#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ATR	545	broad.mit.edu	37	3	142268455	142268455	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:142268455G>C	ENST00000350721.4	-	15	3158	c.3037C>G	c.(3037-3039)Ctc>Gtc	p.L1013V	ATR_ENST00000383101.3_Missense_Mutation_p.L949V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1013					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTTCGAATGAGAGCAGAAGCT	0.343								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(3037-3039)Ctc>Gtc	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							52.0	54.0	53.0					3																	142268455		2202	4298	6500	SO:0001583	missense	545				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142268455G>C	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.3037C>G	3.37:g.142268455G>C	ENSP00000343741:p.Leu1013Val		Somatic					p.L1013V	NM_001184	NP_001175	WXS	Illumina GAIIx	Phase_I	Q13535	ATR_HUMAN			14	3159	-			1013					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.3037C>G	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689341	0.48097	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.64085	-0.08;-0.08	5.59	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.139502	0.49305	D	0.000142	T	0.47911	0.1471	N	0.24115	0.695	0.53005	D	0.999962	B	0.19817	0.039	B	0.17433	0.018	T	0.36311	-0.9753	10	0.30854	T	0.27	-5.0346	13.659	0.62354	0.0:0.0:0.8328:0.1672	.	1013	Q13535	ATR_HUMAN	V	1013;949	ENSP00000343741:L1013V;ENSP00000372581:L949V	ENSP00000343741:L1013V	L	-	1	0	ATR	143751145	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.173000	0.71937	1.294000	0.44707	0.655000	0.94253	CTC		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		27	50	0	0	0	1	0	27	50				
CCKBR	887	broad.mit.edu	37	11	6292023	6292023	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:6292023C>T	ENST00000334619.2	+	4	994	c.801C>T	c.(799-801)ggC>ggT	p.G267G	CCKBR_ENST00000532715.1_Silent_p.G183G|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000525462.1_Silent_p.G267G	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	267					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAAACCAAGGCGGGCTGCCAG	0.632																																						uc001mcs.3																			0		p.G267V(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(799-801)ggC>ggT		Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	Pentagastrin(DB00183)						48.0	46.0	46.0					11																	6292023		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292023C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.801C>T	11.37:g.6292023C>T			Somatic				CCKBR_uc001mcp.3_Silent_p.G267G|CCKBR_uc001mcq.3_Silent_p.G195G|CCKBR_uc001mcr.3_Silent_p.G267G|CCKBR_uc001mct.1_Non-coding_Transcript	p.G267G	NM_176875	NP_795344	WXS	Illumina GAIIx	Phase_I	P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	3	1056	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	218					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.801C>T	CCDS7761.1																																																																																				0.632	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		5	73	0	0	0	1	0	5	73				
EXOC3L2	90332	broad.mit.edu	37	19	45716591	45716591	+	Silent	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45716591G>A	ENST00000252482.3	-	9	993	c.966C>T	c.(964-966)ctC>ctT	p.L322L	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000413988.1_Silent_p.L322L			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	322					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CACGGATGTCGAGGAGGGCTG	0.672																																						uc002pay.1																			0				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(964-966)ctC>ctT		Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.							37.0	40.0	39.0					19																	45716591		2203	4300	6503	SO:0001819	synonymous_variant	90332							g.chr19:45716591G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.966C>T	19.37:g.45716591G>A			Somatic					p.L322L	NM_138568	NP_612635	WXS	Illumina GAIIx	Phase_I	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	9	1007	-		all_neural(266;0.224)|Ovarian(192;0.231)	322					Q8N9W2|Q96GV2	Silent	SNP	ENST00000252482.3	37	c.966C>T	CCDS12657.1																																																																																				0.672	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568		44	89	0	0	0	1	0	44	89				
CXorf22	170063	broad.mit.edu	37	X	35989984	35989984	+	Splice_Site	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:35989984A>T	ENST00000297866.5	+	13	2223		c.e13-1			NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22											breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GATTTTTTACAGGTTCTCAAA	0.323																																						uc004ddj.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						c.e13-2		Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.							25.0	22.0	23.0					X																	35989984		2202	4299	6501	SO:0001630	splice_region_variant	170063							g.chrX:35989984A>T	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2158-1A>T	X.37:g.35989984A>T			Somatic				CXorf22_uc010ngv.3_Splice_Site	p.V720_splice	NM_152632	NP_689845	WXS	Illumina GAIIx	Phase_I	Q6ZTR5	CX022_HUMAN			13	2224	+			720					Q5JRM8|Q8N6X8	Splice_Site	SNP	ENST00000297866.5	37	c.2158_splice	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	8.748	0.920564	0.17982	.	.	ENSG00000165164	ENST00000297866	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9811	0.47494	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CXorf22	35899905	0.999000	0.42202	0.219000	0.23793	0.062000	0.15995	5.293000	0.65680	1.864000	0.54056	0.486000	0.48141	.		0.323	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	Intron	13	1	0	0	0	1	0	13	1				
MAGEC3	139081	broad.mit.edu	37	X	140969464	140969464	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chrX:140969464T>A	ENST00000298296.1	+	4	791	c.791T>A	c.(790-792)cTg>cAg	p.L264Q	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	264	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGGGAGTCTGAGTGATGAG	0.478																																						uc011mwp.2																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(790-792)cTg>cAg		Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.							139.0	128.0	132.0					X																	140969464		2202	4300	6502	SO:0001583	missense	139081							g.chrX:140969464T>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.791T>A	X.37:g.140969464T>A	ENSP00000298296:p.Leu264Gln		Somatic					p.L264Q	NM_138702	NP_619647	WXS	Illumina GAIIx	Phase_I	Q8TD91	MAGC3_HUMAN			3	791	+	Acute lymphoblastic leukemia(192;6.56e-05)		264			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.791T>A	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466113	0.26335	.	.	ENSG00000165509	ENST00000298296	T	0.06068	3.35	2.26	0.984	0.19773	.	.	.	.	.	T	0.15305	0.0369	M	0.64080	1.96	0.09310	N	1	D	0.76494	0.999	D	0.64410	0.925	T	0.12344	-1.0551	9	0.87932	D	0	.	3.9105	0.09201	0.3286:0.0:0.0:0.6713	.	264	Q8TD91	MAGC3_HUMAN	Q	264	ENSP00000298296:L264Q	ENSP00000298296:L264Q	L	+	2	0	MAGEC3	140797130	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.412000	0.21131	0.176000	0.19873	0.426000	0.28351	CTG		0.478	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		5	199	0	0	0	1	0	5	199				
