#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PNLIPRP1	5407	broad.mit.edu	37	10	118364948	118364948	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr10:118364948T>C	ENST00000528052.1	+	12	1294	c.1223T>C	c.(1222-1224)cTg>cCg	p.L408P	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L408P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L408P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	408	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATGCAAAGCTGGATGTTGGA	0.413																																						ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(1222-1224)cTg>cCg		pancreatic lipase-related protein 1							148.0	146.0	147.0					10																	118364948		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118364948T>C	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.1223T>C	10.37:g.118364948T>C	ENSP00000433933:p.Leu408Pro					PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L408P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L408P	p.L408P			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	12	1294	+			408			PLAT.		Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.1223T>C	CCDS7595.1	.	.	.	.	.	.	.	.	.	.	-	19.95	3.921093	0.73213	.	.	ENSG00000187021	ENST00000358834;ENST00000528052;ENST00000534537	T;T;T	0.64085	-0.08;-0.08;-0.08	5.53	5.53	0.82687	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.603585	0.16428	N	0.214840	T	0.73674	0.3617	M	0.77820	2.39	0.32740	N	0.507842	D	0.61080	0.989	P	0.58013	0.831	T	0.80412	-0.1393	10	0.52906	T	0.07	-2.7852	9.2307	0.37434	0.0:0.082:0.0:0.918	.	408	P54315	LIPR1_HUMAN	P	408	ENSP00000351695:L408P;ENSP00000433933:L408P;ENSP00000434159:L408P	ENSP00000351695:L408P	L	+	2	0	PNLIPRP1	118354938	0.012000	0.17670	0.004000	0.12327	0.969000	0.65631	1.954000	0.40362	2.092000	0.63282	0.449000	0.29647	CTG		0.413	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		6	89	0	0	0	1	0	6	89				
C6orf10	10665	broad.mit.edu	37	6	32261388	32261388	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:32261388C>T	ENST00000447241.2	-	23	1234	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	C6orf10_ENST00000442822.2_Silent_p.T345T|C6orf10_ENST00000527965.1_Silent_p.T338T|C6orf10_ENST00000375015.4_Silent_p.T353T|C6orf10_ENST00000533191.1_Silent_p.T352T|C6orf10_ENST00000375007.4_Silent_p.T352T	NM_006781.3	NP_006772.3	Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	354						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACCCACTCTTCGTTACTTGGG	0.468																																						ENST00000375015.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						c.(1057-1059)acG>acA		chromosome 6 open reading frame 10							200.0	193.0	195.0					6																	32261388		1511	2709	4220	SO:0001819	synonymous_variant	10665					integral to membrane		g.chr6:32261388C>T	U60665	CCDS34422.1, CCDS69082.1, CCDS75430.1	6p21.32	2012-11-20			ENSG00000204296	ENSG00000204296			13922	protein-coding gene	gene with protein product	"""testis specific basic protein"""					10803852	Standard	XM_005248810		Approved	TSBP	uc021yvs.1	Q5SRN2	OTTHUMG00000031107	ENST00000447241.2:c.1062G>A	6.37:g.32261388C>T						C6orf10_ENST00000442822.2_Silent_p.T345T|C6orf10_ENST00000375007.4_Silent_p.T352T|C6orf10_ENST00000447241.2_Silent_p.T354T|C6orf10_ENST00000533191.1_Silent_p.T352T|C6orf10_ENST00000527965.1_Silent_p.T338T	p.T353T			Q5SRN2	CF010_HUMAN			26	1259	-			354					A2BET1|A2BET2|A6NME2|B0S7R2|B0S7R3|E9PMB1|Q5SPI9|Q5SPJ0|Q5SPK9|Q5SPL0|Q5SRN3|Q5TG25|Q5TG26|Q8N4B6	Silent	SNP	ENST00000447241.2	37	c.1059G>A	CCDS34422.1																																																																																				0.468	C6orf10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076178.4	NM_006781		20	124	0	0	0	1	0	20	124				
SLCO4C1	353189	broad.mit.edu	37	5	101582955	101582955	+	Splice_Site	SNP	C	C	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:101582955C>A	ENST00000310954.6	-	10	2098		c.e10+1			NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTGCTACATACCTTAGGATAG	0.378																																						ENST00000310954.6																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.e10+1		solute carrier organic anion transporter family, member 4C1							67.0	70.0	69.0					5																	101582955		2203	4299	6502	SO:0001630	splice_region_variant	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101582955C>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1811+1G>T	5.37:g.101582955C>A								NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	10	2098	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)							Splice_Site	SNP	ENST00000310954.6	37		CCDS34205.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442008	0.63067	.	.	ENSG00000173930	ENST00000310954	.	.	.	6.11	6.11	0.99139	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLCO4C1	101610854	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.996000	0.63914	2.906000	0.99361	0.655000	0.94253	.		0.378	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	Intron	9	48	1	0	3.09899e-07	1	3.2665e-07	9	48				
