#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAM21	8747	broad.mit.edu	37	14	70925981	70925981	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr14:70925981A>T	ENST00000603540.1	+	2	2023	c.1765A>T	c.(1765-1767)Acc>Tcc	p.T589S	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.T589S	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	589	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T589S(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CAATGGTGTCACCTGCTGGGG	0.418																																																	2	Substitution - Missense(2)	kidney(2)											103.0	99.0	100.0					14																	70925981		2203	4300	6503	SO:0001583	missense	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.1765A>T	14.37:g.70925981A>T	ENSP00000474385:p.Thr589Ser	Somatic		WXS	Illumina GAIIx	Phase_I	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	A	5.708	0.315227	0.10789	.	.	ENSG00000139985	ENST00000267499	T	0.22134	1.97	4.49	3.32	0.38043	ADAM, cysteine-rich (2);	0.546529	0.14901	U	0.291809	T	0.19525	0.0469	L	0.48986	1.54	0.09310	N	1	B	0.16603	0.018	B	0.27608	0.081	T	0.25257	-1.0137	10	0.25751	T	0.34	.	7.5007	0.27516	0.7125:0.1468:0.0:0.1407	.	589	Q9UKJ8	ADA21_HUMAN	S	589	ENSP00000267499:T589S	ENSP00000267499:T589S	T	+	1	0	ADAM21	69995734	0.000000	0.05858	1.000000	0.80357	0.555000	0.35460	0.277000	0.18734	0.830000	0.34757	0.460000	0.39030	ACC		0.418	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			
ANKHD1	54882	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	139866633	139866633	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:139866633G>A	ENST00000360839.2	+	14	2387	c.2233G>A	c.(2233-2235)Gga>Aga	p.G745R	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G745R|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G745R	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	745						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.G745R(2)|p.G209R(1)		breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCCTTTTAGGAGTGCAAAA	0.388																																																	3	Substitution - Missense(3)	kidney(3)											67.0	62.0	64.0					5																	139866633		2203	4300	6503	SO:0001583	missense	404734			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2233G>A	5.37:g.139866633G>A	ENSP00000354085:p.Gly745Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411411	0.62399	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000235510;ENST00000421134;ENST00000412116;ENST00000532219	T;T;T;T;T	0.66280	-0.03;-0.07;0.01;-0.2;-0.07	5.14	5.14	0.70334	Ankyrin repeat-containing domain (1);	0.333501	0.27664	N	0.018361	T	0.58949	0.2158	N	0.22421	0.69	0.42876	D	0.994159	P;D;P;P;P	0.71674	0.761;0.998;0.744;0.935;0.89	B;P;B;P;P	0.59703	0.24;0.862;0.289;0.465;0.465	T	0.52939	-0.8508	10	0.13853	T	0.58	.	11.2885	0.49237	0.0842:0.0:0.9157:0.0	.	209;745;764;745;745	E7ET58;Q8IWZ3-4;E9PDP5;Q8IWZ2;Q8IWZ3	.;.;.;.;ANKH1_HUMAN	R	745;778;745;745;279;209;764;151;745	ENSP00000354085:G745R;ENSP00000297183:G745R;ENSP00000394489:G764R;ENSP00000405602:G151R;ENSP00000432016:G745R	ENSP00000432016:G745R	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139846817	1.000000	0.71417	0.988000	0.46212	0.823000	0.46562	5.523000	0.67099	2.383000	0.81215	0.561000	0.74099	GGA		0.388	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1		NM_017747	
ATG101	60673	hgsc.bcm.edu	37	12	52467675	52467697	+	Splice_Site	DEL	GGGGAGTTCAAGGTAAGGGTGTC	GGGGAGTTCAAGGTAAGGGTGTC	-	rs143921343|rs372834432|rs201392245|rs77525659	byFrequency	TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	GGGGAGTTCAAGGTAAGGGTGTC	GGGGAGTTCAAGGTAAGGGTGTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr12:52467675_52467697delGGGGAGTTCAAGGTAAGGGTGTC	ENST00000336854.4	+	3	719_730	c.241_252delGGGGAGTTCAAGGTAAGGGTGTC	c.(241-252)ggggagttcaagdel	p.GEFK81fs	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		81					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CAAGGTTGTTGGGGAGTTCAAGGTAAGGGTGTCGGGGAGTTCA	0.565														310	0.061901	0.1263	0.0836	5008	,	,		24693	0.0		0.0467	False		,,,				2504	0.0389																0									,	399,3857		31,337,1760					,	-5.5	0.9		dbSNP_134	131	327,7927		15,297,3815	no	frameshift-near-splice,frameshift-near-splice	C12orf44	NM_021934.4,NM_001098673.1	,	46,634,5575	A1A1,A1R,RR		3.9617,9.375,5.8034	,	,		726,11784				SO:0001630	splice_region_variant	60673																														ENST00000336854.4:c.252+1GGGGAGTTCAAGGTAAGGGTGTC>-	12.37:g.52467675_52467697delGGGGAGTTCAAGGTAAGGGTGTC		Somatic		WXS	Illumina HiSeq	Phase_I	Q9HAE2|Q9HBN1	Frame_Shift_Del	DEL	ENST00000336854.4	37	CCDS8820.1																																																																																				0.565	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405063.1			Frame_Shift_Del
LRRC74A	145497	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	77327095	77327095	+	Silent	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr14:77327095G>A	ENST00000393774.3	+	11	1288	c.1164G>A	c.(1162-1164)ccG>ccA	p.P388P		NM_194287.2	NP_919263.2												p.P388P(2)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CCGTTCACCCGCAGCTGGACG	0.537																																					Ovarian(165;1056 1958 32571 36789 48728)												2	Substitution - coding silent(2)	lung(1)|kidney(1)											121.0	125.0	123.0					14																	77327095		2088	4207	6295	SO:0001819	synonymous_variant	145497																														ENST00000393774.3:c.1164G>A	14.37:g.77327095G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000393774.3	37	CCDS9853.2																																																																																				0.537	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			
C3orf67	200844	broad.mit.edu;hgsc.bcm.edu	37	3	58923375	58923375	+	Splice_Site	SNP	A	A	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:58923375A>C	ENST00000482387.1	-	1	113	c.17T>G	c.(16-18)aTt>aGt	p.I6S	C3orf67_ENST00000295966.7_Splice_Site_p.I6S|RP11-147N17.1_ENST00000493123.1_RNA|C3orf67_ENST00000491845.1_Splice_Site_p.I6S|C3orf67_ENST00000472469.1_5'UTR|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	6								p.I6S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GATACTTACAATTTTACGTTT	0.338																																																	1	Substitution - Missense(1)	kidney(1)											137.0	142.0	140.0					3																	58923375		2203	4300	6503	SO:0001630	splice_region_variant	200844			AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.18+1T>G	3.37:g.58923375A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37		.	.	.	.	.	.	.	.	.	.	A	10.43	1.347021	0.24426	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000491845;ENST00000471288	T;T;T;T	0.54071	0.59;0.59;1.08;0.59	5.97	5.97	0.96955	.	0.294348	0.33534	N	0.004814	T	0.66567	0.2802	L	0.48642	1.525	0.51767	D	0.999937	D	0.89917	1.0	D	0.77004	0.989	T	0.64322	-0.6435	9	.	.	.	-16.3636	16.43	0.83839	1.0:0.0:0.0:0.0	.	6	Q6ZVT6-2	.	S	6;6;6;131	ENSP00000295966:I6S;ENSP00000417122:I6S;ENSP00000418832:I6S;ENSP00000417639:I131S	.	I	-	2	0	C3orf67	58898415	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	7.407000	0.80029	2.283000	0.76528	0.533000	0.62120	ATT		0.338	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1		NM_198463	Missense_Mutation
C7	730	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	40947837	40947837	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:40947837C>A	ENST00000313164.9	+	8	1231	c.872C>A	c.(871-873)gCc>gAc	p.A291D		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	291	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.A291D(1)					Ovarian(839;0.0112)				GACTACAGTGCCTACCGAAGA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											89.0	85.0	87.0					5																	40947837		1846	4091	5937	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.872C>A	5.37:g.40947837C>A	ENSP00000322061:p.Ala291Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430027	0.83776	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	D	0.84944	-1.92	5.9	5.9	0.94986	Membrane attack complex component/perforin (MACPF) domain (3);	0.053142	0.85682	D	0.000000	D	0.89497	0.6732	L	0.59436	1.845	0.54753	D	0.999987	D	0.71674	0.998	D	0.69479	0.964	D	0.86781	0.1979	10	0.27785	T	0.31	-18.6717	13.6854	0.62513	0.0:0.9271:0.0:0.0729	.	291	P10643	CO7_HUMAN	D	291	ENSP00000322061:A291D	ENSP00000322061:A291D	A	+	2	0	C7	40983594	0.991000	0.36638	1.000000	0.80357	0.903000	0.53119	3.542000	0.53625	2.786000	0.95864	0.650000	0.86243	GCC		0.423	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			
CCDC180	100499483	hgsc.bcm.edu	37	9	100092962	100092962	+	Silent	SNP	G	G	A	rs9697229		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr9:100092962G>A	ENST00000357054.1	+	32	3671	c.2736G>A	c.(2734-2736)aaG>aaA	p.K912K	CCDC180_ENST00000460482.2_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Silent_p.K773K|CCDC180_ENST00000529487.1_Silent_p.K773K|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000411667.2_Silent_p.K770K			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	912	Glu-rich.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											aagatgagaaggaggaagagg	0.512																																																	0													48.0	57.0	54.0					9																	100092962		2203	4299	6502	SO:0001819	synonymous_variant	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.2736G>A	9.37:g.100092962G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37																																																																																					0.512	CCDC180-201	KNOWN	basic	protein_coding	protein_coding			NM_020893	
CAPSL	133690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	35921149	35921149	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:35921149G>C	ENST00000397367.2	-	2	200	c.74C>G	c.(73-75)cCc>cGc	p.P25R	CAPSL_ENST00000514524.1_Missense_Mutation_p.P25R|CAPSL_ENST00000397366.1_Missense_Mutation_p.P25R	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	25						cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.P25R(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCTTTCAATGGGGTCGGTGGC	0.602																																																	2	Substitution - Missense(2)	kidney(2)											109.0	94.0	99.0					5																	35921149		2203	4300	6503	SO:0001583	missense	133690			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.74C>G	5.37:g.35921149G>C	ENSP00000380524:p.Pro25Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000397367.2	37	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	G	26.8	4.771186	0.90108	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	D;D;D;T	0.83335	-1.63;-1.63;-1.71;0.47	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.91905	0.7437	M	0.89095	3.005	0.80722	D	1	D	0.63046	0.992	D	0.64237	0.923	D	0.93506	0.6849	10	0.72032	D	0.01	-13.0973	17.813	0.88622	0.0:0.0:1.0:0.0	.	25	Q8WWF8	CAPSL_HUMAN	R	25	ENSP00000380524:P25R;ENSP00000380523:P25R;ENSP00000424806:P25R;ENSP00000421018:P25R	ENSP00000380523:P25R	P	-	2	0	CAPSL	35956906	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	8.620000	0.90943	2.367000	0.80283	0.563000	0.77884	CCC		0.602	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2		NM_144647	
