#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
PIM2	11040	broad.mit.edu	37	X	48772508	48772508	+	Silent	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chrX:48772508A>G	ENST00000376509.4	-	4	573	c.384T>C	c.(382-384)taT>taC	p.Y128Y	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	128	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						TCTCTGTGATATAGTCAAAGA	0.597																																						uc004dls.3																			0				lung(3)|stomach(1)	4						c.(382-384)taT>taC		Homo sapiens pim-2 oncogene (PIM2), mRNA.							43.0	39.0	40.0					X																	48772508		2203	4300	6503	SO:0001819	synonymous_variant	11040				anti-apoptosis|cell proliferation|male meiosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of autophagy|response to virus		ATP binding|protein serine/threonine kinase activity	g.chrX:48772508A>G	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.384T>C	X.37:g.48772508A>G			Somatic					p.Y128Y	NM_006875	NP_006866	WXS	Illumina GAIIx	Phase_I	Q9P1W9	PIM2_HUMAN			3	686	-			128			Protein kinase.		A8K4G6|Q99739	Silent	SNP	ENST00000376509.4	37	c.384T>C	CCDS14312.1																																																																																				0.597	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060805.1			3	64	0	0	0	1	0	3	64				
ZNF500	26048	broad.mit.edu	37	16	4810510	4810510	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr16:4810510G>A	ENST00000219478.6	-	5	1042	c.743C>T	c.(742-744)gCg>gTg	p.A248V	ZNF500_ENST00000545009.1_Missense_Mutation_p.A248V			O60304	ZN500_HUMAN	zinc finger protein 500	248	KRAB.				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)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CTCCAGCGGCGCGTCCCGCTG	0.577																																						uc002cxp.1																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(742-744)gCg>gTg		Homo sapiens zinc finger protein 500 (ZNF500), mRNA.							116.0	97.0	104.0					16																	4810510		2197	4300	6497	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4810510G>A	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.743C>T	16.37:g.4810510G>A	ENSP00000219478:p.Ala248Val		Somatic				ZNF500_uc002cxo.1_Missense_Mutation_p.A40V|ZNF500_uc010uxt.1_Missense_Mutation_p.A248V	p.A248V	NM_021646	NP_067678	WXS	Illumina GAIIx	Phase_I	O60304	ZN500_HUMAN			4	990	-			248			KRAB.		A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.743C>T	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.740259	0.00675	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.05319	3.54;3.46	3.16	-6.33	0.01988	Krueppel-associated box (1);	.	.	.	.	T	0.01870	0.0059	N	0.02247	-0.625	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46652	-0.9176	9	0.13470	T	0.59	.	5.8128	0.18475	0.3214:0.4054:0.2732:0.0	.	248;248	B4DNN9;O60304	.;ZN500_HUMAN	V	248	ENSP00000445714:A248V;ENSP00000219478:A248V	ENSP00000219478:A248V	A	-	2	0	ZNF500	4750511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.117000	0.03283	-1.846000	0.01175	-2.214000	0.00298	GCG		0.577	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		26	106	0	0	0	1	0	26	106				
COL2A1	1280	broad.mit.edu	37	12	48391978	48391978	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr12:48391978T>C	ENST00000380518.3	-	4	480	c.316A>G	c.(316-318)Aaa>Gaa	p.K106E	COL2A1_ENST00000337299.6_Missense_Mutation_p.K37E	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	106					axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGTTCTCCTTTCTGTCCCTGA	0.483																																						uc001rqu.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(316-318)Aaa>Gaa		Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	Collagenase(DB00048)						150.0	143.0	145.0					12																	48391978		2203	4300	6503	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48391978T>C	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.316A>G	12.37:g.48391978T>C	ENSP00000369889:p.Lys106Glu		Somatic				COL2A1_uc001rqv.3_Missense_Mutation_p.K37E	p.K106E	NM_001844	NP_001835	WXS	Illumina GAIIx	Phase_I	P02458	CO2A1_HUMAN			3	497	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	106					A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.316A>G	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.946233	0.73672	.	.	ENSG00000139219	ENST00000380518;ENST00000337299	D;D	0.96522	-4.04;-4.04	5.04	5.04	0.67666	.	.	.	.	.	D	0.97723	0.9253	M	0.77486	2.375	0.80722	D	1	D;D	0.63880	0.974;0.993	D;D	0.68192	0.953;0.956	D	0.98479	1.0604	9	0.87932	D	0	.	14.0685	0.64847	0.0:0.0:0.0:1.0	.	37;106	P02458-1;P02458	.;CO2A1_HUMAN	E	106;37	ENSP00000369889:K106E;ENSP00000338213:K37E	ENSP00000338213:K37E	K	-	1	0	COL2A1	46678245	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.678000	0.84035	2.047000	0.60756	0.454000	0.30748	AAA		0.483	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		6	105	0	0	0	1	0	6	105				
NGF	4803	broad.mit.edu	37	1	115828959	115828959	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:115828959T>C	ENST00000369512.2	-	3	626	c.458A>G	c.(457-459)aAg>aGg	p.K153R	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	153					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CTCCTTGCCCTTGATGTCTGT	0.517																																						uc001efu.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(457-459)aAg>aGg		Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	Clenbuterol(DB01407)						144.0	126.0	133.0					1																	115828959		2203	4300	6503	SO:0001583	missense	4803				Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding	g.chr1:115828959T>C		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.458A>G	1.37:g.115828959T>C	ENSP00000358525:p.Lys153Arg		Somatic				NGF_uc021osd.1_Missense_Mutation_p.K153R	p.K153R	NM_002506	NP_002497	WXS	Illumina GAIIx	Phase_I	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	2	627	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	153					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.458A>G	CCDS882.1	.	.	.	.	.	.	.	.	.	.	T	17.45	3.392594	0.62066	.	.	ENSG00000134259	ENST00000369512	T	0.65732	-0.17	5.02	5.02	0.67125	Nerve growth factor-related (4);	0.284918	0.39475	N	0.001358	T	0.45196	0.1330	N	0.11892	0.195	0.38560	D	0.94968	P	0.44659	0.84	P	0.55087	0.768	T	0.50074	-0.8870	10	0.27082	T	0.32	-19.5969	13.9972	0.64409	0.0:0.0:0.0:1.0	.	153	P01138	NGF_HUMAN	R	153	ENSP00000358525:K153R	ENSP00000358525:K153R	K	-	2	0	NGF	115630482	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.346000	0.52190	2.008000	0.58898	0.260000	0.18958	AAG		0.517	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	NM_002506		5	150	0	0	0	1	0	5	150				
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						uc010qvs.2																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.							76.0	89.0	84.0					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly		Somatic				NLRP6_uc010qvt.2_Missense_Mutation_p.E611G	p.E611G	NM_138329	NP_612202	WXS	Illumina GAIIx	Phase_I	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	3	1832	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		4	182	0	0	0	1	0	4	182				
RMND1	55005	broad.mit.edu	37	6	151757610	151757610	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr6:151757610C>T	ENST00000367303.4	-	3	706	c.584G>A	c.(583-585)gGa>gAa	p.G195E	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	195					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		TTCAACATATCCGTGGGAGGC	0.423																																						uc003qoi.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(583-585)gGa>gAa		Homo sapiens required for meiotic nuclear division 1 homolog (S. cerevisiae) (RMND1), mRNA.							160.0	148.0	152.0					6																	151757610		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151757610C>T	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.584G>A	6.37:g.151757610C>T	ENSP00000356272:p.Gly195Glu		Somatic				RMND1_uc011eeq.1_5'UTR|RMND1_uc003qoj.3_Missense_Mutation_p.G195E|RMND1_uc011eer.1_Missense_Mutation_p.G195E	p.G195E	NM_017909	NP_060379	WXS	Illumina GAIIx	Phase_I	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	764	-		Ovarian(120;0.125)	195					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.584G>A	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716479	0.89205	.	.	ENSG00000155906	ENST00000367303;ENST00000444024	T	0.52057	0.68	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.55955	0.1953	L	0.36672	1.1	0.80722	D	1	D;P	0.89917	1.0;0.944	D;P	0.97110	1.0;0.578	T	0.56679	-0.7939	10	0.66056	D	0.02	-26.4209	19.9882	0.97356	0.0:1.0:0.0:0.0	.	195;195	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	E	195;25	ENSP00000356272:G195E	ENSP00000356272:G195E	G	-	2	0	RMND1	151799303	1.000000	0.71417	0.957000	0.39632	0.945000	0.59286	6.058000	0.71126	2.824000	0.97209	0.655000	0.94253	GGA		0.423	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		17	110	0	0	0	1	0	17	110				