CEACAM20	125931	broad.mit.edu	37	19	45028102	45028102	+	RNA	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr19:45028102C>T	ENST00000454753.1	-	0	667							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TGAGTCCTCCCGCTGGACAAT	0.527																																						uc010ejn.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15						c.(388-390)cGg>cAg		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.							68.0	68.0	68.0					19																	45028102		2079	4228	6307			125931					integral to membrane		g.chr19:45028102C>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45028102C>T			Somatic				CEACAM20_uc010ejo.1_Missense_Mutation_p.R130Q|CEACAM20_uc010ejp.1_Missense_Mutation_p.R130Q|CEACAM20_uc010ejq.1_Missense_Mutation_p.R130Q	p.R130Q	NM_001102597	NP_001096067	WXS	Illumina GAIIx	Phase_I	Q6UY09	CEA20_HUMAN			2	405	-		Prostate(69;0.0352)	130			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000454753.1	37	c.389G>A																																																																																					0.527	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		3	6	0	0	0	1	0	3	6				
ZNF624	57547	broad.mit.edu	37	17	16525630	16525630	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr17:16525630A>T	ENST00000311331.7	-	6	2661	c.2570T>A	c.(2569-2571)aTa>aAa	p.I857K		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	857					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCTTTGATGTATTCTTTGATG	0.328																																					NSCLC(186;1023 2134 13330 38202 39800)	uc010cpi.2																			0				breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26						c.(2569-2571)aTa>aAa		Homo sapiens zinc finger protein 624 (ZNF624), mRNA.							117.0	120.0	119.0					17																	16525630		2203	4300	6503	SO:0001583	missense	57547				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:16525630A>T	AB037770	CCDS11180.1	17p11.2	2013-01-08			ENSG00000197566	ENSG00000197566		"""Zinc fingers, C2H2-type"", ""-"""	29254	protein-coding gene	gene with protein product						10718198	Standard	NM_020787		Approved	KIAA1349	uc010cpi.2	Q9P2J8	OTTHUMG00000058996	ENST00000311331.7:c.2570T>A	17.37:g.16525630A>T	ENSP00000310472:p.Ile857Lys		Somatic				ZNF624_uc021tre.1_Missense_Mutation_p.I731K	p.I857K	NM_020787	NP_065838	WXS	Illumina GAIIx	Phase_I	Q9P2J8	ZN624_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	5	2662	-			857					Q3SY62|Q3SY63|Q6ZN27	Missense_Mutation	SNP	ENST00000311331.7	37	c.2570T>A	CCDS11180.1	.	.	.	.	.	.	.	.	.	.	A	7.388	0.630208	0.14257	.	.	ENSG00000197566	ENST00000311331	T	0.09073	3.02	3.21	0.972	0.19704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	L	0.58510	1.815	0.34717	D	0.728311	B	0.23058	0.079	B	0.21546	0.035	T	0.07252	-1.0782	9	0.62326	D	0.03	.	6.4242	0.21760	0.774:0.0:0.226:0.0	.	857	Q9P2J8	ZN624_HUMAN	K	857	ENSP00000310472:I857K	ENSP00000310472:I857K	I	-	2	0	ZNF624	16466355	0.000000	0.05858	0.969000	0.41365	0.697000	0.40408	0.233000	0.17911	0.162000	0.19483	0.460000	0.39030	ATA		0.328	ZNF624-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130512.3	XM_047617		89	114	0	0	0	1	0	89	114				
NDFIP2	54602	broad.mit.edu	37	13	80107511	80107511	+	Missense_Mutation	SNP	A	A	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr13:80107511A>T	ENST00000218652.7	+	3	593	c.541A>T	c.(541-543)Acc>Tcc	p.T181S		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	181					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		TAGCGTTGCTACCTCTCTTCC	0.383																																						uc001vlf.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14						c.(541-543)Acc>Tcc		Homo sapiens Nedd4 family interacting protein 2 (NDFIP2), transcript variant 1, mRNA.							72.0	68.0	69.0					13																	80107511		2203	4300	6503	SO:0001583	missense	54602				negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endoplasmic reticulum|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	WW domain binding|signal transducer activity	g.chr13:80107511A>T	AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.541A>T	13.37:g.80107511A>T	ENSP00000218652:p.Thr181Ser		Somatic				NDFIP2_uc010tib.2_Missense_Mutation_p.T181S|NDFIP2_uc001vlg.3_Non-coding_Transcript	p.T181S	NM_019080	NP_061953	WXS	Illumina GAIIx	Phase_I	Q9NV92	NFIP2_HUMAN		GBM - Glioblastoma multiforme(99;0.0196)	2	621	+		Acute lymphoblastic leukemia(28;0.205)	181					Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Missense_Mutation	SNP	ENST00000218652.7	37	c.541A>T	CCDS31998.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.924241	0.92319	.	.	ENSG00000102471	ENST00000218652;ENST00000487865	T;T	0.39406	1.25;1.08	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	M	0.72894	2.215	0.58432	D	0.999999	P;P	0.52692	0.955;0.923	P;P	0.54544	0.755;0.755	T	0.57871	-0.7736	10	0.42905	T	0.14	-11.0901	14.5939	0.68392	1.0:0.0:0.0:0.0	.	87;181	B4DGY6;Q9NV92	.;NFIP2_HUMAN	S	181;98	ENSP00000218652:T181S;ENSP00000419200:T98S	ENSP00000218652:T181S	T	+	1	0	NDFIP2	79005512	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.334000	0.90028	2.101000	0.63845	0.477000	0.44152	ACC		0.383	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			35	58	0	0	0	1	0	35	58				