CLSTN2	64084	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	140122627	140122627	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:140122627G>C	ENST00000458420.3	+	3	579	c.389G>C	c.(388-390)gGt>gCt	p.G130A	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.G130A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TATGACTGTGGTGCTGGGCCC	0.587										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												1	Substitution - Missense(1)	kidney(1)											102.0	96.0	98.0					3																	140122627		2203	4300	6503	SO:0001583	missense	64084			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.389G>C	3.37:g.140122627G>C	ENSP00000402460:p.Gly130Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768523	0.90020	.	.	ENSG00000158258	ENST00000458420	T	0.50001	0.76	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.72179	0.3428	M	0.83852	2.665	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.75755	-0.3206	10	0.72032	D	0.01	-20.5607	17.2112	0.86930	0.0:0.0:1.0:0.0	.	130	Q9H4D0	CSTN2_HUMAN	A	130	ENSP00000402460:G130A	ENSP00000402460:G130A	G	+	2	0	CLSTN2	141605317	1.000000	0.71417	0.964000	0.40570	0.915000	0.54546	9.338000	0.96553	2.653000	0.90120	0.655000	0.94253	GGT		0.587	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3		NM_022131	
CLUAP1	23059	hgsc.bcm.edu	37	16	3580641	3580642	+	Frame_Shift_Ins	INS	-	-	A	rs202181650|rs139725084		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr16:3580641_3580642insA	ENST00000576634.1	+	10	1146_1147	c.1002_1003insA	c.(1003-1005)aagfs	p.K335fs	CLUAP1_ENST00000572600.1_Frame_Shift_Ins_p.K169fs|CLUAP1_ENST00000445795.2_Frame_Shift_Ins_p.K94fs|CLUAP1_ENST00000571025.1_Frame_Shift_Ins_p.K335fs|CLUAP1_ENST00000417763.2_Frame_Shift_Ins_p.K169fs|CLUAP1_ENST00000341633.5_Frame_Shift_Ins_p.K335fs	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	335					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GGCGGCTGCCCAAGCCACAGAC	0.559																																																	0																																										SO:0001589	frameshift_variant	23059			BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.1004dupA	16.37:g.3580643_3580643dupA	ENSP00000460850:p.Lys335fs	Somatic		WXS	Illumina HiSeq	Phase_I	O75138|Q65ZA3|Q9H8R4|Q9H8T1	Frame_Shift_Ins	INS	ENST00000576634.1	37	CCDS32381.1																																																																																				0.559	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2		NM_024793	
CTXN2	399697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	48493508	48493508	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr15:48493508C>A	ENST00000417307.2	+	2	383	c.11C>A	c.(10-12)aCc>aAc	p.T4N	CTXN2_ENST00000541248.1_Missense_Mutation_p.T4N|RP11-605F22.1_ENST00000559875.1_RNA	NM_001145668.1	NP_001139140.1	P0C2S0	CTXN2_HUMAN	cortexin 2	4						integral component of membrane (GO:0016021)		p.T4N(2)		endometrium(1)|kidney(1)	2						ATGAGTAGTACCTACTGTGGC	0.408																																																	2	Substitution - Missense(2)	kidney(2)											187.0	143.0	156.0					15																	48493508		687	1588	2275	SO:0001583	missense	399697			BK004876	CCDS45254.1	15q21.1	2013-09-20			ENSG00000233932	ENSG00000233932			31109	protein-coding gene	gene with protein product							Standard	NM_001145668		Approved		uc001zwm.1	P0C2S0	OTTHUMG00000172152	ENST00000417307.2:c.11C>A	15.37:g.48493508C>A	ENSP00000406145:p.Thr4Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000417307.2	37	CCDS45254.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223266	0.39300	.	.	ENSG00000233932	ENST00000417307;ENST00000541248	T;T	0.32272	1.46;1.46	5.67	-1.71	0.08133	.	.	.	.	.	T	0.15349	0.0370	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18681	-1.0329	8	0.34782	T	0.22	0.8574	0.5801	0.00710	0.3205:0.2037:0.1151:0.3607	.	4	P0C2S0	CTXN2_HUMAN	N	4	ENSP00000406145:T4N;ENSP00000445900:T4N	ENSP00000406145:T4N	T	+	2	0	CTXN2	46280800	0.995000	0.38212	0.950000	0.38849	0.980000	0.70556	0.863000	0.27913	-0.151000	0.11176	-0.218000	0.12543	ACC		0.408	CTXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417125.1			
DAGLA	747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61504731	61504731	+	Silent	SNP	C	C	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr11:61504731C>T	ENST00000257215.5	+	14	1565	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	483					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.F483F(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCCTCTCCTTCCTTCTGCGCC	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											159.0	168.0	165.0					11																	61504731		2202	4299	6501	SO:0001819	synonymous_variant	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1449C>T	11.37:g.61504731C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7E233|Q6WQJ0	Silent	SNP	ENST00000257215.5	37	CCDS31578.1																																																																																				0.647	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1		NM_006133	
DEDD	9191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161093708	161093708	+	Silent	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:161093708C>A	ENST00000368006.3	-	4	568	c.354G>T	c.(352-354)ctG>ctT	p.L118L	DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000458050.2_Silent_p.L118L|DEDD_ENST00000490843.2_Silent_p.L118L|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000545495.1_Silent_p.L118L|DEDD_ENST00000392188.1_Silent_p.L118L|DEDD_ENST00000368005.1_Silent_p.L118L	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	118					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.L118L(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATGTCTCCTCCAGATACTTGT	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	129.0	131.0					1																	161093708		2203	4300	6503	SO:0001819	synonymous_variant	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.354G>T	1.37:g.161093708C>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DVF5|O60737	Silent	SNP	ENST00000368006.3	37	CCDS1219.1																																																																																				0.507	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1		NM_004216	
DPEP2	64174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	68026474	68026474	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr16:68026474C>T	ENST00000572888.1	-	2	979	c.329G>A	c.(328-330)cGc>cAc	p.R110H	DPEP2_ENST00000412757.2_Missense_Mutation_p.R110H|DPEP2_ENST00000393847.1_Missense_Mutation_p.R110H			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	110					arachidonic acid metabolic process (GO:0019369)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)	p.R110H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GCTGAAATTGCGCAGGTTAAC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											108.0	97.0	101.0					16																	68026474		2198	4300	6498	SO:0001583	missense	64174			AJ295149	CCDS10857.1	16q22.1	2011-07-22			ENSG00000167261	ENSG00000167261	3.4.13.19		23028	protein-coding gene	gene with protein product		609925					Standard	NM_022355		Approved		uc002eve.4	Q9H4A9	OTTHUMG00000137542	ENST00000572888.1:c.329G>A	16.37:g.68026474C>T	ENSP00000458977:p.Arg110His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCF8|Q6UX92|Q8TC95	Missense_Mutation	SNP	ENST00000572888.1	37	CCDS10857.1	.	.	.	.	.	.	.	.	.	.	C	8.983	0.975922	0.18736	.	.	ENSG00000167261	ENST00000393847;ENST00000412757	T;T	0.22336	1.96;1.96	3.69	-5.94	0.02247	.	0.656676	0.14730	N	0.301814	T	0.14830	0.0358	L	0.48986	1.54	0.19775	N	0.999959	B	0.09022	0.002	B	0.10450	0.005	T	0.12967	-1.0527	10	0.36615	T	0.2	-0.1142	8.5209	0.33275	0.1232:0.204:0.0:0.6729	.	110	Q9H4A9	DPEP2_HUMAN	H	110	ENSP00000377430:R110H;ENSP00000412549:R110H	ENSP00000377430:R110H	R	-	2	0	DPEP2	66583975	0.000000	0.05858	0.568000	0.28447	0.725000	0.41563	-2.589000	0.00900	-1.411000	0.02032	-1.036000	0.02392	CGC		0.587	DPEP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437026.1		NM_022355	
EHD1	10938	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64645686	64645686	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr11:64645686G>A	ENST00000320631.3	-	1	505	c.251C>T	c.(250-252)cCg>cTg	p.P84L	EHD1_ENST00000359393.2_Missense_Mutation_p.P84L	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	84	Dynamin-type G.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)	p.P84L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GCGCATCCCCGGGAAGTCCTG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											128.0	95.0	106.0					11																	64645686		2201	4297	6498	SO:0001583	missense	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.251C>T	11.37:g.64645686G>A	ENSP00000320516:p.Pro84Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	ENST00000320631.3	37	CCDS8084.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540620	0.85917	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000433803;ENST00000457202;ENST00000411683	D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05	3.64	3.64	0.41730	Dynamin, GTPase domain (1);	0.063221	0.64402	D	0.000005	D	0.96568	0.8880	L	0.60012	1.86	0.80722	D	1	D;D	0.61697	0.99;0.99	P;P	0.58077	0.832;0.832	D	0.96427	0.9316	10	0.62326	D	0.03	-42.1717	13.6262	0.62165	0.0:0.0:1.0:0.0	.	84;84	B2R5U3;Q9H4M9	.;EHD1_HUMAN	L	84;84;60;98;98;84;84	ENSP00000320516:P84L;ENSP00000352354:P84L;ENSP00000404944:P98L;ENSP00000399022:P84L;ENSP00000403830:P84L	ENSP00000320516:P84L	P	-	2	0	EHD1	64402262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.637000	0.83313	2.333000	0.79357	0.561000	0.74099	CCG		0.657	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143229.2		NM_006795	
EHBP1L1	254102	broad.mit.edu;ucsc.edu	37	11	65349886	65349886	+	Silent	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr11:65349886G>A	ENST00000309295.4	+	9	2008	c.1743G>A	c.(1741-1743)gtG>gtA	p.V581V		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	581	Glu-rich.					membrane (GO:0016020)		p.V581V(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTTGGAGGTGCTGGGAACCC	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											26.0	30.0	29.0					11																	65349886		1898	4124	6022	SO:0001819	synonymous_variant	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1743G>A	11.37:g.65349886G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	CCDS44649.1																																																																																				0.567	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1		XM_170658	
F13B	2165	broad.mit.edu;ucsc.edu	37	1	197029544	197029544	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:197029544T>C	ENST00000367412.1	-	5	800	c.757A>G	c.(757-759)Att>Gtt	p.I253V		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	253	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.I253V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAGCATTGAATTAAATCAGAT	0.318																																																	1	Substitution - Missense(1)	kidney(1)											75.0	84.0	81.0					1																	197029544		2203	4293	6496	SO:0001583	missense	2165			M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.757A>G	1.37:g.197029544T>C	ENSP00000356382:p.Ile253Val	Somatic		WXS	Illumina GAIIx	Phase_I	A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	T	15.95	2.983640	0.53827	.	.	ENSG00000143278	ENST00000367412	T	0.68025	-0.3	5.76	4.63	0.57726	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.33572	N	0.004762	T	0.63271	0.2497	L	0.38692	1.165	0.48632	D	0.999686	P	0.35575	0.51	P	0.44772	0.46	T	0.60063	-0.7336	10	0.33940	T	0.23	.	11.9363	0.52876	0.0:0.0679:0.0:0.9321	.	253	P05160	F13B_HUMAN	V	253	ENSP00000356382:I253V	ENSP00000356382:I253V	I	-	1	0	F13B	195296167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.631000	0.54280	1.114000	0.41781	0.528000	0.53228	ATT		0.318	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2		NM_001994	