AGPS	8540	broad.mit.edu	37	2	178378622	178378622	+	Silent	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr2:178378622T>C	ENST00000264167.4	+	17	1829	c.1683T>C	c.(1681-1683)ccT>ccC	p.P561P	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	561					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AGTTTGCTCCTTTTTCTACAT	0.303																																						uc002ull.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1681-1683)ccT>ccC		Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.							104.0	106.0	105.0					2																	178378622		2203	4299	6502	SO:0001819	synonymous_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178378622T>C	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	ENST00000264167.4:c.1683T>C	2.37:g.178378622T>C			Somatic				AGPS_uc010zfb.1_Silent_p.P471P	p.P561P	NM_003659	NP_003650	WXS	Illumina GAIIx	Phase_I	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		16	1730	+			561					A5D8U9|Q2TU35	Silent	SNP	ENST00000264167.4	37	c.1683T>C	CCDS2275.1																																																																																				0.303	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2			3	93	0	0	0	1	0	3	93				
KDM4C	23081	broad.mit.edu	37	9	6893216	6893216	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr9:6893216G>A	ENST00000381309.3	+	8	1470	c.905G>A	c.(904-906)gGa>gAa	p.G302E	KDM4C_ENST00000442236.2_Missense_Mutation_p.G121E|KDM4C_ENST00000381306.3_Missense_Mutation_p.G302E|KDM4C_ENST00000535193.1_Missense_Mutation_p.G324E|KDM4C_ENST00000536108.1_Missense_Mutation_p.G121E|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000543771.1_Missense_Mutation_p.G302E	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	302	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K9 demethylation (GO:0033169)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	androgen receptor binding (GO:0050681)|dioxygenase activity (GO:0051213)|enzyme binding (GO:0019899)|histone demethylase activity (H3-K9 specific) (GO:0032454)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						ATTGACTATGGAAAAGTTGCC	0.363																																						uc003zkh.3																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(904-906)gGa>gAa		Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.							95.0	96.0	95.0					9																	6893216		2203	4300	6503	SO:0001583	missense	23081				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr9:6893216G>A	AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	17071	protein-coding gene	gene with protein product	"""tudor domain containing 14C"""	605469	"""jumonji domain containing 2C"""	JMJD2C		9872452, 15138608	Standard	NM_015061		Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.905G>A	9.37:g.6893216G>A	ENSP00000370710:p.Gly302Glu		Somatic				KDM4C_uc010mhu.2_Missense_Mutation_p.G324E|KDM4C_uc010mhw.3_Missense_Mutation_p.G302E|KDM4C_uc011lmi.1_Missense_Mutation_p.G302E|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Missense_Mutation_p.G302E|KDM4C_uc011lmk.2_Missense_Mutation_p.G121E	p.G302E	NM_015061	NP_055876	WXS	Illumina GAIIx	Phase_I	Q9H3R0	KDM4C_HUMAN			7	1485	+			302			JmjC.		B4E1Y4|B7ZL46|F5H347|F5H7P0|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	Missense_Mutation	SNP	ENST00000381309.3	37	c.905G>A	CCDS6471.1	.	.	.	.	.	.	.	.	.	.	G	31	5.086035	0.94100	.	.	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000442236;ENST00000536108	T;T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54;-0.54	5.72	5.72	0.89469	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.91506	0.7318	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.94199	0.7448	10	0.87932	D	0	-6.0165	20.244	0.98389	0.0:0.0:1.0:0.0	.	121;302;302;324;302;302	E7EV17;F5H347;B4E1Y4;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;.;.;KDM4C_HUMAN;.	E	324;302;302;302;121;121	ENSP00000442382:G324E;ENSP00000445427:G302E;ENSP00000370710:G302E;ENSP00000370707:G302E;ENSP00000409353:G121E;ENSP00000440656:G121E	ENSP00000370707:G302E	G	+	2	0	KDM4C	6883216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.747000	0.98863	2.865000	0.98341	0.655000	0.94253	GGA		0.363	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051692.1	NM_015061		5	121	0	0	0	1	0	5	121				
TPPP2	122664	broad.mit.edu	37	14	21500190	21500190	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:21500190T>C	ENST00000321760.6	+	4	615	c.467T>C	c.(466-468)gTg>gCg	p.V156A	RP11-998D10.1_ENST00000531638.1_5'Flank|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000530140.2_Missense_Mutation_p.V156A	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	156						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACAGGCTATGTGAGTGGTTAC	0.542																																						uc001vzh.3																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(466-468)gTg>gCg		Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA.							202.0	154.0	170.0					14																	21500190		2203	4300	6503	SO:0001583	missense	122664					cytoplasm		g.chr14:21500190T>C	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.467T>C	14.37:g.21500190T>C	ENSP00000317595:p.Val156Ala		Somatic				NDRG2_uc010tll.2_Intron	p.V156A	NM_173846	NP_776245	WXS	Illumina GAIIx	Phase_I	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	655	+	all_cancers(95;0.000759)		156					Q2VYF3	Missense_Mutation	SNP	ENST00000321760.6	37	c.467T>C	CCDS9566.1	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657039	0.67586	.	.	ENSG00000179636	ENST00000321760;ENST00000530140	T;T	0.59083	0.29;0.29	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.79511	0.4458	M	0.92026	3.265	0.80722	D	1	D	0.64830	0.994	D	0.85130	0.997	D	0.83917	0.0299	10	0.87932	D	0	-5.5496	12.0841	0.53688	0.0:0.0:0.0:1.0	.	156	P59282	TPPP2_HUMAN	A	156	ENSP00000317595:V156A;ENSP00000435356:V156A	ENSP00000317595:V156A	V	+	2	0	TPPP2	20570030	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	7.849000	0.86908	2.011000	0.59026	0.533000	0.62120	GTG		0.542	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		4	112	0	0	0	1	0	4	112				
TUBB2B	347733	broad.mit.edu	37	6	3226415	3226415	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr6:3226415G>C	ENST00000259818.7	-	3	446	c.255C>G	c.(253-255)ttC>ttG	p.F85L	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	85					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|neuron migration (GO:0001764)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TGTCTGGTCTGAAGATCTGGC	0.527																																						uc003mvg.3																			0				kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10						c.(253-255)ttC>ttG		Homo sapiens tubulin, beta 2B class IIb (TUBB2B), mRNA.							112.0	97.0	102.0					6																	3226415		2203	4300	6503	SO:0001583	missense	347733				'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr6:3226415G>C	BC001352	CCDS4485.1	6p25.2	2011-10-10	2011-10-10		ENSG00000137285	ENSG00000137285		"""Tubulins"""	30829	protein-coding gene	gene with protein product	"""class IIb beta-tubulin"""	612850	"""tubulin, beta 2B"""			8619474, 9110174	Standard	NM_178012		Approved	MGC8685, DKFZp566F223, bA506K6.1	uc003mvg.3	Q9BVA1	OTTHUMG00000014143	ENST00000259818.7:c.255C>G	6.37:g.3226415G>C	ENSP00000259818:p.Phe85Leu		Somatic				AK096219_uc003mvi.1_5'Flank	p.F85L	NM_178012	NP_821080	WXS	Illumina GAIIx	Phase_I	Q9BVA1	TBB2B_HUMAN			2	446	-	Ovarian(93;0.0386)	all_hematologic(90;0.108)	85					A8K068	Missense_Mutation	SNP	ENST00000259818.7	37	c.255C>G	CCDS4485.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330084	0.41297	.	.	ENSG00000137285	ENST00000259818	T	0.70749	-0.51	5.31	4.45	0.53987	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	D	0.000003	D	0.82416	0.5032	M	0.93978	3.48	0.80722	D	1	P	0.35383	0.498	P	0.57204	0.815	D	0.84788	0.0777	10	0.87932	D	0	.	8.8079	0.34950	0.2269:0.0:0.7731:0.0	.	85	Q9BVA1	TBB2B_HUMAN	L	85	ENSP00000259818:F85L	ENSP00000259818:F85L	F	-	3	2	TUBB2B	3171414	1.000000	0.71417	1.000000	0.80357	0.490000	0.33462	3.505000	0.53356	1.240000	0.43803	-0.222000	0.12452	TTC		0.527	TUBB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039680.2	NM_178012		48	54	0	0	0	1	0	48	54				
MYO1D	4642	broad.mit.edu	37	17	31082524	31082524	+	Missense_Mutation	SNP	A	A	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr17:31082524A>T	ENST00000318217.5	-	11	1757	c.1453T>A	c.(1453-1455)Ttt>Att	p.F485I	MYO1D_ENST00000394649.4_Missense_Mutation_p.F397I|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000579584.1_Missense_Mutation_p.F485I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	485	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CGGCTGGAAAAATGGGCGTGT	0.398																																						uc002hho.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1453-1455)Ttt>Att		Homo sapiens myosin ID (MYO1D), mRNA.							117.0	106.0	110.0					17																	31082524		2203	4300	6503	SO:0001583	missense	4642					myosin complex	ATP binding|actin binding|calmodulin binding	g.chr17:31082524A>T	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1453T>A	17.37:g.31082524A>T	ENSP00000324527:p.Phe485Ile		Somatic				MYO1D_uc002hhp.1_Missense_Mutation_p.F485I	p.F485I	NM_015194	NP_056009	WXS	Illumina GAIIx	Phase_I	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		10	1465	-			485			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.1453T>A	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.076572	0.76415	.	.	ENSG00000176658	ENST00000318217	D	0.90133	-2.62	6.17	6.17	0.99709	Myosin head, motor domain (2);	0.188928	0.25081	U	0.033286	D	0.89378	0.6698	L	0.49126	1.545	0.80722	D	1	B;B	0.20780	0.048;0.048	B;B	0.30179	0.112;0.112	D	0.86396	0.1739	10	0.87932	D	0	.	14.7743	0.69713	1.0:0.0:0.0:0.0	.	396;485	Q7Z3N6;O94832	.;MYO1D_HUMAN	I	485	ENSP00000324527:F485I	ENSP00000324527:F485I	F	-	1	0	MYO1D	28106637	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	TTT		0.398	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			11	105	0	0	0	1	0	11	105				