ITPR2	3709	broad.mit.edu	37	12	26784809	26784809	+	Missense_Mutation	SNP	T	T	A	rs187811112	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:26784809T>A	ENST00000381340.3	-	22	3340	c.2924A>T	c.(2923-2925)gAg>gTg	p.E975V	RP11-666F17.1_ENST00000414098.2_RNA|ITPR2_ENST00000545902.1_5'Flank	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	975					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CTGCAAAATCTCAATGATCTT	0.473																																						uc001rhg.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2923-2925)gAg>gTg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							103.0	109.0	107.0					12																	26784809		2059	4193	6252	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26784809T>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2924A>T	12.37:g.26784809T>A	ENSP00000370744:p.Glu975Val		Somatic					p.E975V	NM_002223	NP_002214	WXS	Illumina GAIIx	Phase_I	Q14571	ITPR2_HUMAN			21	3341	-	Colorectal(261;0.0847)		975					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.2924A>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.762721	0.89932	.	.	ENSG00000123104	ENST00000381340	D	0.95447	-3.71	5.07	5.07	0.68467	.	0.098343	0.64402	D	0.000002	D	0.96830	0.8965	M	0.87180	2.865	0.80722	D	1	P	0.44521	0.837	P	0.49999	0.628	D	0.97216	0.9874	10	0.56958	D	0.05	.	14.9902	0.71381	0.0:0.0:0.0:1.0	.	975	Q14571	ITPR2_HUMAN	V	975	ENSP00000370744:E975V	ENSP00000370744:E975V	E	-	2	0	ITPR2	26676076	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.314000	0.78988	2.139000	0.66308	0.533000	0.62120	GAG		0.473	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		6	150	0	0	0	1	0	6	150				
ESPL1	9700	broad.mit.edu	37	12	53670431	53670431	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:53670431G>T	ENST00000257934.4	+	8	1819	c.1728G>T	c.(1726-1728)tgG>tgT	p.W576C	ESPL1_ENST00000552462.1_Missense_Mutation_p.W576C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	576					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCAGTGGCTGGGACCCGGAGA	0.632																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(1726-1728)tgG>tgT		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							18.0	18.0	18.0					12																	53670431		2198	4287	6485	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53670431G>T	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1728G>T	12.37:g.53670431G>T	ENSP00000257934:p.Trp576Cys		Somatic				ESPL1_uc001scj.2_Missense_Mutation_p.W251C	p.W576C	NM_012291	NP_036423	WXS	Illumina GAIIx	Phase_I	Q14674	ESPL1_HUMAN			7	1819	+			576						Missense_Mutation	SNP	ENST00000257934.4	37	c.1728G>T	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705563	0.48412	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.12465	2.68;2.68	5.39	5.39	0.77823	.	0.244102	0.40385	N	0.001108	T	0.30262	0.0759	M	0.68317	2.08	0.45477	D	0.998448	D	0.76494	0.999	P	0.58820	0.846	T	0.00277	-1.1854	10	0.39692	T	0.17	.	14.2893	0.66265	0.0:0.1498:0.8502:0.0	.	576	Q14674	ESPL1_HUMAN	C	576;251;576	ENSP00000257934:W576C;ENSP00000449831:W576C	ENSP00000257934:W576C	W	+	3	0	ESPL1	51956698	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	1.466000	0.35310	2.808000	0.96608	0.655000	0.94253	TGG		0.632	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		17	29	0	0	0	1	0	17	29				
SP4	6671	broad.mit.edu	37	7	21469309	21469309	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:21469309G>C	ENST00000222584.3	+	3	744	c.526G>C	c.(526-528)Ggt>Cgt	p.G176R		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	176					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GACAGTGGAAGGTCAACAAAT	0.388																																						uc003sva.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						c.(526-528)Ggt>Cgt		Homo sapiens Sp4 transcription factor (SP4), mRNA.							77.0	74.0	75.0					7																	21469309		2203	4300	6503	SO:0001583	missense	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469309G>C		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.526G>C	7.37:g.21469309G>C	ENSP00000222584:p.Gly176Arg		Somatic				SP4_uc003svb.3_5'UTR	p.G176R	NM_003112	NP_003103	WXS	Illumina GAIIx	Phase_I	Q02446	SP4_HUMAN			2	707	+			176					O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	c.526G>C	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324825	0.60634	.	.	ENSG00000105866	ENST00000222584	T	0.28069	1.63	4.25	4.25	0.50352	.	0.000000	0.85682	D	0.000000	T	0.57417	0.2052	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63853	-0.6543	10	0.59425	D	0.04	.	16.8705	0.86039	0.0:0.0:1.0:0.0	.	176	Q02446	SP4_HUMAN	R	176	ENSP00000222584:G176R	ENSP00000222584:G176R	G	+	1	0	SP4	21435834	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.243000	0.72384	2.197000	0.70478	0.655000	0.94253	GGT		0.388	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		6	110	0	0	0	1	0	6	110				
RABGEF1	27342	broad.mit.edu	37	7	66262494	66262494	+	Splice_Site	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:66262494G>A	ENST00000284957.5	+	6	805		c.e6+1		KCTD7_ENST00000510829.2_Splice_Site|RABGEF1_ENST00000437078.2_Splice_Site|RABGEF1_ENST00000439720.2_Splice_Site|RABGEF1_ENST00000450873.2_Splice_Site|KCTD7_ENST00000380828.2_Splice_Site|RABGEF1_ENST00000484547.2_Splice_Site|KCTD7_ENST00000451741.2_Splice_Site			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAGAATCAGGTAGTTGCTTA	0.363																																						uc011kee.2																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						c.e6+1		Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.							59.0	56.0	57.0					7																	66262494		2203	4300	6503	SO:0001630	splice_region_variant	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66262494G>A	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.728+1G>A	7.37:g.66262494G>A			Somatic				RABGEF1_uc003tvf.3_Splice_Site_p.R116_splice|RABGEF1_uc003tvg.3_Splice_Site_p.R51_splice|RABGEF1_uc003tvh.3_Splice_Site_p.R243_splice|RABGEF1_uc010lag.3_Splice_Site_p.R243_splice|RABGEF1_uc003tvi.3_Splice_Site_p.R77_splice	p.R257_splice	NM_014504	NP_055319	WXS	Illumina GAIIx	Phase_I	Q9UJ41	RABX5_HUMAN			6	934	+			460					B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Splice_Site	SNP	ENST00000284957.5	37	c.770_splice	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013187	0.75161	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7712	0.88493	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RABGEF1;KCTD7	65899929	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	9.386000	0.97228	2.494000	0.84150	0.551000	0.68910	.		0.363	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	Intron	4	85	0	0	0	1	0	4	85				