FAM200A	221786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99145313	99145313	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr7:99145313G>A	ENST00000449309.1	-	2	1097	c.718C>T	c.(718-720)Cac>Tac	p.H240Y		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	240						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.H240Y(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						ataaaacagtgattccaaaca	0.343																																																	1	Substitution - Missense(1)	kidney(1)											82.0	85.0	84.0					7																	99145313		1553	2706	4259	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.718C>T	7.37:g.99145313G>A	ENSP00000411372:p.His240Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.588033	0.46110	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	D;D	0.84730	-1.89;-1.89	2.28	2.28	0.28536	Ribonuclease H-like (1);	0.000000	0.52532	D	0.000076	D	0.89801	0.6820	M	0.75777	2.31	0.22648	N	0.998898	D	0.89917	1.0	D	0.91635	0.999	T	0.79482	-0.1785	10	0.59425	D	0.04	.	8.1329	0.31037	0.0:0.0:1.0:0.0	.	240	Q8TCP9	F200A_HUMAN	Y	240	ENSP00000411372:H240Y;ENSP00000386191:H240Y	ENSP00000386191:H240Y	H	-	1	0	FAM200A	98983249	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	2.286000	0.43496	1.571000	0.49722	0.591000	0.81541	CAC		0.343	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1		NM_145111	
NUTM2F	54754	hgsc.bcm.edu	37	9	97080947	97080948	+	Frame_Shift_Del	DEL	AA	AA	-	rs150455117|rs112857574|rs199550948	byFrequency	TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr9:97080947_97080948delAA	ENST00000253262.4	-	7	2090_2091	c.2070_2071delTT	c.(2068-2073)ccttctfs	p.S691fs	NUTM2F_ENST00000341207.4_Frame_Shift_Del_p.S676fs|NUTM2F_ENST00000335456.7_Intron	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.P556P(1)|p.S557delS(1)									CTGGCAGGAGAAGGTGATGGGC	0.619																																																	2	Substitution - coding silent(1)|Deletion - In frame(1)	prostate(1)|central_nervous_system(1)																																								SO:0001589	frameshift_variant	54754				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2070_2071delTT	9.37:g.97080947_97080948delAA	ENSP00000253262:p.Ser691fs	Somatic		WXS	Illumina HiSeq	Phase_I	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Frame_Shift_Del	DEL	ENST00000253262.4	37	CCDS47994.1																																																																																				0.619	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2		NM_017561	
GABRA4	2557	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	46976378	46976378	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr4:46976378T>C	ENST00000264318.3	-	6	1574	c.592A>G	c.(592-594)Agt>Ggt	p.S198G		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	198					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S198G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	ATCATCTCACTCTTTGGATAG	0.403																																					Ovarian(6;283 369 8234 12290 33402)												1	Substitution - Missense(1)	kidney(1)											98.0	91.0	93.0					4																	46976378		2203	4299	6502	SO:0001583	missense	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.592A>G	4.37:g.46976378T>C	ENSP00000264318:p.Ser198Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277124	0.80580	.	.	ENSG00000109158	ENST00000264318	T	0.80033	-1.33	5.25	5.25	0.73442	Neurotransmitter-gated ion-channel ligand-binding (3);	0.187160	0.56097	D	0.000022	D	0.86920	0.6049	L	0.60067	1.865	0.45205	D	0.998215	D	0.59357	0.985	D	0.66847	0.947	D	0.87975	0.2739	10	0.66056	D	0.02	.	14.4812	0.67585	0.0:0.0:0.0:1.0	.	198	P48169	GBRA4_HUMAN	G	198	ENSP00000264318:S198G	ENSP00000264318:S198G	S	-	1	0	GABRA4	46671135	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.940000	0.63533	2.201000	0.70794	0.528000	0.53228	AGT		0.403	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			
HOXB1	3211	hgsc.bcm.edu	37	17	46608184	46608185	+	In_Frame_Ins	INS	-	-	GGGCGCTGT	rs534792734|rs145570960	byFrequency	TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr17:46608184_46608185insGGGCGCTGT	ENST00000239174.6	-	1	174_175	c.82_83insACAGCGCCC	c.(82-84)cca>cACAGCGCCCca	p.27_28insHSA	HOXB1_ENST00000577092.1_In_Frame_Ins_p.27_28insHSA	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	27			A -> AHSA (in allele HOXB1*B). {ECO:0000269|PubMed:10671062, ECO:0000269|PubMed:11091361}.		anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.A27_P28insHSA(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AAAGGAGGTTGGGGCGCTGTGG	0.619														667	0.133187	0.1157	0.1225	5008	,	,		17469	0.0982		0.2008	False		,,,				2504	0.1309																1	Insertion - In frame(1)	lung(1)								528,3732		33,462,1635						4.2	1.0		dbSNP_134	66	1685,6565		171,1343,2611	no	coding	HOXB1	NM_002144.3		204,1805,4246	A1A1,A1R,RR		20.4242,12.3944,17.6898				2213,10297				SO:0001652	inframe_insertion	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.74_82dupACAGCGCCC	17.37:g.46608185_46608193dupGGGCGCTGT	ENSP00000355140:p.His25_Ala27dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VB03	In_Frame_Ins	INS	ENST00000239174.6	37	CCDS32675.1																																																																																				0.619	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			
IARS2	55699	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220318884	220318884	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:220318884C>A	ENST00000302637.5	+	22	2889	c.2785C>A	c.(2785-2787)Cag>Aag	p.Q929K	IARS2_ENST00000366922.1_Missense_Mutation_p.Q857K	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	929					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.Q929K(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CAGCACCTCTCAGTTGAATGA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											62.0	59.0	60.0					1																	220318884		2203	4300	6503	SO:0001583	missense	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2785C>A	1.37:g.220318884C>A	ENSP00000303279:p.Gln929Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Missense_Mutation	SNP	ENST00000302637.5	37	CCDS1523.1	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325748	0.60743	.	.	ENSG00000067704	ENST00000366922;ENST00000302637	T;T	0.11063	2.81;2.81	5.57	4.62	0.57501	Aminoacyl-tRNA synthetase, class 1a, anticodon-binding (1);	0.059697	0.64402	D	0.000001	T	0.07908	0.0198	N	0.19112	0.55	0.80722	D	1	P	0.39282	0.666	B	0.33339	0.162	T	0.28964	-1.0027	10	0.48119	T	0.1	-19.3765	16.4585	0.84029	0.0:0.8691:0.1309:0.0	.	929	Q9NSE4	SYIM_HUMAN	K	857;929	ENSP00000355889:Q857K;ENSP00000303279:Q929K	ENSP00000303279:Q929K	Q	+	1	0	IARS2	218385507	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.666000	0.61554	2.634000	0.89283	0.655000	0.94253	CAG		0.398	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_018060	
KCNAB1	7881	hgsc.bcm.edu;ucsc.edu	37	3	156009880	156009880	+	Intron	DEL	A	A	-			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:156009880delA	ENST00000490337.1	+	2	339				KCNAB1_ENST00000302490.8_Frame_Shift_Del_p.K62fs|KCNAB1_ENST00000471742.1_Intron|KCNAB1_ENST00000389634.5_Frame_Shift_Del_p.K62fs|KCNAB1_ENST00000389636.5_Intron	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1						learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATTTCTCTCAAAGAGTCCAC	0.562																																																	0													73.0	67.0	69.0					3																	156009880		2203	4300	6503	SO:0001627	intron_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.276-129525A>-	3.37:g.156009880delA		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Frame_Shift_Del	DEL	ENST00000490337.1	37	CCDS3174.1																																																																																				0.562	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1		NM_003471	
IST1	9798	hgsc.bcm.edu	37	16	71956529	71956529	+	Silent	SNP	C	C	T	rs28701631	byFrequency	TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr16:71956529C>T	ENST00000378799.6	+	7	1061	c.705C>T	c.(703-705)ccC>ccT	p.P235P	IST1_ENST00000535424.1_Silent_p.P248P|IST1_ENST00000606369.1_Silent_p.P87P|IST1_ENST00000378798.5_Silent_p.P235P|IST1_ENST00000538850.1_Silent_p.P87P|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000544564.1_Silent_p.P235P|IST1_ENST00000329908.8_Silent_p.P235P|IST1_ENST00000541571.2_Silent_p.P235P|IST1_ENST00000538565.1_3'UTR			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	233	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										tgcccatgcccatgcctatgc	0.483													C|||	230	0.0459265	0.0197	0.0274	5008	,	,		18639	0.0258		0.0427	False		,,,				2504	0.1186																0													101.0	73.0	83.0					16																	71956529		2198	4300	6498	SO:0001819	synonymous_variant	0			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.705C>T	16.37:g.71956529C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	CCDS59272.1	58	0.026556776556776556	9	0.018292682926829267	10	0.027624309392265192	25	0.043706293706293704	14	0.018469656992084433	C	6.629	0.484439	0.12641	.	.	ENSG00000182149	ENST00000541848	.	.	.	.	.	.	.	0.095345	0.85682	D	0.000000	T	0.22551	0.0544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12967	-1.0527	4	0.26408	T	0.33	-5.2082	.	.	.	rs28701631	.	.	.	L	122	.	ENSP00000437499:P122L	P	+	2	0	KIAA0174	70514030	0.004000	0.15560	0.997000	0.53966	0.971000	0.66376	-3.311000	0.00517	0.361000	0.24292	0.366000	0.22137	CCA		0.483	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2		NM_014761	
KIAA1244	57221	broad.mit.edu	37	6	138655319	138655319	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr6:138655319G>A	ENST00000251691.4	+	33	5502	c.5336G>A	c.(5335-5337)aGg>aAg	p.R1779K		NM_020340.4	NP_065073.3			KIAA1244									p.R1708K(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACTCTTATAGGACTGCCAGG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											33.0	35.0	35.0					6																	138655319		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.5336G>A	6.37:g.138655319G>A	ENSP00000251691:p.Arg1779Lys	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945719	0.73672	.	.	ENSG00000112379	ENST00000251691	T	0.17528	2.27	5.02	5.02	0.67125	.	0.264686	0.41712	D	0.000829	T	0.13841	0.0335	N	0.22421	0.69	0.50171	D	0.999855	D	0.64830	0.994	D	0.70716	0.97	T	0.01819	-1.1267	10	0.05959	T	0.93	-25.6408	18.3435	0.90313	0.0:0.0:1.0:0.0	.	1779	Q5TH69	BIG3_HUMAN	K	1779	ENSP00000251691:R1779K	ENSP00000251691:R1779K	R	+	2	0	KIAA1244	138697012	1.000000	0.71417	0.994000	0.49952	0.937000	0.57800	7.925000	0.87563	2.341000	0.79615	0.411000	0.27672	AGG		0.562	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		NM_020340	
RSU1P2	100133308	broad.mit.edu	37	10	45602513	45602513	+	RNA	SNP	T	T	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr10:45602513T>C	ENST00000423875.1	-	0	923									Ras suppressor protein 1 pseudogene 2																		GTCACTTAGATAGAGTGCACA	0.403																																																	0																																												0					10q11.21	2013-06-03			ENSG00000242848	ENSG00000232554			44391	pseudogene	pseudogene							Standard	NR_024472		Approved		uc009xmq.2		OTTHUMG00000185442		10.37:g.45602513T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000423875.1	37																																																																																					0.403	RSU1P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471233.1			