SLAMF8	56833	broad.mit.edu	37	1	159799959	159799959	+	Missense_Mutation	SNP	A	A	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:159799959A>T	ENST00000289707.5	+	2	493	c.344A>T	c.(343-345)cAg>cTg	p.Q115L	SLAMF8_ENST00000368104.4_Intron|SLAMF8_ENST00000471286.1_3'UTR	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	115					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CCCTGGACCCAGACCCTCCAG	0.617																																						uc001fue.4																			0				endometrium(2)|large_intestine(4)|lung(6)	12						c.(343-345)cAg>cTg		Homo sapiens SLAM family member 8 (SLAMF8), mRNA.							35.0	37.0	37.0					1																	159799959		2203	4300	6503	SO:0001583	missense	56833					integral to membrane		g.chr1:159799959A>T	AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.344A>T	1.37:g.159799959A>T	ENSP00000289707:p.Gln115Leu		Somatic					p.Q115L	NM_020125	NP_064510	WXS	Illumina GAIIx	Phase_I	Q9P0V8	SLAF8_HUMAN			1	554	+	all_hematologic(112;0.0597)		115					Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	c.344A>T	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	A	14.61	2.588277	0.46110	.	.	ENSG00000158714	ENST00000289707	T	0.20598	2.06	4.55	4.55	0.56014	.	0.483471	0.20393	N	0.093220	T	0.07548	0.0190	L	0.32530	0.975	0.80722	D	1	P	0.47409	0.895	P	0.44518	0.452	T	0.10132	-1.0643	10	0.10377	T	0.69	-12.9132	10.2113	0.43143	1.0:0.0:0.0:0.0	.	115	Q9P0V8	SLAF8_HUMAN	L	115	ENSP00000289707:Q115L	ENSP00000289707:Q115L	Q	+	2	0	SLAMF8	158066583	0.999000	0.42202	1.000000	0.80357	0.651000	0.38670	1.366000	0.34193	1.919000	0.55581	0.260000	0.18958	CAG		0.617	SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125		19	26	0	0	0	1	0	19	26				
TNNT2	7139	broad.mit.edu	37	1	201333480	201333480	+	Silent	SNP	G	G	A	rs375675827		TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:201333480G>A	ENST00000509001.1	-	10	691	c.405C>T	c.(403-405)gcC>gcT	p.A135A	TNNT2_ENST00000236918.7_Silent_p.A140A|TNNT2_ENST00000360372.4_Silent_p.A130A|TNNT2_ENST00000367322.1_Silent_p.A135A|TNNT2_ENST00000367315.2_Silent_p.A135A|TNNT2_ENST00000458432.2_Silent_p.A147A|TNNT2_ENST00000367318.5_Silent_p.A135A|TNNT2_ENST00000421663.2_Silent_p.A137A|TNNT2_ENST00000367317.4_Silent_p.A135A|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367320.2_Silent_p.A105A	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	145					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GCTGCTGCTCGGCCCGCTCTG	0.642																																						uc001gwf.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						c.(433-435)gcC>gcT		Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.		G	,,,	0,4406		0,0,2203	44.0	39.0	40.0		435,405,405,390	-8.6	0.2	1		40	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TNNT2	NM_000364.2,NM_001001430.1,NM_001001431.1,NM_001001432.1	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	145/296,135/289,135/286,130/283	201333480	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7139				ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr1:201333480G>A	X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.405C>T	1.37:g.201333480G>A			Somatic				TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_5'Flank|TNNT2_uc021phc.1_Silent_p.A135A|TNNT2_uc001gwg.3_Silent_p.A135A|TNNT2_uc001gwh.3_Silent_p.A126A|TNNT2_uc001gwi.3_Silent_p.A105A|TNNT2_uc009wzr.3_Silent_p.A76A|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Silent_p.A110A|TNNT2_uc001gwk.1_Silent_p.A76A|TNNT2_uc009wzt.1_Silent_p.A135A	p.A145A	NM_000364	NP_000355	WXS	Illumina GAIIx	Phase_I	P45379	TNNT2_HUMAN			10	504	-			145					A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Silent	SNP	ENST00000509001.1	37	c.435C>T	CCDS30969.1																																																																																				0.642	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360358.1	NM_000364		3	54	0	0	0	1	0	3	54				
FNDC3A	22862	broad.mit.edu	37	13	49765500	49765500	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr13:49765500C>A	ENST00000492622.2	+	19	2511	c.2206C>A	c.(2206-2208)Cgt>Agt	p.R736S	FNDC3A_ENST00000398316.3_Missense_Mutation_p.R680S|FNDC3A_ENST00000541916.1_Missense_Mutation_p.R736S	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	736	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CTTCAGACTACGTGCAGCTAA	0.363																																						uc001vcm.3																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2206-2208)Cgt>Agt		Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.							96.0	97.0	97.0					13																	49765500		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49765500C>A	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2206C>A	13.37:g.49765500C>A	ENSP00000417257:p.Arg736Ser		Somatic				FNDC3A_uc001vcn.3_Missense_Mutation_p.R736S|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Missense_Mutation_p.R680S	p.R736S	NM_001079673	NP_001073141	WXS	Illumina GAIIx	Phase_I	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	18	2511	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	736			Fibronectin type-III 5.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2206C>A	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360043	0.41801	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.58210	0.35;0.35;0.35	5.47	4.61	0.57282	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.280994	0.28933	N	0.013661	T	0.53254	0.1785	L	0.48260	1.515	0.34747	D	0.731335	B;B	0.26577	0.153;0.048	B;B	0.40134	0.32;0.09	T	0.60541	-0.7243	10	0.25106	T	0.35	0.0845	13.7485	0.62890	0.2778:0.7222:0.0:0.0	.	680;736	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	S	736;672;736;680	ENSP00000417257:R736S;ENSP00000441831:R736S;ENSP00000381362:R680S	ENSP00000338579:R672S	R	+	1	0	FNDC3A	48663501	0.994000	0.37717	0.471000	0.27229	0.973000	0.67179	3.218000	0.51192	1.270000	0.44297	0.655000	0.94253	CGT		0.363	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		3	100	0	0	0	1	0	3	100				
AKAP9	10142	broad.mit.edu	37	7	91711855	91711855	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:91711855A>G	ENST00000359028.2	+	33	8300	c.8075A>G	c.(8074-8076)cAt>cGt	p.H2692R	AKAP9_ENST00000358100.2_Missense_Mutation_p.H2692R|AKAP9_ENST00000356239.3_Missense_Mutation_p.H2680R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2692	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGCTATTTCATAGCAATGAA	0.338			T	BRAF	papillary thyroid																																	uc003ulg.3				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(8038-8040)cAt>cGt		Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.							68.0	71.0	70.0					7																	91711855		2203	4300	6503	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	g.chr7:91711855A>G	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.8075A>G	7.37:g.91711855A>G	ENSP00000351922:p.His2692Arg		Somatic				AKAP9_uc003ulf.3_Missense_Mutation_p.H2672R|AKAP9_uc003uli.3_Missense_Mutation_p.H2303R|AKAP9_uc003ulj.3_Missense_Mutation_p.H450R|AKAP9_uc003ulk.3_5'Flank	p.H2680R	NM_005751	NP_005742	WXS	Illumina GAIIx	Phase_I	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		31	8264	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2692			Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.8039A>G		.	.	.	.	.	.	.	.	.	.	A	4.939	0.174538	0.09391	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03242	4.1;4.1;4.1;4.0	4.91	3.73	0.42828	.	.	.	.	.	T	0.05227	0.0139	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.19331	0.035;0.012;0.02;0.02	B;B;B;B	0.19391	0.025;0.011;0.025;0.025	T	0.31779	-0.9931	9	0.30854	T	0.27	.	11.3676	0.49681	0.8478:0.1522:0.0:0.0	.	2684;2692;2680;2672	Q99996-6;Q99996;Q99996-2;Q99996-3	.;AKAP9_HUMAN;.;.	R	2680;2692;2692;2684;526	ENSP00000348573:H2680R;ENSP00000351922:H2692R;ENSP00000350813:H2692R;ENSP00000378042:H526R	ENSP00000348573:H2680R	H	+	2	0	AKAP9	91549791	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	1.012000	0.29924	0.980000	0.38523	-0.449000	0.05564	CAT		0.338	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		3	84	0	0	0	1	0	3	84				
