#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
ZMYM1	79830	broad.mit.edu	37	1	35580838	35580841	+	Frame_Shift_Del	DEL	TCAG	TCAG	-	rs190358882	byFrequency	TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:35580838_35580841delTCAG	ENST00000373330.1	+	11	3581_3584	c.3407_3410delTCAG	c.(3406-3411)atcagtfs	p.IS1136fs	ZMYM1_ENST00000359858.4_Frame_Shift_Del_p.IS1136fs|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	1136						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAAAGTTTATCAGTCAGATGAAA	0.348																																						uc001bym.2																			0					0						c.(3406-3411)ATCAGTfs		zinc finger, MYM domain containing 1																																				SO:0001589	frameshift_variant	79830					nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	g.chr1:35580838_35580841delTCAG	AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.3407_3410delTCAG	1.37:g.35580842_35580845delTCAG	ENSP00000362427:p.Ile1136fs					ZMYM1_uc001byn.2_Frame_Shift_Del_p.I1136fs|ZMYM1_uc010ohu.1_Frame_Shift_Del_p.I1117fs|ZMYM1_uc001byo.2_Frame_Shift_Del_p.I776fs|ZMYM1_uc009vut.2_Frame_Shift_Del_p.I1061fs	p.I1136fs	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN			11	3555_3558	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1136_1137					D3DPR7|Q7Z3Q4	Frame_Shift_Del	DEL	ENST00000373330.1	37	c.3407_3410delTCAG	CCDS41302.1																																																																																				0.348	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1	NM_024772	
GNG5	2787	broad.mit.edu	37	1	84967630	84967630	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:84967630C>A	ENST00000370641.3	-	2	578	c.105G>T	c.(103-105)ttG>ttT	p.L35F	GNG5_ENST00000370645.4_Missense_Mutation_p.L35F|GNG5_ENST00000487806.1_5'UTR			P63218	GBG5_HUMAN	guanine nucleotide binding protein (G protein), gamma 5	35					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|PDZ domain binding (GO:0030165)|signal transducer activity (GO:0004871)			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AGAACTGTTTCAAGTCTGCAG	0.433																																						uc001djw.3																			0					0						c.(103-105)TTG>TTT		guanine nucleotide binding protein (G protein),							42.0	47.0	45.0					1																	84967630		2203	4300	6503	SO:0001583	missense	2787				cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity	g.chr1:84967630C>A	AF038955	CCDS696.1	1p22	2014-05-14			ENSG00000174021	ENSG00000174021			4408	protein-coding gene	gene with protein product		600874				7606925	Standard	NM_005274		Approved		uc001djw.4	P63218	OTTHUMG00000009858	ENST00000370641.3:c.105G>T	1.37:g.84967630C>A	ENSP00000359675:p.Leu35Phe						p.L35F	NM_005274	NP_005265	P63218	GBG5_HUMAN		all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)	3	459	-			35					B2R5A0|P30670|Q5VX54|Q61015	Missense_Mutation	SNP	ENST00000370641.3	37	c.105G>T	CCDS696.1	.	.	.	.	.	.	.	.	.	.	C	16.45	3.127723	0.56721	.	.	ENSG00000174021	ENST00000370645;ENST00000370641	T;T	0.35605	1.3;1.3	5.63	2.74	0.32292	G-protein gamma domain (5);	0.000000	0.64402	D	0.000006	T	0.25975	0.0633	.	.	.	0.52501	D	0.999952	B	0.26400	0.148	B	0.39771	0.309	T	0.14531	-1.0469	9	0.66056	D	0.02	.	11.2028	0.48751	0.0:0.7999:0.0:0.2001	.	35	P63218	GBG5_HUMAN	F	35	ENSP00000359679:L35F;ENSP00000359675:L35F	ENSP00000359675:L35F	L	-	3	2	GNG5	84740218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.439000	0.35013	0.415000	0.25817	0.655000	0.94253	TTG		0.433	GNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027240.1	NM_005274	
SPAG17	200162	broad.mit.edu	37	1	118539227	118539227	+	Missense_Mutation	SNP	A	A	T	rs548598350		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:118539227A>T	ENST00000336338.5	-	33	4981	c.4916T>A	c.(4915-4917)gTc>gAc	p.V1639D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1639						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTACCTGGGGACATGTTCACC	0.299													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17823	0.0		0.0	False		,,,				2504	0.0					uc001ehk.2																			0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4915-4917)GTC>GAC		sperm associated antigen 17							78.0	80.0	79.0					1																	118539227		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118539227A>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4916T>A	1.37:g.118539227A>T	ENSP00000337804:p.Val1639Asp						p.V1639D	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	33	4984	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1639					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4916T>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.866520	0.72065	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.22539	1.95	5.2	5.2	0.72013	.	0.243315	0.40728	N	0.001023	T	0.31765	0.0807	M	0.61703	1.905	0.47276	D	0.999371	D	0.76494	0.999	D	0.72075	0.976	T	0.09079	-1.0691	10	0.87932	D	0	.	11.3873	0.49793	1.0:0.0:0.0:0.0	.	1639	Q6Q759	SPG17_HUMAN	D	1639;119	ENSP00000337804:V1639D	ENSP00000337804:V1639D	V	-	2	0	SPAG17	118340750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.400000	0.44504	2.174000	0.68829	0.533000	0.62120	GTC		0.299	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
BCL9	607	broad.mit.edu	37	1	147092093	147092093	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:147092093T>G	ENST00000234739.3	+	8	2872	c.2132T>G	c.(2131-2133)aTg>aGg	p.M711R		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	711	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAGTTTGGGATGGTTCCTAGT	0.527			T	"""IGH@, IGL@"""	B-ALL																																	uc001epq.2				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	IGH@|IGL@		B-ALL		0				ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(2131-2133)ATG>AGG		B-cell CLL/lymphoma 9							46.0	48.0	47.0					1																	147092093		2203	4300	6503	SO:0001583	missense	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147092093T>G	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2132T>G	1.37:g.147092093T>G	ENSP00000234739:p.Met711Arg					BCL9_uc010ozr.1_Missense_Mutation_p.M637R	p.M711R	NM_004326	NP_004317	O00512	BCL9_HUMAN			8	2872	+	all_hematologic(923;0.115)		711			Pro-rich.		Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	c.2132T>G	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827822	0.32329	.	.	ENSG00000116128	ENST00000234739	T	0.50001	0.76	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.29524	0.0736	L	0.36672	1.1	0.80722	D	1	P;P	0.44578	0.838;0.838	B;B	0.41813	0.367;0.367	T	0.22977	-1.0201	10	0.62326	D	0.03	-6.6894	14.7066	0.69194	0.0:0.0:0.0:1.0	.	711;711	Q1JQ81;O00512	.;BCL9_HUMAN	R	711	ENSP00000234739:M711R	ENSP00000234739:M711R	M	+	2	0	BCL9	145558717	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.868000	0.87116	2.070000	0.61991	0.482000	0.46254	ATG		0.527	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
KPRP	448834	broad.mit.edu	37	1	152732521	152732521	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:152732521T>G	ENST00000606109.1	+	1	485	c.457T>G	c.(457-459)Tat>Gat	p.Y153D	KPRP_ENST00000368773.1_Missense_Mutation_p.Y153D			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	153	Gln-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCCAGAACTATGTACCCTG	0.512																																						uc001fal.1																			0				ovary(4)|pancreas(1)	5						c.(457-459)TAT>GAT		keratinocyte proline-rich protein							123.0	123.0	123.0					1																	152732521		2203	4300	6503	SO:0001583	missense	448834					cytoplasm		g.chr1:152732521T>G	AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786			31823	protein-coding gene	gene with protein product		613260	"""chromosome 1 open reading frame 45"""	C1orf45		16297201	Standard	NM_001025231		Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.457T>G	1.37:g.152732521T>G	ENSP00000475216:p.Tyr153Asp						p.Y153D	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	515	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		153			Gln-rich.			Missense_Mutation	SNP	ENST00000606109.1	37	c.457T>G	CCDS30862.1	.	.	.	.	.	.	.	.	.	.	T	13.88	2.369970	0.42003	.	.	ENSG00000203786	ENST00000368773	T	0.24350	1.86	5.63	5.63	0.86233	.	0.162082	0.29668	N	0.011505	T	0.35335	0.0928	M	0.65975	2.015	0.30733	N	0.746969	D	0.69078	0.997	D	0.66351	0.943	T	0.33137	-0.9880	10	0.87932	D	0	-16.0441	12.5318	0.56120	0.0:0.0:0.0:1.0	.	153	Q5T749	KPRP_HUMAN	D	153	ENSP00000357762:Y153D	ENSP00000357762:Y153D	Y	+	1	0	KPRP	150999145	0.916000	0.31088	0.257000	0.24404	0.204000	0.24138	3.611000	0.54132	2.283000	0.76528	0.533000	0.62120	TAT		0.512	KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034522.2	NM_001025231	
NPR1	4881	broad.mit.edu	37	1	153657481	153657481	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:153657481G>A	ENST00000368680.3	+	8	1998	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	509					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAGCTGTGGCGGGTGCGCTGG	0.647																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3																			0				ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(1525-1527)CGG>CAG		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						67.0	66.0	66.0					1																	153657481		2203	4300	6503	SO:0001583	missense	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153657481G>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1526G>A	1.37:g.153657481G>A	ENSP00000357669:p.Arg509Gln					NPR1_uc010pdz.1_Missense_Mutation_p.R255Q|NPR1_uc010pea.1_Missense_Mutation_p.R13Q	p.R509Q	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		8	1947	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		509			Cytoplasmic (Potential).		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	c.1526G>A	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907099	0.92107	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.44083	0.93	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000003	T	0.44829	0.1312	M	0.79614	2.46	0.80722	D	1	D;P	0.63046	0.992;0.92	P;B	0.53185	0.72;0.327	T	0.36962	-0.9726	10	0.20046	T	0.44	.	15.5406	0.76043	0.0:0.0:1.0:0.0	.	14;509	B7Z4Y7;P16066	.;ANPRA_HUMAN	Q	509;14	ENSP00000357669:R509Q	ENSP00000357669:R509Q	R	+	2	0	NPR1	151924105	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.191000	0.94940	2.525000	0.85131	0.655000	0.94253	CGG		0.647	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	
C1orf198	84886	broad.mit.edu	37	1	230979428	230979428	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:230979428C>T	ENST00000366663.5	-	3	739	c.599G>A	c.(598-600)gGg>gAg	p.G200E	C1orf198_ENST00000523410.1_Missense_Mutation_p.G70E|C1orf198_ENST00000470540.1_Missense_Mutation_p.G162E|C1orf198_ENST00000427697.2_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	200						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGGCCCCTCCCCTCGGGACCG	0.632																																						uc001hub.2																			0					0						c.(598-600)GGG>GAG		hypothetical protein LOC84886 isoform 1							82.0	82.0	82.0					1																	230979428		2203	4300	6503	SO:0001583	missense	84886							g.chr1:230979428C>T	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.599G>A	1.37:g.230979428C>T	ENSP00000355623:p.Gly200Glu					C1orf198_uc009xfh.1_Missense_Mutation_p.G70E|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.G162E	p.G200E	NM_032800	NP_116189	Q9H425	CA198_HUMAN			3	643	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	200					A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	c.599G>A	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599605	0.46318	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.29917	1.57;1.57;1.55	3.68	2.64	0.31445	.	0.299728	0.27411	U	0.019492	T	0.26846	0.0657	L	0.44542	1.39	0.25061	N	0.991068	P	0.49447	0.924	P	0.44990	0.466	T	0.08411	-1.0723	10	0.30078	T	0.28	-20.2407	10.0774	0.42368	0.377:0.623:0.0:0.0	.	200	Q9H425	CA198_HUMAN	E	200;162;70;157	ENSP00000355623:G200E;ENSP00000428172:G162E;ENSP00000430967:G70E	ENSP00000355623:G200E	G	-	2	0	C1orf198	229046051	0.996000	0.38824	0.971000	0.41717	0.721000	0.41392	3.809000	0.55606	1.597000	0.50072	0.313000	0.20887	GGG		0.632	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800	
OR2M3	127062	broad.mit.edu	37	1	248366725	248366725	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:248366725C>A	ENST00000456743.1	+	1	394	c.356C>A	c.(355-357)gCt>gAt	p.A119D		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGTTATGGCTTATGACCGC	0.463																																						uc010pzg.1																			0				ovary(1)|skin(1)	2						c.(355-357)GCT>GAT		olfactory receptor, family 2, subfamily M,							230.0	234.0	233.0					1																	248366725		2203	4300	6503	SO:0001583	missense	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366725C>A		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.356C>A	1.37:g.248366725C>A	ENSP00000389625:p.Ala119Asp						p.A119D	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	356	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		119			Helical; Name=3; (Potential).		B9EH06|Q6IEY0	Missense_Mutation	SNP	ENST00000456743.1	37	c.356C>A	CCDS31107.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234596	0.58886	.	.	ENSG00000228198	ENST00000456743	T	0.56103	0.48	2.55	1.61	0.23674	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31976	U	0.006763	T	0.73961	0.3654	H	0.96333	3.805	0.28118	N	0.930728	P	0.43578	0.811	P	0.55087	0.768	T	0.69734	-0.5065	10	0.87932	D	0	.	9.0676	0.36473	0.0:0.8818:0.0:0.1182	.	119	Q8NG83	OR2M3_HUMAN	D	119	ENSP00000389625:A119D	ENSP00000389625:A119D	A	+	2	0	OR2M3	246433348	0.990000	0.36364	0.420000	0.26596	0.021000	0.10359	3.014000	0.49590	0.398000	0.25338	-0.491000	0.04670	GCT		0.463	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689	
CDHR1	92211	broad.mit.edu	37	10	85962739	85962739	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr10:85962739G>T	ENST00000372117.3	+	8	746	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C	CDHR1_ENST00000332904.3_Missense_Mutation_p.G215C|CDHR1_ENST00000440770.2_5'UTR	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCTGCAGGATGGCGGTGGGAG	0.557																																						uc001kcv.2																			0				ovary(1)	1						c.(643-645)GGC>TGC		protocadherin 21 precursor							147.0	125.0	132.0					10																	85962739		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85962739G>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.643G>T	10.37:g.85962739G>T	ENSP00000361189:p.Gly215Cys					CDHR1_uc001kcw.2_Missense_Mutation_p.G215C|CDHR1_uc009xst.2_5'UTR	p.G215C	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			8	643	+			215			Cadherin 2.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.643G>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131917	0.77662	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.01821	4.62;4.62	4.85	4.85	0.62838	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.12220	0.0297	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00710	-1.1599	10	0.48119	T	0.1	-20.1818	16.8983	0.86106	0.0:0.0:1.0:0.0	.	215;215	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	C	215	ENSP00000331063:G215C;ENSP00000361189:G215C	ENSP00000331063:G215C	G	+	1	0	CDHR1	85952719	1.000000	0.71417	0.965000	0.40720	0.726000	0.41606	9.235000	0.95353	2.514000	0.84764	0.561000	0.74099	GGC		0.557	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100	
AHNAK	79026	broad.mit.edu	37	11	62286891	62286891	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:62286891C>G	ENST00000378024.4	-	5	15272	c.14998G>C	c.(14998-15000)Gtt>Ctt	p.V5000L	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5000					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTCAGGAACAGTGACATCC	0.433																																						uc001ntl.2																			0				ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(14998-15000)GTT>CTT		AHNAK nucleoprotein isoform 1							106.0	112.0	110.0					11																	62286891		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62286891C>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.14998G>C	11.37:g.62286891C>G	ENSP00000367263:p.Val5000Leu					AHNAK_uc001ntk.1_Intron	p.V5000L	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	15298	-		Melanoma(852;0.155)	5000					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.14998G>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	7.001	0.554791	0.13436	.	.	ENSG00000124942	ENST00000378024	T	0.00587	6.38	4.48	2.56	0.30785	.	0.467337	0.15773	N	0.245326	T	0.00724	0.0024	L	0.41236	1.265	0.26990	N	0.965162	P	0.37276	0.589	P	0.47346	0.544	T	0.44862	-0.9300	10	0.22109	T	0.4	.	2.1641	0.03833	0.1448:0.4059:0.2819:0.1674	.	5000	Q09666	AHNK_HUMAN	L	5000	ENSP00000367263:V5000L	ENSP00000367263:V5000L	V	-	1	0	AHNAK	62043467	0.000000	0.05858	0.997000	0.53966	0.986000	0.74619	-0.240000	0.08952	0.436000	0.26393	0.549000	0.68633	GTT		0.433	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