KSR2	283455	broad.mit.edu	37	12	117922266	117922266	+	Missense_Mutation	SNP	G	G	A	rs563602140		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr12:117922266G>A	ENST00000339824.5	-	16	3132	c.2405C>T	c.(2404-2406)aCg>aTg	p.T802M	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.T773M			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	802	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.T834M(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAAGTCCGTGATGACCAC	0.542													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19917	0.0		0.0	False		,,,				2504	0.0					uc001two.2																			1	Substitution - Missense(1)	p.T834M(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2317-2319)aCg>aTg		Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.							96.0	99.0	98.0					12																	117922266		2020	4190	6210	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117922266G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2405C>T	12.37:g.117922266G>A	ENSP00000339952:p.Thr802Met		Somatic					p.T773M	NM_173598	NP_775869	WXS	Illumina GAIIx	Phase_I	Q6VAB6	KSR2_HUMAN			15	2373	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		802			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2318C>T		.	.	.	.	.	.	.	.	.	.	G	29.4	5.000619	0.93227	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.83419	-1.72;-1.72	5.55	5.55	0.83447	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91314	0.7261	M	0.76727	2.345	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91727	0.5393	10	0.72032	D	0.01	.	19.5084	0.95130	0.0:0.0:1.0:0.0	.	802	Q6VAB6	KSR2_HUMAN	M	773;802	ENSP00000389715:T773M;ENSP00000339952:T802M	ENSP00000339952:T802M	T	-	2	0	KSR2	116406649	1.000000	0.71417	0.965000	0.40720	0.948000	0.59901	9.837000	0.99465	2.612000	0.88384	0.655000	0.94253	ACG		0.542	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	60	0	0	0	1	0	7	60				
BRWD1	54014	broad.mit.edu	37	21	40668280	40668280	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr21:40668280T>C	ENST00000333229.2	-	6	686	c.359A>G	c.(358-360)cAc>cGc	p.H120R	BRWD1_ENST00000342449.3_Missense_Mutation_p.H120R|BRWD1_ENST00000380800.3_Missense_Mutation_p.H120R|BRWD1_ENST00000470108.1_5'Flank	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	120					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCAAACTGTGTGCCTGCAGTC	0.368																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.2																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(358-360)cAc>cGc		Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.							89.0	91.0	91.0					21																	40668280		2203	4300	6503	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40668280T>C	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.359A>G	21.37:g.40668280T>C	ENSP00000330753:p.His120Arg		Somatic				BRWD1_uc021wjf.1_Missense_Mutation_p.H120R	p.H120R	NM_018963	NP_061836	WXS	Illumina GAIIx	Phase_I	Q9NSI6	BRWD1_HUMAN			5	654	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	120					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.359A>G	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	12.28	1.891130	0.33348	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.16457	2.34;2.34;2.34	5.94	5.94	0.96194	.	0.133086	0.50627	D	0.000111	T	0.14657	0.0354	L	0.27053	0.805	0.80722	D	1	P;B	0.39862	0.692;0.031	B;B	0.39339	0.297;0.006	T	0.09487	-1.0672	10	0.21540	T	0.41	-7.5662	16.4075	0.83691	0.0:0.0:0.0:1.0	.	120;120	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	R	120	ENSP00000330753:H120R;ENSP00000344333:H120R;ENSP00000370178:H120R	ENSP00000330753:H120R	H	-	2	0	BRWD1	39590150	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.983000	0.49345	2.275000	0.75901	0.528000	0.53228	CAC		0.368	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		83	88	0	0	0	1	0	83	88				
AGO1	26523	broad.mit.edu	37	1	36381032	36381032	+	Silent	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:36381032C>T	ENST00000373204.4	+	15	2130	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	AGO1_ENST00000373206.1_Silent_p.D564D	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	639	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										TCATTGAAGACTTGTCCTACA	0.547																																						uc001bzl.3																			0				biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36						c.(1915-1917)gaC>gaT		Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.							187.0	149.0	162.0					1																	36381032		2203	4300	6503	SO:0001819	synonymous_variant	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding	g.chr1:36381032C>T	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1917C>T	1.37:g.36381032C>T			Somatic				EIF2C1_uc001bzk.3_Silent_p.D564D|EIF2C1_uc009vuy.3_Non-coding_Transcript	p.D639D	NM_012199	NP_036331	WXS	Illumina GAIIx	Phase_I	Q9UL18	AGO1_HUMAN			14	2130	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	639			Piwi.		Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.1917C>T	CCDS398.1																																																																																				0.547	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3			20	142	0	0	0	1	0	20	142				
FADS1	3992	broad.mit.edu	37	11	61570928	61570928	+	Silent	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr11:61570928G>A	ENST00000350997.7	-	9	1387	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	FADS1_ENST00000433932.1_Silent_p.F244F|FADS2_ENST00000574708.1_Intron|FADS1_ENST00000460649.1_Silent_p.F30F|FADS1_ENST00000542506.1_Silent_p.F244F|FADS1_ENST00000536991.1_Silent_p.F76F	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	328					alpha-linolenic acid metabolic process (GO:0036109)|cell-cell signaling (GO:0007267)|cellular lipid metabolic process (GO:0044255)|cellular response to starvation (GO:0009267)|icosanoid biosynthetic process (GO:0046456)|linoleic acid metabolic process (GO:0043651)|phospholipid biosynthetic process (GO:0008654)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	C-5 sterol desaturase activity (GO:0000248)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TGCTTTCCAGGAACCTGTTAG	0.478																																						uc010rlm.2																			0				central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(1153-1155)ttC>ttT		Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						185.0	182.0	183.0					11																	61570928		1963	4191	6154	SO:0001819	synonymous_variant	3992				cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding	g.chr11:61570928G>A		CCDS8011.2	11q12-q13.1	2013-01-25			ENSG00000149485	ENSG00000149485	1.14.19.3	"""Fatty acid desaturases"""	3574	protein-coding gene	gene with protein product	"""delta-5 desaturase"""	606148		LLCDL1			Standard	NM_013402		Approved	D5D, FADSD5, TU12, FADS6	uc010rlm.2	O60427	OTTHUMG00000157155	ENST00000350997.7:c.1155C>T	11.37:g.61570928G>A			Somatic				FADS1_uc001nsh.3_Silent_p.F244F	p.F385F	NM_013402	NP_037534	WXS	Illumina GAIIx	Phase_I	O60427	FADS1_HUMAN			8	1283	-			328					A8K0I7|B2RAI0|Q53GM5|Q8N3A6|Q8NCC7|Q8NCG0|Q96I39|Q96SV3|Q96T10|Q9NRP8|Q9NYX1	Silent	SNP	ENST00000350997.7	37	c.1155C>T	CCDS8011.2																																																																																				0.478	FADS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347648.2	NM_013402		10	316	0	0	0	1	0	10	316				
