	N	0.003022	T	0.12178	0.0296	N	0.02011	-0.69	0.09310	N	1	B;B;B;B;B	0.16396	0.0;0.0;0.0;0.0;0.017	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.0;0.001	T	0.16928	-1.0386	10	0.05620	T	0.96	2.5859	6.7654	0.23564	0.1041:0.5403:0.2256:0.13	.	112;112;112;45;112	E7EMA2;Q9H714-1;Q9H714;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.	I	112;112;112;45;112;112;112	ENSP00000368057:V112I;ENSP00000396935:V112I;ENSP00000368074:V112I;ENSP00000368061:V45I;ENSP00000374558:V112I;ENSP00000368064:V112I;ENSP00000414579:V112I	ENSP00000368057:V112I	V	-	1	0	KIAA0226L	45844278	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.930000	0.01557	-2.358000	0.00611	-1.306000	0.01317	GTT		0.567	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044809.2	0	NM_025113		13:46946277
USP2	9099	broad.mit.edu	37	11	119243920	119243920	+	Missense_Mutation	SNP	G	G	A	rs536224379|rs146943763	byFrequency	TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr11:119243920G>A	ENST00000260187.2	-	2	565	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	91	Necessary for interaction with MDM4.				cell cycle (GO:0007049)|muscle organ development (GO:0007517)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue development (GO:0048643)|protein deubiquitination (GO:0016579)|protein stabilization (GO:0050821)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell cortex (GO:0005938)|centrosome (GO:0005813)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cyclin binding (GO:0030332)|cysteine-type endopeptidase activity (GO:0004197)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CTCTCTGCCCGCTTACCACCC	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		16208	0.002		0.0	False		,,,				2504	0.0					ENST00000260187.2		NA																	0				breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24						c.(271-273)Cgg>Tgg		ubiquitin specific peptidase 2							63.0	71.0	69.0					11																	119243920		2199	4295	6494	SO:0001583	missense	9099				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	g.chr11:119243920G>A	AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672		"""Ubiquitin-specific peptidases"""	12618	protein-coding gene	gene with protein product		604725	"""ubiquitin specific protease 2"""			12838346	Standard	NM_004205		Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.271C>T	11.37:g.119243920G>A	ENSP00000260187:p.Arg91Trp	True	False		Somatic	0				RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	p.R91W	NM_004205.4	NP_004196.4	WXS	Illumina HiSeq	Phase_I	O75604	UBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)	2	565	-		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)	91			Necessary for interaction with MDM4.		B0YJB8|E9PPM2|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	Missense_Mutation	SNP	ENST00000260187.2	37	c.271C>T	CCDS8422.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	10.95	1.495124	0.26774	.	.	ENSG00000036672	ENST00000260187;ENST00000530918;ENST00000531070;ENST00000527843	T	0.24538	1.85	5.37	3.3	0.37823	.	2.634020	0.01228	N	0.008277	T	0.23572	0.0570	L	0.27053	0.805	0.39645	D	0.970387	B	0.02656	0.0	B	0.01281	0.0	T	0.12604	-1.0541	10	0.56958	D	0.05	-5.9847	9.6628	0.39965	0.0813:0.0:0.7696:0.1491	.	91	O75604	UBP2_HUMAN	W	91;61;91;91	ENSP00000260187:R91W	ENSP00000260187:R91W	R	-	1	2	USP2	118749130	0.941000	0.31946	0.996000	0.52242	0.734000	0.41952	2.168000	0.42424	1.262000	0.44165	-0.254000	0.11334	CGG		0.652	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388361.2	0	NM_171997		11:119243920
FFAR3	2865	broad.mit.edu	37	19	35850345	35850345	+	Missense_Mutation	SNP	C	C	T	rs150489647		TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:35850345C>T	ENST00000327809.4	+	2	754	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	FFAR3_ENST00000594310.1_Missense_Mutation_p.R185W	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	185					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CCTGCCCGTGCGGCTGGAGAT	0.622																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4		NA																	0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(553-555)Cgg>Tgg		free fatty acid receptor 3							36.0	30.0	32.0					19																	35850345		2201	4298	6499	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850345C>T	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.553C>T	19.37:g.35850345C>T	ENSP00000328230:p.Arg185Trp	False	False		Somatic	0				FFAR3_ENST00000594310.1_Missense_Mutation_p.R185W	p.R185W	NM_005304.3	NP_005295.1	WXS	Illumina HiSeq	Phase_I	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	754	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		185					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.553C>T	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	C	13.50	2.255435	0.39896	.	.	ENSG00000185897	ENST00000327809	T	0.37752	1.18	5.13	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.59932	0.2230	M	0.82517	2.595	0.38954	D	0.958414	D	0.89917	1.0	D	0.97110	1.0	T	0.65516	-0.6149	10	0.38643	T	0.18	-24.346	13.0743	0.59079	0.316:0.684:0.0:0.0	.	185	O14843	FFAR3_HUMAN	W	185	ENSP00000328230:R185W	ENSP00000328230:R185W	R	+	1	2	FFAR3	40542185	0.985000	0.35326	0.625000	0.29200	0.069000	0.16628	3.235000	0.51328	1.110000	0.41699	0.455000	0.32223	CGG		0.622	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	0	NM_005304		19:35850345
PSG6	5675	broad.mit.edu	37	19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A5ST-01A-11D-A32N-08	TCGA-IB-A5ST-10A-01D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b266696a-1d45-466a-b065-83f20b4cdc07	726db08f-fb65-418f-9709-8628f97515b5	g.chr19:43411250G>A	ENST00000292125.2	-	5	1108	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000187910.2_Missense_Mutation_p.A355V	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	355	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448																																						ENST00000187910.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(1063-1065)gCg>gTg		pregnancy specific beta-1-glycoprotein 6							185.0	196.0	192.0					19																	43411250		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411250G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1064C>T	19.37:g.43411250G>A	ENSP00000292125:p.Ala355Val	False	False		Somatic	0				PSG6_ENST00000292125.2_Missense_Mutation_p.A355V|PSG6_ENST00000402603.4_Missense_Mutation_p.A262V	p.A355V	NM_001031850.3	NP_001027020.1	WXS	Illumina HiSeq	Phase_I					5	1129	-		Prostate(69;0.00899)	NA					O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.1064C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	9.184	1.024244	0.19433	.	.	ENSG00000170848	ENST00000187910;ENST00000402603;ENST00000292125	T;T;T	0.14144	2.53;2.53;2.53	1.54	1.54	0.23209	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13500	0.0327	L	0.50847	1.595	0.09310	N	0.999998	B;B;B	0.34372	0.132;0.292;0.451	B;B;B	0.36244	0.184;0.22;0.185	T	0.20840	-1.0263	9	0.59425	D	0.04	.	6.5495	0.22425	0.0:0.0:1.0:0.0	.	355;355;262	Q00889;Q00889-2;B5MCE1	PSG6_HUMAN;.;.	V	355;262;355	ENSP00000187910:A355V;ENSP00000385736:A262V;ENSP00000292125:A355V	ENSP00000187910:A355V	A	-	2	0	PSG6	48103090	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.729000	0.26028	0.854000	0.35336	0.134000	0.15878	GCG		0.448	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	0	NM_002782		19:43411250