MTMR2	8898	broad.mit.edu	37	11	95580911	95580911	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:95580911G>A	ENST00000346299.5	-	10	1486	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	MTMR2_ENST00000484818.1_5'Flank|MTMR2_ENST00000393223.3_Silent_p.N310N|MTMR2_ENST00000352297.7_Silent_p.N310N|MTMR2_ENST00000409459.1_Silent_p.N310N	NM_016156.5	NP_057240.3	Q13614	MTMR2_HUMAN	myotubularin related protein 2	382	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|dendritic spine maintenance (GO:0097062)|inositol phosphate dephosphorylation (GO:0046855)|myelin assembly (GO:0032288)|negative regulation of endocytosis (GO:0045806)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of myelination (GO:0031642)|negative regulation of receptor catabolic process (GO:2000645)|negative regulation of receptor internalization (GO:0002091)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of early endosome to late endosome transport (GO:2000643)|protein dephosphorylation (GO:0006470)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endosome (GO:0005768)|neuronal postsynaptic density (GO:0097481)|nucleus (GO:0005634)|synaptic membrane (GO:0097060)|synaptic vesicle (GO:0008021)|vacuolar membrane (GO:0005774)	phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGATTCCAAGTTAGACAACC	0.368																																						uc001pfu.2																			0				pancreas(1)	1						c.(1144-1146)AAC>AAT		myotubularin-related protein 2 isoform 1							128.0	130.0	129.0					11																	95580911		2201	4298	6499	SO:0001819	synonymous_variant	8898					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:95580911G>A	U58033	CCDS8305.1, CCDS8306.1	11q22	2014-09-17			ENSG00000087053	ENSG00000087053		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7450	protein-coding gene	gene with protein product		603557		CMT4B		8640223, 9736772	Standard	NM_016156		Approved	KIAA1073	uc001pfu.3	Q13614	OTTHUMG00000153837	ENST00000346299.5:c.1146C>T	11.37:g.95580911G>A						MTMR2_uc001pfv.2_Silent_p.N310N|MTMR2_uc001pfs.2_Silent_p.N310N|MTMR2_uc001pft.2_Silent_p.N310N|MTMR2_uc010ruj.1_Silent_p.N365N	p.N382N	NM_016156	NP_057240	Q13614	MTMR2_HUMAN			10	1399	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	382			Myotubularin phosphatase.		A6NN98|Q9UPS9	Silent	SNP	ENST00000346299.5	37	c.1146C>T	CCDS8305.1																																																																																				0.368	MTMR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332620.1	NM_016156	
SCN3B	55800	broad.mit.edu	37	11	123513193	123513193	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:123513193T>C	ENST00000392770.2	-	3	1208	c.406A>G	c.(406-408)Aag>Gag	p.K136E	SCN3B_ENST00000299333.3_Missense_Mutation_p.K136E|SCN3B_ENST00000530277.1_Missense_Mutation_p.K136E	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	136	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCGTCGTCTTCACAAAGGGC	0.592																																						uc001pza.1																			0				large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(406-408)AAG>GAG		voltage-gated sodium channel beta-3 subunit							83.0	77.0	79.0					11																	123513193		2202	4299	6501	SO:0001583	missense	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123513193T>C	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.406A>G	11.37:g.123513193T>C	ENSP00000376523:p.Lys136Glu					SCN3B_uc001pzb.1_Missense_Mutation_p.K136E	p.K136E	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	4	813	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	136			Ig-like C2-type.|Extracellular (Potential).		A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	c.406A>G	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	T	11.49	1.654929	0.29425	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.362807	0.34484	N	0.003921	T	0.43166	0.1235	N	0.22421	0.69	0.28885	N	0.894153	B	0.11235	0.004	B	0.08055	0.003	T	0.28713	-1.0035	10	0.02654	T	1	-4.531	12.326	0.55011	0.0:0.0:0.2588:0.7412	.	136	Q9NY72	SCN3B_HUMAN	E	136	ENSP00000376523:K136E;ENSP00000299333:K136E;ENSP00000432785:K136E;ENSP00000435554:K136E	ENSP00000299333:K136E	K	-	1	0	SCN3B	123018403	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.831000	0.39141	2.302000	0.77476	0.533000	0.62120	AAG		0.592	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400	
CRACR2A	84766	broad.mit.edu	37	12	3788105	3788105	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:3788105A>G	ENST00000252322.1	-	6	968	c.500T>C	c.(499-501)cTt>cCt	p.L167P	EFCAB4B_ENST00000440314.2_Missense_Mutation_p.L167P|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.L167P	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		167					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTGGGCTCCAAGTCTGTCCAT	0.517																																						uc001qmj.2																			0				ovary(1)|pancreas(1)	2						c.(499-501)CTT>CCT		EF-hand calcium binding domain 4B isoform c							202.0	163.0	176.0					12																	3788105		2203	4300	6503	SO:0001583	missense	84766				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	g.chr12:3788105A>G																												ENST00000252322.1:c.500T>C	12.37:g.3788105A>G	ENSP00000252322:p.Leu167Pro					EFCAB4B_uc010sen.1_Missense_Mutation_p.L167P|EFCAB4B_uc010seo.1_Missense_Mutation_p.L167P	p.L167P	NM_032680	NP_116069	Q9BSW2	EFC4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)		6	1072	-			167					B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000252322.1	37	c.500T>C	CCDS8522.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.003282	0.74932	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	T;T;T	0.70631	-0.5;1.91;1.94	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	D	0.84097	0.5397	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.98	D	0.86296	0.1677	10	0.87932	D	0	-9.3894	10.9292	0.47207	1.0:0.0:0.0:0.0	.	167;167;167	D7UEQ6;Q9BSW2-2;Q9BSW2	.;.;EFC4B_HUMAN	P	167	ENSP00000409382:L167P;ENSP00000412496:L167P;ENSP00000252322:L167P	ENSP00000252322:L167P	L	-	2	0	EFCAB4B	3658366	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	8.216000	0.89764	1.837000	0.53436	0.459000	0.35465	CTT		0.517	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000398673.1		
NDUFA9	4704	broad.mit.edu	37	12	4771765	4771765	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:4771765T>C	ENST00000266544.5	+	6	639	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	RP11-500M8.7_ENST00000536588.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	207					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|sodium ion transport (GO:0006814)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|nucleus (GO:0005634)	coenzyme binding (GO:0050662)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)|protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						GTCGGACATCTTTGGAAGAGA	0.393																																					Colon(75;996 1244 23946 25294 29232)	uc001qnc.2																			0				ovary(1)	1						c.(619-621)TTT>CTT		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						171.0	163.0	166.0					12																	4771765		2203	4300	6503	SO:0001583	missense	4704				mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr12:4771765T>C	AF050641	CCDS8532.1	12p13.3	2011-09-14	2002-08-29		ENSG00000139180	ENSG00000139180		"""Mitochondrial respiratory chain complex / Complex I"", ""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	7693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 22E, member 1"", ""complex I 39kDa subunit"""	603834	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD)"""	NDUFS2L		8486360, 19027726	Standard	NM_005002		Approved	SDR22E1, CI-39k	uc001qnc.3	Q16795		ENST00000266544.5:c.619T>C	12.37:g.4771765T>C	ENSP00000266544:p.Phe207Leu					NDUFA9_uc009zei.1_Missense_Mutation_p.F207L|NDUFA9_uc010ses.1_5'UTR	p.F207L	NM_005002	NP_004993	Q16795	NDUA9_HUMAN			6	629	+			207					Q14076|Q2NKX0	Missense_Mutation	SNP	ENST00000266544.5	37	c.619T>C	CCDS8532.1	.	.	.	.	.	.	.	.	.	.	T	34	5.308090	0.95629	.	.	ENSG00000139180	ENST00000266544	D	0.93488	-3.23	5.15	5.15	0.70609	NAD(P)-binding domain (1);	0.046488	0.85682	D	0.000000	D	0.96996	0.9019	M	0.92970	3.365	0.80722	D	1	D;D	0.65815	0.995;0.995	P;P	0.62014	0.897;0.897	D	0.97814	1.0252	10	0.72032	D	0.01	-12.3884	14.2559	0.66051	0.0:0.0:0.0:1.0	.	207;207	A8K4V2;Q16795	.;NDUA9_HUMAN	L	207	ENSP00000266544:F207L	ENSP00000266544:F207L	F	+	1	0	NDUFA9	4642026	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	7.587000	0.82613	2.047000	0.60756	0.454000	0.30748	TTT		0.393	NDUFA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398900.2	NM_005002	
PLEKHA5	54477	broad.mit.edu	37	12	19285373	19285373	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:19285373A>T	ENST00000299275.6	+	3	222	c.216A>T	c.(214-216)agA>agT	p.R72S	PLEKHA5_ENST00000538714.1_Missense_Mutation_p.R72S|PLEKHA5_ENST00000540972.1_Missense_Mutation_p.R72S|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.R72S|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.R72S|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.R72S|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.R72S|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.R72S	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	72	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGGTGCAAGATACTATATAA	0.313																																					Pancreas(196;329 2193 11246 14234 19524)	uc001reb.2																			0				ovary(1)|kidney(1)|skin(1)	3						c.(214-216)AGA>AGT		pleckstrin homology domain containing, family A							139.0	139.0	139.0					12																	19285373		2203	4298	6501	SO:0001583	missense	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19285373A>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.216A>T	12.37:g.19285373A>T	ENSP00000299275:p.Arg72Ser					PLEKHA5_uc010sie.1_Missense_Mutation_p.R72S|PLEKHA5_uc001rea.2_Missense_Mutation_p.R72S|PLEKHA5_uc009zin.2_5'UTR|PLEKHA5_uc001rdz.3_Missense_Mutation_p.R72S	p.R72S	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN			3	302	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		72			WW 2.		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	ENST00000299275.6	37	c.216A>T	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366667	0.24771	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000540972;ENST00000429027;ENST00000299275;ENST00000538714	D;D;D;D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56	4.8	4.8	0.61643	WW/Rsp5/WWP (3);	1.027020	0.07707	N	0.941447	D	0.85217	0.5646	N	0.21583	0.68	0.80722	D	1	D;B;B	0.62365	0.991;0.021;0.017	D;B;B	0.78314	0.991;0.023;0.008	T	0.75926	-0.3145	10	0.27082	T	0.32	0.0309	12.1178	0.53875	1.0:0.0:0.0:0.0	.	72;72;72	B4DHK5;Q9HAU0;Q9HAU0-2	.;PKHA5_HUMAN;.	S	72	ENSP00000325155:R72S;ENSP00000347560:R72S;ENSP00000352104:R72S;ENSP00000311239:R72S;ENSP00000404296:R72S;ENSP00000299275:R72S;ENSP00000439673:R72S	ENSP00000299275:R72S	R	+	3	2	PLEKHA5	19176640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.445000	0.35079	2.145000	0.66743	0.455000	0.32223	AGA		0.313	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012	
H3F3C	440093	broad.mit.edu	37	12	31944878	31944878	+	Missense_Mutation	SNP	C	C	T	rs141415515		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:31944878C>T	ENST00000340398.3	-	1	297	c.223G>A	c.(223-225)Gcg>Acg	p.A75T		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	75					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AAATCCTGCGCGATCTCCCTC	0.587										HNSCC(67;0.2)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		20326	0.0		0.0	False		,,,				2504	0.0					uc001rkr.2																			0					0						c.(223-225)GCG>ACG		histone H3-like							110.0	102.0	104.0					12																	31944878		2203	4300	6503	SO:0001583	missense	440093				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr12:31944878C>T	BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.223G>A	12.37:g.31944878C>T	ENSP00000339835:p.Ala75Thr	HNSCC(67;0.2)					p.A75T	NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN			1	298	-			75					E9P281	Missense_Mutation	SNP	ENST00000340398.3	37	c.223G>A	CCDS31769.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.71	1.719030	0.30503	.	.	ENSG00000188375	ENST00000340398	T	0.44482	0.92	1.3	-1.1	0.09872	Histone-fold (2);Histone core (1);	0.259161	0.23450	U	0.048043	T	0.34600	0.0903	M	0.72479	2.2	0.29003	N	0.887351	P	0.40834	0.73	B	0.37047	0.24	T	0.31558	-0.9939	10	0.87932	D	0	.	5.9206	0.19080	0.0:0.6668:0.0:0.3332	.	75	Q6NXT2	H3C_HUMAN	T	75	ENSP00000339835:A75T	ENSP00000339835:A75T	A	-	1	0	H3F3C	31836145	1.000000	0.71417	0.037000	0.18230	0.206000	0.24218	5.362000	0.66098	-0.309000	0.08779	0.413000	0.27773	GCG		0.587	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349653.1	NM_001013699	
OR6C75	390323	broad.mit.edu	37	12	55759176	55759176	+	Silent	SNP	G	G	T	rs113253007		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:55759176G>T	ENST00000343399.3	+	1	282	c.282G>T	c.(280-282)ggG>ggT	p.G94G		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTATAATGGGTGTGTGGCTC	0.448																																						uc010spk.1																			0				ovary(2)|large_intestine(1)	3						c.(280-282)GGG>GGT		olfactory receptor, family 6, subfamily C,							133.0	127.0	129.0					12																	55759176		2203	4300	6503	SO:0001819	synonymous_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759176G>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.282G>T	12.37:g.55759176G>T							p.G94G	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			1	282	+			94			Extracellular (Potential).			Silent	SNP	ENST00000343399.3	37	c.282G>T	CCDS31820.1																																																																																				0.448	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
SMARCC2	6601	broad.mit.edu	37	12	56578637	56578637	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:56578637C>G	ENST00000267064.4	-	5	569	c.483G>C	c.(481-483)aaG>aaC	p.K161N	SMARCC2_ENST00000550164.1_Missense_Mutation_p.K161N|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000394023.3_Missense_Mutation_p.K161N|SMARCC2_ENST00000347471.4_Missense_Mutation_p.K161N	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	161					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTGGTGTCTCTTGATAATGT	0.418																																						uc001skb.2																			0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(481-483)AAG>AAC		SWI/SNF-related matrix-associated							148.0	132.0	137.0					12																	56578637		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56578637C>G	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.483G>C	12.37:g.56578637C>G	ENSP00000267064:p.Lys161Asn					SMARCC2_uc001skd.2_Missense_Mutation_p.K161N|SMARCC2_uc001ska.2_Missense_Mutation_p.K161N|SMARCC2_uc001skc.2_Missense_Mutation_p.K161N|SMARCC2_uc010sqf.1_Missense_Mutation_p.K50N	p.K161N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		5	589	-			161					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.483G>C	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899547	0.72754	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.85	2.99	0.34606	BRCT (1);	0.000000	0.85682	D	0.000000	T	0.70272	0.3205	M	0.73217	2.22	0.39565	D	0.969198	D;D;D;D;D	0.76494	0.998;0.999;0.998;0.998;0.999	D;D;D;D;D	0.80764	0.987;0.994;0.987;0.987;0.994	T	0.71909	-0.4450	10	0.66056	D	0.02	-21.1434	8.2617	0.31788	0.0:0.6401:0.0:0.3599	.	50;161;166;161;161	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	N	161	ENSP00000377591:K161N;ENSP00000449396:K161N;ENSP00000302919:K161N;ENSP00000267064:K161N	ENSP00000267064:K161N	K	-	3	2	SMARCC2	54864904	0.975000	0.34042	1.000000	0.80357	0.976000	0.68499	0.153000	0.16323	0.924000	0.37069	-0.140000	0.14226	AAG		0.418	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1		