ETS1	2113	broad.mit.edu	37	11	128360384	128360384	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:128360384G>C	ENST00000319397.6	-	2	479	c.170C>G	c.(169-171)aCt>aGt	p.T57S	ETS1_ENST00000531611.1_Missense_Mutation_p.T57S|ETS1_ENST00000345075.4_Missense_Mutation_p.T57S|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Missense_Mutation_p.T57S|ETS1_ENST00000392668.4_Missense_Mutation_p.T101S	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	57	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CTGTTCTTTAGTGAAACCACT	0.413																																						uc001qej.2																			0		p.N101N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(301-303)aCt>aGt		Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.							141.0	129.0	133.0					11																	128360384		2201	4297	6498	SO:0001583	missense	2113				PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128360384G>C		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.170C>G	11.37:g.128360384G>C	ENSP00000324578:p.Thr57Ser		Somatic				ETS1_uc010sbs.1_Missense_Mutation_p.T57S|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.T57S	p.T101S	NM_001143820	NP_001137292	WXS	Illumina GAIIx	Phase_I	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	387	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	57			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.302C>G	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492022	0.26774	.	.	ENSG00000134954	ENST00000345075;ENST00000392668;ENST00000531611;ENST00000319397;ENST00000526145	T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63	5.65	2.48	0.30137	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.283649	0.37955	N	0.001877	T	0.20455	0.0492	N	0.20986	0.625	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.04454	-1.0950	10	0.14656	T	0.56	.	16.2174	0.82238	0.0:0.3758:0.6242:0.0	.	57;57;101	P14921;Q96AC5;Q6N087	ETS1_HUMAN;.;.	S	57;101;57;57;57	ENSP00000340485:T57S;ENSP00000376436:T101S;ENSP00000435666:T57S;ENSP00000324578:T57S;ENSP00000433500:T57S	ENSP00000324578:T57S	T	-	2	0	ETS1	127865594	1.000000	0.71417	0.988000	0.46212	0.992000	0.81027	5.323000	0.65858	0.684000	0.31448	0.563000	0.77884	ACT		0.413	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		8	110	0	0	0	1	0	8	110				
DNM2	1785	broad.mit.edu	37	19	10930718	10930718	+	Silent	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:10930718C>T	ENST00000355667.6	+	16	1814	c.1734C>T	c.(1732-1734)ggC>ggT	p.G578G	DNM2_ENST00000389253.4_Silent_p.G578G|DNM2_ENST00000408974.4_Silent_p.G574G|MIR199A1_ENST00000385019.1_RNA|DNM2_ENST00000314646.5_Silent_p.G578G|DNM2_ENST00000359692.6_Silent_p.G574G|DNM2_ENST00000585892.1_Silent_p.G578G	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	578	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TGGAGAAGGGCTTCATGTCCA	0.572			"""F, N, Splice, Mis, O"""		ETP ALL																																	uc002mpt.2				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1732-1734)ggC>ggT		Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.							173.0	152.0	159.0					19																	10930718		2203	4300	6503	SO:0001819	synonymous_variant	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10930718C>T		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1734C>T	19.37:g.10930718C>T			Somatic				DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Silent_p.G578G|DNM2_uc010dxl.2_Silent_p.G578G|DNM2_uc002mpu.2_Silent_p.G574G|DNM2_uc002mpv.2_Silent_p.G574G|DNM2_uc002mpw.3_Silent_p.G307G|MIR199A1_uc010xlj.1_5'Flank	p.G578G	NM_001005360	NP_001005360	WXS	Illumina GAIIx	Phase_I	P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		15	1924	+			578			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Silent	SNP	ENST00000355667.6	37	c.1734C>T	CCDS45968.1																																																																																				0.572	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		20	161	0	0	0	1	0	20	161				
CGN	57530	broad.mit.edu	37	1	151501902	151501902	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:151501902G>A	ENST00000271636.7	+	11	2106	c.1973G>A	c.(1972-1974)cGg>cAg	p.R658Q	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	652	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCGACACCGGGACCGGGAG	0.612																																						uc009wmw.3																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(1972-1974)cGg>cAg		Homo sapiens cingulin (CGN), mRNA.							42.0	44.0	43.0					1																	151501902		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151501902G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1973G>A	1.37:g.151501902G>A	ENSP00000271636:p.Arg658Gln		Somatic					p.R658Q	NM_020770	NP_065821	WXS	Illumina GAIIx	Phase_I	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		10	2117	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		652			Glu-rich.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.1973G>A	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.291027	0.59976	.	.	ENSG00000143375	ENST00000271636	T	0.65364	-0.15	4.43	3.49	0.39957	.	0.130180	0.49305	N	0.000148	T	0.38585	0.1046	M	0.67953	2.075	0.32653	N	0.519158	B	0.30193	0.272	B	0.15484	0.013	T	0.39333	-0.9619	10	0.46703	T	0.11	-19.8847	10.2084	0.43126	0.0958:0.0:0.9042:0.0	.	652	Q9P2M7	CING_HUMAN	Q	658	ENSP00000271636:R658Q	ENSP00000271636:R658Q	R	+	2	0	CGN	149768526	0.906000	0.30813	0.971000	0.41717	0.983000	0.72400	3.356000	0.52269	1.194000	0.43101	0.655000	0.94253	CGG		0.612	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		3	76	0	0	0	1	0	3	76				
LPHN3	23284	broad.mit.edu	37	4	62598711	62598711	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr4:62598711G>T	ENST00000514591.1	+	7	963	c.634G>T	c.(634-636)Gta>Tta	p.V212L	LPHN3_ENST00000507625.1_Missense_Mutation_p.V280L|LPHN3_ENST00000508946.1_Missense_Mutation_p.V212L|LPHN3_ENST00000512091.2_Missense_Mutation_p.V212L|LPHN3_ENST00000504896.1_Missense_Mutation_p.V212L|LPHN3_ENST00000511324.1_Missense_Mutation_p.V280L|LPHN3_ENST00000506720.1_Missense_Mutation_p.V280L|LPHN3_ENST00000506746.1_Missense_Mutation_p.V280L|LPHN3_ENST00000514157.1_Missense_Mutation_p.V212L|LPHN3_ENST00000514996.1_Missense_Mutation_p.V212L|LPHN3_ENST00000507164.1_Missense_Mutation_p.V280L|LPHN3_ENST00000509896.1_Missense_Mutation_p.V280L|LPHN3_ENST00000508693.1_Missense_Mutation_p.V280L|LPHN3_ENST00000506700.1_Missense_Mutation_p.V212L|LPHN3_ENST00000545650.1_Missense_Mutation_p.V212L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	212	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CACAGGATTTGTAGTGTATGA	0.448																																						uc010ihh.3																			0				breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						c.(634-636)Gta>Tta		Homo sapiens latrophilin 3 (LPHN3), mRNA.							80.0	75.0	76.0					4																	62598711		1906	4122	6028	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62598711G>T	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.634G>T	4.37:g.62598711G>T	ENSP00000422533:p.Val212Leu		Somatic				LPHN3_uc003hcq.4_Missense_Mutation_p.V212L|LPHN3_uc010ihg.1_Missense_Mutation_p.V280L|LPHN3_uc003hcs.1_Missense_Mutation_p.V41L	p.V212L	NM_015236	NP_056051	WXS	Illumina GAIIx	Phase_I	Q9HAR2	LPHN3_HUMAN			4	807	+			212			Olfactomedin-like.		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.634G>T	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152704	0.78001	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.95611	0.8573	M	0.82193	2.58	0.58432	D	0.999999	D;D;P	0.69078	0.997;0.997;0.902	D;D;D	0.79108	0.992;0.992;0.927	D	0.96123	0.9086	10	0.87932	D	0	.	17.8426	0.88719	0.0:0.0:1.0:0.0	.	212;280;212	E9PE04;E7EN28;Q9HAR2-2	.;.;.	L	212;212;280;280;212;212;212;212;212;280;280;280;212;212;212;280;280;212	ENSP00000423388:V212L;ENSP00000422533:V212L;ENSP00000423787:V280L;ENSP00000425033:V280L;ENSP00000424120:V212L;ENSP00000439831:V212L;ENSP00000421476:V280L;ENSP00000424030:V280L;ENSP00000421372:V280L;ENSP00000425201:V212L;ENSP00000423434:V212L;ENSP00000421627:V212L;ENSP00000420931:V280L;ENSP00000425884:V280L;ENSP00000424258:V212L	ENSP00000280009:V212L	V	+	1	0	LPHN3	62281306	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.869000	0.99810	2.458000	0.83093	0.557000	0.71058	GTA		0.448	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			4	47	0	0	0	1	0	4	47				
SYDE1	85360	broad.mit.edu	37	19	15224522	15224522	+	Silent	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:15224522C>T	ENST00000342784.2	+	8	1987	c.1956C>T	c.(1954-1956)gcC>gcT	p.A652A	SYDE1_ENST00000600440.1_Silent_p.A585A|SYDE1_ENST00000600252.1_Silent_p.A309A	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	652					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						ACCGCTACGCCGGCGACTGGA	0.697																																						uc002nah.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						c.(1954-1956)gcC>gcT		Homo sapiens synapse defective 1, Rho GTPase, homolog 1 (C. elegans) (SYDE1), mRNA.							43.0	54.0	50.0					19																	15224522		2203	4298	6501	SO:0001819	synonymous_variant	85360				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr19:15224522C>T	BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1956C>T	19.37:g.15224522C>T			Somatic				SYDE1_uc002nai.1_Silent_p.A585A|SYDE1_uc002naj.1_Silent_p.A309A	p.A652A	NM_033025	NP_149014	WXS	Illumina GAIIx	Phase_I	Q6ZW31	SYDE1_HUMAN			7	1987	+			652					Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	ENST00000342784.2	37	c.1956C>T	CCDS12324.1																																																																																				0.697	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465666.1	NM_033025		5	108	0	0	0	1	0	5	108				