MEGF6	1953	broad.mit.edu	37	1	3427403	3427403	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr1:3427403T>C	ENST00000356575.4	-	10	1404	c.1178A>G	c.(1177-1179)tAc>tGc	p.Y393C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y288C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	393	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCGCACTCGTACCCGCCAGG	0.687																																					Ovarian(73;978 3658)	uc001akl.3																			0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1177-1179)tAc>tGc		Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.							44.0	55.0	51.0					1																	3427403		2154	4245	6399	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3427403T>C	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.1178A>G	1.37:g.3427403T>C	ENSP00000348982:p.Tyr393Cys		Somatic				MEGF6_uc001akk.3_Missense_Mutation_p.Y288C	p.Y393C	NM_001409	NP_001400	WXS	Illumina GAIIx	Phase_I	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	9	1405	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	393			EGF-like 7.		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.1178A>G	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	T	19.95	3.920882	0.73213	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.88664	-2.41;-2.41	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.96018	0.8703	H	0.96547	3.84	0.50313	D	0.999864	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96812	0.9597	10	0.59425	D	0.04	-45.6001	13.478	0.61320	0.0:0.0:0.0:1.0	.	393;288	O75095;O75095-2	MEGF6_HUMAN;.	C	288;393	ENSP00000294599:Y288C;ENSP00000348982:Y393C	ENSP00000294599:Y288C	Y	-	2	0	MEGF6	3417263	1.000000	0.71417	0.985000	0.45067	0.988000	0.76386	4.080000	0.57620	1.655000	0.50712	0.379000	0.24179	TAC		0.687	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		58	79	0	0	0	1	0	58	79				
MSLNL	401827	broad.mit.edu	37	16	824957	824957	+	Missense_Mutation	SNP	C	C	T	rs369732940		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr16:824957C>T	ENST00000442466.1	-	6	561	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	MSLNL_ENST00000293892.3_Missense_Mutation_p.A539T			Q96KJ4	MSLNL_HUMAN	mesothelin-like	188					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						ATGCTGGACGCGTCCATGTCA	0.716																																						uc002cjz.1																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(1615-1617)Gcg>Acg		Homo sapiens mesothelin-like (MSLNL), mRNA.			THR/ALA	0,4124		0,0,2062	21.0	24.0	23.0		1615	2.0	0.3	16		23	1,8337		0,1,4168	no	missense	MSLNL	NM_001025190.1	58	0,1,6230	TT,TC,CC		0.012,0.0,0.0080	possibly-damaging	539/1054	824957	1,12461	2062	4169	6231	SO:0001583	missense	401827				cell adhesion	integral to membrane		g.chr16:824957C>T			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.562G>A	16.37:g.824957C>T	ENSP00000415767:p.Ala188Thr		Somatic					p.A539T	NM_001025190	NP_001020361	WXS	Illumina GAIIx	Phase_I	Q96KJ4	MSLNL_HUMAN			6	1615	-			188						Missense_Mutation	SNP	ENST00000442466.1	37	c.1615G>A		.	.	.	.	.	.	.	.	.	.	c	13.61	2.287377	0.40494	0.0	1.2E-4	ENSG00000162006	ENST00000543963;ENST00000442466;ENST00000293892	T;T;T	0.11495	2.77;2.77;2.77	4.1	1.95	0.26073	.	0.416661	0.22018	N	0.065766	T	0.12689	0.0308	.	.	.	0.21579	N	0.999639	P	0.44521	0.837	P	0.45037	0.467	T	0.08046	-1.0741	9	0.51188	T	0.08	-14.1409	10.8934	0.47008	0.0:0.4533:0.5466:0.0	.	188	Q96KJ4	MSLNL_HUMAN	T	238;188;539	ENSP00000441381:A238T;ENSP00000415767:A188T;ENSP00000293892:A539T	ENSP00000293892:A539T	A	-	1	0	MSLNL	764958	0.004000	0.15560	0.268000	0.24571	0.209000	0.24338	0.638000	0.24674	0.908000	0.36671	-0.342000	0.07992	GCG		0.716	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		18	91	0	0	0	1	0	18	91				
USP41	373856	broad.mit.edu	37	22	20724427	20724427	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:20724427T>C	ENST00000454608.2	-	7	462	c.463A>G	c.(463-465)Atc>Gtc	p.I155V	USP41_ENST00000486536.2_5'UTR			Q3LFD5	UBP41_HUMAN	ubiquitin specific peptidase 41	155	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(1)|kidney(1)|lung(2)|skin(1)	5						ACATCAGCGATCTGGTCCTTA	0.468																																						uc011ahq.1																			0				endometrium(1)|kidney(1)|lung(2)|skin(1)	5						c.(241-243)Atc>Gtc		RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;																																				SO:0001583	missense	373856							g.chr22:20724427T>C	AJ586979		22q11.22	2011-01-31	2005-08-08		ENSG00000161133	ENSG00000161133		"""Ubiquitin-specific peptidases"""	20070	protein-coding gene	gene with protein product			"""ubiquitin specific protease 41"""			12838346	Standard	XM_006710116		Approved		uc011ahq.1	Q3LFD5	OTTHUMG00000151317	ENST00000454608.2:c.463A>G	22.37:g.20724427T>C	ENSP00000414922:p.Ile155Val		Somatic				USP41_uc011ahp.1_5'UTR	p.I81V			WXS	Illumina GAIIx	Phase_I					2	307	-								A8MXD0|Q70BM7	Missense_Mutation	SNP	ENST00000454608.2	37	c.241A>G		.	.	.	.	.	.	.	.	.	.	N	7.462	0.644977	0.14451	.	.	ENSG00000161133	ENST00000454608	T	0.05382	3.45	.	.	.	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.215610	0.47455	D	0.000221	T	0.12050	0.0293	L	0.54323	1.7	.	.	.	D	0.58620	0.983	P	0.55577	0.779	T	0.10497	-1.0627	7	0.62326	D	0.03	.	.	.	.	.	155	Q3LFD5	UBP41_HUMAN	V	155	ENSP00000414922:I155V	ENSP00000414922:I155V	I	-	1	0	USP41	19054427	0.917000	0.31117	0.148000	0.22405	0.150000	0.21749	1.682000	0.37628	0.229000	0.21039	0.227000	0.17789	ATC		0.468	USP41-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		XM_036729		4	199	0	0	0	1	0	4	199				
RBM12	10137	broad.mit.edu	37	20	34242285	34242285	+	Silent	SNP	G	G	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr20:34242285G>C	ENST00000374114.3	-	3	1223	c.960C>G	c.(958-960)gtC>gtG	p.V320V	RBM12_ENST00000359646.1_Silent_p.V320V|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000374104.3_Silent_p.V320V|CPNE1_ENST00000317677.5_5'Flank|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	320	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			AAAAATCTCTGACATCATTTT	0.438																																						uc002xdq.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(958-960)gtC>gtG		Homo sapiens RNA binding motif protein 12 (RBM12), transcript variant 2, mRNA.							94.0	93.0	93.0					20																	34242285		2203	4300	6503	SO:0001819	synonymous_variant	10137					nucleus	RNA binding|nucleotide binding|protein binding	g.chr20:34242285G>C	AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.960C>G	20.37:g.34242285G>C			Somatic				CPNE1_uc010zvj.2_5'Flank|CPNE1_uc002xde.3_Intron|CPNE1_uc002xdf.3_Intron|CPNE1_uc002xdi.3_Intron|CPNE1_uc002xdj.3_Intron|CPNE1_uc002xdl.3_Intron|CPNE1_uc002xdm.3_Intron|CPNE1_uc010gfk.2_Intron|CPNE1_uc002xdn.1_Intron|CPNE1_uc002xdo.1_Intron|CPNE1_uc002xdp.1_Intron|RBM12_uc002xds.3_Silent_p.V320V|RBM12_uc002xdr.3_Silent_p.V320V|RBM12_uc021wcq.1_Silent_p.V320V|RBM12_uc021wcr.1_Silent_p.V320V	p.V320V	NM_152838	NP_690051	WXS	Illumina GAIIx	Phase_I	Q9NTZ6	RBM12_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00953)		2	1232	-	Lung NSC(9;0.00608)|all_lung(11;0.00918)		320			RRM 1.		B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	c.960C>G	CCDS13261.1																																																																																				0.438	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047		4	153	0	0	0	1	0	4	153				