MARCH9	92979	broad.mit.edu	37	12	58152353	58152353	+	Silent	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:58152353C>A	ENST00000266643.5	+	4	1145	c.714C>A	c.(712-714)atC>atA	p.I238I	MARCH9_ENST00000548358.1_Silent_p.I125I	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	238					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGGCCTCATCATCCATGAAG	0.478																																						uc001spx.1																			0					0						c.(712-714)ATC>ATA		membrane-associated RING-CH protein IX							58.0	49.0	52.0					12																	58152353		2203	4300	6503	SO:0001819	synonymous_variant	92979					Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding	g.chr12:58152353C>A	BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.714C>A	12.37:g.58152353C>A						MARCH9_uc001spy.2_Silent_p.I125I	p.I238I	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		4	1126	+	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		238			Helical; (Potential).		B2R9U9|Q86VN5|Q96GG2	Silent	SNP	ENST00000266643.5	37	c.714C>A	CCDS31847.1																																																																																				0.478	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409244.1	NM_138396	
IFNG	3458	broad.mit.edu	37	12	68552011	68552011	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:68552011T>C	ENST00000229135.3	-	2	274	c.143A>G	c.(142-144)aAt>aGt	p.N48S	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	48					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	AAGAGTTCCATTATCCGCTAC	0.308																																						uc001stw.1																			0					0						c.(142-144)AAT>AGT		interferon, gamma precursor	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)						91.0	90.0	90.0					12																	68552011		2203	4298	6501	SO:0001583	missense	3458				cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding	g.chr12:68552011T>C		CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.143A>G	12.37:g.68552011T>C	ENSP00000229135:p.Asn48Ser						p.N48S	NM_000619	NP_000610	P01579	IFNG_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	2	269	-			48					B5BU88|Q53ZV4	Missense_Mutation	SNP	ENST00000229135.3	37	c.143A>G	CCDS8980.1	.	.	.	.	.	.	.	.	.	.	T	9.682	1.149574	0.21288	.	.	ENSG00000111537	ENST00000229135	T	0.39787	1.06	5.2	0.397	0.16314	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.456553	0.24022	N	0.042280	T	0.21841	0.0526	N	0.19112	0.55	0.09310	N	1	B	0.16396	0.017	B	0.15870	0.014	T	0.15838	-1.0423	9	.	.	.	0.4298	6.88	0.24168	0.0:0.3574:0.0:0.6426	.	48	P01579	IFNG_HUMAN	S	48	ENSP00000229135:N48S	.	N	-	2	0	IFNG	66838278	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.137000	0.10389	0.264000	0.21851	-0.408000	0.06270	AAT		0.308	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402301.1		
CNOT2	4848	broad.mit.edu	37	12	70732228	70732228	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:70732228G>C	ENST00000418359.3	+	11	1357	c.906G>C	c.(904-906)ttG>ttC	p.L302F	CNOT2_ENST00000229195.3_Missense_Mutation_p.L302F|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	302					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCTAGAATTTGAATACATCTG	0.294																																						uc001svv.2																			0					0						c.(904-906)TTG>TTC		CCR4-NOT transcription complex, subunit 2							61.0	62.0	62.0					12																	70732228		2198	4297	6495	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70732228G>C	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.906G>C	12.37:g.70732228G>C	ENSP00000412091:p.Leu302Phe					CNOT2_uc009zro.2_Missense_Mutation_p.L302F|CNOT2_uc009zrp.2_Missense_Mutation_p.L282F|CNOT2_uc009zrq.2_Missense_Mutation_p.L302F|CNOT2_uc001svw.1_Missense_Mutation_p.L42F	p.L302F	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		10	1485	+	Renal(347;0.236)		302					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.906G>C	CCDS31857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.910|9.910	1.209137|1.209137	0.22205|0.22205	.|.	.|.	ENSG00000111596|ENSG00000111596	ENST00000552599|ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155	.|T;T;T;T;T;T;T;T	.|0.73681	.|-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77;-0.77	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.73992|0.73992	0.3658|0.3658	L|L	0.35644|0.35644	1.08|1.08	0.80722|0.80722	D|D	1|1	.|D;P	.|0.64830	.|0.994;0.861	.|P;B	.|0.59703	.|0.862;0.297	T|T	0.67829|0.67829	-0.5569|-0.5569	5|10	.|0.09338	.|T	.|0.73	-3.6422|-3.6422	12.6383|12.6383	0.56694|0.56694	0.0757:0.0:0.9242:0.0|0.0757:0.0:0.9242:0.0	.|.	.|302;302	.|Q9NZN8-4;Q9NZN8	.|.;CNOT2_HUMAN	Q|F	13|302;302;302;165;241;293;302;112	.|ENSP00000450318:L302F;ENSP00000229195:L302F;ENSP00000412091:L302F;ENSP00000448490:L165F;ENSP00000447497:L241F;ENSP00000449659:L293F;ENSP00000449260:L302F;ENSP00000448499:L112F	.|ENSP00000229195:L302F	E|L	+|+	1|3	0|2	CNOT2|CNOT2	69018495|69018495	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.744000|5.744000	0.68664|0.68664	2.560000|2.560000	0.86352|0.86352	0.591000|0.591000	0.81541|0.81541	GAA|TTG		0.294	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1		
CNOT2	4848	broad.mit.edu	37	12	70732315	70732315	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:70732315G>C	ENST00000418359.3	+	11	1444	c.993G>C	c.(991-993)caG>caC	p.Q331H	CNOT2_ENST00000229195.3_Missense_Mutation_p.Q331H|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	331					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATAACCAGCAGAAAAAAGGGA	0.338																																						uc001svv.2																			0					0						c.(991-993)CAG>CAC		CCR4-NOT transcription complex, subunit 2							86.0	89.0	88.0					12																	70732315		2203	4300	6503	SO:0001583	missense	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70732315G>C	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.993G>C	12.37:g.70732315G>C	ENSP00000412091:p.Gln331His					CNOT2_uc009zro.2_Missense_Mutation_p.Q331H|CNOT2_uc009zrp.2_Missense_Mutation_p.Q311H|CNOT2_uc009zrq.2_Missense_Mutation_p.Q331H|CNOT2_uc001svw.1_Missense_Mutation_p.Q71H	p.Q331H	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		10	1572	+	Renal(347;0.236)		331					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	c.993G>C	CCDS31857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.62|11.62	1.692493|1.692493	0.30052|0.30052	.|.	.|.	ENSG00000111596|ENSG00000111596	ENST00000552599|ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000548159;ENST00000551043;ENST00000550155	.|T;T;T;T	.|0.49720	.|0.78;0.78;0.77;0.78	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.052024	.|0.85682	.|D	.|0.000000	T|T	0.63390|0.63390	0.2507|0.2507	M|M	0.65498|0.65498	2.005|2.005	0.58432|0.58432	D|D	0.999999|0.999999	.|P;D	.|0.57899	.|0.745;0.981	.|P;P	.|0.55749	.|0.556;0.783	T|T	0.61257|0.61257	-0.7099|-0.7099	5|10	.|0.42905	.|T	.|0.14	-2.5504|-2.5504	19.8633|19.8633	0.96793|0.96793	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|331;331	.|Q9NZN8-4;Q9NZN8	.|.;CNOT2_HUMAN	Q|H	42|331;331;194;270;322;331;141	.|ENSP00000229195:Q331H;ENSP00000412091:Q331H;ENSP00000449659:Q322H;ENSP00000449260:Q331H	.|ENSP00000229195:Q331H	E|Q	+|+	1|3	0|2	CNOT2|CNOT2	69018582|69018582	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.830000|6.830000	0.75319|0.75319	2.697000|2.697000	0.92050|0.92050	0.591000|0.591000	0.81541|0.81541	GAA|CAG		0.338	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1		
FSCB	84075	broad.mit.edu	37	14	44974567	44974567	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:44974567C>A	ENST00000340446.4	-	1	1915	c.1624G>T	c.(1624-1626)Gct>Tct	p.A542S	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	542	Ala-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTGAGCTTCAGCAGGA	0.493																																						uc001wvn.2																			0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1624-1626)GCT>TCT		fibrous sheath CABYR binding protein							31.0	32.0	32.0					14																	44974567		2203	4300	6503	SO:0001583	missense	84075					cilium		g.chr14:44974567C>A	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1624G>T	14.37:g.44974567C>A	ENSP00000344579:p.Ala542Ser						p.A542S	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1933	-			542			Ala-rich.		Q5H9U7|Q86YI2|Q9H0J3	Missense_Mutation	SNP	ENST00000340446.4	37	c.1624G>T	CCDS9679.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472084	0.26423	.	.	ENSG00000189139	ENST00000340446	T	0.11712	2.75	5.55	-2.57	0.06248	.	.	.	.	.	T	0.04318	0.0119	N	0.08118	0	0.09310	N	1	B	0.25904	0.137	B	0.21917	0.037	T	0.46665	-0.9175	9	0.10902	T	0.67	0.1217	9.0565	0.36408	0.0:0.4999:0.1099:0.3902	.	542	Q5H9T9	FSCB_HUMAN	S	542	ENSP00000344579:A542S	ENSP00000344579:A542S	A	-	1	0	FSCB	44044317	0.014000	0.17966	0.000000	0.03702	0.000000	0.00434	0.878000	0.28126	-0.723000	0.04915	-1.854000	0.00565	GCT		0.493	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
ACTN1	87	broad.mit.edu	37	14	69349203	69349203	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:69349203A>C	ENST00000193403.6	-	16	2308	c.1925T>G	c.(1924-1926)aTc>aGc	p.I642S	ACTN1_ENST00000438964.2_Missense_Mutation_p.I642S|ACTN1_ENST00000538545.2_Missense_Mutation_p.I642S|ACTN1_ENST00000376839.3_Missense_Mutation_p.I577S|ACTN1_ENST00000394419.4_Missense_Mutation_p.I642S	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	642	Interaction with DDN.				actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of apoptotic process (GO:0042981)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|double-stranded RNA binding (GO:0003725)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGGGCCCGATGACATTGGC	0.642																																						uc001xkl.2																			0				central_nervous_system(1)	1						c.(1924-1926)ATC>AGC		actinin, alpha 1 isoform b							69.0	48.0	55.0					14																	69349203		2203	4300	6503	SO:0001583	missense	87				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding	g.chr14:69349203A>C	M95178	CCDS9792.1, CCDS45129.1, CCDS45130.1	14q24.1	2014-08-08			ENSG00000072110	ENSG00000072110		"""EF-hand domain containing"""	163	protein-coding gene	gene with protein product		102575				2349951	Standard	NM_001102		Approved		uc001xkm.3	P12814	OTTHUMG00000171386	ENST00000193403.6:c.1925T>G	14.37:g.69349203A>C	ENSP00000193403:p.Ile642Ser					ACTN1_uc001xkk.2_Missense_Mutation_p.I238S|ACTN1_uc010ttb.1_Missense_Mutation_p.I577S|ACTN1_uc001xkm.2_Missense_Mutation_p.I642S|ACTN1_uc001xkn.2_Missense_Mutation_p.I642S|ACTN1_uc010ttc.1_Missense_Mutation_p.I227S	p.I642S	NM_001102	NP_001093	P12814	ACTN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)	16	2235	-			642			Spectrin 4.|Interaction with DDN.		B3V8S3|B4DHH3|B7TY16|Q1HE25|Q9BTN1	Missense_Mutation	SNP	ENST00000193403.6	37	c.1925T>G	CCDS9792.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	18.93|18.93|18.93	3.726705|3.726705|3.726705	0.69074|0.69074|0.69074	.|.|.	.|.|.	ENSG00000072110|ENSG00000072110|ENSG00000072110	ENST00000553290|ENST00000193403;ENST00000394419;ENST00000438964;ENST00000376839;ENST00000538545|ENST00000555075	.|T;T;T;T;T|.	.|0.53206|.	.|0.63;0.63;0.63;0.63;0.63|.	5.5|5.5|5.5	5.5|5.5|5.5	0.81552|0.81552|0.81552	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.73946|0.73946|0.73946	0.3652|0.3652|0.3652	M|M|M	0.72118|0.72118|0.72118	2.19|2.19|2.19	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;B;D;B;P|.	.|0.56746|.	.|0.977;0.291;0.958;0.083;0.833|.	.|D;B;D;B;P|.	.|0.71414|.	.|0.967;0.293;0.973;0.398;0.853|.	T|T|T	0.73936|0.73936|0.73936	-0.3825|-0.3825|-0.3825	5|10|5	.|0.72032|.	.|D|.	.|0.01|.	.|.|.	15.7759|15.7759|15.7759	0.78214|0.78214|0.78214	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|273;642;642;642;289|.	.|B7Z2W3;P12814-2;Q1HE25;P12814;B4DFY0|.	.|.;.;.;ACTN1_HUMAN;.|.	Q|S|A	81|642;642;642;577;642|28	.|ENSP00000193403:I642S;ENSP00000377941:I642S;ENSP00000414272:I642S;ENSP00000366035:I577S;ENSP00000439828:I642S|.	.|ENSP00000193403:I642S|.	H|I|S	-|-|-	3|2|1	2|0|0	ACTN1|ACTN1|ACTN1	68418956|68418956|68418956	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.984000|0.984000|0.984000	0.73092|0.73092|0.73092	9.139000|9.139000|9.139000	0.94554|0.94554|0.94554	2.308000|2.308000|2.308000	0.77769|0.77769|0.77769	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	CAT|ATC|TCG		0.642	ACTN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413233.3	NM_001102	
ACOT4	122970	broad.mit.edu	37	14	74060458	74060458	+	Silent	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:74060458C>A	ENST00000326303.4	+	2	764	c.510C>A	c.(508-510)ctC>ctA	p.L170L		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	170					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAGGGGGCCTCTTGGAATATC	0.423																																						uc001xoo.2																			0					0						c.(508-510)CTC>CTA		acyl-CoA thioesterase 4							87.0	84.0	85.0					14																	74060458		2203	4300	6503	SO:0001819	synonymous_variant	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74060458C>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.510C>A	14.37:g.74060458C>A							p.L170L	NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	2	764	+			170					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Silent	SNP	ENST00000326303.4	37	c.510C>A	CCDS9817.1																																																																																				0.423	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	NM_152331	
MAPKBP1	23005	broad.mit.edu	37	15	42107465	42107465	+	Silent	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr15:42107465C>T	ENST00000456763.2	+	12	1393	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	MAPKBP1_ENST00000221214.6_Silent_p.P276P|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000514566.1_Silent_p.P393P|MAPKBP1_ENST00000457542.2_Silent_p.P393P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	399										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGGTCTACCCCGAGGTGAAGG	0.572																																						uc001zok.3																			0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(1195-1197)CCC>CCT		mitogen-activated protein kinase binding protein							82.0	73.0	76.0					15																	42107465		2203	4300	6503	SO:0001819	synonymous_variant	23005							g.chr15:42107465C>T	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.1197C>T	15.37:g.42107465C>T						MAPKBP1_uc001zoj.3_Silent_p.P393P|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Silent_p.P393P|MAPKBP1_uc010udb.1_Intron|MAPKBP1_uc010bck.2_5'UTR|MAPKBP1_uc010bcl.2_5'UTR	p.P399P	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	12	1483	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	399			WD 6.		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	c.1197C>T	CCDS45239.1																																																																																				0.572	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
SLC9A5	6553	broad.mit.edu	37	16	67298319	67298319	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr16:67298319T>G	ENST00000299798.11	+	13	1972	c.1907T>G	c.(1906-1908)gTc>gGc	p.V636G	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	636					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.V636G(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GACAAGGAGGTCTTCCAGCAG	0.587																																						uc002esm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1906-1908)GTC>GGC		solute carrier family 9 (sodium/hydrogen							29.0	36.0	34.0					16																	67298319		2175	4283	6458	SO:0001583	missense	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67298319T>G		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1907T>G	16.37:g.67298319T>G	ENSP00000299798:p.Val636Gly					SLC9A5_uc010cee.2_Missense_Mutation_p.V341G|SLC9A5_uc010vji.1_Missense_Mutation_p.V140G	p.V636G	NM_004594	NP_004585	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	13	1970	+		Ovarian(137;0.0563)	636					A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	c.1907T>G	CCDS42178.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.99|14.99	2.699104|2.699104	0.48307|0.48307	.|.	.|.	ENSG00000135740|ENSG00000135740	ENST00000360183|ENST00000299798	.|T	.|0.56776	.|0.44	5.33|5.33	5.33|5.33	0.75918|0.75918	.|.	.|0.728499	.|0.13040	.|N	.|0.418591	T|T	0.54159|0.54159	0.1841|0.1841	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999998|0.999998	.|P	.|0.40050	.|0.7	.|B	.|0.42319	.|0.383	T|T	0.56780|0.56780	-0.7922|-0.7922	6|10	0.37606|0.66056	T|D	0.19|0.02	.|.	14.7654|14.7654	0.69634|0.69634	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|636	.|Q14940	.|SL9A5_HUMAN	A|G	150|636	.|ENSP00000299798:V636G	ENSP00000353311:S150A|ENSP00000299798:V636G	S|V	+|+	1|2	0|0	SLC9A5|SLC9A5	65855820|65855820	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.994000|0.994000	0.84299|0.84299	7.564000|7.564000	0.82326|0.82326	2.148000|2.148000	0.66965|0.66965	0.459000|0.459000	0.35465|0.35465	TCT|GTC		0.587	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1		