TEX101	83639	broad.mit.edu	37	19	43922526	43922526	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:43922526C>A	ENST00000598265.1	+	6	893	c.727C>A	c.(727-729)Cca>Aca	p.P243T	TEX101_ENST00000602198.1_Missense_Mutation_p.P261T|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Missense_Mutation_p.P261T	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	243						acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ATTGCTGCTGCCATCATTTAT	0.498																																						uc002owk.3																			0				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15						c.(781-783)Cca>Aca		Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.							81.0	80.0	80.0					19																	43922526		2203	4300	6503	SO:0001583	missense	83639					anchored to membrane|plasma membrane		g.chr19:43922526C>A	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.727C>A	19.37:g.43922526C>A	ENSP00000472769:p.Pro243Thr		Somatic				TEX101_uc010xwo.2_Missense_Mutation_p.P243T	p.P261T	NM_031451	NP_001123483	WXS	Illumina GAIIx	Phase_I	Q9BY14	TX101_HUMAN			8	1342	+		Prostate(69;0.0199)	243					Q7L5R2|Q9BPY7	Missense_Mutation	SNP	ENST00000598265.1	37	c.781C>A	CCDS59393.1	.	.	.	.	.	.	.	.	.	.	C	5.603	0.295973	0.10622	.	.	ENSG00000131126	ENST00000253435;ENST00000407156	T	0.09445	2.98	3.8	1.63	0.23807	.	2.930330	0.01206	N	0.007717	T	0.06781	0.0173	L	0.29908	0.895	0.09310	N	1	B;P	0.36874	0.436;0.572	B;B	0.27380	0.036;0.079	T	0.30475	-0.9977	10	0.08179	T	0.78	1.2864	5.3226	0.15889	0.0:0.6793:0.2078:0.1129	.	243;261	Q9BY14;Q9BY14-2	TX101_HUMAN;.	T	261;256	ENSP00000253435:P261T	ENSP00000253435:P261T	P	+	1	0	TEX101	48614366	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	0.176000	0.16782	0.566000	0.29273	-0.176000	0.13171	CCA		0.498	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		19	103	0	0	0	1	0	19	103				
LOC146880	146880	broad.mit.edu	37	17	62750766	62750766	+	RNA	SNP	C	C	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr17:62750766C>A	ENST00000400873.3	-	0	1847					NR_026899.1																						GCTCTTAGGGCAGGAGTCTGA	0.443																																						uc010wqc.2																			0													Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA.																																						146880							g.chr17:62750766C>A																													17.37:g.62750766C>A			Somatic								WXS	Illumina GAIIx	Phase_I					8		-									RNA	SNP	ENST00000400873.3	37	c.1848G>T		.	.	.	.	.	.	.	.	.	.	.	0.024	-1.389665	0.01185	.	.	ENSG00000215769	ENST00000400873	.	.	.	3.0	0.647	0.17796	.	0.230894	0.36893	U	0.002349	T	0.45617	0.1351	.	.	.	.	.	.	.	.	.	.	.	.	T	0.54043	-0.8352	5	0.52906	T	0.07	.	6.2462	0.20818	0.3156:0.5679:0.0:0.1165	.	.	.	.	S	74	.	ENSP00000383670:A74S	A	-	1	0	AC103810.2	60181228	0.996000	0.38824	0.463000	0.27130	0.030000	0.12068	2.579000	0.46059	0.137000	0.18759	-1.579000	0.00862	GCC		0.443	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				53	90	0	0	0	1	0	53	90				
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118			G -> D (in CWS5). {ECO:0000269|PubMed:23246288}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		26	Substitution - Missense(26)	p.G118D(26)	endometrium(11)|breast(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|prostate(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.e3-1		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							93.0	87.0	89.0					3																	178917478		1809	4071	5880	SO:0001630	splice_region_variant	5290				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178917478G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.353-1G>A	3.37:g.178917478G>A		HNSCC(19;0.045)|TSP Lung(28;0.18)	Somatic					p.G118_splice	NM_006218	NP_006209	WXS	Illumina GAIIx	Phase_I	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		3	510	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		118					Q14CW1|Q99762	Splice_Site	SNP	ENST00000263967.3	37	c.353_splice	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954561	0.53293	.	.	ENSG00000121879	ENST00000263967	T	0.46451	0.87	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58722	0.2142	M	0.63843	1.955	0.80722	D	1	D	0.61080	0.989	P	0.56398	0.797	T	0.53823	-0.8384	9	.	.	.	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	118	P42336	PK3CA_HUMAN	D	118	ENSP00000263967:G118D	.	G	+	2	0	PIK3CA	180400172	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	9.471000	0.97696	2.746000	0.94184	0.563000	0.77884	GGT		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation	11	79	0	0	0	1	0	11	79				
WRAP73	49856	broad.mit.edu	37	1	3552584	3552584	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:3552584G>A	ENST00000270708.7	-	6	600	c.527C>T	c.(526-528)aCg>aTg	p.T176M	WRAP73_ENST00000378322.3_Missense_Mutation_p.T176M	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	176						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						CTGGGTGTCCGTATCAAAATG	0.443																																						uc001ako.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(526-528)aCg>aTg		Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.							78.0	71.0	74.0					1																	3552584		2203	4300	6503	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3552584G>A	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.527C>T	1.37:g.3552584G>A	ENSP00000270708:p.Thr176Met		Somatic				WRAP73_uc001akn.3_Missense_Mutation_p.T176M|WRAP73_uc010nzi.2_3'UTR	p.T176M	NM_017818	NP_060288	WXS	Illumina GAIIx	Phase_I	Q9P2S5	WRP73_HUMAN			5	635	-			176					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.527C>T	CCDS48.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617285	0.46736	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.05855	3.39;3.38;3.39	5.4	5.4	0.78164	Six-bladed beta-propeller, TolB-like (1);	0.091342	0.85682	D	0.000000	T	0.18383	0.0441	L	0.46157	1.445	0.58432	D	0.99999	D;D	0.76494	0.998;0.999	P;P	0.62382	0.8;0.901	T	0.00121	-1.2028	10	0.54805	T	0.06	-20.8637	18.1341	0.89612	0.0:0.0:1.0:0.0	.	176;176	Q9P2S5;Q5T0D5	WRP73_HUMAN;.	M	176	ENSP00000270708:T176M;ENSP00000367573:T176M;ENSP00000416192:T176M	ENSP00000270708:T176M	T	-	2	0	WRAP73	3542444	1.000000	0.71417	0.432000	0.26747	0.982000	0.71751	6.354000	0.73036	2.515000	0.84797	0.655000	0.94253	ACG		0.443	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			3	78	0	0	0	1	0	3	78				
FNBP1L	54874	broad.mit.edu	37	1	93965084	93965084	+	Silent	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:93965084T>C	ENST00000271234.7	+	2	235	c.84T>C	c.(82-84)taT>taC	p.Y28Y	FNBP1L_ENST00000370253.2_Silent_p.Y28Y|FNBP1L_ENST00000370256.4_Silent_p.Y28Y|FNBP1L_ENST00000604705.1_Silent_p.Y28Y|FNBP1L_ENST00000260506.8_Silent_p.Y28Y	NM_001164473.2	NP_001157945.1	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	28	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				autophagy (GO:0006914)|clathrin-mediated endocytosis (GO:0072583)|membrane budding (GO:0006900)|membrane invagination (GO:0010324)|membrane tubulation (GO:0097320)|positive regulation of filopodium assembly (GO:0051491)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TGGAAAGATATGCCAAATTTG	0.308																																						uc010otk.2																			0				breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11						c.(82-84)taT>taC		Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.							50.0	49.0	50.0					1																	93965084		1818	4085	5903	SO:0001819	synonymous_variant	54874				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding	g.chr1:93965084T>C		CCDS53343.1, CCDS53344.1, CCDS60192.1	1p22.1	2008-02-05	2004-11-16	2004-11-17	ENSG00000137942	ENSG00000137942			20851	protein-coding gene	gene with protein product		608848	"""chromosome 1 open reading frame 39"""	C1orf39		14654988	Standard	NM_017737		Approved	TOCA1, FLJ20275	uc010otk.2	Q5T0N5	OTTHUMG00000010863	ENST00000271234.7:c.84T>C	1.37:g.93965084T>C			Somatic				FNBP1L_uc001dpv.3_Silent_p.Y28Y|FNBP1L_uc001dpw.3_Silent_p.Y28Y	p.Y28Y	NM_001164473	NP_001157945	WXS	Illumina GAIIx	Phase_I	Q5T0N5	FBP1L_HUMAN		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)	1	235	+		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)	28			FCH.|Induction of membrane tubulation (By similarity).		J3QSS4|Q5T0N6|Q6B097|Q6P653|Q6R4Q4|Q9NXG1	Silent	SNP	ENST00000271234.7	37	c.84T>C	CCDS53343.1																																																																																				0.308	FNBP1L-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_017737		5	21	0	0	0	1	0	5	21				