LIPK	643414	broad.mit.edu;hgsc.bcm.edu	37	10	90497391	90497391	+	Splice_Site	SNP	G	G	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr10:90497391G>T	ENST00000404190.1	+	6	669		c.e6-1			NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)	p.?(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TTATCTTGTAGGTGTTGTTTG	0.393																																																	2	Unknown(2)	kidney(2)											227.0	203.0	211.0					10																	90497391		1869	4101	5970	SO:0001630	splice_region_variant	643414				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.670-1G>T	10.37:g.90497391G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7KIH8	Splice_Site	SNP	ENST00000404190.1	37	CCDS44455.1	.	.	.	.	.	.	.	.	.	.	G	15.93	2.977313	0.53720	.	.	ENSG00000204021	ENST00000404190	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8919	0.79305	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LIPK	90487371	1.000000	0.71417	0.792000	0.32020	0.184000	0.23303	7.202000	0.77856	2.730000	0.93505	0.655000	0.94253	.		0.393	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049253.2		XM_061222	Intron
H3F3AP5	347376	broad.mit.edu	37	X	50648543	50648543	+	IGR	SNP	G	G	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chrX:50648543G>T								SHROOM4 (91241 upstream) : BMP15 (5240 downstream)														p.V164L(1)									TACTGGAGGGGTGAAGAAACC	0.498																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001628	intergenic_variant	0																															X.37:g.50648543G>T		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.498									
CSAG4	100130935	broad.mit.edu	37	X	151896050	151896050	+	RNA	SNP	G	G	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chrX:151896050G>T	ENST00000361201.4	-	0	680					NR_073432.1				CSAG family, member 4 (pseudogene)											endometrium(2)|kidney(2)|lung(1)	5						TCTACACCCTGTTGGCTATTT	0.448																																																	0																																												4111			BC013171		Xq28	2014-01-21	2012-04-19		ENSG00000242599	ENSG00000242599			20923	pseudogene	pseudogene			"""CSAG family, member 4"""				Standard	NR_073432		Approved				OTTHUMG00000022646		X.37:g.151896050G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000361201.4	37																																																																																					0.448	CSAG4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058758.2			
MCTP2	55784	hgsc.bcm.edu;ucsc.edu	37	15	95013580	95013580	+	Frame_Shift_Del	DEL	C	C	-	rs375490719		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr15:95013580delC	ENST00000357742.4	+	20	2379	c.2379delC	c.(2377-2379)gtcfs	p.V793fs	MCTP2_ENST00000451018.3_Frame_Shift_Del_p.V738fs	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	793					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			ACTGGACGGTCCCCTTCCTTT	0.403																																																	0													179.0	173.0	175.0					15																	95013580		2197	4298	6495	SO:0001589	frameshift_variant	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2379delC	15.37:g.95013580delC	ENSP00000350377:p.Val793fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Frame_Shift_Del	DEL	ENST00000357742.4	37	CCDS32338.1																																																																																				0.403	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3		NM_018349	
MECOM	2122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	168849313	168849314	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:168849313_168849314delAG	ENST00000494292.1	-	4	613_614	c.516_517delCT	c.(514-519)ttctatfs	p.FY172fs	MECOM_ENST00000472280.1_5'UTR|MECOM_ENST00000464456.1_5'UTR|MECOM_ENST00000460814.1_5'UTR|MECOM_ENST00000433243.2_5'UTR|MECOM_ENST00000392736.3_5'UTR|MECOM_ENST00000468789.1_5'UTR|MECOM_ENST00000264674.3_Frame_Shift_Del_p.FY48fs	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ACTACTCTATAGAATATCTTTA	0.406																																																	0																																										SO:0001589	frameshift_variant	2122			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.516_517delCT	3.37:g.168849313_168849314delAG	ENSP00000417899:p.Phe172fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q13466|Q6FH90	Frame_Shift_Del	DEL	ENST00000494292.1	37																																																																																					0.406	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3		NM_005241, NM_004991	
STEAP1B	256227	broad.mit.edu;hgsc.bcm.edu	37	7	22534457	22534457	+	Missense_Mutation	SNP	G	G	T	rs543751768	byFrequency	TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr7:22534457G>T	ENST00000406890.2	-	2	112	c.18C>A	c.(16-18)gaC>gaA	p.D6E	STEAP1B_ENST00000404369.4_Missense_Mutation_p.D6E	NM_207342.2	NP_997225.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	6						integral component of membrane (GO:0016021)		p.D6E(2)		endometrium(1)|kidney(1)|lung(2)	4						GGTTTGTGATGTCTTTTCTGC	0.259																																																	2	Substitution - Missense(2)	kidney(2)											128.0	105.0	112.0					7																	22534457		692	1590	2282	SO:0001583	missense	0				CCDS55094.1, CCDS56469.1	7p15.3	2011-05-19			ENSG00000105889	ENSG00000105889			41907	protein-coding gene	gene with protein product							Standard	NM_207342		Approved		uc010kum.2	Q6NZ63	OTTHUMG00000152529	ENST00000406890.2:c.18C>A	7.37:g.22534457G>T	ENSP00000385239:p.Asp6Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B5MCI2	Missense_Mutation	SNP	ENST00000406890.2	37	CCDS55094.1	.	.	.	.	.	.	.	.	.	.	g	10.28	1.307042	0.23821	.	.	ENSG00000105889	ENST00000406890;ENST00000404369;ENST00000424363;ENST00000439708	T;T;T;T	0.14766	2.48;2.77;2.85;2.64	1.6	-3.19	0.05171	.	.	.	.	.	T	0.12732	0.0309	M	0.73962	2.25	0.19300	N	0.99997	P;B	0.44429	0.835;0.189	B;B	0.35278	0.199;0.036	T	0.07501	-1.0769	9	0.72032	D	0.01	-0.944	6.1126	0.20110	0.6561:0.0:0.3439:0.0	.	6;6	B5MCI2;Q6NZ63	.;STEAL_HUMAN	E	6	ENSP00000385239:D6E;ENSP00000384370:D6E;ENSP00000416608:D6E;ENSP00000408954:D6E	ENSP00000384370:D6E	D	-	3	2	STEAP1B	22500982	0.665000	0.27466	0.716000	0.30569	0.171000	0.22731	-0.262000	0.08682	-0.852000	0.04141	-1.490000	0.00973	GAC		0.259	STEAP1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326617.2			
MRPL15	29088	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	55049858	55049858	+	Silent	SNP	C	C	G			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr8:55049858C>G	ENST00000260102.4	+	3	368	c.294C>G	c.(292-294)ctC>ctG	p.L98L		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	98					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.L98L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CTTTGAGTCTCAATAGACTGC	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											138.0	131.0	134.0					8																	55049858		2203	4300	6503	SO:0001819	synonymous_variant	29088			AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.294C>G	8.37:g.55049858C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q96Q54|Q9H0Y1	Silent	SNP	ENST00000260102.4	37	CCDS6158.1																																																																																				0.418	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1		NM_014175	
MS4A12	54860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60264961	60264961	+	Missense_Mutation	SNP	C	C	T	rs148561730		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr11:60264961C>T	ENST00000016913.4	+	2	227	c.170C>T	c.(169-171)cCg>cTg	p.P57L	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.P57L	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	57						integral component of membrane (GO:0016021)		p.P57L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATCACATCTCCGGGAATCTTT	0.458																																																	1	Substitution - Missense(1)	kidney(1)						C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	75.0	72.0	73.0		170,170	3.0	0.0	11	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	MS4A12	NM_001164470.1,NM_017716.2	98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	57/222,57/268	60264961	1,13005	2203	4300	6503	SO:0001583	missense	54860			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.170C>T	11.37:g.60264961C>T	ENSP00000016913:p.Pro57Leu	Somatic		WXS	Illumina HiSeq	Phase_I	F5GX98|Q8N6L4	Missense_Mutation	SNP	ENST00000016913.4	37	CCDS7988.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807914	0.50421	0.0	1.16E-4	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913;ENST00000530007	T;T;T;T	0.68331	1.43;0.53;2.79;-0.32	4.95	3.01	0.34805	.	10.686100	0.00166	N	0.000001	T	0.55433	0.1920	L	0.29908	0.895	0.09310	N	1	P;P	0.50710	0.938;0.865	B;B	0.39027	0.288;0.152	T	0.50303	-0.8844	10	0.59425	D	0.04	.	6.0934	0.20007	0.1859:0.7161:0.0:0.098	.	57;57	E9PNI3;Q9NXJ0	.;M4A12_HUMAN	L	57	ENSP00000440424:P57L;ENSP00000431959:P57L;ENSP00000016913:P57L;ENSP00000434783:P57L	ENSP00000016913:P57L	P	+	2	0	MS4A12	60021537	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	1.797000	0.38804	0.536000	0.28733	0.462000	0.41574	CCG		0.458	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383627.1			
MUC13	56667	hgsc.bcm.edu;ucsc.edu	37	3	124646754	124646754	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:124646754T>A	ENST00000311075.3	-	2	174	c.136A>T	c.(136-138)Act>Tct	p.T46S	MUC13_ENST00000497378.1_5'UTR	NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	46	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TTAGTTTCAGTGGTATCAGCT	0.473																																																	0													203.0	188.0	193.0					3																	124646754		2203	4300	6503	SO:0001583	missense	56667			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.136A>T	3.37:g.124646754T>A	ENSP00000312235:p.Thr46Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UWD9|Q9NXT5	Missense_Mutation	SNP	ENST00000311075.3	37		.	.	.	.	.	.	.	.	.	.	T	5.410	0.260845	0.10239	.	.	ENSG00000173702	ENST00000311075	T	0.15139	2.45	2.47	-4.94	0.03057	.	1.268860	0.05865	N	0.623680	T	0.07279	0.0184	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.36065	-0.9763	10	0.08381	T	0.77	-2.878	1.5495	0.02571	0.2266:0.1254:0.4306:0.2174	.	46	Q9H3R2	MUC13_HUMAN	S	46	ENSP00000312235:T46S	ENSP00000312235:T46S	T	-	1	0	MUC13	126129444	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.946000	0.00680	-2.032000	0.00926	-0.648000	0.03929	ACT		0.473	MUC13-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000355714.1		NM_033049	