CAMKK1	84254	broad.mit.edu	37	17	3772866	3772866	+	Missense_Mutation	SNP	G	G	A	rs552614551		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:3772866G>A	ENST00000348335.2	-	14	1404	c.1256C>T	c.(1255-1257)tCg>tTg	p.S419L	CAMKK1_ENST00000381769.2_Missense_Mutation_p.S446L|CAMKK1_ENST00000381771.2_Missense_Mutation_p.S457L|CAMKK1_ENST00000158166.5_Missense_Mutation_p.S457L	NM_032294.2	NP_115670.1	Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	419					synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.S419L(1)|p.S457L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTCCTCCTCCGAAGGAAGGGG	0.632																																						uc002fwt.2																			2	Substitution - Missense(2)		endometrium(2)	ovary(1)	1						c.(1255-1257)TCG>TTG		calcium/calmodulin-dependent protein kinase 1							97.0	88.0	91.0					17																	3772866		2203	4300	6503	SO:0001583	missense	84254				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr17:3772866G>A	AL136576	CCDS11038.1, CCDS11039.1	17p13.3	2004-02-18			ENSG00000004660	ENSG00000004660			1469	protein-coding gene	gene with protein product		611411				11230166	Standard	NM_172207		Approved	DKFZp761M0423, CAMKKA, MGC34095	uc002fwt.3	Q8N5S9	OTTHUMG00000090725	ENST00000348335.2:c.1256C>T	17.37:g.3772866G>A	ENSP00000323118:p.Ser419Leu					CAMKK1_uc002fwu.2_Missense_Mutation_p.S419L|CAMKK1_uc002fwv.2_Missense_Mutation_p.S457L	p.S419L	NM_172206	NP_757343	Q8N5S9	KKCC1_HUMAN		LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)	14	1350	-			419					Q9BQH3	Missense_Mutation	SNP	ENST00000348335.2	37	c.1256C>T	CCDS11038.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061598	0.55432	.	.	ENSG00000004660	ENST00000381769;ENST00000348335;ENST00000381771;ENST00000158166	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.53	4.55	0.56014	Protein kinase-like domain (1);	0.080456	0.51477	D	0.000091	T	0.22282	0.0537	N	0.04297	-0.235	0.41474	D	0.98812	B;B	0.23316	0.083;0.05	B;B	0.17433	0.018;0.008	T	0.08743	-1.0707	10	0.42905	T	0.14	-13.3955	6.246	0.20818	0.2318:0.0:0.7682:0.0	.	457;419	F8W9H1;Q8N5S9	.;KKCC1_HUMAN	L	446;419;457;457	ENSP00000371188:S446L;ENSP00000323118:S419L;ENSP00000371190:S457L;ENSP00000158166:S457L	ENSP00000158166:S457L	S	-	2	0	CAMKK1	3719615	0.083000	0.21467	0.898000	0.35279	0.828000	0.46876	2.511000	0.45476	2.770000	0.95276	0.655000	0.94253	TCG		0.632	CAMKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207456.1	NM_032294, NM_172206, NM_172207	
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:27620990_27620992delGCT	ENST00000225388.4	-	1	144_146	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_ENST00000579665.1_In_Frame_Del_p.Q29del	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	29	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591																																						uc002hdy.3																			0				skin(2)|ovary(1)|breast(1)	4						c.(85-90)CAGCCG>CCG		nuclear fragile X mental retardation protein																																				SO:0001651	inframe_deletion	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620990_27620992delGCT	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.86_88delAGC	17.37:g.27620999_27621001delGCT	ENSP00000225388:p.Gln29del					NUFIP2_uc002hdx.3_In_Frame_Del_p.Q29del	p.Q29del	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	175_177	-			29			His-rich.		A1L3A6|Q9P2M5	In_Frame_Del	DEL	ENST00000225388.4	37	c.86_88delAGC	CCDS32600.1																																																																																				0.591	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772	
MED13	9969	broad.mit.edu	37	17	60061549	60061549	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:60061549C>A	ENST00000397786.2	-	15	2947	c.2871G>T	c.(2869-2871)atG>atT	p.M957I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	957					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGATGAATGGCATTGAAGGCC	0.378																																						uc002izo.2																			0				large_intestine(1)|ovary(1)	2						c.(2869-2871)ATG>ATT		mediator complex subunit 13							107.0	98.0	101.0					17																	60061549		1855	4088	5943	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60061549C>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.2871G>T	17.37:g.60061549C>A	ENSP00000380888:p.Met957Ile						p.M957I	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			15	2948	-			957					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.2871G>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231541	0.39399	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.73681	-0.77	5.59	5.59	0.84812	.	0.110570	0.85682	D	0.000000	T	0.72463	0.3463	L	0.60455	1.87	0.80722	D	1	P	0.35383	0.498	B	0.33454	0.164	T	0.71351	-0.4619	10	0.36615	T	0.2	-27.4555	19.5763	0.95446	0.0:1.0:0.0:0.0	.	957	Q9UHV7	MED13_HUMAN	I	957;956	ENSP00000380888:M957I	ENSP00000262436:M956I	M	-	3	0	MED13	57416331	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.518000	0.67068	2.646000	0.89796	0.655000	0.94253	ATG		0.378	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121	
CBX8	57332	broad.mit.edu	37	17	77769275	77769275	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:77769275G>A	ENST00000269385.4	-	5	446	c.329C>T	c.(328-330)tCg>tTg	p.S110L	CBX8_ENST00000485449.1_5'UTR	NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	110					histone ubiquitination (GO:0016574)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	methylated histone binding (GO:0035064)|single-stranded RNA binding (GO:0003727)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTCCTGGGGCGAGCGGCCAGG	0.657																																						uc002jxd.1																			0					0						c.(328-330)TCG>TTG		chromobox homolog 8							14.0	17.0	16.0					17																	77769275		2200	4298	6498	SO:0001583	missense	57332				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	g.chr17:77769275G>A	AF174482	CCDS11765.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141570	ENSG00000141570			15962	protein-coding gene	gene with protein product	"""polycomb 3"", ""Pc class 3 homolog (Drosophila)"""		"""chromobox homolog 8 (Drosophila Pc class)"""			10825164	Standard	NM_020649		Approved	RC1, HPC3, PC3	uc002jxd.2	Q9HC52	OTTHUMG00000150416	ENST00000269385.4:c.329C>T	17.37:g.77769275G>A	ENSP00000269385:p.Ser110Leu						p.S110L	NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	422	-			110					Q96H39|Q9NR07	Missense_Mutation	SNP	ENST00000269385.4	37	c.329C>T	CCDS11765.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498733	0.64298	.	.	ENSG00000141570	ENST00000269385;ENST00000427800;ENST00000413392	T;T;T	0.25579	1.79;1.79;1.79	4.91	4.91	0.64330	.	0.680148	0.14996	N	0.286377	T	0.25644	0.0624	L	0.36672	1.1	0.43214	D	0.995087	D	0.57899	0.981	B	0.42771	0.397	T	0.05666	-1.0871	10	0.34782	T	0.22	-6.7112	18.097	0.89493	0.0:0.0:1.0:0.0	.	110	Q9HC52	CBX8_HUMAN	L	110;85;100	ENSP00000269385:S110L;ENSP00000408753:S85L;ENSP00000405058:S100L	ENSP00000269385:S110L	S	-	2	0	CBX8	75383870	1.000000	0.71417	0.812000	0.32479	0.937000	0.57800	6.765000	0.74965	2.242000	0.73789	0.462000	0.41574	TCG		0.657	CBX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318011.1	NM_020649	
POTEC	388468	broad.mit.edu	37	18	14543019	14543019	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:14543019T>C	ENST00000358970.5	-	1	126	c.127A>G	c.(127-129)Atg>Gtg	p.M43V	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	43										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAAGTGCCCATGTTGCTCTTG	0.587																																						uc010dln.2																			0				skin(3)	3						c.(127-129)ATG>GTG		ANKRD26-like family B, member 2							80.0	72.0	74.0					18																	14543019		692	1591	2283	SO:0001583	missense	388468							g.chr18:14543019T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.127A>G	18.37:g.14543019T>C	ENSP00000351856:p.Met43Val					POTEC_uc010xaj.1_RNA	p.M43V	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			1	581	-			43						Missense_Mutation	SNP	ENST00000358970.5	37	c.127A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.398072	0.00014	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.21191	2.02	0.722	-1.44	0.08856	.	.	.	.	.	T	0.04182	0.0116	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23726	-1.0180	8	0.02654	T	1	.	.	.	.	.	43	B2RU33	POTEC_HUMAN	V	43	ENSP00000351856:M43V	ENSP00000351856:M43V	M	-	1	0	POTEC	14533019	0.000000	0.05858	0.001000	0.08648	0.062000	0.15995	-1.858000	0.01659	-1.720000	0.01380	-1.448000	0.01049	ATG		0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
INO80C	125476	broad.mit.edu	37	18	33077703	33077703	+	Missense_Mutation	SNP	A	A	T	rs368883828		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:33077703A>T	ENST00000334598.7	-	1	252	c.136T>A	c.(136-138)Tcc>Acc	p.S46T	INO80C_ENST00000586489.1_5'Flank|INO80C_ENST00000590757.1_Missense_Mutation_p.S46T|INO80C_ENST00000592173.1_Missense_Mutation_p.S46T|INO80C_ENST00000441607.2_Missense_Mutation_p.S46T|RP11-322E11.6_ENST00000589258.1_Missense_Mutation_p.S46T	NM_194281.3	NP_919257.2	Q6PI98	IN80C_HUMAN	INO80 complex subunit C	46					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CTGGAAGCGGACGCTTTTTTC	0.672																																						uc002kyy.3																			0					0						c.(136-138)TCC>ACC		Ies6-similar protein isoform 2							23.0	24.0	24.0					18																	33077703		2203	4300	6503	SO:0001583	missense	125476				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex		g.chr18:33077703A>T		CCDS11914.1, CCDS45853.1	18q12.2	2011-07-06	2008-08-07	2008-08-07	ENSG00000153391	ENSG00000153391		"""INO80 complex subunits"""	26994	protein-coding gene	gene with protein product	"""IES6 homolog (S. cerevisiae)"""		"""chromosome 18 open reading frame 37"""	C18orf37		16230350	Standard	NM_001098817		Approved	FLJ38183, hIes6, IES6	uc010dmt.3	Q6PI98	OTTHUMG00000132564	ENST00000334598.7:c.136T>A	18.37:g.33077703A>T	ENSP00000334473:p.Ser46Thr					INO80C_uc002kyw.1_Missense_Mutation_p.S46T|INO80C_uc002kyx.3_5'Flank|INO80C_uc010dmt.2_Missense_Mutation_p.S46T	p.S46T	NM_194281	NP_919257	Q6PI98	IN80C_HUMAN			1	253	-			46					B4DUI4|E9PCS7|Q86WR1|Q8N994	Missense_Mutation	SNP	ENST00000334598.7	37	c.136T>A	CCDS11914.1	.	.	.	.	.	.	.	.	.	.	A	6.806	0.517731	0.13005	.	.	ENSG00000153391	ENST00000283410;ENST00000441607;ENST00000334598	.	.	.	4.37	-0.193	0.13244	.	0.635091	0.16359	N	0.217869	T	0.11750	0.0286	N	0.03608	-0.345	0.09310	N	0.999992	B;B;B	0.14012	0.0;0.0;0.009	B;B;B	0.14023	0.001;0.001;0.01	T	0.33214	-0.9877	9	0.07325	T	0.83	.	6.0511	0.19787	0.3689:0.471:0.0:0.1601	.	46;46;46	E9PCS7;Q6PI98;Q6PI98-3	.;IN80C_HUMAN;.	T	46	.	ENSP00000283410:S46T	S	-	1	0	INO80C	31331701	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	0.006000	0.14734	0.454000	0.30748	TCC		0.672	INO80C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255768.1	NM_194281	
POLI	11201	broad.mit.edu	37	18	51820790	51820790	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:51820790G>A	ENST00000579534.1	+	10	2319	c.2176G>A	c.(2176-2178)Gca>Aca	p.A726T	POLI_ENST00000406285.3_Missense_Mutation_p.A647T|POLI_ENST00000217800.5_Missense_Mutation_p.A600T|POLI_ENST00000579434.1_Missense_Mutation_p.A623T	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	726					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.A726T(1)|p.A701T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GGAACTGCTGGCAGAGTGGAA	0.388								DNA polymerases (catalytic subunits)																														uc002lfj.3																			2	Substitution - Missense(2)		endometrium(2)	ovary(2)|kidney(1)	3						c.(2176-2178)GCA>ACA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase iota							47.0	49.0	49.0					18																	51820790		2203	4299	6502	SO:0001583	missense	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51820790G>A		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.2176G>A	18.37:g.51820790G>A	ENSP00000462664:p.Ala726Thr					POLI_uc010xds.1_Missense_Mutation_p.A647T|POLI_uc002lfk.3_Missense_Mutation_p.A623T|POLI_uc010dpg.2_Missense_Mutation_p.A322T	p.A726T	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	10	2244	+			726					Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	c.2176G>A	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483783	0.26598	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.53857	0.6	5.5	3.66	0.41972	.	0.364880	0.29046	N	0.013305	T	0.48277	0.1491	M	0.73962	2.25	0.38339	D	0.944018	P;P	0.43094	0.799;0.799	B;B	0.37650	0.255;0.255	T	0.50676	-0.8800	10	0.31617	T	0.26	-6.0943	9.2083	0.37302	0.1781:0.0:0.8219:0.0	.	646;726	B7Z780;Q9UNA4	.;POLI_HUMAN	T	647;726	ENSP00000385196:A647T	ENSP00000217800:A726T	A	+	1	0	POLI	50074788	1.000000	0.71417	0.475000	0.27278	0.821000	0.46438	3.201000	0.51059	0.750000	0.32877	-0.142000	0.14014	GCA		0.388	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
DUS3L	56931	broad.mit.edu	37	19	5790075	5790075	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:5790075A>C	ENST00000309061.7	-	2	466	c.370T>G	c.(370-372)Tgt>Ggt	p.C124G	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	124							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGGGAGGGACACAGCCTGTTC	0.607																																						uc002mdc.2																			0					0						c.(370-372)TGT>GGT		dihydrouridine synthase 3-like isoform 1							82.0	82.0	82.0					19																	5790075		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5790075A>C		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.370T>G	19.37:g.5790075A>C	ENSP00000311977:p.Cys124Gly					DUS3L_uc002mdd.2_Intron|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_Intron	p.C124G	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN			2	467	-			124			C3H1-type 1.		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.370T>G	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.012020	0.75046	.	.	ENSG00000141994	ENST00000309061	T	0.53640	0.61	4.74	4.74	0.60224	Zinc finger, CCCH-type (1);	0.000000	0.85682	D	0.000000	T	0.72716	0.3495	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79006	-0.1979	10	0.87932	D	0	-25.0258	12.4564	0.55706	1.0:0.0:0.0:0.0	.	124	Q96G46	DUS3L_HUMAN	G	124	ENSP00000311977:C124G	ENSP00000311977:C124G	C	-	1	0	DUS3L	5741075	1.000000	0.71417	0.560000	0.28344	0.885000	0.51271	8.629000	0.90983	1.889000	0.54706	0.533000	0.62120	TGT		0.607	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175	
ADAMTS10	81794	broad.mit.edu	37	19	8651442	8651442	+	Splice_Site	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:8651442C>A	ENST00000597188.1	-	20	2673	c.2403G>T	c.(2401-2403)atG>atT	p.M801I	ADAMTS10_ENST00000270328.4_Splice_Site_p.M801I|ADAMTS10_ENST00000595838.1_Splice_Site_p.M288I	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	801	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCCTGTTACCATGACGATGA	0.597											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mkj.1																			0				pancreas(2)|skin(2)	4						c.(2401-2403)ATG>ATT		ADAM metallopeptidase with thrombospondin type 1							67.0	69.0	68.0					19																	8651442		2203	4300	6503	SO:0001630	splice_region_variant	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8651442C>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2403+1G>T	19.37:g.8651442C>A			OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	ADAMTS10_uc002mki.1_Missense_Mutation_p.M288I|ADAMTS10_uc002mkk.1_Missense_Mutation_p.M433I	p.M801I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN			20	2677	-			801			Spacer.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.2403G>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618262	0.87359	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.51574	0.7	4.87	4.87	0.63330	ADAM-TS Spacer 1 (1);	0.000000	0.85682	U	0.000000	T	0.70552	0.3237	M	0.79805	2.47	0.80722	D	1	P;D;D	0.76494	0.462;0.999;0.999	B;D;D	0.91635	0.27;0.999;0.999	T	0.73855	-0.3851	9	.	.	.	.	17.0069	0.86395	0.0:1.0:0.0:0.0	.	555;801;288	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	I	801;555	ENSP00000270328:M801I	.	M	-	3	0	ADAMTS10	8557442	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.386000	0.79775	2.251000	0.74343	0.561000	0.74099	ATG		0.597	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957	Missense_Mutation