C8orf34	116328	broad.mit.edu	37	8	69434071	69434071	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr8:69434071G>A	ENST00000539993.1	+	6	1094	c.545G>A	c.(544-546)cGt>cAt	p.R182H	C8orf34_ENST00000337103.4_Missense_Mutation_p.R157H|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.R268H|C8orf34_ENST00000348340.2_Missense_Mutation_p.R182H			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	182								p.R157H(1)|p.R182H(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CTGAGGCCCCGTGTGATTGGA	0.413																																						uc010lyz.3																			2	Substitution - Missense(2)	p.R157H(1)|p.R182H(1)	endometrium(2)	NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36						c.(802-804)cGt>cAt		Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.							87.0	84.0	85.0					8																	69434071		2203	4300	6503	SO:0001583	missense	116328				signal transduction		cAMP-dependent protein kinase regulator activity	g.chr8:69434071G>A	AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.545G>A	8.37:g.69434071G>A	ENSP00000438159:p.Arg182His		Somatic				C8orf34_uc010lyy.2_Missense_Mutation_p.R268H|C8orf34_uc003xyb.3_Missense_Mutation_p.R157H	p.R268H	NM_052958	NP_443190	WXS	Illumina GAIIx	Phase_I	Q49A92	CH034_HUMAN	Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)		5	1094	+			182					A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	ENST00000539993.1	37	c.803G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.072284	0.93950	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.51817	0.69;0.73;0.71	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	L	0.57536	1.79	0.45867	D	0.998728	D;D	0.89917	1.0;1.0	D;D	0.83275	0.938;0.996	T	0.63418	-0.6642	9	.	.	.	-11.9929	19.6482	0.95790	0.0:0.0:1.0:0.0	.	182;182	Q49A92;Q49A92-3	CH034_HUMAN;.	H	268;182;182;157	ENSP00000427820:R268H;ENSP00000438159:R182H;ENSP00000337174:R157H	.	R	+	2	0	C8orf34	69596625	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.365000	0.90108	2.696000	0.92011	0.655000	0.94253	CGT		0.413	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_052958		28	44	0	0	0	1	0	28	44				
PKDREJ	10343	broad.mit.edu	37	22	46658226	46658226	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr22:46658226C>T	ENST00000253255.5	-	1	993	c.994G>A	c.(994-996)Gtc>Atc	p.V332I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	332	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GAACTCCTGACGATCCAGACA	0.547																																						uc003bhh.3																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(994-996)Gtc>Atc		Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.							125.0	133.0	131.0					22																	46658226		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658226C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.994G>A	22.37:g.46658226C>T	ENSP00000253255:p.Val332Ile		Somatic					p.V332I	NM_006071	NP_006062	WXS	Illumina GAIIx	Phase_I	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	0	994	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	332			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.994G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562384	0.27915	.	.	ENSG00000130943	ENST00000253255	T	0.70045	-0.45	4.78	-9.57	0.00562	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	4.250190	0.00819	N	0.001575	T	0.42720	0.1215	L	0.34521	1.04	0.09310	N	1	B	0.31026	0.304	B	0.20384	0.029	T	0.32771	-0.9894	10	0.33141	T	0.24	2.3754	0.5519	0.00664	0.2901:0.179:0.2873:0.2435	.	332	Q9NTG1	PKDRE_HUMAN	I	332	ENSP00000253255:V332I	ENSP00000253255:V332I	V	-	1	0	PKDREJ	45036890	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.172000	0.01266	-2.267000	0.00686	-0.199000	0.12753	GTC		0.547	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		7	372	0	0	0	1	0	7	372				
LAMA4	3910	broad.mit.edu	37	6	112479970	112479970	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:112479970G>T	ENST00000230538.7	-	14	2178	c.1781C>A	c.(1780-1782)gCa>gAa	p.A594E	RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.A587E|LAMA4_ENST00000522006.1_Missense_Mutation_p.A587E|RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000424408.2_Missense_Mutation_p.A587E	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	594	Domain II and I.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGGTCCTGTGCATGGTCAAT	0.343																																						uc003pvu.2																			0				NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100						c.(1780-1782)gCa>gAa		Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.							203.0	184.0	190.0					6																	112479970		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112479970G>T		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.1781C>A	6.37:g.112479970G>T	ENSP00000230538:p.Ala594Glu		Somatic				LAMA4_uc003pvv.2_Missense_Mutation_p.A587E|LAMA4_uc003pvt.2_Missense_Mutation_p.A587E	p.A594E	NM_001105206	NP_001098676	WXS	Illumina GAIIx	Phase_I	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	13	2090	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	594			Domain II and I.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.1781C>A	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358164	0.82243	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.56444	0.5;0.46;0.46;0.46	5.68	5.68	0.88126	.	0.096863	0.64402	D	0.000001	T	0.54759	0.1878	L	0.59436	1.845	0.80722	D	1	P;D	0.53462	0.933;0.96	P;P	0.52856	0.518;0.711	T	0.59418	-0.7458	10	0.87932	D	0	.	16.695	0.85333	0.0:0.0:1.0:0.0	.	594;587	Q16363;Q16363-2	LAMA4_HUMAN;.	E	594;587;587;587	ENSP00000230538:A594E;ENSP00000429488:A587E;ENSP00000374114:A587E;ENSP00000416470:A587E	ENSP00000230538:A594E	A	-	2	0	LAMA4	112586663	1.000000	0.71417	0.958000	0.39756	0.709000	0.40893	5.650000	0.67944	2.668000	0.90789	0.591000	0.81541	GCA		0.343	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		45	74	0	0	0	1	0	45	74				