TEAD3	7005	broad.mit.edu	37	6	35445110	35445110	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:35445110C>T	ENST00000402886.3	-	6	543	c.390G>A	c.(388-390)ccG>ccA	p.P130P	TEAD3_ENST00000338863.7_Silent_p.P190P			Q99594	TEAD3_HUMAN	TEA domain family member 3	190					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GCGGCAGGGGCGGCTGGATGG	0.627																																						ENST00000338863.7																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(568-570)ccG>ccA		TEA domain family member 3							35.0	45.0	41.0					6																	35445110		2028	4180	6208	SO:0001819	synonymous_variant	7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35445110C>T	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000402886.3:c.390G>A	6.37:g.35445110C>T						TEAD3_ENST00000402886.3_Silent_p.P130P	p.P190P	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN			8	797	-			190			Pro-rich.|Transcriptional activation (Potential).		O95910|Q5BJG7|Q8N6Y4	Silent	SNP	ENST00000402886.3	37	c.570G>A																																																																																					0.627	TEAD3-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316961.2			3	20	0	0	0	1	0	3	20				
SLC6A3	6531	broad.mit.edu	37	5	1406358	1406358	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:1406358C>T	ENST00000270349.9	-	12	1671	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R515Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	515					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAGGCTGGGCCGCTGCCCGGT	0.652																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1543-1545)cGg>cAg		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						65.0	64.0	64.0					5																	1406358		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1406358C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1544G>A	5.37:g.1406358C>T	ENSP00000270349:p.Arg515Gln					SLC6A3_ENST00000453492.2_Missense_Mutation_p.R515Q	p.R515Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		12	1671	-			515					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1544G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	c	15.20	2.762468	0.49574	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75938	-0.98;-0.98	4.19	4.19	0.49359	.	0.000000	0.85682	U	0.000000	T	0.72566	0.3476	M	0.72353	2.195	0.36613	D	0.875315	B	0.33044	0.395	B	0.33620	0.167	T	0.77242	-0.2660	10	0.35671	T	0.21	.	14.03	0.64609	0.0:1.0:0.0:0.0	.	515	Q01959	SC6A3_HUMAN	Q	515	ENSP00000270349:R515Q;ENSP00000399806:R515Q	ENSP00000270349:R515Q	R	-	2	0	SLC6A3	1459358	0.111000	0.22076	1.000000	0.80357	0.912000	0.54170	1.942000	0.40243	1.904000	0.55121	0.298000	0.19748	CGG		0.652	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		9	114	0	0	0	1	0	9	114				
HCK	3055	broad.mit.edu	37	20	30667667	30667667	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:30667667C>T	ENST00000520553.1	+	6	702	c.456C>T	c.(454-456)agC>agT	p.S152S	HCK_ENST00000534862.1_Silent_p.S153S|HCK_ENST00000518730.1_Silent_p.S151S|HCK_ENST00000538448.1_Silent_p.S152S|HCK_ENST00000375852.2_Silent_p.S173S|HCK_ENST00000375862.2_Silent_p.S172S	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	173	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	TCCGGGATAGCGAGACCACTA	0.612																																						ENST00000534862.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36						c.(457-459)agC>agT		hemopoietic cell kinase							46.0	41.0	43.0					20																	30667667		2203	4300	6503	SO:0001819	synonymous_variant	3055				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr20:30667667C>T	AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.456C>T	20.37:g.30667667C>T						HCK_ENST00000538448.1_Silent_p.S152S|HCK_ENST00000375862.2_Silent_p.S172S|HCK_ENST00000375852.2_Silent_p.S173S|HCK_ENST00000518730.1_Silent_p.S151S|HCK_ENST00000520553.1_Silent_p.S152S	p.S153S	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		7	822	+			173			SH2.		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Silent	SNP	ENST00000520553.1	37	c.459C>T	CCDS54455.1																																																																																				0.612	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			4	25	0	0	0	1	0	4	25				