MYH3	4621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10551954	10551954	+	Missense_Mutation	SNP	C	C	T	rs558967135		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr17:10551954C>T	ENST00000583535.1	-	8	742	c.655G>A	c.(655-657)Gat>Aat	p.D219N	MYH3_ENST00000226209.7_Missense_Mutation_p.D219N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	219	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.D219N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ATGATTTGATCTTCCAGAGTC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											105.0	104.0	104.0					17																	10551954		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.655G>A	17.37:g.10551954C>T	ENSP00000464317:p.Asp219Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647391	0.87958	.	.	ENSG00000109063	ENST00000226209	T	0.72167	-0.63	4.64	4.64	0.57946	Myosin head, motor domain (2);	.	.	.	.	D	0.85470	0.5704	M	0.84326	2.69	0.49483	D	0.99979	D	0.89917	1.0	D	0.97110	1.0	D	0.87856	0.2661	9	0.87932	D	0	.	18.0353	0.89301	0.0:1.0:0.0:0.0	.	219	P11055	MYH3_HUMAN	N	219	ENSP00000226209:D219N	ENSP00000226209:D219N	D	-	1	0	MYH3	10492679	1.000000	0.71417	0.999000	0.59377	0.579000	0.36224	7.651000	0.83577	2.563000	0.86464	0.462000	0.41574	GAT		0.468	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470	
NDUFS1	4719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	207008817	207008817	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr2:207008817C>A	ENST00000233190.6	-	10	1178	c.912G>T	c.(910-912)gaG>gaT	p.E304D	NDUFS1_ENST00000455934.2_Missense_Mutation_p.E318D|NDUFS1_ENST00000432169.1_Missense_Mutation_p.E193D|NDUFS1_ENST00000449699.1_Missense_Mutation_p.E304D|NDUFS1_ENST00000423725.1_Missense_Mutation_p.E247D|NDUFS1_ENST00000457011.1_Missense_Mutation_p.E188D|NDUFS1_ENST00000440274.1_Missense_Mutation_p.E268D	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	304					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.E304D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACCATTGGCTCGGTAAGTC	0.368																																																	1	Substitution - Missense(1)	kidney(1)											107.0	104.0	105.0					2																	207008817		2203	4300	6503	SO:0001583	missense	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.912G>T	2.37:g.207008817C>A	ENSP00000233190:p.Glu304Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668404	0.29604	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	5.87	3.11	0.35812	Molybdopterin oxidoreductase (1);	0.152181	0.64402	D	0.000013	T	0.73016	0.3533	N	0.08118	0	0.41483	D	0.988176	B;B;B;B	0.17465	0.001;0.022;0.0;0.0	B;B;B;B	0.25759	0.005;0.063;0.003;0.003	T	0.61476	-0.7055	10	0.31617	T	0.26	-5.7882	8.8319	0.35089	0.0:0.7129:0.0:0.2871	.	193;268;318;304	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	D	304;247;188;268;318;304;193	ENSP00000233190:E304D;ENSP00000397760:E247D;ENSP00000400976:E188D;ENSP00000409766:E268D;ENSP00000392709:E318D;ENSP00000399912:E304D;ENSP00000409689:E193D	ENSP00000233190:E304D	E	-	3	2	NDUFS1	206717062	1.000000	0.71417	0.551000	0.28230	0.734000	0.41952	0.971000	0.29396	0.392000	0.25172	0.591000	0.81541	GAG		0.368	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4		NM_005006	
NLRP7	199713	hgsc.bcm.edu;ucsc.edu	37	19	55451609	55451609	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr19:55451609delA	ENST00000590030.1	-	3	618	c.578delT	c.(577-579)ctgfs	p.L193fs	NLRP7_ENST00000448121.2_Frame_Shift_Del_p.L193fs|NLRP7_ENST00000340844.2_Frame_Shift_Del_p.L193fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.L193fs|NLRP7_ENST00000588756.1_Frame_Shift_Del_p.L193fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.L221fs|NLRP7_ENST00000592784.1_Frame_Shift_Del_p.L193fs			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	193	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTCCAGTCCAGCATACACTT	0.587																																																	0													124.0	120.0	122.0					19																	55451609		2203	4300	6503	SO:0001589	frameshift_variant	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.578delT	19.37:g.55451609delA	ENSP00000465520:p.Leu193fs	Somatic		WXS	Illumina HiSeq	Phase_I	E9PE16|Q32MH8|Q7RTR1	Frame_Shift_Del	DEL	ENST00000590030.1	37	CCDS33109.1																																																																																				0.587	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52682418	52682418	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:52682418A>C	ENST00000296302.7	-	7	756	c.755T>G	c.(754-756)aTa>aGa	p.I252R	PBRM1_ENST00000356770.4_Missense_Mutation_p.I252R|PBRM1_ENST00000409114.3_Missense_Mutation_p.I252R|PBRM1_ENST00000394830.3_Missense_Mutation_p.I252R|PBRM1_ENST00000409767.1_Missense_Mutation_p.I252R|PBRM1_ENST00000410007.1_Missense_Mutation_p.I252R|PBRM1_ENST00000409057.1_Missense_Mutation_p.I252R|PBRM1_ENST00000337303.4_Missense_Mutation_p.I252R			Q86U86	PB1_HUMAN	polybromo 1	252	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.D251fs*31(3)|p.I252R(3)|p.M248fs*9(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGGAGATCTATATCTTTGGC	0.338			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	8	Deletion - Frameshift(5)|Substitution - Missense(3)	kidney(8)											191.0	183.0	185.0					3																	52682418		2203	4300	6503	SO:0001583	missense	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.755T>G	3.37:g.52682418A>C	ENSP00000296302:p.Ile252Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	24.5	4.541837	0.85917	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0;2.0	5.68	5.68	0.88126	Bromodomain (5);Bromodomain, conserved site (1);	0.048347	0.85682	D	0.000000	T	0.52996	0.1769	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.996;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D	0.85130	0.994;0.99;0.988;0.994;0.975;0.993;0.997;0.994;0.986	T	0.61491	-0.7052	10	0.87932	D	0	-18.6823	15.6013	0.76628	1.0:0.0:0.0:0.0	.	252;252;252;252;252;252;252;252;252	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	R	252;252;252;252;252;252;252;252;252;196	ENSP00000349213:I252R;ENSP00000378307:I252R;ENSP00000296302:I252R;ENSP00000338302:I252R;ENSP00000386593:I252R;ENSP00000386529:I252R;ENSP00000386643:I252R;ENSP00000386601:I252R;ENSP00000387775:I252R;ENSP00000397662:I196R	ENSP00000296302:I252R	I	-	2	0	PBRM1	52657458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.531000	0.90610	2.164000	0.68074	0.528000	0.53228	ATA		0.338	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDE4D	5144	broad.mit.edu;ucsc.edu	37	5	59284433	59284433	+	Missense_Mutation	SNP	C	C	T	rs543718776		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:59284433C>T	ENST00000502484.2	-	3	377	c.154G>A	c.(154-156)Gcc>Acc	p.A52T	PDE4D_ENST00000546160.1_Missense_Mutation_p.A52T	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.A52T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TGTCTGAAGGCGAGAGGGGGA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		16875	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											159.0	147.0	150.0					5																	59284433		1568	3582	5150	SO:0001583	missense	5144				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000502484.2:c.154G>A	5.37:g.59284433C>T	ENSP00000423094:p.Ala52Thr	Somatic		WXS	Illumina GAIIx	Phase_I	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000502484.2	37	CCDS54859.1	.	.	.	.	.	.	.	.	.	.	C	36	5.722546	0.96847	.	.	ENSG00000113448	ENST00000502484;ENST00000546160;ENST00000505507;ENST00000514552	T;T	0.68331	-0.32;-0.32	5.71	5.71	0.89125	.	.	.	.	.	T	0.79879	0.4522	.	.	.	0.43857	D	0.996457	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.982	T	0.73547	-0.3948	8	0.19590	T	0.45	.	19.8467	0.96710	0.0:1.0:0.0:0.0	.	52;52	D6RIG1;Q08499-11	.;.	T	52	ENSP00000423094:A52T;ENSP00000442734:A52T	ENSP00000423094:A52T	A	-	1	0	PDE4D	59320190	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	6.632000	0.74281	2.696000	0.92011	0.585000	0.79938	GCC		0.483	PDE4D-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368094.3			
PHC2	1912	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33796958	33796958	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:33796958C>T	ENST00000257118.5	-	11	2047	c.1994G>A	c.(1993-1995)tGt>tAt	p.C665Y	MIR3605_ENST00000583214.1_RNA|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.C271Y|PHC2_ENST00000431992.1_Missense_Mutation_p.C636Y|PHC2_ENST00000373416.1_Missense_Mutation_p.C130Y|PHC2_ENST00000419414.2_Missense_Mutation_p.C666Y|PHC2_ENST00000373418.3_Missense_Mutation_p.C130Y	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	665					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.C665Y(1)		autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTCTTTGCACAAGCCATGGA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											99.0	106.0	104.0					1																	33796958		2203	4300	6503	SO:0001583	missense	1912			AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1994G>A	1.37:g.33796958C>T	ENSP00000257118:p.Cys665Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Missense_Mutation	SNP	ENST00000257118.5	37	CCDS378.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952531	0.92660	.	.	ENSG00000134686	ENST00000431992;ENST00000257118;ENST00000373422;ENST00000373418;ENST00000307890;ENST00000419414;ENST00000373416	T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05	5.85	5.85	0.93711	Zinc finger, FCS-type (1);	0.045423	0.85682	D	0.000000	D	0.82472	0.5044	M	0.87097	2.86	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.87578	0.996;0.996;0.996;0.998	D	0.84833	0.0803	10	0.87932	D	0	-7.9761	17.6714	0.88218	0.0:1.0:0.0:0.0	.	666;637;665;80	A8KA40;B7ZLY0;Q8IXK0;Q8IXK0-3	.;.;PHC2_HUMAN;.	Y	636;665;271;130;243;666;130	ENSP00000389436:C636Y;ENSP00000257118:C665Y;ENSP00000362521:C271Y;ENSP00000362517:C130Y;ENSP00000391440:C666Y;ENSP00000362515:C130Y	ENSP00000257118:C665Y	C	-	2	0	PHC2	33569545	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.343000	0.79319	2.771000	0.95319	0.561000	0.74099	TGT		0.552	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1		NM_198040	
PHF20	51230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34515757	34515757	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr20:34515757A>T	ENST00000374012.3	+	14	2189	c.2060A>T	c.(2059-2061)aAt>aTt	p.N687I	RNU6-937P_ENST00000384325.1_RNA|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	687					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.N687I(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CTGGAAGAAAATGTGCCCGAG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											156.0	151.0	153.0					20																	34515757		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.2060A>T	20.37:g.34515757A>T	ENSP00000363124:p.Asn687Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.309024	0.81247	.	.	ENSG00000025293	ENST00000374012	D	0.84800	-1.9	5.91	4.82	0.62117	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.039460	0.85682	D	0.000000	D	0.90848	0.7125	M	0.76433	2.335	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.91473	0.5198	10	0.72032	D	0.01	.	11.4297	0.50032	0.9304:0.0:0.0696:0.0	.	687	Q9BVI0	PHF20_HUMAN	I	687	ENSP00000363124:N687I	ENSP00000363124:N687I	N	+	2	0	PHF20	33979171	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.695000	0.61767	2.254000	0.74563	0.533000	0.62120	AAT		0.443	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436	