MYOF	26509	broad.mit.edu	37	10	95121253	95121253	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:95121253T>C	ENST00000359263.4	-	28	2929	c.2930A>G	c.(2929-2931)gAt>gGt	p.D977G	MYOF_ENST00000371501.4_Missense_Mutation_p.D977G|MYOF_ENST00000358334.5_Missense_Mutation_p.D964G|MYOF_ENST00000371502.4_Missense_Mutation_p.D977G	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	977					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCATGCATCATCTTCCCATTC	0.458																																						uc001kin.3																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(2929-2931)gAt>gGt		Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.							207.0	204.0	205.0					10																	95121253		2011	4190	6201	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95121253T>C	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2930A>G	10.37:g.95121253T>C	ENSP00000352208:p.Asp977Gly		Somatic				MYOF_uc001kio.3_Missense_Mutation_p.D964G|MYOF_uc009xue.3_Non-coding_Transcript	p.D977G	NM_013451	NP_038479	WXS	Illumina GAIIx	Phase_I	Q9NZM1	MYOF_HUMAN			27	3053	-			977					B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.2930A>G	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.111814	0.77210	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	D;D;D;D	0.83250	-1.7;-1.69;-1.69;-1.69	5.81	5.81	0.92471	Ferlin/Peroxisome membrane (1);	0.000000	0.85682	D	0.000000	D	0.88160	0.6362	L	0.45698	1.435	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.997;0.999	D	0.87031	0.2135	10	0.36615	T	0.2	-24.3735	16.1773	0.81862	0.0:0.0:0.0:1.0	.	964;977	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	G	964;977;977;977	ENSP00000351094:D964G;ENSP00000352208:D977G;ENSP00000360556:D977G;ENSP00000360557:D977G	ENSP00000351094:D964G	D	-	2	0	MYOF	95111243	1.000000	0.71417	0.991000	0.47740	0.552000	0.35366	7.683000	0.84093	2.217000	0.71921	0.482000	0.46254	GAT		0.458	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		73	107	0	0	0	1	0	73	107				
TNXB	7148	broad.mit.edu	37	6	32021216	32021216	+	Missense_Mutation	SNP	C	C	A	rs200708257	byFrequency	TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr6:32021216C>A	ENST00000375244.3	-	25	8941	c.8740G>T	c.(8740-8742)Ggc>Tgc	p.G2914C	TNXB_ENST00000375247.2_Missense_Mutation_p.G2912C			P22105	TENX_HUMAN	tenascin XB	2961	Fibronectin type-III 21. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						CCGTGGAAGCCGTACAGGTTC	0.657																																						uc003nzl.2																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(8734-8736)Ggc>Tgc		Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.							48.0	50.0	49.0					6																	32021216		1244	2559	3803	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.chr6:32021216C>A	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	ENST00000375244.3:c.8740G>T	6.37:g.32021216C>A	ENSP00000364393:p.Gly2914Cys		Somatic					p.G2912C	NM_019105	NP_061978	WXS	Illumina GAIIx	Phase_I	P22105	TENX_HUMAN			24	8936	-			2961			Fibronectin type-III 21.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.8734G>T		.	.	.	.	.	.	.	.	.	.	c	19.54	3.847474	0.71603	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57595	0.39;0.39	4.39	4.39	0.52855	.	.	.	.	.	T	0.75810	0.3900	H	0.95816	3.725	0.37252	D	0.906608	D	0.89917	1.0	D	0.97110	1.0	D	0.84426	0.0574	9	0.87932	D	0	.	13.8893	0.63729	0.0:1.0:0.0:0.0	.	2912	P22105-3	.	C	2914;2912	ENSP00000364393:G2914C;ENSP00000364396:G2912C	ENSP00000364393:G2914C	G	-	1	0	TNXB	32129194	0.961000	0.32948	0.989000	0.46669	0.827000	0.46813	5.079000	0.64431	1.989000	0.58080	0.543000	0.68304	GGC		0.657	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	97	0	0	0	1	0	4	97				
GALNT12	79695	broad.mit.edu	37	9	101589093	101589093	+	Missense_Mutation	SNP	C	C	A	rs372616005		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr9:101589093C>A	ENST00000375011.3	+	3	601	c.601C>A	c.(601-603)Cgc>Agc	p.R201S		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	201	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GCGCCTGATCCGCGCCAACAA	0.627																																						uc004ayz.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(601-603)Cgc>Agc		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) (GALNT12), mRNA.							39.0	37.0	37.0					9																	101589093		2203	4299	6502	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101589093C>A	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.601C>A	9.37:g.101589093C>A	ENSP00000364150:p.Arg201Ser		Somatic					p.R201S	NM_024642	NP_078918	WXS	Illumina GAIIx	Phase_I	Q8IXK2	GLT12_HUMAN			2	601	+		Acute lymphoblastic leukemia(62;0.0559)	201			Catalytic subdomain A.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.601C>A	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	C	36	5.667262	0.96745	.	.	ENSG00000119514	ENST00000375011	T	0.64260	-0.09	5.96	5.96	0.96718	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.84433	2.695	0.80722	D	1	D	0.63046	0.992	P	0.57846	0.828	T	0.82131	-0.0609	10	0.87932	D	0	.	17.902	0.88907	0.0:1.0:0.0:0.0	.	201	Q8IXK2	GLT12_HUMAN	S	201	ENSP00000364150:R201S	ENSP00000364150:R201S	R	+	1	0	GALNT12	100628914	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	5.942000	0.70203	2.814000	0.96858	0.655000	0.94253	CGC		0.627	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		3	40	0	0	0	1	0	3	40				
BRAF	673	broad.mit.edu	37	7	140453140	140453193	+	In_Frame_Ins	INS	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	rs121913370|rs121913336|rs121913337|rs397507483|rs121913363|rs397507482|rs121913340|rs121913341|rs121913366|rs121913338|rs121913361|rs121913362|rs55939351|rs121913225|rs397516895|rs397516896|rs121913368|rs121913369|rs121913335		TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr7:140453140_140453193insTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	ENST00000288602.6	-	15	1802_1855	c.1742_1795insATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTAATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTA	c.