CDC37	11140	broad.mit.edu	37	19	10506731	10506731	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:10506731A>T	ENST00000222005.2	-	2	304	c.251T>A	c.(250-252)cTg>cAg	p.L84Q		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	84					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCGGCCTGCAGGCGCTCCAG	0.662																																						uc002mof.1																			0					0						c.(250-252)CTG>CAG		cell division cycle 37 protein							100.0	92.0	95.0					19																	10506731		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506731A>T	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.251T>A	19.37:g.10506731A>T	ENSP00000222005:p.Leu84Gln					CDC37_uc002moe.1_5'Flank|CDC37_uc010dxf.1_5'UTR|CDC37_uc002mog.1_Missense_Mutation_p.L84Q|CDC37_uc002moh.2_Missense_Mutation_p.L84Q	p.L84Q	NM_007065	NP_008996	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	367	-			84					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.251T>A	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520230	0.44866	.	.	ENSG00000105401	ENST00000222005	T	0.46819	0.86	4.19	4.19	0.49359	Cdc37, N-terminal (1);	0.462271	0.20709	N	0.087140	T	0.55986	0.1955	M	0.78049	2.395	0.30937	N	0.726307	P;P	0.37612	0.602;0.602	P;P	0.44518	0.452;0.452	T	0.65590	-0.6131	10	0.72032	D	0.01	.	11.5181	0.50534	1.0:0.0:0.0:0.0	.	84;84	Q6FG59;Q16543	.;CDC37_HUMAN	Q	84	ENSP00000222005:L84Q	ENSP00000222005:L84Q	L	-	2	0	CDC37	10367731	0.978000	0.34361	0.916000	0.36221	0.893000	0.52053	2.576000	0.46033	1.675000	0.50919	0.454000	0.30748	CTG		0.662	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065	
CC2D1A	54862	broad.mit.edu	37	19	14029731	14029731	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:14029731C>A	ENST00000318003.7	+	10	1266	c.1025C>A	c.(1024-1026)cCc>cAc	p.P342H	CC2D1A_ENST00000589606.1_Missense_Mutation_p.P342H	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	342	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCAGAGGTGCCCCCACCCCCG	0.672																																						uc002mxo.2																			0					0						c.(1024-1026)CCC>CAC		coiled-coil and C2 domain containing 1A							14.0	21.0	19.0					19																	14029731		2008	4165	6173	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14029731C>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.1025C>A	19.37:g.14029731C>A	ENSP00000313601:p.Pro342His					CC2D1A_uc002mxn.2_Missense_Mutation_p.P241H|CC2D1A_uc002mxp.2_Missense_Mutation_p.P342H|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	p.P342H	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		10	1324	+			342			Pro-rich.		Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.1025C>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.767691	0.49574	.	.	ENSG00000132024	ENST00000318003;ENST00000397486	T	0.25912	1.77	4.75	3.72	0.42706	.	0.269077	0.37261	N	0.002172	T	0.49881	0.1583	M	0.82823	2.61	0.45250	D	0.998253	D;D;D	0.76494	0.999;0.992;0.997	D;P;P	0.66497	0.944;0.808;0.885	T	0.55302	-0.8162	10	0.56958	D	0.05	-10.7435	11.8294	0.52285	0.0:0.9132:0.0:0.0868	.	342;342;96	Q6P1N0-2;Q6P1N0;C9J1T8	.;C2D1A_HUMAN;.	H	342;96	ENSP00000313601:P342H	ENSP00000313601:P342H	P	+	2	0	CC2D1A	13890731	0.864000	0.29904	0.129000	0.21949	0.443000	0.32047	1.938000	0.40203	1.227000	0.43598	0.561000	0.74099	CCC		0.672	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721	
MYO9B	4650	broad.mit.edu	37	19	17212559	17212559	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:17212559G>A	ENST00000594824.1	+	2	179	c.32G>A	c.(31-33)cGc>cAc	p.R11H	CTD-2528A14.5_ENST00000597045.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.R11H|MYO9B_ENST00000595618.1_Missense_Mutation_p.R11H			Q13459	MYO9B_HUMAN	myosin IXB	11					actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCTCGGGCCGCCGGGAGCAG	0.692																																						uc010eak.2																			0				breast(1)	1						c.(31-33)CGC>CAC		myosin IXB isoform 1																																				SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17212559G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.32G>A	19.37:g.17212559G>A	ENSP00000471367:p.Arg11His					MYO9B_uc002nfi.2_Missense_Mutation_p.R11H|MYO9B_uc002nfj.1_Missense_Mutation_p.R11H	p.R11H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			2	184	+			11			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.32G>A		.	.	.	.	.	.	.	.	.	.	G	18.84	3.708950	0.68615	.	.	ENSG00000099331	ENST00000397274	D	0.85013	-1.93	4.57	3.49	0.39957	.	0.582798	0.15367	N	0.266076	D	0.84460	0.5477	L	0.47716	1.5	0.35489	D	0.7988	D;D;D	0.57571	0.98;0.98;0.98	P;P;P	0.49387	0.508;0.508;0.609	D	0.85973	0.1478	10	0.44086	T	0.13	.	13.4105	0.60940	0.0:0.159:0.841:0.0	.	11;11;17	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	H	11	ENSP00000380444:R11H	ENSP00000380444:R11H	R	+	2	0	MYO9B	17073559	1.000000	0.71417	0.002000	0.10522	0.907000	0.53573	4.374000	0.59543	0.859000	0.35456	0.655000	0.94253	CGC		0.692	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		
SCAF1	58506	broad.mit.edu	37	19	50155916	50155918	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:50155916_50155918delCCT	ENST00000360565.3	+	7	2394_2396	c.2270_2272delCCT	c.(2269-2274)gcctcc>gcc	p.S763del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	763	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCGGGGGCCGCCTCCTCCTCCTC	0.69																																						uc002poq.2																			0					0						c.(2269-2274)GCCTCC>GCC		SR-related CTD-associated factor 1				77,3773		7,63,1855						2.4	0.3			7	232,7408		7,218,3595	no	coding	SCAF1	NM_021228.2		14,281,5450	A1A1,A1R,RR		3.0366,2.0,2.6893				309,11181				SO:0001651	inframe_deletion	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50155916_50155918delCCT	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.2270_2272delCCT	19.37:g.50155925_50155927delCCT	ENSP00000353769:p.Ser763del						p.S763del	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	2394_2396	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	763			Ser-rich.		Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.2270_2272delCCT	CCDS33074.1																																																																																				0.690	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228	
C2orf16	84226	broad.mit.edu	37	2	27799823	27799823	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:27799823G>A	ENST00000408964.2	+	1	435	c.384G>A	c.(382-384)caG>caA	p.Q128Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	128						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGGGCATCAGTTTGCAAAAT	0.403																																						uc002rkz.3																			0				large_intestine(1)	1						c.(382-384)CAG>CAA		hypothetical protein LOC84226							71.0	66.0	68.0					2																	27799823		1844	4101	5945	SO:0001819	synonymous_variant	84226							g.chr2:27799823G>A	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.384G>A	2.37:g.27799823G>A							p.Q128Q	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	435	+	Acute lymphoblastic leukemia(172;0.155)		128					B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	ENST00000408964.2	37	c.384G>A	CCDS42666.1																																																																																				0.403	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266	
MAP4K3	8491	broad.mit.edu	37	2	39560698	39560698	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:39560698T>G	ENST00000263881.3	-	7	756	c.432A>C	c.(430-432)ttA>ttC	p.L144F	MAP4K3_ENST00000437545.1_Missense_Mutation_p.L81F|MAP4K3_ENST00000341681.5_Missense_Mutation_p.L144F	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	144	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CATTATCCGTTAATAGAATGT	0.274																																						uc002rro.2																			0				ovary(3)|lung(3)|stomach(1)|pancreas(1)	8						c.(430-432)TTA>TTC		mitogen-activated protein kinase kinase kinase							112.0	115.0	114.0					2																	39560698		2202	4300	6502	SO:0001583	missense	8491				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:39560698T>G	AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.432A>C	2.37:g.39560698T>G	ENSP00000263881:p.Leu144Phe					MAP4K3_uc002rrp.2_Missense_Mutation_p.L144F	p.L144F	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN			7	523	-		all_hematologic(82;0.211)	144			Protein kinase.		Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	c.432A>C	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863460	0.71949	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681	T;T;T	0.70399	-0.48;-0.48;-0.48	5.96	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.073693	0.56097	D	0.000030	T	0.81805	0.4900	M	0.73372	2.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81614	-0.0853	9	.	.	.	.	11.9661	0.53035	0.0:0.0673:0.0:0.9327	.	144;144	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	F	144;81;144	ENSP00000263881:L144F;ENSP00000416958:L81F;ENSP00000345434:L144F	.	L	-	3	2	MAP4K3	39414202	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	1.606000	0.36826	1.090000	0.41315	-0.256000	0.11100	TTA		0.274	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
BCL11A	53335	broad.mit.edu	37	2	60688972	60688972	+	Missense_Mutation	SNP	G	G	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:60688972G>C	ENST00000335712.6	-	4	1302	c.1075C>G	c.(1075-1077)Ccc>Gcc	p.P359A	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.P359A|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.P325A|BCL11A_ENST00000538214.1_Missense_Mutation_p.P325A	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	359	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGAGGGAGGGGGGGCGTCGCC	0.632			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1075-1077)CCC>GCC		B-cell CLL/lymphoma 11A isoform 1							40.0	49.0	46.0					2																	60688972		2196	4296	6492	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688972G>C	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1075C>G	2.37:g.60688972G>C	ENSP00000338774:p.Pro359Ala					BCL11A_uc002sab.2_Missense_Mutation_p.P359A|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.P325A|BCL11A_uc002sad.1_Missense_Mutation_p.P207A|BCL11A_uc002saf.1_Missense_Mutation_p.P325A	p.P359A	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1303	-			359			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1075C>G	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.600107	0.28534	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.09817	2.94;3.15;3.17;3.09	5.74	5.74	0.90152	.	0.059266	0.64402	D	0.000002	T	0.26304	0.0642	L	0.49350	1.555	0.80722	D	1	P;B;P;P	0.50710	0.938;0.08;0.812;0.897	P;B;B;P	0.58077	0.832;0.071;0.439;0.684	T	0.00033	-1.2270	10	0.45353	T	0.12	-2.7363	19.9231	0.97094	0.0:0.0:1.0:0.0	.	325;325;359;359	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	A	359;395;325;359;325	ENSP00000349300:P359A;ENSP00000438303:P325A;ENSP00000338774:P359A;ENSP00000351307:P325A	ENSP00000338774:P359A	P	-	1	0	BCL11A	60542476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.482000	0.81143	2.717000	0.92951	0.655000	0.94253	CCC		0.632	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893	
GPR45	11250	broad.mit.edu	37	2	105859160	105859160	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:105859160C>T	ENST00000258456.1	+	1	961	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCTGGCTGCCCCACTCCGTC	0.592																																						uc002tco.1																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(844-846)CCC>CTC		G protein-coupled receptor 45							183.0	176.0	178.0					2																	105859160		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859160C>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.845C>T	2.37:g.105859160C>T	ENSP00000258456:p.Pro282Leu						p.P282L	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	961	+			282			Helical; Name=6; (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.845C>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219513	0.79464	.	.	ENSG00000135973	ENST00000258456	T	0.79845	-1.31	4.55	4.55	0.56014	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.91429	0.7295	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93370	0.6734	10	0.87932	D	0	-37.1663	17.1015	0.86651	0.0:1.0:0.0:0.0	.	282	Q9Y5Y3	GPR45_HUMAN	L	282	ENSP00000258456:P282L	ENSP00000258456:P282L	P	+	2	0	GPR45	105225592	0.998000	0.40836	0.996000	0.52242	0.874000	0.50279	3.902000	0.56310	2.365000	0.80145	0.462000	0.41574	CCC		0.592	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227	
HCK	3055	broad.mit.edu	37	20	30661155	30661155	+	Missense_Mutation	SNP	A	A	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:30661155A>T	ENST00000520553.1	+	3	400	c.154A>T	c.(154-156)Atc>Ttc	p.I52F	HCK_ENST00000538448.1_Missense_Mutation_p.I52F|HCK_ENST00000375852.2_Missense_Mutation_p.I73F|HCK_ENST00000534862.1_Missense_Mutation_p.I53F|HCK_ENST00000375862.2_Missense_Mutation_p.I73F|HCK_ENST00000518730.1_Missense_Mutation_p.I52F	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	73					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CACACCAGGAATCAGGGAGGG	0.512																																						uc002wxh.2																			0				lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9						c.(217-219)ATC>TTC		hemopoietic cell kinase isoform p61HCK							129.0	111.0	117.0					20																	30661155		2203	4300	6503	SO:0001583	missense	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30661155A>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.154A>T	20.37:g.30661155A>T	ENSP00000429848:p.Ile52Phe					HCK_uc010gdy.2_Missense_Mutation_p.I52F|HCK_uc002wxi.2_Missense_Mutation_p.I52F	p.I73F	NM_002110	NP_002101	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		3	388	+			73					A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	c.217A>T	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	A	6.212	0.407223	0.11754	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.73897	-0.78;-0.78;-0.78;-0.78;-0.77;-0.79	4.27	-8.54	0.00912	Src homology-3 domain (1);	3.109970	0.01151	N	0.006415	T	0.49525	0.1562	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.46470	-0.9189	10	0.49607	T	0.09	.	4.7926	0.13256	0.2264:0.5011:0.1084:0.1641	.	52;73	P08631-3;P08631	.;HCK_HUMAN	F	53;52;73;52;52;73	ENSP00000444986:I53F;ENSP00000441169:I52F;ENSP00000365022:I73F;ENSP00000429848:I52F;ENSP00000427757:I52F;ENSP00000365012:I73F	ENSP00000365012:I73F	I	+	1	0	HCK	30124816	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.770000	0.01791	-2.521000	0.00497	-0.686000	0.03744	ATC		0.512	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1		
R3HDML	140902	broad.mit.edu	37	20	42973947	42973947	+	Silent	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:42973947C>T	ENST00000217043.2	+	4	730	c.558C>T	c.(556-558)acC>acT	p.T186T	RP5-881L22.5_ENST00000438702.1_RNA|Y_RNA_ENST00000364493.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	186	SCP.					extracellular region (GO:0005576)	peptidase inhibitor activity (GO:0030414)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCATCCACACCTGTAGTAGCA	0.582																																						uc002xls.1																			0					0						c.(556-558)ACC>ACT		R3H domain containing-like precursor							160.0	137.0	145.0					20																	42973947		2203	4300	6503	SO:0001819	synonymous_variant	140902					extracellular region	peptidase inhibitor activity	g.chr20:42973947C>T	BC107048	CCDS13329.1	20q13.12	2007-04-26	2005-09-02		ENSG00000101074	ENSG00000101074			16249	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing-like"""				Standard	NM_178491		Approved	dJ881L22.3	uc002xls.2	Q9H3Y0	OTTHUMG00000032524	ENST00000217043.2:c.558C>T	20.37:g.42973947C>T							p.T186T	NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		4	730	+		Myeloproliferative disorder(115;0.028)	186						Silent	SNP	ENST00000217043.2	37	c.558C>T	CCDS13329.1																																																																																				0.582	R3HDML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079344.1	NM_178491	