PHF8	23133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54019191	54019191	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chrX:54019191C>A	ENST00000357988.5	-	14	2174	c.1816G>T	c.(1816-1818)Gcc>Tcc	p.A606S	PHF8_ENST00000338154.6_Missense_Mutation_p.A570S|PHF8_ENST00000322659.8_Missense_Mutation_p.A570S|PHF8_ENST00000338946.6_Missense_Mutation_p.A469S	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	606					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.A570S(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						ATCAATAGGGCCAATGGGCTC	0.507																																																	2	Substitution - Missense(2)	kidney(2)											152.0	94.0	114.0					X																	54019191		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1816G>T	X.37:g.54019191C>A	ENSP00000350676:p.Ala606Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	CCDS55420.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	5.063|5.063|5.063	0.197305|0.197305|0.197305	0.09599|0.09599|0.09599	.|.|.	.|.|.	ENSG00000172943|ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000375189;ENST00000322659|ENST00000443302|ENST00000396282	T;T;T;T|.|.	0.21932|.|.	2.58;2.32;2.3;1.98|.|.	5.32|5.32|5.32	3.09|3.09|3.09	0.35607|0.35607|0.35607	.|.|.	0.315960|.|.	0.33057|.|.	N|.|.	0.005332|.|.	T|T|T	0.20981|0.20981|0.20981	0.0505|0.0505|0.0505	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.09310|0.09310|0.09310	N|N|N	0.999999|0.999999|0.999999	B;B;B;B;B|.|.	0.11235|.|.	0.004;0.0;0.001;0.002;0.001|.|.	B;B;B;B;B|.|.	0.06405|.|.	0.002;0.001;0.001;0.002;0.001|.|.	T|T|T	0.16837|0.16837|0.16837	-1.0389|-1.0389|-1.0389	10|5|5	0.12103|.|.	T|.|.	0.63|.|.	-2.374|-2.374|-2.374	3.2595|3.2595|3.2595	0.06844|0.06844|0.06844	0.2502:0.5825:0.0:0.1674|0.2502:0.5825:0.0:0.1674|0.2502:0.5825:0.0:0.1674	.|.|.	92;570;469;505;606|.|.	B3KMV4;Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.|.	.;.;.;.;PHF8_HUMAN|.|.	S|V|C	606;570;469;499;46;570|333|473	ENSP00000350676:A606S;ENSP00000338868:A570S;ENSP00000340051:A469S;ENSP00000319473:A570S|.|.	ENSP00000319473:A570S|.|.	A|G|W	-|-|-	1|2|3	0|0|0	PHF8|PHF8|PHF8	54035916|54035916|54035916	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.992000|0.992000|0.992000	0.48379|0.48379|0.48379	0.950000|0.950000|0.950000	0.60333|0.60333|0.60333	0.711000|0.711000|0.711000	0.25764|0.25764|0.25764	1.082000|1.082000|1.082000	0.41137|0.41137|0.41137	0.594000|0.594000|0.594000	0.82650|0.82650|0.82650	GCC|GGC|TGG		0.507	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2		NM_015107	
PLXNA2	5362	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	208207921	208207921	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:208207921A>G	ENST00000367033.3	-	27	5538	c.4781T>C	c.(4780-4782)gTg>gCg	p.V1594A		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1594					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.V1594A(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGAGCCACCACCGACCTGTC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											104.0	92.0	96.0					1																	208207921		2203	4300	6503	SO:0001583	missense	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4781T>C	1.37:g.208207921A>G	ENSP00000356000:p.Val1594Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.288152	0.59976	.	.	ENSG00000076356	ENST00000367033	T	0.11495	2.77	5.17	5.17	0.71159	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.059067	0.64402	D	0.000002	T	0.17916	0.0430	M	0.76574	2.34	0.80722	D	1	B	0.21821	0.061	B	0.27076	0.076	T	0.01720	-1.1288	10	0.40728	T	0.16	.	15.0406	0.71788	1.0:0.0:0.0:0.0	.	1594	O75051	PLXA2_HUMAN	A	1594	ENSP00000356000:V1594A	ENSP00000356000:V1594A	V	-	2	0	PLXNA2	206274544	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	6.793000	0.75130	1.955000	0.56771	0.528000	0.53228	GTG		0.522	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6		NM_025179	
PSMC5	5705	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61907491	61907491	+	Splice_Site	SNP	A	A	G			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr17:61907491A>G	ENST00000310144.6	+	5	572		c.e5-1		PSMC5_ENST00000581882.1_Splice_Site|PSMC5_ENST00000580864.1_Splice_Site|PSMC5_ENST00000375812.4_Splice_Site|FTSJ3_ENST00000580295.1_5'Flank|FTSJ3_ENST00000427159.2_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|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)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)	p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TTGTTTCTTTAGGTACATCCT	0.458																																																	1	Unknown(1)	kidney(1)											270.0	214.0	233.0					17																	61907491		2203	4300	6503	SO:0001630	splice_region_variant	5705			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.265-1A>G	17.37:g.61907491A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Splice_Site	SNP	ENST00000310144.6	37	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.284269	0.23392	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2819	0.60219	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSMC5	59261223	1.000000	0.71417	0.947000	0.38551	0.145000	0.21501	8.409000	0.90223	2.233000	0.73108	0.533000	0.62120	.		0.458	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1		NM_002805	Intron
PTENP1	11191	broad.mit.edu	37	9	33675588	33675588	+	RNA	SNP	C	C	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr9:33675588C>T	ENST00000532280.1	-	0	1909					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		CTGGATTTGACGGCTCCTCTA	0.388																																																	0																																												11191			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33675588C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000532280.1	37																																																																																					0.388	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1		NR_023917	
RIMS1	22999	hgsc.bcm.edu	37	6	73100387	73100388	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr6:73100387_73100388insG	ENST00000521978.1	+	30	4454_4455	c.4454_4455insG	c.(4453-4458)ccgagcfs	p.S1486fs	RIMS1_ENST00000425662.2_Frame_Shift_Ins_p.S554fs|RIMS1_ENST00000264839.7_Frame_Shift_Ins_p.S1335fs|RIMS1_ENST00000517827.1_Frame_Shift_Ins_p.S620fs|RIMS1_ENST00000518273.1_Frame_Shift_Ins_p.S1165fs|RIMS1_ENST00000348717.5_Frame_Shift_Ins_p.S1269fs|RIMS1_ENST00000401910.3_Frame_Shift_Ins_p.S806fs|RIMS1_ENST00000523963.1_Frame_Shift_Ins_p.S611fs|RIMS1_ENST00000538414.1_Frame_Shift_Ins_p.S292fs|RIMS1_ENST00000520567.1_Frame_Shift_Ins_p.S1136fs|RIMS1_ENST00000414192.2_Frame_Shift_Ins_p.S13fs|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000491071.2_Frame_Shift_Ins_p.S1309fs|RIMS1_ENST00000517960.1_Frame_Shift_Ins_p.S1269fs|RIMS1_ENST00000522291.1_Frame_Shift_Ins_p.S1085fs	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1486					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GTAAGGCAGCCGAGCCGAGAGT	0.5																																																	0																																										SO:0001589	frameshift_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.4455dupG	6.37:g.73100388_73100388dupG	ENSP00000428417:p.Ser1486fs	Somatic		WXS	Illumina HiSeq	Phase_I	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Frame_Shift_Ins	INS	ENST00000521978.1	37	CCDS47449.1																																																																																				0.500	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			
PTBP3	9991	broad.mit.edu;hgsc.bcm.edu	37	9	115038125	115038125	+	Splice_Site	SNP	T	T	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr9:115038125T>A	ENST00000374255.2	-	4	434	c.287A>T	c.(286-288)cAg>cTg	p.Q96L	PTBP3_ENST00000334318.6_Splice_Site_p.Q99L|PTBP3_ENST00000458258.1_Splice_Site_p.Q102L|PTBP3_ENST00000374257.1_Splice_Site_p.Q68L|PTBP3_ENST00000487997.1_Intron|PTBP3_ENST00000343327.2_Intron			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	96	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q96L(1)									ATTACATACCTGGCTTTTTCC	0.299																																																	1	Substitution - Missense(1)	kidney(1)											71.0	71.0	71.0					9																	115038125		2203	4300	6503	SO:0001630	splice_region_variant	0			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.288+1A>T	9.37:g.115038125T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Missense_Mutation	SNP	ENST00000374255.2	37	CCDS6784.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678179	0.88542	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000210227	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.6	5.6	0.85130	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.059792	0.64402	D	0.000002	D	0.90256	0.6953	H	0.94925	3.6	0.80722	D	1	D;D;B;D;D	0.55172	0.97;0.963;0.347;0.97;0.963	P;P;B;P;P	0.60068	0.861;0.868;0.069;0.861;0.845	D	0.92942	0.6373	10	0.87932	D	0	-2.9409	15.783	0.78275	0.0:0.0:0.0:1.0	.	68;68;99;96;102	B1ALY5;O95758-2;O95758-5;O95758;O95758-4	.;.;.;ROD1_HUMAN;.	L	68;99;102;96;102	ENSP00000363375:Q68L;ENSP00000334499:Q99L;ENSP00000414921:Q102L;ENSP00000363373:Q96L;ENSP00000210227:Q102L	ENSP00000210227:Q102L	Q	-	2	0	ROD1	114077946	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.673000	0.83973	2.125000	0.65367	0.482000	0.46254	CAG		0.299	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1			Missense_Mutation
SETBP1	26040	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	42530906	42530907	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr18:42530906_42530907GC>AA	ENST00000282030.5	+	4	1897_1898	c.1601_1602GC>AA	c.(1600-1602)tGC>tAA	p.C534*		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	534						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C480*(1)|p.C534*(1)|p.C480Y(1)|p.C534Y(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGGTGGACTTGCAGCAAACCAA	0.515									Schinzel-Giedion syndrome																																								4	Substitution - Missense(2)|Substitution - Nonsense(2)	kidney(4)																																								SO:0001587	stop_gained	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	Exception_encountered	18.37:g.42530906_42530907delinsAA	ENSP00000282030:p.Cys534*	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000282030.5	37	CCDS11923.2																																																																																				0.515	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4		NM_001130110	
SLC4A3	6508	broad.mit.edu;hgsc.bcm.edu	37	2	220497001	220497001	+	Silent	SNP	C	C	T	rs374831285		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr2:220497001C>T	ENST00000358055.3	+	8	1490	c.978C>T	c.(976-978)aaC>aaT	p.N326N	SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Silent_p.N326N|SLC4A3_ENST00000373760.2_Silent_p.N326N|SLC4A3_ENST00000273063.6_Silent_p.N353N|SLC4A3_ENST00000373762.3_Silent_p.N353N			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	326					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.N353N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGAGCTGAACGAGCTGATGC	0.672																																																	1	Substitution - coding silent(1)	kidney(1)						T	,	1,4405	2.1+/-5.4	0,1,2202	37.0	42.0	41.0		978,1059	-7.7	0.5	2		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC4A3	NM_005070.3,NM_201574.2	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	326/1233,353/1260	220497001	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6508				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.978C>T	2.37:g.220497001C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	CCDS2445.1																																																																																				0.672	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1		NM_005070	