(1741-1797)aatatatttcttcatgaagacctcacagtaaaaataggtgattttggtctagcATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTAtaca>aatatatttcttcatgaagacctcacagtaaaaataggtgattttggtctagcaATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTAATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTAtatatttcttcatgaagacctcacagtaaaaataggtgattttggtctagctataca	p.599_599T>IYFFMKTSQ*K*VILV*LIYFFMKTSQ*K*VILV*LYISS*RPHSKNR*FWSSYT		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> R (in CFC1). {ECO:0000269|PubMed:19206169}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D594G(35)|p.L597R(14)|p.L597V(11)|p.D594N(9)|p.L597S(9)|p.N581S(9)|p.F595L(8)|p.L597Q(8)|p.A598_T599insV(6)|p.G596R(6)|p.E586E(4)|p.I592M(4)|p.F583F(4)|p.A598V(4)|p.L597L(3)|p.F595S(3)|p.D594V(3)|p.E586K(3)|p.L584L(3)|p.D594H(2)|p.D594E(2)|p.I592V(2)|p.G596D(2)|p.L584F(2)|p.I582M(2)|p.D587E(2)|p.D594D(1)|p.K591R(1)|p.N581I(1)|p.H585H(1)|p.G596fs*2(1)|p.D587N(1)|p.V590I(1)|p.D587A(1)|p.A598T(1)|p.G593D(1)|p.T589I(1)|p.V590fs*3(1)|p.L588R(1)|p.L588P(1)|p.V590V(1)|p.G593S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GATTTCACTGTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATCTGAGGTGTA	0.354	G596R(NCIH508_LARGE_INTESTINE)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	G596R(NCIH508_LARGE_INTESTINE)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	176	Substitution - Missense(151)|Substitution - coding silent(17)|Insertion - In frame(6)|Deletion - Frameshift(2)	p.D594G(35)|p.L597R(14)|p.L597V(11)|p.D594N(9)|p.L597S(9)|p.N581S(9)|p.F595L(8)|p.L597Q(8)|p.A598_T599insV(6)|p.G596R(6)|p.E586E(4)|p.I592M(4)|p.F583F(4)|p.A598V(4)|p.L597L(3)|p.F595S(3)|p.D594V(3)|p.E586K(3)|p.L584L(3)|p.D594H(2)|p.D594E(2)|p.I592V(2)|p.G596D(2)|p.L584F(2)|p.I582M(2)|p.D587E(2)|p.D594D(1)|p.K591R(1)|p.N581I(1)|p.H585H(1)|p.G596fs*2(1)|p.D587N(1)|p.V590I(1)|p.D587A(1)|p.A598T(1)|p.G593D(1)|p.T589I(1)|p.V590fs*3(1)|p.L588R(1)|p.L588P(1)|p.V590V(1)|p.G593S(1)	skin(78)|large_intestine(35)|lung(21)|thyroid(9)|haematopoietic_and_lymphoid_tissue(7)|ovary(7)|cervix(3)|endometrium(3)|biliary_tract(2)|stomach(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|central_nervous_system(1)|salivary_gland(1)|kidney(1)|prostate(1)|bone(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	GRCh37	CM060877|CM060882|CM080112	BRAF	M	rs121913341	c.e15-1		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)																																			SO:0001652	inframe_insertion	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453140_140453193TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT>TAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1742_1795insATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTAATATATTTCTTCATGAAGACCTCACAGTAAAAATAGGTGATTTTGGTCTAGCTA	7.37:g.140453140_140453193insTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATATTAGCTAGACCAAAATCACCTATTTTTACTGTGAGGTCTTCATGAAGAAATATAT	ENSP00000288602:p.Thr599delinsIleTyrPhePheMetLysThrSerGln*Lys*ValIleLeuVal*LeuIleTyrPhePheMetLysThrSerGln*Lys*ValIleLeuVal*LeuTyrIleSerSer*ArgProHisSerLysAsnArg*PheTrpSerSerTyrThr		Somatic					p.N581_splice	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			15	1803	-	Melanoma(164;0.00956)		581		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Splice_Site	INS	ENST00000288602.6	37	c.1742_splice	CCDS5863.1																																																																																				0.354	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		35	135						35	135	---	---	---	---
RBM6	10180	broad.mit.edu	37	3	50004962	50004962	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr3:50004962delT	ENST00000266022.4	+	3	363	c.104delT	c.(103-105)cttfs	p.L35fs	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000441115.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	35					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CCTCCTCCCCTTAAGAGTCAT	0.483																																						uc003cyc.3																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33						c.(103-105)cttfs		Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.							100.0	105.0	103.0					3																	50004962		2203	4300	6503	SO:0001589	frameshift_variant	10180				RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding	g.chr3:50004962delT	AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.104delT	3.37:g.50004962delT	ENSP00000266022:p.Leu35fs		Somatic				RBM6_uc011bdh.2_Non-coding_Transcript|RBM6_uc010hlc.2_Intron|RBM6_uc003cyd.3_Intron|RBM6_uc011bdi.2_Intron|RBM6_uc003cye.3_Intron|RBM6_uc010hlf.2_Intron|RBM6_uc010hld.2_Intron|RBM6_uc010hle.2_Intron	p.L35fs	NM_005777	NP_001161054	WXS	Illumina GAIIx	Phase_I	P78332	RBM6_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)	2	352	+			35					O60549|O75524|Q86SS3	Frame_Shift_Del	DEL	ENST00000266022.4	37	c.104delT	CCDS2809.1																																																																																				0.483	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345528.4	NM_005777		72	107						72	107	---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29773738	29773738	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BJ-A28S-01A-11D-A19J-08	TCGA-BJ-A28S-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	574a6f3e-f543-4d69-a672-75a0a0d13b7e	5f1f775a-9dd6-4a48-b6b4-9441cc7e3006	g.chr10:29773738delC	ENST00000355867.4	-	27	5554	c.4802delG	c.(4801-4803)agtfs	p.S1601fs	PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Del_p.S515fs|SVIL_ENST00000538146.1_Frame_Shift_Del_p.S393fs|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375398.2_Frame_Shift_Del_p.S1601fs|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Frame_Shift_Del_p.S1175fs|PTCHD3P1_ENST00000414457.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1601	Interaction with NEB.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTAAACTTCACTACCAAAATC	0.403																																						uc001iut.1																			0		p.S1601S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(4801-4803)agtfs		Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.							104.0	91.0	95.0					10																	29773738		2203	4300	6503	SO:0001589	frameshift_variant	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29773738delC	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.4802delG	10.37:g.29773738delC	ENSP00000348128:p.Ser1601fs		Somatic				LOC387647_uc001iup.3_Non-coding_Transcript|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.S515fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.S1175fs|SVIL_uc009xlc.2_Frame_Shift_Del_p.S393fs	p.S1601fs	NM_021738	NP_068506	WXS	Illumina GAIIx	Phase_I	O95425	SVIL_HUMAN			26	5555	-		Breast(68;0.103)	1601			Interaction with NEB.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Frame_Shift_Del	DEL	ENST00000355867.4	37	c.4802delG	CCDS7164.1																																																																																				0.403	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			37	62						37	62	---	---	---	---