SEMG2	6407	broad.mit.edu	37	20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	rs140069155	byFrequency	TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:43851147C>T	ENST00000372769.3	+	2	964	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.R292S(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393													C|||	3	0.000599042	0.0	0.0	5008	,	,		23488	0.001		0.002	False		,,,				2504	0.0					uc010ggz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(874-876)CGT>TGT		semenogelin II precursor		C	CYS/ARG	0,4406		0,0,2203	94.0	88.0	90.0		874	-1.7	0.0	20	dbSNP_134	90	5,8595	4.3+/-15.6	0,5,4295	yes	missense	SEMG2	NM_003008.2	180	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	possibly-damaging	292/583	43851147	5,13001	2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851147C>T		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.874C>T	20.37:g.43851147C>T	ENSP00000361855:p.Arg292Cys					SEMG2_uc002xnk.2_Missense_Mutation_p.R292C|SEMG2_uc002xnl.2_Missense_Mutation_p.R292C	p.R292C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	931	+		Myeloproliferative disorder(115;0.0122)	292			Repeat-rich region.|4 X 60 AA tandem repeats, type I.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.874C>T	CCDS13346.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	11.34	1.610816	0.28712	0.0	5.81E-4	ENSG00000124157	ENST00000372769	T	0.06449	3.3	1.28	-1.66	0.08265	.	.	.	.	.	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	D;D;D	0.67145	0.992;0.996;0.996	P;P;P	0.57283	0.817;0.806;0.806	T	0.32561	-0.9902	9	0.72032	D	0.01	.	5.7337	0.18055	0.4022:0.5978:0.0:0.0	.	292;292;292	A8K6Z6;Q6IRW3;Q02383	.;.;SEMG2_HUMAN	C	292	ENSP00000361855:R292C	ENSP00000361855:R292C	R	+	1	0	SEMG2	43284561	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.512000	0.00446	-0.525000	0.06391	-0.335000	0.08231	CGT		0.393	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008	
LZTR1	8216	broad.mit.edu	37	22	21349003	21349003	+	Missense_Mutation	SNP	T	T	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr22:21349003T>G	ENST00000215739.8	+	15	2131	c.1772T>G	c.(1771-1773)cTg>cGg	p.L591R	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.L572R	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	591					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGGCTGCAGCTGAGCCAACTC	0.667																																						uc002zto.2																			0				ovary(2)|lung(2)	4						c.(1771-1773)CTG>CGG		leucine-zipper-like transcription regulator 1							41.0	38.0	39.0					22																	21349003		2202	4300	6502	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21349003T>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1772T>G	22.37:g.21349003T>G	ENSP00000215739:p.Leu591Arg					LZTR1_uc002ztn.2_Missense_Mutation_p.L550R|LZTR1_uc011ahy.1_Missense_Mutation_p.L572R|LZTR1_uc002ztp.2_5'Flank	p.L591R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		15	1875	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	591					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.1772T>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	t	21.2	4.117888	0.77323	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.73469	-0.75;-0.75	4.72	4.72	0.59763	BTB/POZ fold (1);	0.000000	0.64402	D	0.000001	D	0.83617	0.5293	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.98;0.998;0.998	D	0.85256	0.1047	10	0.72032	D	0.01	-22.0346	12.2081	0.54363	0.0:0.0:0.0:1.0	.	572;591;550	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	R	550;591;572	ENSP00000215739:L591R;ENSP00000374006:L572R	ENSP00000215739:L591R	L	+	2	0	LZTR1	19679003	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	4.949000	0.63596	1.979000	0.57680	0.375000	0.23000	CTG		0.667	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
PPIL2	23759	broad.mit.edu	37	22	22042378	22042378	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr22:22042378C>A	ENST00000335025.8	+	14	1095	c.1004C>A	c.(1003-1005)cCc>cAc	p.P335H	PPIL2_ENST00000412327.1_Missense_Mutation_p.P335H|PPIL2_ENST00000492445.2_Missense_Mutation_p.P335H|PPIL2_ENST00000406385.1_Missense_Mutation_p.P335H|PPIL2_ENST00000456792.2_Missense_Mutation_p.P314H|PPIL2_ENST00000398831.3_Missense_Mutation_p.P335H|PPIL2_ENST00000446951.1_3'UTR					peptidylprolyl isomerase (cyclophilin)-like 2											endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GGGGGCGACCCCACAGGCACA	0.642																																						uc010gtj.1																			0				ovary(2)	2						c.(1003-1005)CCC>CAC		peptidylprolyl isomerase-like 2 isoform a							140.0	149.0	146.0					22																	22042378		2203	4300	6503	SO:0001583	missense	23759				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	g.chr22:22042378C>A		CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.1004C>A	22.37:g.22042378C>A	ENSP00000334553:p.Pro335His					PPIL2_uc002zvh.3_Missense_Mutation_p.P335H|PPIL2_uc002zvi.3_Missense_Mutation_p.P335H|PPIL2_uc002zvg.3_Missense_Mutation_p.P335H|PPIL2_uc011aij.1_Missense_Mutation_p.P314H|PPIL2_uc002zvk.3_Missense_Mutation_p.P81H	p.P335H	NM_148175	NP_680480	Q13356	PPIL2_HUMAN			14	1120	+	Colorectal(54;0.105)		335			PPIase cyclophilin-type.			Missense_Mutation	SNP	ENST00000335025.8	37	c.1004C>A	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023622	0.75390	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000406385;ENST00000456792;ENST00000446951	T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76	4.64	3.63	0.41609	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.75049	0.3797	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.996;0.979	T	0.81726	-0.0801	10	0.87932	D	0	.	12.0263	0.53373	0.0:0.9137:0.0:0.0863	.	314;335;335	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	H	335;335;335;335;335;314;115	ENSP00000390427:P335H;ENSP00000334553:P335H;ENSP00000381812:P335H;ENSP00000445312:P335H;ENSP00000384299:P335H;ENSP00000396228:P314H;ENSP00000405214:P115H	ENSP00000334553:P335H	P	+	2	0	PPIL2	20372378	1.000000	0.71417	0.978000	0.43139	0.940000	0.58332	6.036000	0.70948	1.323000	0.45263	0.491000	0.48974	CCC		0.642	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4		
PRRT3	285368	broad.mit.edu	37	3	9989638	9989638	+	Missense_Mutation	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr3:9989638G>A	ENST00000412055.1	-	4	1348	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	407	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGACTGGGGGTGCTGGGGGA	0.607																																						uc003bul.2																			0					0						c.(1219-1221)CCC>TCC		proline-rich transmembrane protein 3 precursor							4.0	5.0	5.0					3																	9989638		1703	3806	5509	SO:0001583	missense	285368					integral to membrane		g.chr3:9989638G>A	AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1219C>T	3.37:g.9989638G>A	ENSP00000392511:p.Pro407Ser					CIDEC_uc003bto.2_Intron|PRRT3_uc003buk.2_RNA	p.P407S	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN			4	1349	-			407			Extracellular (Potential).|Pro-rich.		Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	ENST00000412055.1	37	c.1219C>T	CCDS43049.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019275	0.75275	.	.	ENSG00000163704	ENST00000412055	T	0.20200	2.09	4.89	4.89	0.63831	.	0.083358	0.45361	D	0.000363	T	0.25195	0.0612	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.17349	-1.0372	9	.	.	.	-21.8601	15.6039	0.76646	0.0:0.0:1.0:0.0	.	407	Q5FWE3	PRRT3_HUMAN	S	407	ENSP00000392511:P407S	.	P	-	1	0	PRRT3	9964638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.745000	0.62125	2.527000	0.85204	0.655000	0.94253	CCC		0.607	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339322.1	NM_207351	
MUC7	4589	broad.mit.edu	37	4	71346565	71346565	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:71346565A>G	ENST00000304887.5	+	3	294	c.104A>G	c.(103-105)cAt>cGt	p.H35R	MUC7_ENST00000413702.1_Missense_Mutation_p.H35R|MUC7_ENST00000456088.1_Missense_Mutation_p.H35R|MUC7_ENST00000514512.1_3'UTR	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	35					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGAAGGCATCATCACCAATCA	0.383																																						uc011cat.1																			0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(103-105)CAT>CGT		mucin 7, secreted precursor							168.0	166.0	167.0					4																	71346565		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346565A>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.104A>G	4.37:g.71346565A>G	ENSP00000302021:p.His35Arg					MUC7_uc011cau.1_Missense_Mutation_p.H35R|MUC7_uc003hfj.2_Missense_Mutation_p.H35R|uc011cav.1_RNA	p.H35R	NM_001145006	NP_001138478	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	392	+			35					Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.104A>G	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	A	10.65	1.410504	0.25465	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.52754	0.67;0.65;0.67;0.67	3.32	-2.95	0.05564	.	.	.	.	.	T	0.21387	0.0515	N	0.14661	0.345	0.09310	N	1	P	0.38020	0.615	B	0.34038	0.174	T	0.14062	-1.0486	9	0.62326	D	0.03	.	0.5588	0.00675	0.3522:0.1814:0.1128:0.3536	.	35	Q8TAX7	MUC7_HUMAN	R	35	ENSP00000407422:H35R;ENSP00000427594:H35R;ENSP00000400585:H35R;ENSP00000302021:H35R	ENSP00000302021:H35R	H	+	2	0	MUC7	71381154	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.316000	0.08071	-0.504000	0.06577	0.533000	0.62120	CAT		0.383	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291	
RASGEF1B	153020	broad.mit.edu	37	4	82380500	82380500	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:82380500C>A	ENST00000264400.2	-	2	314	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	RASGEF1B_ENST00000514889.1_5'Flank|RASGEF1B_ENST00000335927.7_Missense_Mutation_p.D55Y|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.D55Y|RASGEF1B_ENST00000436139.2_Missense_Mutation_p.D55Y	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	55	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GGATAGTAATCCACATTAGGT	0.443																																						uc003hmi.1																			0					0						c.(163-165)GAT>TAT		RasGEF domain family, member 1B							120.0	120.0	120.0					4																	82380500		2203	4300	6503	SO:0001583	missense	153020				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr4:82380500C>A	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.163G>T	4.37:g.82380500C>A	ENSP00000264400:p.Asp55Tyr					RASGEF1B_uc003hmj.1_Missense_Mutation_p.D55Y|RASGEF1B_uc010ijq.1_Missense_Mutation_p.D55Y|RASGEF1B_uc003hmk.2_Missense_Mutation_p.D55Y	p.D55Y	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN			2	307	-			55			N-terminal Ras-GEF.		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	ENST00000264400.2	37	c.163G>T	CCDS34022.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325935	0.81580	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927;ENST00000436139;ENST00000395570	T;T;T;T	0.51574	0.7;0.7;1.55;0.7	5.26	5.26	0.73747	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.049353	0.85682	D	0.000000	T	0.71230	0.3315	M	0.83012	2.62	0.80722	D	1	D;D;P;P	0.67145	0.971;0.996;0.864;0.888	P;D;P;D	0.66196	0.873;0.942;0.819;0.923	T	0.75563	-0.3274	10	0.87932	D	0	.	18.643	0.91401	0.0:1.0:0.0:0.0	.	55;55;55;55	Q0VAM2-2;Q8N437;Q0VAM2-3;Q0VAM2	.;.;.;RGF1B_HUMAN	Y	55	ENSP00000425393:D55Y;ENSP00000264400:D55Y;ENSP00000338437:D55Y;ENSP00000398763:D55Y	ENSP00000264400:D55Y	D	-	1	0	RASGEF1B	82599524	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	7.320000	0.79064	2.742000	0.94016	0.591000	0.81541	GAT		0.443	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362830.1	NM_152545	
FNIP2	57600	broad.mit.edu	37	4	159790265	159790265	+	Missense_Mutation	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:159790265C>G	ENST00000264433.6	+	13	2552	c.2477C>G	c.(2476-2478)gCa>gGa	p.A826G	FNIP2_ENST00000379346.3_Missense_Mutation_p.A849G	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	826	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCCACGGTGCAGGAGGAACG	0.607																																						uc003iqe.3																			0					0						c.(2476-2478)GCA>GGA		folliculin interacting protein 2							61.0	68.0	66.0					4																	159790265		2105	4232	6337	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159790265C>G	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2477C>G	4.37:g.159790265C>G	ENSP00000264433:p.Ala826Gly						p.A826G	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2660	+	all_hematologic(180;0.24)		826			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.2477C>G	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042195	0.19748	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.25912	1.78;1.77	5.26	-1.11	0.09840	.	0.962356	0.08650	N	0.914157	T	0.14527	0.0351	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34625	-0.9821	9	.	.	.	.	6.8395	0.23955	0.0:0.5246:0.237:0.2384	.	826	Q9P278	FNIP2_HUMAN	G	826;849	ENSP00000264433:A826G;ENSP00000368651:A849G	.	A	+	2	0	FNIP2	160009715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.552000	0.06020	-0.157000	0.11059	-1.990000	0.00449	GCA		0.607	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840	
NEK1	4750	broad.mit.edu	37	4	170345795	170345795	+	Missense_Mutation	SNP	C	C	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:170345795C>A	ENST00000439128.2	-	29	3687	c.3047G>T	c.(3046-3048)cGa>cTa	p.R1016L	NEK1_ENST00000511633.1_Missense_Mutation_p.R1000L|NEK1_ENST00000510533.1_Missense_Mutation_p.R972L|NEK1_ENST00000507142.1_Missense_Mutation_p.R1044L|NEK1_ENST00000512193.1_Missense_Mutation_p.R947L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	1016					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CGAGTGAGATCGAAATGCAAA	0.398																																						uc003isb.1																			0				lung(3)|ovary(2)|large_intestine(1)	6						c.(3046-3048)CGA>CTA		NIMA-related kinase 1							105.0	99.0	101.0					4																	170345795		1865	4094	5959	SO:0001583	missense	4750				cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr4:170345795C>A	AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.3047G>T	4.37:g.170345795C>A	ENSP00000408020:p.Arg1016Leu					NEK1_uc003isc.1_Missense_Mutation_p.R972L|NEK1_uc003isd.1_Missense_Mutation_p.R1044L|NEK1_uc003ise.1_Missense_Mutation_p.R1000L|NEK1_uc003isf.1_Missense_Mutation_p.R947L	p.R1016L	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)	29	3539	-		Prostate(90;0.00601)|Renal(120;0.0183)	1016					G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	ENST00000439128.2	37	c.3047G>T	CCDS47162.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655580	0.67586	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.77489	-1.1;-0.98;-1.05;-1.0;-1.03	5.59	5.59	0.84812	.	0.109289	0.41194	D	0.000923	D	0.87916	0.6298	M	0.71581	2.175	0.58432	D	0.999994	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;0.999	D	0.86920	0.2066	10	0.45353	T	0.12	.	19.592	0.95518	0.0:1.0:0.0:0.0	.	947;1000;1044;972;1016	Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;NEK1_HUMAN	L	1016;1000;972;1044;947	ENSP00000408020:R1016L;ENSP00000423332:R1000L;ENSP00000427653:R972L;ENSP00000424757:R1044L;ENSP00000424938:R947L	ENSP00000408020:R1016L	R	-	2	0	NEK1	170582370	1.000000	0.71417	0.998000	0.56505	0.205000	0.24178	4.367000	0.59498	2.628000	0.89032	0.655000	0.94253	CGA		0.398	NEK1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363157.3		