ARL3	403	broad.mit.edu	37	10	104465155	104465155	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr10:104465155G>A	ENST00000260746.5	-	2	226	c.95C>T	c.(94-96)aCt>aTt	p.T32I		NM_004311.3	NP_004302.1	P36405	ARL3_HUMAN	ADP-ribosylation factor-like 3	32					cilium morphogenesis (GO:0060271)|cytokinesis (GO:0000910)|intraciliary transport (GO:0042073)|kidney development (GO:0001822)|photoreceptor cell development (GO:0042461)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|spindle microtubule (GO:0005876)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			large_intestine(2)	2		Colorectal(252;0.122)		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)		CTTCAGAAGAGTGGTCTTGCC	0.502																																						uc001kwa.3																			0				large_intestine(2)	2						c.(94-96)aCt>aTt		Homo sapiens ADP-ribosylation factor-like 3 (ARL3), mRNA.							157.0	119.0	132.0					10																	104465155		2203	4300	6503	SO:0001583	missense	403				cell cycle|cytokinesis|small GTPase mediated signal transduction	Golgi membrane|centrosome|cytoplasmic microtubule|midbody|nucleus|photoreceptor connecting cilium|spindle microtubule	GDP binding|GTP binding|metal ion binding|microtubule binding	g.chr10:104465155G>A	U07151	CCDS7538.1	10q23.3	2014-05-09			ENSG00000138175	ENSG00000138175		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	694	protein-coding gene	gene with protein product		604695				8034651, 10072593	Standard	NM_004311		Approved	ARFL3	uc001kwa.3	P36405	OTTHUMG00000018965	ENST00000260746.5:c.95C>T	10.37:g.104465155G>A	ENSP00000260746:p.Thr32Ile		Somatic					p.T32I	NM_004311	NP_004302	WXS	Illumina GAIIx	Phase_I	P36405	ARL3_HUMAN		Epithelial(162;4.88e-09)|all cancers(201;1.29e-07)|BRCA - Breast invasive adenocarcinoma(275;0.22)	1	253	-		Colorectal(252;0.122)	32					B2R6C7|Q53X83|Q5JSM2	Missense_Mutation	SNP	ENST00000260746.5	37	c.95C>T	CCDS7538.1	.	.	.	.	.	.	.	.	.	.	G	32	5.148847	0.94603	.	.	ENSG00000138175	ENST00000260746	D	0.89810	-2.57	5.88	5.88	0.94601	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	H	0.99847	4.84	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.98886	1.0771	10	0.87932	D	0	-10.318	20.2371	0.98361	0.0:0.0:1.0:0.0	.	32	P36405	ARL3_HUMAN	I	32	ENSP00000260746:T32I	ENSP00000260746:T32I	T	-	2	0	ARL3	104455145	1.000000	0.71417	0.808000	0.32385	0.994000	0.84299	9.835000	0.99442	2.788000	0.95919	0.555000	0.69702	ACT		0.502	ARL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050088.2	NM_004311		5	108	0	0	0	1	0	5	108				
DAP3	7818	broad.mit.edu	37	1	155701824	155701824	+	Splice_Site	SNP	G	G	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:155701824G>T	ENST00000368336.5	+	11	1117	c.993G>T	c.(991-993)aaG>aaT	p.K331N	MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Splice_Site_p.K297N|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000535183.1_Splice_Site_p.K290N|DAP3_ENST00000343043.3_Splice_Site_p.K331N|DAP3_ENST00000471642.2_Splice_Site_p.K290N	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	331					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGCTGGGAAAGGTCAAGTCAA	0.388																																						uc001fls.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.e12+1		Homo sapiens death associated protein 3 (DAP3), transcript variant 3, mRNA.							38.0	38.0	38.0					1																	155701824		2203	4300	6503	SO:0001630	splice_region_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155701824G>T	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.993+1G>T	1.37:g.155701824G>T			Somatic				GON4L_uc021paz.1_Intron|DAP3_uc010pgl.2_Splice_Site_p.K290_splice|DAP3_uc010pgm.2_Splice_Site_p.K297_splice|DAP3_uc001flr.3_Splice_Site_p.K331_splice|DAP3_uc001flq.3_Splice_Site_p.K331_splice	p.K331_splice	NM_001199849	NP_001186778	WXS	Illumina GAIIx	Phase_I	P51398	RT29_HUMAN			12	1177	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		331					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Splice_Site	SNP	ENST00000368336.5	37	c.993_splice	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010918	0.93346	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.09	5.09	0.68999	.	0.108681	0.64402	D	0.000007	T	0.53190	0.1781	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.53745	0.962;0.962;0.962;0.962	P;P;P;P	0.56751	0.805;0.805;0.805;0.805	T	0.58031	-0.7708	10	0.87932	D	0	-15.5952	18.2993	0.90158	0.0:0.0:1.0:0.0	.	290;297;297;331	B4DP59;B4DY62;E7EM60;P51398	.;.;.;RT29_HUMAN	N	331;331;297;290	ENSP00000357320:K331N;ENSP00000341692:K331N;ENSP00000412605:K297N;ENSP00000445003:K290N	ENSP00000341692:K331N	K	+	3	2	DAP3	153968448	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.792000	0.69052	2.639000	0.89480	0.557000	0.71058	AAG		0.388	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632	Missense_Mutation	3	29	0	0	0	1	0	3	29				
TOR1AIP2	163590	broad.mit.edu	37	1	179815856	179815856	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:179815856A>G	ENST00000367612.3	-	6	1150	c.763T>C	c.(763-765)Ttt>Ctt	p.F255L	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.F255L	NM_145034.4	NP_659471.1	Q9H496	IFG15_HUMAN	torsin A interacting protein 2	115										cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TGGGCCAAAAAGGCCTCCAAA	0.493																																						uc001gnl.3																			0		p.A254V(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						c.(763-765)Ttt>Ctt		Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.							51.0	59.0	56.0					1																	179815856		2203	4300	6503	SO:0001583	missense	163590					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:179815856A>G		CCDS1334.1	1q25.2	2012-02-09			ENSG00000169905	ENSG00000169905			24055	protein-coding gene	gene with protein product		614513				15767459	Standard	NM_145034		Approved	LULL1, NET9, IFRG15	uc001gnk.3	Q8NFQ8	OTTHUMG00000035265	ENST00000367612.3:c.763T>C	1.37:g.179815856A>G	ENSP00000356584:p.Phe255Leu		Somatic				TOR1AIP2_uc001gnk.3_Missense_Mutation_p.F255L	p.F255L	NM_001199260	NP_001186189	WXS	Illumina GAIIx	Phase_I	Q8NFQ8	TOIP2_HUMAN			6	1577	-			255					Q05BU2	Missense_Mutation	SNP	ENST00000367612.3	37	c.763T>C	CCDS1334.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.887429	0.91814	.	.	ENSG00000169905	ENST00000367612	T	0.34667	1.35	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.83012	2.62	0.53688	D	0.999974	D	0.89917	1.0	D	0.91635	0.999	T	0.70015	-0.4988	10	0.87932	D	0	-13.6454	15.2538	0.73568	1.0:0.0:0.0:0.0	.	255	Q8NFQ8	TOIP2_HUMAN	L	255	ENSP00000356584:F255L	ENSP00000356584:F255L	F	-	1	0	TOR1AIP2	178082479	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.851000	0.86920	2.084000	0.62774	0.533000	0.62120	TTT		0.493	TOR1AIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085304.1	NM_145034		3	130	0	0	0	1	0	3	130				
MYBPC2	4606	broad.mit.edu	37	19	50944246	50944246	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr19:50944246A>G	ENST00000357701.5	+	8	733	c.682A>G	c.(682-684)Aaa>Gaa	p.K228E		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	228					cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGAGTACGAGAAAATCGCCTT	0.542																																						uc002psf.2																			0				breast(1)	1						c.(682-684)Aaa>Gaa		Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.							42.0	45.0	44.0					19																	50944246		2091	4246	6337	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50944246A>G		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.682A>G	19.37:g.50944246A>G	ENSP00000350332:p.Lys228Glu		Somatic					p.K228E	NM_004533	NP_004524	WXS	Illumina GAIIx	Phase_I	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	7	733	+		all_neural(266;0.057)	228					A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.682A>G	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	.	15.03	2.711968	0.48517	.	.	ENSG00000086967	ENST00000357701	T	0.62105	0.05	3.33	3.33	0.38152	.	0.839991	0.09491	U	0.794934	T	0.57636	0.2067	L	0.47716	1.5	0.29094	N	0.881873	B	0.34372	0.451	B	0.41946	0.371	T	0.51529	-0.8694	10	0.19147	T	0.46	.	7.66	0.28398	0.6402:0.3598:0.0:0.0	.	228	Q14324	MYPC2_HUMAN	E	228	ENSP00000350332:K228E	ENSP00000350332:K228E	K	+	1	0	MYBPC2	55636058	0.831000	0.29352	0.989000	0.46669	0.961000	0.63080	1.667000	0.37471	1.765000	0.52091	0.248000	0.18094	AAA		0.542	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		5	27	0	0	0	1	0	5	27				
MIS18BP1	55320	broad.mit.edu	37	14	45687540	45687540	+	Silent	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:45687540T>C	ENST00000310806.4	-	12	3245	c.2787A>G	c.(2785-2787)aaA>aaG	p.K929K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	929	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.K929K(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCTGGGATCCTTTTCCTCTGG	0.438																																						uc001wwf.3																			1	Substitution - coding silent(1)	p.K929K(2)	lung(1)	NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2785-2787)aaA>aaG		Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.							135.0	131.0	132.0					14																	45687540		2203	4300	6503	SO:0001819	synonymous_variant	55320				CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45687540T>C	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2787A>G	14.37:g.45687540T>C			Somatic					p.K929K	NM_018353	NP_060823	WXS	Illumina GAIIx	Phase_I	Q6P0N0	M18BP_HUMAN			11	3246	-			929			SANT.		D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Silent	SNP	ENST00000310806.4	37	c.2787A>G	CCDS9684.1																																																																																				0.438	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			3	172	0	0	0	1	0	3	172				