SLC6A18	348932	broad.mit.edu;hgsc.bcm.edu	37	5	1232438	1232438	+	Missense_Mutation	SNP	G	G	T	rs202179592		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:1232438G>T	ENST00000324642.3	+	2	388	c.265G>T	c.(265-267)Gtg>Ttg	p.V89L	SLC6A18_ENST00000296821.4_Missense_Mutation_p.V89L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	89					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)	p.V89L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CAGCGTCGGCGTGTGGACGGC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											37.0	36.0	36.0					5																	1232438		2202	4300	6502	SO:0001583	missense	348932			AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.265G>T	5.37:g.1232438G>T	ENSP00000323549:p.Val89Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000324642.3	37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.317725	0.81469	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	T;T	0.74737	-0.87;-0.87	5.45	5.45	0.79879	.	0.155507	0.42172	D	0.000747	T	0.82226	0.4991	L	0.56280	1.765	0.51012	D	0.999901	D	0.64830	0.994	P	0.62435	0.902	T	0.82808	-0.0274	10	0.54805	T	0.06	.	17.0443	0.86498	0.0:0.0:1.0:0.0	.	89	Q96N87	S6A18_HUMAN	L	89	ENSP00000323549:V89L;ENSP00000296821:V89L	ENSP00000296821:V89L	V	+	1	0	SLC6A18	1285438	1.000000	0.71417	0.952000	0.39060	0.061000	0.15899	4.807000	0.62576	2.560000	0.86352	0.491000	0.48974	GTG		0.657	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3		NM_182632	
SLC7A11	23657	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	139144404	139144404	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr4:139144404G>A	ENST00000280612.5	-	4	874	c.595C>T	c.(595-597)Ctc>Ttc	p.L199F		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	199					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)	p.L199F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ATTGCTGTGAGCTTGCAAAAG	0.393																																																	1	Substitution - Missense(1)	kidney(1)											98.0	103.0	101.0					4																	139144404		2203	4300	6503	SO:0001583	missense	23657			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.595C>T	4.37:g.139144404G>A	ENSP00000280612:p.Leu199Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2U4	Missense_Mutation	SNP	ENST00000280612.5	37	CCDS3742.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682787	0.88542	.	.	ENSG00000151012	ENST00000280612	D	0.90261	-2.64	5.48	5.48	0.80851	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	L	0.48218	1.51	0.80722	D	1	P	0.51933	0.949	P	0.56823	0.807	D	0.93351	0.6718	10	0.87932	D	0	.	19.3356	0.94316	0.0:0.0:1.0:0.0	.	199	Q9UPY5	XCT_HUMAN	F	199	ENSP00000280612:L199F	ENSP00000280612:L199F	L	-	1	0	SLC7A11	139363854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.894000	0.75655	2.572000	0.86782	0.591000	0.81541	CTC		0.393	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257251.2			
SMG6	23293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	2076117	2076117	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr17:2076117G>T	ENST00000263073.6	-	13	3242	c.3192C>A	c.(3190-3192)ttC>ttA	p.F1064L	SMG6_ENST00000544865.1_Missense_Mutation_p.F1033L|SMG6_ENST00000354901.4_Missense_Mutation_p.F156L|SMG6_ENST00000536871.2_Missense_Mutation_p.F156L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1064					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.F1064L(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTATGTTACAGAAATCAGCCA	0.458																																					Melanoma(59;28 1088 11621 25887 46638 50814)												1	Substitution - Missense(1)	kidney(1)											107.0	87.0	94.0					17																	2076117		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3192C>A	17.37:g.2076117G>T	ENSP00000263073:p.Phe1064Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	2.135	-0.398165	0.04865	.	.	ENSG00000070366	ENST00000263073;ENST00000544865;ENST00000536871	T;T;T	0.15487	2.42;2.42;2.42	5.91	4.95	0.65309	.	0.204903	0.43416	D	0.000574	T	0.06645	0.0170	N	0.01529	-0.815	0.34161	D	0.668709	B	0.28667	0.219	B	0.30251	0.113	T	0.29852	-0.9998	10	0.14252	T	0.57	-7.153	13.1857	0.59680	0.0731:0.0:0.9269:0.0	.	1064	Q86US8	EST1A_HUMAN	L	1064;1033;156	ENSP00000263073:F1064L;ENSP00000443920:F1033L;ENSP00000440283:F156L	ENSP00000263073:F1064L	F	-	3	2	SMG6	2022867	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.913000	0.39956	1.515000	0.48885	0.549000	0.68633	TTC		0.458	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			
SOS1	6654	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	39250004	39250004	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr2:39250004T>C	ENST00000426016.1	-	11	1651	c.1565A>G	c.(1564-1566)aAt>aGt	p.N522S	SOS1_ENST00000395038.2_Missense_Mutation_p.N522S|SOS1_ENST00000402219.2_Missense_Mutation_p.N522S|SOS1_ENST00000472480.1_5'Flank			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	522	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N522S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TATAACACTATTTTCATCTTT	0.323									Noonan syndrome																																								1	Substitution - Missense(1)	kidney(1)											64.0	64.0	64.0					2																	39250004		2203	4299	6502	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.1565A>G	2.37:g.39250004T>C	ENSP00000387784:p.Asn522Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	T	2.947	-0.217619	0.06101	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	D;D;D	0.87887	-2.31;-2.31;-2.31	5.6	4.43	0.53597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	N	0.17564	0.495	0.80722	D	1	B;B	0.11235	0.004;0.002	B;B	0.11329	0.006;0.006	T	0.66524	-0.5902	10	0.06494	T	0.89	.	11.6882	0.51499	0.0:0.0705:0.0:0.9295	.	254;522	F5GX06;Q07889	.;SOS1_HUMAN	S	522;522;254;522;522	ENSP00000387784:N522S;ENSP00000384675:N522S;ENSP00000378479:N522S	ENSP00000263879:N522S	N	-	2	0	SOS1	39103508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.050000	0.49877	2.129000	0.65627	0.455000	0.32223	AAT		0.323	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3		NM_005633	
SSBP2	23635	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	80911317	80911317	+	Missense_Mutation	SNP	C	C	A	rs11555880		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr5:80911317C>A	ENST00000320672.4	-	4	467	c.257G>T	c.(256-258)aGt>aTt	p.S86I	SSBP2_ENST00000505980.1_Missense_Mutation_p.S86I|SSBP2_ENST00000514493.1_Missense_Mutation_p.S86I|SSBP2_ENST00000515395.1_Missense_Mutation_p.S86I|SSBP2_ENST00000509053.1_Missense_Mutation_p.S86I	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	86					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)	p.S86I(1)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TTTTGCTTCACTTGAGTGTTC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											74.0	69.0	71.0					5																	80911317		2203	4300	6503	SO:0001583	missense	23635			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.257G>T	5.37:g.80911317C>A	ENSP00000322977:p.Ser86Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	ENST00000320672.4	37	CCDS4056.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036533	0.93630	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000505980;ENST00000515395;ENST00000509013	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D	0.63880	0.99;0.96;0.993;0.959;0.99	D;P;D;P;P	0.67725	0.953;0.836;0.953;0.507;0.86	T	0.82080	-0.0634	9	0.87932	D	0	-6.5304	19.0507	0.93043	0.0:1.0:0.0:0.0	rs11555880	86;86;86;86;86	E9PDA8;E9PB74;B7Z1J2;B7Z665;P81877	.;.;.;.;SSBP2_HUMAN	I	86;86;86;39;86;86;82	.	ENSP00000322977:S86I	S	-	2	0	SSBP2	80947073	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.410000	0.80065	2.607000	0.88179	0.484000	0.47621	AGT		0.343	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239249.1		NM_012446	
STRA6	64220	broad.mit.edu	37	15	74472524	74472524	+	Missense_Mutation	SNP	C	C	A	rs201627246		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr15:74472524C>A	ENST00000323940.5	-	19	2146	c.1901G>T	c.(1900-1902)cGc>cTc	p.R634L	STRA6_ENST00000535552.1_Missense_Mutation_p.R671L|RP11-665J16.1_ENST00000561647.1_RNA|STRA6_ENST00000395105.4_Missense_Mutation_p.R634L|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000449139.2_Missense_Mutation_p.R634L|STRA6_ENST00000423167.2_Missense_Mutation_p.R625L|STRA6_ENST00000416286.3_Missense_Mutation_p.R626L|STRA6_ENST00000563965.1_Missense_Mutation_p.R673L|STRA6_ENST00000574278.1_Missense_Mutation_p.R649L	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	634					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)	p.R634L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						AGCCCTGCCGCGGCTGGCCCC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											91.0	105.0	100.0					15																	74472524		2198	4297	6495	SO:0001583	missense	64220			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1901G>T	15.37:g.74472524C>A	ENSP00000326085:p.Arg634Leu	Somatic		WXS	Illumina GAIIx	Phase_I	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	C	6.881	0.531999	0.13127	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	4.5	-3.63	0.04529	.	0.757532	0.12544	N	0.459624	T	0.73869	0.3642	L	0.38838	1.175	0.09310	N	0.999997	B;B;B;B;B;P	0.43701	0.099;0.099;0.056;0.056;0.099;0.815	B;B;B;B;B;B	0.38985	0.035;0.035;0.024;0.024;0.035;0.287	T	0.64837	-0.6313	10	0.22109	T	0.4	-2.8476	11.4284	0.50025	0.0:0.4574:0.0:0.5426	.	671;672;625;634;673;443	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	L	634;634;566;443;673;625;671;524	ENSP00000378537:R634L;ENSP00000326085:R634L;ENSP00000413012:R625L;ENSP00000440238:R671L	ENSP00000326085:R634L	R	-	2	0	STRA6	72259577	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.009000	0.03660	-0.837000	0.04223	0.462000	0.41574	CGC		0.637	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			
SYNE2	23224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64545255	64545255	+	Silent	SNP	G	G	C	rs369117320		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr14:64545255G>C	ENST00000344113.4	+	55	11306	c.11094G>C	c.(11092-11094)ggG>ggC	p.G3698G	SYNE2_ENST00000357395.3_Silent_p.G60G|SYNE2_ENST00000555002.1_Silent_p.G332G|SYNE2_ENST00000358025.3_Silent_p.G3698G|SYNE2_ENST00000394768.2_Silent_p.G60G|SYNE2_ENST00000554584.1_Silent_p.G3731G	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3698					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.G3698G(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTAACAATGGGCTTCATAATG	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	85.0	85.0					14																	64545255		2203	4300	6503	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11094G>C	14.37:g.64545255G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.343	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914	
TCHHL1	126637	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	152060504	152060504	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:152060504C>T	ENST00000368806.1	-	2	180	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	39							calcium ion binding (GO:0005509)	p.G39D(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCCAAACTCGCCCTGGATGAG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											182.0	178.0	179.0					1																	152060504		2203	4300	6503	SO:0001583	missense	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.116G>A	1.37:g.152060504C>T	ENSP00000357796:p.Gly39Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	13.98	2.398574	0.42512	.	.	ENSG00000182898	ENST00000368806	T	0.08720	3.06	6.0	4.13	0.48395	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.617892	0.13467	N	0.385674	T	0.12561	0.0305	M	0.72894	2.215	0.09310	N	1	D	0.65815	0.995	D	0.67231	0.95	T	0.11203	-1.0597	10	0.35671	T	0.21	-2.1256	9.6327	0.39789	0.0:0.8356:0.0:0.1644	.	39	Q5QJ38	TCHL1_HUMAN	D	39	ENSP00000357796:G39D	ENSP00000357796:G39D	G	-	2	0	TCHHL1	150327128	0.001000	0.12720	0.475000	0.27278	0.218000	0.24690	0.584000	0.23864	1.558000	0.49541	-0.136000	0.14681	GGC		0.443	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2		XM_060104	