SLC9A3	6550	broad.mit.edu	37	5	481703	481703	+	Silent	SNP	G	G	A	rs200474984		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:481703G>A	ENST00000264938.3	-	9	1503	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	CTD-2228K2.7_ENST00000607286.1_RNA|SLC9A3_ENST00000514375.1_Silent_p.I489I|CTD-2228K2.7_ENST00000607005.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	498					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AATTGTGCCCGATCTGTCCGG	0.582																																						uc003jbe.2																			0					0						c.(1492-1494)ATC>ATT		solute carrier family 9 (sodium/hydrogen		G		1,4405	2.1+/-5.4	0,1,2202	180.0	185.0	183.0		1494	-7.7	0.7	5		183	0,8600		0,0,4300	no	coding-synonymous	SLC9A3	NM_004174.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		498/835	481703	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:481703G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.1494C>T	5.37:g.481703G>A						SLC9A3_uc011clx.1_Silent_p.I489I	p.I498I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		9	1606	-			498			Cytoplasmic (Potential).		B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.1494C>T	CCDS3855.1																																																																																				0.582	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174	
NSUN2	54888	broad.mit.edu	37	5	6600309	6600309	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:6600309G>A	ENST00000264670.6	-	19	2345	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C	NSUN2_ENST00000539938.1_Silent_p.C442C|NSUN2_ENST00000506139.1_Silent_p.C643C	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	678					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCCGCCATCCGCATAAGACGA	0.458																																						uc003jdu.2																			0				ovary(1)	1						c.(2032-2034)TGC>TGT		NOL1/NOP2/Sun domain family, member 2							57.0	58.0	58.0					5																	6600309		2203	4300	6503	SO:0001819	synonymous_variant	54888					cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	g.chr5:6600309G>A	AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.2034C>T	5.37:g.6600309G>A						NSUN2_uc003jds.2_Silent_p.C124C|NSUN2_uc003jdt.2_Silent_p.C442C|NSUN2_uc011cmk.1_Silent_p.C643C|NSUN2_uc003jdv.2_Silent_p.C442C	p.C678C	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN			19	2099	-			678					A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Silent	SNP	ENST00000264670.6	37	c.2034C>T	CCDS3869.1																																																																																				0.458	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755	
MYO10	4651	broad.mit.edu	37	5	16668401	16668401	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:16668401G>A	ENST00000513610.1	-	40	6514	c.6060C>T	c.(6058-6060)ctC>ctT	p.L2020L	MYO10_ENST00000515803.1_Silent_p.L1359L|MYO10_ENST00000505695.1_Silent_p.L1359L|MYO10_ENST00000427430.2_Silent_p.L1377L|MYO10_ENST00000274203.9_Silent_p.L1377L	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	2020	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGTTTCAAAGAGCAGCTCCC	0.463																																						uc003jft.3																			0				ovary(2)|pancreas(1)	3						c.(6058-6060)CTC>CTT		myosin X							155.0	156.0	156.0					5																	16668401		1967	4164	6131	SO:0001819	synonymous_variant	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16668401G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.6060C>T	5.37:g.16668401G>A						MYO10_uc011cnb.1_Silent_p.L649L|MYO10_uc011cnc.1_Silent_p.L899L|MYO10_uc011cnd.1_Silent_p.L1377L|MYO10_uc011cne.1_Silent_p.L1377L|MYO10_uc010itx.2_Silent_p.L1642L	p.L2020L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN			40	6528	-			2020			FERM.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	c.6060C>T	CCDS54834.1																																																																																				0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
HIST1H2AA	221613	broad.mit.edu	37	6	25726579	25726579	+	Silent	SNP	G	G	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:25726579G>T	ENST00000297012.3	-	1	211	c.177C>A	c.(175-177)ctC>ctA	p.L59L	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	59						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTTCTGCTGTGAGATACTCTA	0.537																																						uc003nfc.2																			0					0						c.(175-177)CTC>CTA		histone cluster 1, H2aa							311.0	240.0	264.0					6																	25726579		2203	4300	6503	SO:0001819	synonymous_variant	221613				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25726579G>T	AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.177C>A	6.37:g.25726579G>T						HIST1H2BA_uc003nfd.2_5'Flank	p.L59L	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN			1	212	-			59						Silent	SNP	ENST00000297012.3	37	c.177C>A	CCDS4562.1																																																																																				0.537	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040065.1	NM_170745	
PSMB8	5696	broad.mit.edu	37	6	32811722	32811722	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:32811722C>T	ENST00000374882.3	-	1	102	c.52G>A	c.(52-54)Gct>Act	p.A18T	PSMB8_ENST00000374881.2_Intron|PSMB8_ENST00000395339.3_Missense_Mutation_p.A18T|TAPSAR1_ENST00000453426.1_lincRNA|PSMB9_ENST00000395330.1_5'Flank	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	ACCGGGAGAGCCGATTCCGGC	0.637																																					NSCLC(48;53 1172 10859 13624 22883)	uc003oce.2																			0				skin(1)	1						c.(52-54)GCT>ACT		proteasome beta 8 subunit isoform E2 proprotein							66.0	87.0	79.0					6																	32811722		1510	2708	4218	SO:0001583	missense	5696				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity	g.chr6:32811722C>T		CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.52G>A	6.37:g.32811722C>T	ENSP00000364016:p.Ala18Thr					PSMB8_uc003ocf.2_Intron|PSMB8_uc011dqh.1_Missense_Mutation_p.A18T	p.A18T	NM_148919	NP_683720	P28062	PSB8_HUMAN			1	95	-			18					B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	ENST00000374882.3	37	c.52G>A	CCDS4757.1	.	.	.	.	.	.	.	.	.	.	C	6.385	0.439108	0.12104	.	.	ENSG00000204264	ENST00000395339;ENST00000374882	T;T	0.38887	1.11;1.79	5.01	3.06	0.35304	.	0.563371	0.19237	N	0.119263	T	0.13884	0.0336	L	0.51422	1.61	0.80722	D	1	P;B	0.35272	0.493;0.014	B;B	0.29942	0.109;0.01	T	0.04664	-1.0935	10	0.13853	T	0.58	-10.2538	6.2089	0.20617	0.0:0.7108:0.1891:0.1001	.	18;18	B7Z6U7;P28062	.;PSB8_HUMAN	T	18	ENSP00000378748:A18T;ENSP00000364016:A18T	ENSP00000364016:A18T	A	-	1	0	PSMB8	32919700	0.561000	0.26578	0.925000	0.36789	0.116000	0.19942	0.735000	0.26115	1.420000	0.47138	0.643000	0.83706	GCT		0.637	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076617.3	NM_148919	
SCUBE3	222663	broad.mit.edu	37	6	35210070	35210072	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:35210070_35210072delGAG	ENST00000274938.7	+	13	1507_1509	c.1507_1509delGAG	c.(1507-1509)gagdel	p.E504del	SCUBE3_ENST00000394681.1_In_Frame_Del_p.E520del	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGGCAAAACAGAGGAGGCTGGCA	0.547																																						uc003okf.1																			0				skin(1)	1						c.(1507-1509)GAGdel		signal peptide, CUB domain, EGF-like 3																																				SO:0001651	inframe_deletion	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35210070_35210072delGAG	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1507_1509delGAG	6.37:g.35210073_35210075delGAG	ENSP00000274938:p.Glu504del					SCUBE3_uc003okg.1_In_Frame_Del_p.E503del|SCUBE3_uc003okh.1_In_Frame_Del_p.E391del	p.E504del	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			13	1513_1515	+			504						In_Frame_Del	DEL	ENST00000274938.7	37	c.1507_1509delGAG	CCDS4800.1																																																																																				0.547	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	
CPVL	54504	broad.mit.edu	37	7	29152433	29152433	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:29152433C>T	ENST00000409850.1	-	7	821	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Missense_Mutation_p.E59K|CPVL_ENST00000396276.3_Missense_Mutation_p.E59K			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	59						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AAACTCAATTCTCTTCCTAGT	0.418																																						uc003szv.2																			0				ovary(2)	2						c.(175-177)GAA>AAA		serine carboxypeptidase vitellogenic-like							63.0	62.0	62.0					7																	29152433		2203	4300	6503	SO:0001583	missense	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29152433C>T	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.175G>A	7.37:g.29152433C>T	ENSP00000387164:p.Glu59Lys					CPVL_uc003szw.2_Missense_Mutation_p.E59K|CPVL_uc003szx.2_Missense_Mutation_p.E59K	p.E59K	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN			3	294	-			59					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Missense_Mutation	SNP	ENST00000409850.1	37	c.175G>A	CCDS5419.1	.	.	.	.	.	.	.	.	.	.	C	2.996	-0.207072	0.06180	.	.	ENSG00000106066	ENST00000265394;ENST00000396276;ENST00000409850	T;T;T	0.13657	2.57;2.57;2.57	5.61	1.27	0.21489	.	0.907132	0.09454	N	0.800036	T	0.05090	0.0136	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41998	-0.9477	10	0.06099	T	0.92	0.0	7.3448	0.26658	0.0:0.3256:0.4782:0.1962	.	59	Q9H3G5	CPVL_HUMAN	K	59	ENSP00000265394:E59K;ENSP00000379572:E59K;ENSP00000387164:E59K	ENSP00000265394:E59K	E	-	1	0	CPVL	29118958	0.004000	0.15560	0.003000	0.11579	0.036000	0.12997	0.168000	0.16622	0.214000	0.20742	0.561000	0.74099	GAA		0.418	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029	
MYO1G	64005	broad.mit.edu	37	7	45016656	45016656	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:45016656C>T	ENST00000258787.7	-	2	246	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	37	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGTGTAGATGCGGCCCTTCTC	0.637																																						uc003tmh.2																			0				breast(2)|ovary(1)|pancreas(1)	4						c.(109-111)CGC>CAC		myosin IG							58.0	54.0	56.0					7																	45016656		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45016656C>T	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.110G>A	7.37:g.45016656C>T	ENSP00000258787:p.Arg37His					MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	p.R37H	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			2	254	-			37			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.110G>A	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518945	0.44866	.	.	ENSG00000136286	ENST00000258787	T	0.71698	-0.59	3.93	2.02	0.26589	Myosin head, motor domain (2);	0.000000	0.37437	N	0.002082	T	0.68485	0.3006	N	0.25789	0.76	0.49389	D	0.999789	D	0.69078	0.997	D	0.63283	0.913	T	0.66614	-0.5879	10	0.59425	D	0.04	.	7.4484	0.27223	0.1644:0.744:0.0:0.0915	.	37	B0I1T2	MYO1G_HUMAN	H	37	ENSP00000258787:R37H	ENSP00000258787:R37H	R	-	2	0	MYO1G	44983181	0.978000	0.34361	0.998000	0.56505	0.791000	0.44710	2.517000	0.45529	0.402000	0.25451	0.655000	0.94253	CGC		0.637	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2		
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	rs149840192		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		23	Substitution - Missense(23)	p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	central_nervous_system(23)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(865-867)GCC>GTC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>T	7.37:g.55221822C>T	ENSP00000275493:p.Ala289Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289V	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	36	5.765054	0.96906	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.83695	0.5310	M	0.89785	3.06	0.80722	D	1	D;D;D;D;D	0.89917	0.996;0.998;1.0;1.0;1.0	P;D;D;D;D	0.77004	0.877;0.989;0.98;0.989;0.941	D	0.86120	0.1568	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244V;ENSP00000342376:A289V;ENSP00000345973:A289V;ENSP00000413843:A289V;ENSP00000275493:A289V;ENSP00000410031:A289V;ENSP00000395243:A236V	ENSP00000275493:A289V	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
POM121	9883	broad.mit.edu	37	7	72413475	72413475	+	Silent	SNP	G	G	A			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:72413475G>A	ENST00000434423.2	+	11	2943	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G	POM121_ENST00000358357.3_Silent_p.G716G|POM121_ENST00000446813.1_Silent_p.G716G|POM121_ENST00000257622.4_Silent_p.G716G|POM121_ENST00000395270.1_Silent_p.G716G			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	981	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGCCACCGGGGGCCGCCAAGC	0.652																																						uc003twk.2																			0					0						c.(2941-2943)GGG>GGA		nuclear pore membrane protein 121							29.0	40.0	36.0					7																	72413475		2198	4294	6492	SO:0001819	synonymous_variant	9883				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr7:72413475G>A	AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2943G>A	7.37:g.72413475G>A						POM121_uc003twj.2_Silent_p.G716G|POM121_uc010lam.1_Silent_p.G716G	p.G981G	NM_172020	NP_742017	Q96HA1	P121A_HUMAN			11	2943	+		Lung NSC(55;0.163)	981			Pore side (Potential).		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	ENST00000434423.2	37	c.2943G>A																																																																																					0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347344.1		
ZC3HAV1L	92092	broad.mit.edu	37	7	138719356	138719356	+	Missense_Mutation	SNP	A	A	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:138719356A>G	ENST00000275766.1	-	2	445	c.434T>C	c.(433-435)cTt>cCt	p.L145P		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	145										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GAGACCAAAAAGTCCATGGCT	0.483																																						uc003vum.1																			0					0						c.(433-435)CTT>CCT		zinc finger CCCH-type, antiviral 1-like							124.0	117.0	119.0					7																	138719356		2203	4300	6503	SO:0001583	missense	92092							g.chr7:138719356A>G	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.434T>C	7.37:g.138719356A>G	ENSP00000275766:p.Leu145Pro						p.L145P	NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN			2	446	-			145					Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	c.434T>C	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	A	17.64	3.439383	0.63067	.	.	ENSG00000146858	ENST00000275766	T	0.47528	0.84	5.65	5.65	0.86999	.	0.316472	0.22985	N	0.053267	T	0.67230	0.2871	M	0.76727	2.345	0.23198	N	0.998134	D	0.76494	0.999	D	0.74023	0.982	T	0.63070	-0.6719	10	0.87932	D	0	.	12.5675	0.56318	1.0:0.0:0.0:0.0	.	145	Q96H79	ZCCHL_HUMAN	P	145	ENSP00000275766:L145P	ENSP00000275766:L145P	L	-	2	0	ZC3HAV1L	138369896	0.215000	0.23574	0.032000	0.17829	0.963000	0.63663	5.260000	0.65490	2.281000	0.76405	0.528000	0.53228	CTT		0.483	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660	
RP1L1	94137	broad.mit.edu	37	8	10467546	10467546	+	Silent	SNP	C	C	T	rs375108865		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr8:10467546C>T	ENST00000382483.3	-	4	4285	c.4062G>A	c.(4060-4062)gcG>gcA	p.A1354A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1384	8 X 16 AA approximate tandem repeats of T-E-E-G-L-Q-E-E-G-V-Q-L-E-E-T-K.		Missing (in allele RP1L1-1).|Missing (in allele RP1L1-2).		cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.A1354A(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		cctctaactgcgcctcttctt	0.478																																						uc003wtc.2																			1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(4060-4062)GCG>GCA		retinitis pigmentosa 1-like 1		C		1,3867		0,1,1933	95.0	97.0	96.0		4062	-1.9	0.0	8		96	0,8240		0,0,4120	no	coding-synonymous	RP1L1	NM_178857.5		0,1,6053	TT,TC,CC		0.0,0.0259,0.0083		1354/2401	10467546	1,12107	1934	4120	6054	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10467546C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4062G>A	8.37:g.10467546C>T							p.A1354A	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	4291	-			1354					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.4062G>A	CCDS43708.1																																																																																				0.478	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