Unknown	0	broad.mit.edu	37	1	16976147	16976147	+	IGR	SNP	T	T	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:16976147T>G								CROCCP2 (15093 upstream) : RNU1-3 (17132 downstream)																							GCCTGCCGCCTGAATGATATG	0.592																																						uc010och.2																			0													Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																																				SO:0001628	intergenic_variant	11209							g.chr1:16976147T>G																													1.37:g.16976147T>G			Somatic				MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript				WXS	Illumina GAIIx	Phase_I					11		+									RNA	SNP		37	c.2088T>G																																																																																				0	0.592									5	213	0	0	0	1	0	5	213				
TROVE2	6738	broad.mit.edu	37	1	193038712	193038712	+	Silent	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:193038712C>T	ENST00000367446.3	+	2	738	c.528C>T	c.(526-528)ggC>ggT	p.G176G	TROVE2_ENST00000367443.1_Silent_p.G176G|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000367445.3_Silent_p.G176G|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000400968.2_Silent_p.G176G|TROVE2_ENST00000367441.1_Silent_p.G176G|TROVE2_ENST00000367444.3_Silent_p.G176G	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	176	RNA-binding. {ECO:0000250}.|TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						AGAGAAATGGCTGGTCTCACA	0.453																																						uc001gss.3																			0				biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						c.(526-528)ggC>ggT		Homo sapiens TROVE domain family, member 2 (TROVE2), transcript variant 5, mRNA.							75.0	73.0	74.0					1																	193038712		1897	4117	6014	SO:0001819	synonymous_variant	6738				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	RNA binding|protein binding	g.chr1:193038712C>T	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.528C>T	1.37:g.193038712C>T			Somatic				TROVE2_uc001gsu.2_Intron|TROVE2_uc001gsv.2_Silent_p.G176G|TROVE2_uc009wyp.3_Silent_p.G176G|TROVE2_uc001gsw.3_Silent_p.G176G|TROVE2_uc009wyq.3_Silent_p.G176G|TROVE2_uc001gsx.2_Silent_p.G176G	p.G176G	NM_001173524	NP_004591	WXS	Illumina GAIIx	Phase_I	P10155	RO60_HUMAN			1	904	+			176			TROVE.		B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	Silent	SNP	ENST00000367446.3	37	c.528C>T	CCDS1379.1																																																																																				0.453	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086688.1	NM_004600		3	100	0	0	0	1	0	3	100				
OR5AS1	219447	broad.mit.edu	37	11	55798723	55798723	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr11:55798723T>C	ENST00000313555.1	+	1	829	c.829T>C	c.(829-831)Ttt>Ctt	p.F277L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	277						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGTGGCAGTGTTTTATACTGT	0.378																																						uc010riw.2																			0		p.F277Y(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(829-831)Ttt>Ctt		Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.							76.0	69.0	72.0					11																	55798723		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798723T>C	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.829T>C	11.37:g.55798723T>C	ENSP00000324111:p.Phe277Leu		Somatic					p.F277L	NM_001001921	NP_001001921	WXS	Illumina GAIIx	Phase_I	Q8N127	O5AS1_HUMAN			0	829	+	Esophageal squamous(21;0.00693)		277					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.829T>C	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856140	0.32791	.	.	ENSG00000181785	ENST00000313555	T	0.00032	8.88	5.0	5.0	0.66597	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34338	U	0.004053	T	0.00144	0.0004	L	0.31926	0.97	0.09310	N	1	B	0.28605	0.217	B	0.34991	0.193	T	0.29701	-1.0003	10	0.72032	D	0.01	.	4.5333	0.12015	0.1715:0.0918:0.0:0.7367	.	277	Q8N127	O5AS1_HUMAN	L	277	ENSP00000324111:F277L	ENSP00000324111:F277L	F	+	1	0	OR5AS1	55555299	0.000000	0.05858	0.881000	0.34555	0.677000	0.39632	-0.134000	0.10436	1.865000	0.54081	0.472000	0.43445	TTT		0.378	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		36	43	0	0	0	1	0	36	43				
SYNE2	23224	broad.mit.edu	37	14	64457230	64457230	+	Silent	SNP	A	A	G			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr14:64457230A>G	ENST00000344113.4	+	20	2627	c.2415A>G	c.(2413-2415)caA>caG	p.Q805Q	SYNE2_ENST00000554584.1_Silent_p.Q805Q|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Silent_p.Q805Q	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	805					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGTCCTTTCAACATGTTCTCA	0.358																																						uc001xgl.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(2413-2415)caA>caG		Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.							109.0	106.0	106.0					14																	64457230		1839	4102	5941	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	g.chr14:64457230A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2415A>G	14.37:g.64457230A>G			Somatic				SYNE2_uc001xgm.3_Silent_p.Q805Q|SYNE2_uc021ruh.1_Silent_p.Q805Q	p.Q805Q	NM_182914	NP_878918	WXS	Illumina GAIIx	Phase_I	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	19	2645	+			805					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.2415A>G	CCDS41963.1																																																																																				0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		7	169	0	0	0	1	0	7	169				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		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.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	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)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(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						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	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.chr7:140453136A>T	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.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		55	67	0	0	0	1	0	55	67				
NRXN1	9378	broad.mit.edu	37	2	50780088	50780088	+	Missense_Mutation	SNP	G	G	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr2:50780088G>T	ENST00000406316.2	-	9	2872	c.1396C>A	c.(1396-1398)Cat>Aat	p.H466N	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.H458N|NRXN1_ENST00000405472.3_Missense_Mutation_p.H458N|NRXN1_ENST00000401669.2_Missense_Mutation_p.H466N|NRXN1_ENST00000404971.1_Missense_Mutation_p.H506N|NRXN1_ENST00000406859.3_Missense_Mutation_p.H466N	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	466	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACCACTCCATGGATCTTCATC	0.413																																						uc021vhg.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(1516-1518)Cat>Aat		Homo sapiens neurexin 1 (NRXN1), transcript variant alpha2, mRNA.							132.0	125.0	127.0					2																	50780088		1885	4126	6011	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50780088G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1396C>A	2.37:g.50780088G>T	ENSP00000384311:p.His466Asn		Somatic				NRXN1_uc002rxb.4_Missense_Mutation_p.H138N|NRXN1_uc021vhh.1_Missense_Mutation_p.H466N|NRXN1_uc021vhi.1_Missense_Mutation_p.H502N|NRXN1_uc021vhj.1_Missense_Mutation_p.H462N|NRXN1_uc002rxc.1_Non-coding_Transcript	p.H506N	NM_001135659	NP_001129131	WXS	Illumina GAIIx	Phase_I	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		8	2437	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	466			Laminin G-like 3.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1516C>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.378526	0.24944	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.70631	0.22;0.18;-0.5;-0.39;-0.1;0.04	5.72	5.72	0.89469	.	0.211060	0.48767	D	0.000162	T	0.59636	0.2208	N	0.19112	0.55	0.23724	N	0.997016	B;B;B	0.14438	0.006;0.01;0.003	B;B;B	0.12156	0.007;0.005;0.005	T	0.42464	-0.9450	10	0.27785	T	0.31	.	19.877	0.96880	0.0:0.0:1.0:0.0	.	506;466;458	Q9ULB1-3;F8WB18;A7E294	.;.;.	N	506;466;458;466;507;458;466	ENSP00000385142:H506N;ENSP00000384311:H466N;ENSP00000434015:H458N;ENSP00000385017:H466N;ENSP00000385434:H458N;ENSP00000385681:H466N	ENSP00000385017:H466N	H	-	1	0	NRXN1	50633592	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.630000	0.61297	2.696000	0.92011	0.650000	0.86243	CAT		0.413	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	156	0	0	0	1	0	4	156				