TMEM185A	84548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	148690436	148690436	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chrX:148690436C>A	ENST00000316916.8	-	3	605	c.301G>T	c.(301-303)Gtc>Ttc	p.V101F	TMEM185A_ENST00000507237.1_Missense_Mutation_p.V101F|TMEM185A_ENST00000536359.1_Missense_Mutation_p.V42F	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	101						dendrite (GO:0030425)|integral component of membrane (GO:0016021)		p.V101F(1)		kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CTGTCACAGACCAGAACTTCA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											177.0	159.0	165.0					X																	148690436		2202	4299	6501	SO:0001583	missense	84548			AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.301G>T	X.37:g.148690436C>A	ENSP00000359449:p.Val101Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	CCDS14689.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.956400|4.956400	0.92726|0.92726	.|.	.|.	ENSG00000155984|ENSG00000155984	ENST00000316916;ENST00000536359;ENST00000507237;ENST00000511776|ENST00000502858	T;T;T;T|.	0.33216|.	1.42;1.42;1.42;1.42|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69187|0.69187	0.3083|0.3083	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	D;P;D|.	0.67145|.	0.996;0.943;0.989|.	D;P;P|.	0.68621|.	0.959;0.59;0.868|.	T|T	0.66681|0.66681	-0.5862|-0.5862	10|5	0.48119|.	T|.	0.1|.	-18.0348|-18.0348	17.2137|17.2137	0.86937|0.86937	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	101;42;101|.	Q8NFB2;F5H5U0;E7EMM1|.	T185A_HUMAN;.;.|.	F|C	101;42;101;42|1	ENSP00000359449:V101F;ENSP00000443119:V42F;ENSP00000427766:V101F;ENSP00000428659:V42F|.	ENSP00000359449:V101F|.	V|W	-|-	1|3	0|0	TMEM185A|TMEM185A	148498232|148498232	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.349000|7.349000	0.79376|0.79376	2.275000|2.275000	0.75901|0.75901	0.513000|0.513000	0.50165|0.50165	GTC|TGG		0.488	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058710.4		NM_032508	
MTATP6P1	106480796	broad.mit.edu	37	1	569445	569445	+	IGR	SNP	G	G	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr1:569445G>A								RP5-857K21.5 (5055 upstream) : OR4F16 (51613 downstream)																							GATTAAAAATGCCCTAGCCCA	0.463																																																	0																																										SO:0001628	intergenic_variant	0																															1.37:g.569445G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.463									
Unknown	0	broad.mit.edu	37	22	20295349	20295349	+	IGR	SNP	A	A	G	rs201554430	byFrequency	TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr22:20295349A>G								RTN4R (36079 upstream) : DGCR6L (6449 downstream)																							GAGCTGGCTCACCGTGAGGGC	0.622													.|||	7	0.00139776	0.0	0.0014	5008	,	,		16358	0.003		0.001	False		,,,				2504	0.002																0																																										SO:0001628	intergenic_variant	0																															22.37:g.20295349A>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.622									
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12070760	12070760	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr10:12070760T>A	ENST00000356352.2	-	2	1602	c.1129A>T	c.(1129-1131)Act>Tct	p.T377S	UPF2_ENST00000397053.2_Missense_Mutation_p.T377S|UPF2_ENST00000357604.5_Missense_Mutation_p.T377S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	377	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.T377S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TGTCTCTCAGTATTCTGGAGC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											69.0	71.0	71.0					10																	12070760		2201	4299	6500	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1129A>T	10.37:g.12070760T>A	ENSP00000348708:p.Thr377Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	T	12.08	1.830522	0.32329	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.41758	0.99;0.99;0.99	5.51	5.51	0.81932	MIF4G-like, type 3 (1);Armadillo-type fold (1);	0.107189	0.64402	D	0.000007	T	0.25269	0.0614	N	0.08118	0	0.35235	D	0.777231	B;B	0.23591	0.035;0.088	B;B	0.24006	0.03;0.05	T	0.27020	-1.0086	10	0.19147	T	0.46	.	15.9255	0.79611	0.0:0.0:0.0:1.0	.	347;377	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	S	377;377;347;377;347	ENSP00000348708:T377S;ENSP00000350221:T377S;ENSP00000380244:T377S	ENSP00000313617:T347S	T	-	1	0	UPF2	12110766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.012000	0.64017	2.221000	0.72209	0.528000	0.53228	ACT		0.373	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191563	10191563	+	Nonsense_Mutation	SNP	G	G	T	rs367545984		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr3:10191563G>T	ENST00000256474.2	+	3	1396	c.556G>T	c.(556-558)Gaa>Taa	p.E186*	VHL_ENST00000345392.2_Nonsense_Mutation_p.E145*|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	186			E -> K (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.|Missing (in VHLD). {ECO:0000269|PubMed:8730290}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E186*(3)|p.Y185_D187>*(1)|p.Y185fs*14(1)|p.E186fs*14(1)|p.Y185fs*11(1)|p.E186K(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTCGCTCTACGAAGATCTGGA	0.512		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	8	Substitution - Nonsense(3)|Deletion - Frameshift(3)|Complex - deletion inframe(1)|Substitution - Missense(1)	kidney(7)|large_intestine(1)	GRCh37	CM951297|CM951298	VHL	M							78.0	71.0	73.0					3																	10191563		2203	4300	6503	SO:0001587	stop_gained	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.556G>T	3.37:g.10191563G>T	ENSP00000256474:p.Glu186*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826310	0.71143	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-10.1279	16.1249	0.81386	0.0:0.0:1.0:0.0	.	.	.	.	X	186;145;104	.	ENSP00000256474:E186X	E	+	1	0	VHL	10166563	1.000000	0.71417	0.978000	0.43139	0.578000	0.36192	7.062000	0.76706	2.735000	0.93741	0.655000	0.94253	GAA		0.512	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																																	0																																												375260					2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000538033.2	37																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1		NM_198943	
WFS1	7466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	6303445	6303445	+	Silent	SNP	G	G	A	rs139040290		TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr4:6303445G>A	ENST00000226760.1	+	8	2093	c.1923G>A	c.(1921-1923)acG>acA	p.T641T	WFS1_ENST00000503569.1_Silent_p.T641T	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	641					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)	p.T641T(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TGTGGCTCACGGCCATCGTGC	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20552	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						G	,	0,4406		0,0,2203	291.0	266.0	275.0		1923,1923	1.2	1.0	4	dbSNP_134	275	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	WFS1	NM_001145853.1,NM_006005.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	641/891,641/891	6303445	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7466			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1923G>A	4.37:g.6303445G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R797|D3DVT1|Q8N6I3|Q9UNW6	Silent	SNP	ENST00000226760.1	37	CCDS3386.1																																																																																				0.597	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			
ZNF34	80778	hgsc.bcm.edu	37	8	145999619	145999619	+	Missense_Mutation	SNP	T	T	C	rs3830702|rs79597357	byFrequency	TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr8:145999619T>C	ENST00000343459.4	-	6	780	c.715A>G	c.(715-717)Aaa>Gaa	p.K239E	ZNF34_ENST00000429371.2_Missense_Mutation_p.K218E			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TGATCTTCTTTAACAACTAAG	0.388																																																	0													56.0	52.0	53.0					8																	145999619		1924	4131	6055	SO:0001583	missense	80778			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.715A>G	8.37:g.145999619T>C	ENSP00000341528:p.Lys239Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DWN1|Q9BSZ0	Missense_Mutation	SNP	ENST00000343459.4	37	CCDS47945.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	6	0.01048951048951049	1	0.0013192612137203166	T	16.22	3.061908	0.55432	.	.	ENSG00000196378	ENST00000449516;ENST00000527190;ENST00000343459;ENST00000429371;ENST00000534337	T;T;T	0.15952	2.38;2.38;2.38	3.77	-0.264	0.12950	.	.	.	.	.	T	0.07638	0.0192	L	0.43701	1.375	0.09310	N	1	B;B	0.22003	0.02;0.063	B;B	0.15052	0.012;0.012	T	0.34850	-0.9812	9	0.38643	T	0.18	.	0.3539	0.00353	0.1859:0.2147:0.1923:0.4071	.	198;239	E7EN25;Q8IZ26	.;ZNF34_HUMAN	E	198;168;239;218;178	ENSP00000341528:K239E;ENSP00000396894:K218E;ENSP00000434049:K178E	ENSP00000341528:K239E	K	-	1	0	ZNF34	145970423	0.000000	0.05858	0.000000	0.03702	0.933000	0.57130	-0.431000	0.06965	-0.044000	0.13491	0.496000	0.49642	AAA		0.388	ZNF34-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382936.1		NM_030580	
ZNF439	90594	broad.mit.edu;hgsc.bcm.edu	37	19	11979300	11979300	+	Silent	SNP	G	G	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr19:11979300G>T	ENST00000304030.2	+	3	1616	c.1416G>T	c.(1414-1416)ggG>ggT	p.G472G	ZNF439_ENST00000455282.1_Silent_p.G336G|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	472					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G472G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AGAAATGTGGGAAAGCCTTCA	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	53.0	52.0					19																	11979300		2203	4300	6503	SO:0001819	synonymous_variant	90594			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1416G>T	19.37:g.11979300G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	CCDS12268.1																																																																																				0.388	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			
ZNF702P	79986	broad.mit.edu	37	19	53489892	53489892	+	RNA	SNP	G	G	T			TCGA-B8-4154-01A-01D-1251-10	TCGA-B8-4154-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48f5c14-4b64-4d4b-8273-bebc74182181	92fc2606-210b-4ce0-856a-acef65c80d17	g.chr19:53489892G>T	ENST00000270443.4	-	0	252					NR_003578.1		Q9H963	ZN702_HUMAN	zinc finger protein 702, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										tcagcttcctgctttgttttc	0.498																																																	0																																												79986					19q13.41	2010-08-03	2010-08-03	2008-07-03	ENSG00000242779	ENSG00000242779			25775	pseudogene	pseudogene			"""zinc finger protein 702"", ""zinc finger protein 702 pseudogene"", ""zinc finger protein 702 (pseudogene)"""	ZNF702			Standard	NR_003578		Approved	FLJ12985	uc002qan.4	Q9H963	OTTHUMG00000150515		19.37:g.53489892G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q05BW1	RNA	SNP	ENST00000270443.4	37																																																																																					0.498	ZNF702P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000318717.1		NM_024924	