CDC37L1	55664	broad.mit.edu	37	9	4679887	4679887	+	Silent	SNP	C	C	G			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:4679887C>G	ENST00000381854.3	+	1	322	c.120C>G	c.(118-120)ggC>ggG	p.G40G	CDC37L1_ENST00000381858.1_Silent_p.G40G|CDC37L1_ENST00000479095.1_3'UTR|RP11-6J24.6_ENST00000607997.1_lincRNA	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	40	Self-association.					cytoplasm (GO:0005737)				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		AGCTGCCAGGCGGCGGCGCCC	0.682											OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zio.2																			0					0						c.(118-120)GGC>GGG		cell division cycle 37 homolog (S.							32.0	38.0	36.0					9																	4679887		2200	4298	6498	SO:0001819	synonymous_variant	55664					cytoplasm		g.chr9:4679887C>G	AK000497	CCDS6454.1	9p24.1	2013-01-17	2013-01-17		ENSG00000106993	ENSG00000106993			17179	protein-coding gene	gene with protein product		610346	"""CDC37 cell division cycle 37 homolog (S. cerevisiae)-like 1"", ""cell division cycle 37 homolog (S. cerevisiae)-like 1"""				Standard	NM_017913		Approved	HARC, FLJ20639, CDC37B	uc003zio.3	Q7L3B6	OTTHUMG00000019465	ENST00000381854.3:c.120C>G	9.37:g.4679887C>G			OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620		p.G40G	NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN		GBM - Glioblastoma multiforme(50;0.0318)	1	330	+	all_hematologic(13;0.137)	Breast(48;0.238)	40			Self-association.		B1AL70|Q9NWS3|Q9NX16	Silent	SNP	ENST00000381854.3	37	c.120C>G	CCDS6454.1																																																																																				0.682	CDC37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051564.1	NM_017913	
KIAA2026	158358	broad.mit.edu	37	9	5922764	5922764	+	Missense_Mutation	SNP	G	G	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:5922764G>T	ENST00000399933.3	-	8	3231	c.3232C>A	c.(3232-3234)Ctt>Att	p.L1078I	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L1048I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1078										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTATTTTGAAGATCTATTGGC	0.418																																						uc003zjq.3																			0				ovary(2)|central_nervous_system(1)	3						c.(3232-3234)CTT>ATT		hypothetical protein LOC158358							124.0	113.0	116.0					9																	5922764		1877	4108	5985	SO:0001583	missense	158358							g.chr9:5922764G>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3232C>A	9.37:g.5922764G>T	ENSP00000382815:p.Leu1078Ile					KIAA2026_uc010mht.2_Missense_Mutation_p.L253I	p.L1078I	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	3448	-		Acute lymphoblastic leukemia(23;0.158)	1078					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.3232C>A		.	.	.	.	.	.	.	.	.	.	G	9.716	1.158441	0.21454	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.33	5.33	0.75918	.	0.122356	0.35739	N	0.003013	T	0.21103	0.0508	N	0.19112	0.55	0.24537	N	0.994084	P	0.38597	0.639	B	0.30029	0.11	T	0.23868	-1.0176	9	0.59425	D	0.04	-9.2035	11.0997	0.48166	0.0:0.1378:0.7194:0.1428	.	1078	Q5HYC2	K2026_HUMAN	I	1078;1048	.	ENSP00000370870:L1048I	L	-	1	0	KIAA2026	5912764	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.571000	0.36450	2.482000	0.83794	0.561000	0.74099	CTT		0.418	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
C9orf131	138724	broad.mit.edu	37	9	35044886	35044886	+	Missense_Mutation	SNP	T	T	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:35044886T>C	ENST00000312292.5	+	2	2307	c.2260T>C	c.(2260-2262)Tgc>Cgc	p.C754R	C9orf131_ENST00000421362.2_Missense_Mutation_p.C706R|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.C681R	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	754										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGGAGTAACGTGCCCAGGGGT	0.587																																						uc003zvw.2																			0					0						c.(2260-2262)TGC>CGC		hypothetical protein LOC138724 isoform A							88.0	89.0	88.0					9																	35044886		2203	4300	6503	SO:0001583	missense	138724							g.chr9:35044886T>C	BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.2260T>C	9.37:g.35044886T>C	ENSP00000308279:p.Cys754Arg					C9orf131_uc003zvu.2_Missense_Mutation_p.C706R|C9orf131_uc003zvv.2_Missense_Mutation_p.C681R|C9orf131_uc003zvx.2_Missense_Mutation_p.C719R	p.C754R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)		2	2289	+	all_epithelial(49;0.22)		754					A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	ENST00000312292.5	37	c.2260T>C	CCDS6572.2	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619809	0.28801	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000435140	T;T;T	0.14391	2.51;2.51;2.51	4.4	-5.21	0.02815	.	1.445350	0.04518	N	0.384015	T	0.09158	0.0226	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.22080	0.064;0.064;0.064;0.064	B;B;B;B	0.12156	0.007;0.007;0.007;0.007	T	0.31280	-0.9949	10	0.25751	T	0.34	1.6274	1.7256	0.02921	0.1355:0.3451:0.2762:0.2432	.	229;754;681;706	B4DXT9;Q5VYM1;A6NLE6;E9PB26	.;CI131_HUMAN;.;.	R	706;681;754;229	ENSP00000393683:C706R;ENSP00000346472:C681R;ENSP00000308279:C754R	ENSP00000308279:C754R	C	+	1	0	C9orf131	35034886	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.179000	0.09768	-0.954000	0.03640	0.533000	0.62120	TGC		0.587	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052283.5	NM_203299	
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						uc004adb.2																			0											c.(388-390)ATG>ATC		RecName: Full=Contactin-associated protein-like 3B.; Flags: Fragment;																																				SO:0001583	missense	0							g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M130I							4	415	+								B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.390G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3		
FBP1	2203	broad.mit.edu	37	9	97380079	97380079	+	Missense_Mutation	SNP	C	C	T	rs368583779		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:97380079C>T	ENST00000375326.4	-	3	593	c.397G>A	c.(397-399)Gtt>Att	p.V133I	FBP1_ENST00000415431.1_Missense_Mutation_p.V133I	NM_000507.3	NP_000498.2	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	133					carbohydrate metabolic process (GO:0005975)|cellular response to drug (GO:0035690)|cellular response to magnesium ion (GO:0071286)|dephosphorylation (GO:0016311)|fructose 6-phosphate metabolic process (GO:0006002)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|negative regulation of cell growth (GO:0030308)|negative regulation of glycolytic process (GO:0045820)|negative regulation of Ras protein signal transduction (GO:0046580)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	AMP binding (GO:0016208)|fructose 1,6-bisphosphate 1-phosphatase activity (GO:0042132)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|monosaccharide binding (GO:0048029)			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATGGTTCCAACGGACACAAGG	0.388																																					Ovarian(142;590 2466 25593 44496)	uc004auw.3																			0					0						c.(397-399)GTT>ATT		fructose-1,6-bisphosphatase 1	Adenosine monophosphate(DB00131)	T	ILE/VAL,ILE/VAL	0,4406		0,0,2203	98.0	82.0	87.0		397,397	6.0	1.0	9		87	1,8599	819.2+/-406.8	0,1,4299	no	missense,missense	FBP1	NM_000507.3,NM_001127628.1	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	133/339,133/339	97380079	1,13005	2203	4300	6503	SO:0001583	missense	2203				gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding	g.chr9:97380079C>T	M19922	CCDS6712.1	9q22.3	2012-08-13			ENSG00000165140	ENSG00000165140	3.1.3.11		3606	protein-coding gene	gene with protein product		611570		FBP		8387495	Standard	NM_000507		Approved		uc004auw.4	P09467	OTTHUMG00000020268	ENST00000375326.4:c.397G>A	9.37:g.97380079C>T	ENSP00000364475:p.Val133Ile					FBP1_uc010mrl.2_Missense_Mutation_p.V133I	p.V133I	NM_000507	NP_000498	P09467	F16P1_HUMAN			3	728	-		Acute lymphoblastic leukemia(62;0.136)	133					O75571|Q53F94|Q96E46	Missense_Mutation	SNP	ENST00000375326.4	37	c.397G>A	CCDS6712.1	.	.	.	.	.	.	.	.	.	.	T	10.25	1.298078	0.23650	0.0	1.16E-4	ENSG00000165140	ENST00000375326;ENST00000415431;ENST00000414122	T;T;T	0.77358	-1.09;-1.09;-1.09	6.01	6.01	0.97437	.	0.000000	0.85682	N	0.000000	T	0.53270	0.1786	N	0.04387	-0.21	0.24235	N	0.99538	B	0.02656	0.0	B	0.04013	0.001	T	0.34925	-0.9809	10	0.02654	T	1	-14.0541	12.3109	0.54927	0.0:0.0657:0.0:0.9343	.	133	P09467	F16P1_HUMAN	I	133;133;49	ENSP00000364475:V133I;ENSP00000408025:V133I;ENSP00000411619:V49I	ENSP00000364475:V133I	V	-	1	0	FBP1	96419900	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.016000	0.64041	1.102000	0.41551	-0.269000	0.10298	GTT		0.388	FBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053187.1	NM_000507	
ZFX	7543	broad.mit.edu	37	X	24229156	24229156	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:24229156A>C	ENST00000379177.1	+	11	2508	c.2081A>C	c.(2080-2082)cAt>cCt	p.H694P	ZFX_ENST00000338565.3_Missense_Mutation_p.H644P|ZFX_ENST00000379188.3_Missense_Mutation_p.H694P|ZFX_ENST00000539115.1_Missense_Mutation_p.H465P|ZFX_ENST00000304543.5_Missense_Mutation_p.H694P|ZFX_ENST00000540034.1_Missense_Mutation_p.H733P	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	694					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAGTGTAGACATTGTGACTTT	0.433																																					Esophageal Squamous(20;306 562 7346 32868 37983)	uc004dbf.2																			0				ovary(2)	2						c.(2080-2082)CAT>CCT		zinc finger protein, X-linked							150.0	131.0	138.0					X																	24229156		2203	4300	6503	SO:0001583	missense	7543				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chrX:24229156A>C		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.2081A>C	X.37:g.24229156A>C	ENSP00000368475:p.His694Pro					ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Missense_Mutation_p.H733P|ZFX_uc010nfz.2_Missense_Mutation_p.H350P	p.H694P	NM_003410	NP_003401	P17010	ZFX_HUMAN			9	2339	+			694			C2H2-type 10.		B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	ENST00000379177.1	37	c.2081A>C	CCDS14211.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619362	0.46736	.	.	ENSG00000005889	ENST00000539115;ENST00000379188;ENST00000535562;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43	4.58	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000002	T	0.45657	0.1353	M	0.86268	2.805	0.58432	D	0.999991	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.91635	0.999;0.994;0.997	T	0.53165	-0.8477	10	0.72032	D	0.01	-0.0106	13.401	0.60883	1.0:0.0:0.0:0.0	.	733;416;694	B9EG97;F5GYV7;P17010	.;.;ZFX_HUMAN	P	465;694;416;694;694;733;644	ENSP00000438233:H465P;ENSP00000368486:H694P;ENSP00000368475:H694P;ENSP00000304985:H694P;ENSP00000441382:H733P;ENSP00000343384:H644P	ENSP00000304985:H694P	H	+	2	0	ZFX	24139077	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	1.603000	0.50134	0.481000	0.45027	CAT		0.433	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056084.1	NM_003410	
HDAC6	10013	broad.mit.edu	37	X	48681101	48681101	+	Silent	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:48681101A>C	ENST00000334136.5	+	24	2587	c.2409A>C	c.(2407-2409)ccA>ccC	p.P803P	HDAC6_ENST00000376619.2_Silent_p.P803P|HDAC6_ENST00000444343.2_Silent_p.P817P			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	803					aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)	p.P803P(2)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAGACCCACCACCCCTGCTGA	0.587																																					Pancreas(112;205 1675 2305 8976 15959)	uc011mmi.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2407-2409)CCA>CCC		histone deacetylase 6	Vorinostat(DB02546)						47.0	41.0	43.0					X																	48681101		2203	4300	6503	SO:0001819	synonymous_variant	10013				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	g.chrX:48681101A>C	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2409A>C	X.37:g.48681101A>C						HDAC6_uc004dks.1_Silent_p.P803P|HDAC6_uc010nig.1_Silent_p.P651P|HDAC6_uc004dkt.1_Silent_p.P803P|HDAC6_uc011mmk.1_Silent_p.P784P|HDAC6_uc004dkv.1_Silent_p.P451P|HDAC6_uc004dkw.1_Silent_p.P451P|HDAC6_uc004dkx.1_Silent_p.P166P	p.P803P	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN			24	2504	+			803					O94975|Q6NT75|Q7L3E5|Q96CY0	Silent	SNP	ENST00000334136.5	37	c.2409A>C	CCDS14306.1																																																																																				0.587	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083394.2	NM_006044	
IL1RAPL2	26280	broad.mit.edu	37	X	105011638	105011638	+	Missense_Mutation	SNP	C	C	T			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:105011638C>T	ENST00000372582.1	+	11	2801	c.2045C>T	c.(2044-2046)aCc>aTc	p.T682I	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.T682I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	682					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGCTTTACCAGTGATATT	0.393																																						uc004elz.1																			0				breast(2)|ovary(1)	3						c.(2044-2046)ACC>ATC		interleukin 1 receptor accessory protein-like 2							78.0	78.0	78.0					X																	105011638		2203	4299	6502	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011638C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.2045C>T	X.37:g.105011638C>T	ENSP00000361663:p.Thr682Ile						p.T682I	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2801	+			682			Cytoplasmic (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.2045C>T	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682761	0.68157	.	.	ENSG00000189108	ENST00000372582;ENST00000344799;ENST00000538500	T;T;T	0.04654	3.87;3.87;3.58	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.11623	0.0283	L	0.54323	1.7	0.58432	D	0.999991	P	0.50617	0.937	P	0.48654	0.585	T	0.00245	-1.1882	10	0.87932	D	0	.	17.8727	0.88815	0.0:1.0:0.0:0.0	.	682	Q9NP60	IRPL2_HUMAN	I	682;682;287	ENSP00000361663:T682I;ENSP00000344976:T682I;ENSP00000445576:T287I	ENSP00000344976:T682I	T	+	2	0	IL1RAPL2	104898294	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.487000	0.81328	2.441000	0.82636	0.600000	0.82982	ACC		0.393	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416	
L1CAM	3897	broad.mit.edu	37	X	153141260	153141260	+	Missense_Mutation	SNP	A	A	C			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:153141260A>C	ENST00000370060.1	-	2	221	c.32T>G	c.(31-33)cTc>cGc	p.L11R	L1CAM_ENST00000361699.4_Missense_Mutation_p.L11R|L1CAM_ENST00000361981.3_Missense_Mutation_p.L11R|L1CAM_ENST00000370057.3_Missense_Mutation_p.L11R|L1CAM_ENST00000538883.1_Missense_Mutation_p.L11R|L1CAM_ENST00000543994.1_Missense_Mutation_p.L11R|L1CAM_ENST00000370055.1_Missense_Mutation_p.L11R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	11					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGAGGAGAGGCCACAC	0.682											OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc004fjb.2																			0				ovary(8)|central_nervous_system(1)	9						c.(31-33)CTC>CGC		L1 cell adhesion molecule isoform 1 precursor							76.0	59.0	65.0					X																	153141260		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153141260A>C	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.32T>G	X.37:g.153141260A>C	ENSP00000359077:p.Leu11Arg		OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1753	L1CAM_uc004fjc.2_Missense_Mutation_p.L11R|L1CAM_uc010nuo.2_Missense_Mutation_p.L11R|L1CAM_uc004fje.1_Missense_Mutation_p.L11R	p.L11R	NM_000425	NP_000416	P32004	L1CAM_HUMAN			1	140	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		11					A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.32T>G	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087632	0.76642	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;D;D;D	0.86030	-0.02;-0.03;-0.02;-0.02;-0.02;-0.02;-0.03;-1.38;-1.89;-2.06;-1.88	4.73	4.73	0.59995	.	0.000000	0.30277	N	0.009985	T	0.82213	0.4988	N	0.08118	0	0.27667	N	0.946879	D;D;D	0.71674	0.998;0.998;0.997	D;P;D	0.69479	0.964;0.905;0.947	T	0.75619	-0.3255	10	0.66056	D	0.02	.	9.6867	0.40103	1.0:0.0:0.0:0.0	.	11;11;11	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	R	11	ENSP00000359077:L11R;ENSP00000438430:L11R;ENSP00000359074:L11R;ENSP00000439645:L11R;ENSP00000354712:L11R;ENSP00000359072:L11R;ENSP00000355380:L11R;ENSP00000402407:L11R;ENSP00000384902:L11R;ENSP00000392524:L11R;ENSP00000396079:L11R	ENSP00000355380:L11R	L	-	2	0	L1CAM	152794454	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.329000	0.59260	1.548000	0.49413	0.381000	0.24937	CTC		0.682	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003	