CDC42EP4	23580	broad.mit.edu	37	17	71281678	71281678	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr17:71281678C>T	ENST00000335793.3	-	2	1356	c.962G>A	c.(961-963)cGc>cAc	p.R321H	CDC42EP4_ENST00000581014.1_Silent_p.A53A|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.R251H			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	321					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			GGCAGGGCTGCGCTCCTCCAG	0.672																																						uc002jjn.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(961-963)cGc>cAc		Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.							38.0	45.0	42.0					17																	71281678		2203	4300	6503	SO:0001583	missense	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281678C>T	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.962G>A	17.37:g.71281678C>T	ENSP00000338258:p.Arg321His		Somatic				CDC42EP4_uc002jjo.3_Missense_Mutation_p.R321H|CDC42EP4_uc002jjp.1_Missense_Mutation_p.R251H|CDC42EP4_uc021ucn.1_Missense_Mutation_p.R321H	p.R321H	NM_012121	NP_036253	WXS	Illumina GAIIx	Phase_I	Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		1	1109	-			321					B3KUS7|O95828|Q96FT3	Missense_Mutation	SNP	ENST00000335793.3	37	c.962G>A	CCDS11695.1	.	.	.	.	.	.	.	.	.	.	C	17.91	3.504839	0.64410	.	.	ENSG00000179604	ENST00000335793;ENST00000439510	T;T	0.36699	1.26;1.24	4.29	4.29	0.51040	.	0.214022	0.31188	N	0.008083	T	0.43077	0.1231	M	0.63428	1.95	0.80722	D	1	D;D	0.64830	0.994;0.988	P;P	0.51324	0.666;0.517	T	0.34576	-0.9823	10	0.46703	T	0.11	-21.0323	9.4545	0.38747	0.0:0.8999:0.0:0.1001	.	251;321	B3KUS7;Q9H3Q1	.;BORG4_HUMAN	H	321;251	ENSP00000338258:R321H;ENSP00000404270:R251H	ENSP00000338258:R321H	R	-	2	0	CDC42EP4	68793273	0.973000	0.33851	1.000000	0.80357	0.869000	0.49853	-0.083000	0.11286	2.229000	0.72834	0.484000	0.47621	CGC		0.672	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		3	83	0	0	0	1	0	3	83				
ANKS4B	257629	broad.mit.edu	37	16	21261647	21261647	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr16:21261647G>A	ENST00000311620.5	+	2	833	c.760G>A	c.(760-762)Gca>Aca	p.A254T		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	254					response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CCAGTTGTCAGCAGAGGAGGA	0.488																																						uc010bwp.1																			0				NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20						c.(760-762)Gca>Aca		Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.							104.0	112.0	109.0					16																	21261647		2089	4212	6301	SO:0001583	missense	257629							g.chr16:21261647G>A	AK096138	CCDS42130.1	16p12.2	2013-01-10				ENSG00000175311		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26795	protein-coding gene	gene with protein product		609901					Standard	NM_145865		Approved	FLJ38819, HARP	uc010bwp.1	Q8N8V4		ENST00000311620.5:c.760G>A	16.37:g.21261647G>A	ENSP00000308772:p.Ala254Thr		Somatic				CRYM_uc010bwq.1_Intron	p.A254T	NM_145865	NP_665872	WXS	Illumina GAIIx	Phase_I	Q8N8V4	ANS4B_HUMAN		GBM - Glioblastoma multiforme(48;0.0565)	1	803	+			254						Missense_Mutation	SNP	ENST00000311620.5	37	c.760G>A	CCDS42130.1	.	.	.	.	.	.	.	.	.	.	G	9.580	1.123353	0.20959	.	.	ENSG00000175311	ENST00000311620	T	0.43294	0.95	5.77	3.82	0.43975	.	1.097350	0.06732	N	0.776849	T	0.39410	0.1077	L	0.51422	1.61	0.09310	N	0.999999	B	0.23937	0.094	B	0.16722	0.016	T	0.30937	-0.9961	10	0.23302	T	0.38	3.2356	11.2026	0.48749	0.1499:0.0:0.8501:0.0	.	254	Q8N8V4	ANS4B_HUMAN	T	254	ENSP00000308772:A254T	ENSP00000308772:A254T	A	+	1	0	ANKS4B	21169148	0.498000	0.26075	0.232000	0.24009	0.760000	0.43138	2.080000	0.41586	0.792000	0.33850	0.591000	0.81541	GCA		0.488	ANKS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436535.1	NM_145865		3	102	0	0	0	1	0	3	102				
PPP1R8	5511	broad.mit.edu	37	1	28176693	28176693	+	Silent	SNP	C	C	T			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr1:28176693C>T	ENST00000311772.5	+	7	850	c.792C>T	c.(790-792)taC>taT	p.Y264Y	PPP1R8_ENST00000373931.4_Silent_p.Y122Y|PPP1R8_ENST00000236412.7_Silent_p.Y40Y|PPP1R8_ENST00000486634.1_3'UTR	NM_014110.4	NP_054829.2	Q12972	PP1R8_HUMAN	protein phosphatase 1, regulatory subunit 8	264					cell proliferation (GO:0008283)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|protein phosphatase type 1 regulator activity (GO:0008599)|protein serine/threonine phosphatase inhibitor activity (GO:0004865)|ribonuclease E activity (GO:0008995)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGACTCTACGGGGGCCTGC	0.617																																						uc001bov.2																			0				breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(790-792)taC>taT		Homo sapiens protein phosphatase 1, regulatory subunit 8 (PPP1R8), transcript variant 1, mRNA.							106.0	115.0	112.0					1																	28176693		2203	4300	6503	SO:0001819	synonymous_variant	5511				RNA catabolic process|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|spliceosomal complex	DNA binding|RNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity	g.chr1:28176693C>T	AF061959	CCDS311.1, CCDS312.1, CCDS313.1	1p35.3	2012-04-17	2011-10-04		ENSG00000117751	ENSG00000117751		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9296	protein-coding gene	gene with protein product	"""RNase E"", ""nuclear subunit of PP-1"", ""nuclear inhibitor of protein phosphatase-1"", ""activator of RNA decay"", ""protein phosphatase 1 regulatory subunit 8"""	602636	"""protein phosphatase 1, regulatory (inhibitor) subunit 8"""			7524097, 8473324	Standard	NM_014110		Approved	ard-1, NIPP-1, PRO2047, ARD1, NIPP1	uc001bov.2	Q12972	OTTHUMG00000003734	ENST00000311772.5:c.792C>T	1.37:g.28176693C>T			Somatic				PPP1R8_uc009vtd.2_Silent_p.Y40Y|PPP1R8_uc001bow.2_Silent_p.Y122Y|PPP1R8_uc001box.2_Silent_p.Y40Y|PPP1R8_uc021ojy.1_Silent_p.Y122Y	p.Y264Y	NM_014110	NP_612568	WXS	Illumina GAIIx	Phase_I	Q12972	PP1R8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)	6	887	+		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	264					Q5TEJ2|Q5TEJ4|Q5TIF2|Q6PKF6|Q9UBH1|Q9UBZ0	Silent	SNP	ENST00000311772.5	37	c.792C>T	CCDS311.1																																																																																				0.617	PPP1R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010528.1	NM_014110		19	180	0	0	0	1	0	19	180				
CALD1	800	broad.mit.edu	37	7	134618477	134618477	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr7:134618477delG	ENST00000361675.2	+	5	1186	c.957delG	c.(955-957)gagfs	p.E321fs	CALD1_ENST00000422748.1_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000424922.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	321	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						ggatgagggaggaagagaaaa	0.488																																						uc003vrz.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						c.(955-957)gagfs		Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.							105.0	117.0	113.0					7																	134618477		2198	4292	6490	SO:0001589	frameshift_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134618477delG	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.957delG	7.37:g.134618477delG	ENSP00000354826:p.Glu321fs		Somatic				CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Frame_Shift_Del_p.E183fs	p.E319fs	NM_033138	NP_149129	WXS	Illumina GAIIx	Phase_I	Q05682	CALD1_HUMAN			4	1423	+			319			3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Frame_Shift_Del	DEL	ENST00000361675.2	37	c.957delG	CCDS5835.1																																																																																				0.488	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		2	4						2	4	---	---	---	---
CPEB3	22849	broad.mit.edu	37	10	94000047	94000049	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FE-A3PC-01A-11D-A21Z-08	TCGA-FE-A3PC-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42164290-bbcb-4fc1-8395-a6428bda6fec	962bb1b7-286c-4ba2-a483-8bf34a6ef952	g.chr10:94000047_94000049delGCT	ENST00000265997.4	-	2	231_233	c.59_61delAGC	c.(58-63)cagcgg>cgg	p.Q20del	CPEB3_ENST00000412050.4_In_Frame_Del_p.Q20del	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	20	Gln-rich.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				tgctgctgccgctgctgctgctg	0.591																																						uc001khu.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(58-63)cagcgg>cgg		Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.			,	12,3300		1,10,1645					,	-4.3	0.8			7	17,6581		2,13,3284	no	coding,coding	CPEB3	NM_014912.4,NM_001178137.1	,	3,23,4929	A1A1,A1R,RR		0.2577,0.3623,0.2926	,	,		29,9881				SO:0001651	inframe_deletion	22849						RNA binding|nucleotide binding	g.chr10:94000047_94000049delGCT	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.59_61delAGC	10.37:g.94000056_94000058delGCT	ENSP00000265997:p.Gln20del		Somatic				CPEB3_uc001khv.2_In_Frame_Del_p.Q20del|CPEB3_uc001khw.2_In_Frame_Del_p.Q20del|CPEB3_uc010qnn.2_In_Frame_Del_p.Q20del	p.Q20del	NM_014912	NP_055727	WXS	Illumina GAIIx	Phase_I	Q8NE35	CPEB3_HUMAN			0	70_72	-		Colorectal(252;0.0869)	20			Gln-rich.		Q5T389|Q9NQJ7|Q9Y2E9	In_Frame_Del	DEL	ENST00000265997.4	37	c.59_61delAGC	CCDS31246.1																																																																																				0.591	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		2	4						2	4	---	---	---	---