ASS1	445	broad.mit.edu	37	9	133333962	133333962	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr9:133333962G>A	ENST00000372394.1	+	5	830	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	ASS1_ENST00000372393.3_Missense_Mutation_p.G117S|ASS1_ENST00000352480.5_Missense_Mutation_p.G117S			P00966	ASSY_HUMAN	argininosuccinate synthase 1	117			G -> D (in CTLN1). {ECO:0000269|PubMed:11708871, ECO:0000269|PubMed:12815590}.|G -> S (in CTLN1). {ECO:0000269|PubMed:12815590}.		acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGTGTCCCACGGCGCCACAGG	0.657																																						ENST00000372394.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17	GRCh37	CM031623	ASS1	M		c.(349-351)Ggc>Agc		argininosuccinate synthase 1	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)						17.0	17.0	17.0					9																	133333962		2202	4300	6502	SO:0001583	missense	445				arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	g.chr9:133333962G>A	X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.349G>A	9.37:g.133333962G>A	ENSP00000361471:p.Gly117Ser					ASS1_ENST00000352480.5_Missense_Mutation_p.G117S|ASS1_ENST00000372393.3_Missense_Mutation_p.G117S	p.G117S			P00966	ASSY_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000514)	5	830	+			117		G -> D (in CTLN1).|G -> S (in CTLN1).			Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	c.349G>A	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.316936	0.81469	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569;ENST00000443588	D;D;D;D;D	0.99541	-6.12;-6.12;-6.12;-6.12;-6.12	4.95	4.95	0.65309	Rossmann-like alpha/beta/alpha sandwich fold (1);Argininosuccinate synthase, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99670	0.9877	H	0.94462	3.54	0.80722	D	1	P;P;P	0.47106	0.89;0.89;0.89	P;P;P	0.57502	0.822;0.822;0.822	D	0.97321	0.9944	10	0.87932	D	0	.	17.1716	0.86832	0.0:0.0:1.0:0.0	.	117;117;117	A8KAP9;Q5T6L4;P00966	.;.;ASSY_HUMAN	S	117	ENSP00000253004:G117S;ENSP00000361471:G117S;ENSP00000361469:G117S;ENSP00000394212:G117S;ENSP00000397785:G117S	ENSP00000361470:G117S	G	+	1	0	ASS1	132323783	1.000000	0.71417	0.719000	0.30619	0.546000	0.35178	8.492000	0.90471	2.280000	0.76307	0.650000	0.86243	GGC		0.657	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050		5	22	0	0	0	1	0	5	22				
RGPD3	653489	broad.mit.edu	37	2	107040564	107040564	+	Missense_Mutation	SNP	C	C	T	rs55993306	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:107040564C>T	ENST00000409886.3	-	20	3946	c.3859G>A	c.(3859-3861)Gag>Aag	p.E1287K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1287K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1287					protein targeting to Golgi (GO:0000042)			p.E1287K(2)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTTGTTGACTCATCAAAGTGG	0.408													.|||	714	0.142572	0.1021	0.1095	5008	,	,		15360	0.0724		0.2227	False		,,,				2504	0.2106					ENST00000409886.3																			2	Substitution - Missense(2)	p.E1287K(2)	kidney(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(3859-3861)Gag>Aag		RANBP2-like and GRIP domain containing 3		C	LYS/GLU	162,1158		31,100,529	162.0	121.0	134.0		3859	2.3	1.0	2	dbSNP_129	134	736,2294		196,344,975	no	missense	RGPD3	NM_001144013.1	56	227,444,1504	TT,TC,CC		24.2904,12.2727,20.6437	possibly-damaging	1287/1759	107040564	898,3452	660	1515	2175	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107040564C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3859G>A	2.37:g.107040564C>T	ENSP00000386588:p.Glu1287Lys					RGPD3_ENST00000304514.7_Missense_Mutation_p.E1287K	p.E1287K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			20	3946	-			1287					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.3859G>A	CCDS46379.1	326	0.14926739926739926	69	0.1402439024390244	41	0.1132596685082873	37	0.06468531468531469	179	0.23614775725593667	.	9.178	1.022948	0.19433	0.122727	0.242904	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.40756	1.03;1.02	2.35	2.35	0.29111	.	.	.	.	.	T	0.00012	0.0000	L	0.34521	1.04	0.30981	P	0.722513	D	0.54772	0.968	P	0.50405	0.64	T	0.03433	-1.1037	8	0.06236	T	0.91	-28.1101	10.4115	0.44296	0.0:1.0:0.0:0.0	rs55993306	1287	A6NKT7	RGPD3_HUMAN	K	1287	ENSP00000386588:E1287K;ENSP00000303659:E1287K	ENSP00000303659:E1287K	E	-	1	0	RGPD3	106406996	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	7.578000	0.82498	1.314000	0.45095	0.186000	0.17326	GAG		0.408	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		12	249	0	0	0	1	0	12	249				
TAS1R2	80834	broad.mit.edu	37	1	19181133	19181133	+	Silent	SNP	G	G	A	rs201166508		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:19181133G>A	ENST00000375371.3	-	3	852	c.831C>T	c.(829-831)ccC>ccT	p.P277P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	277					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGTCAGGTCGGGCGAGAACA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		18803	0.0		0.001	False		,,,				2504	0.0					ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(829-831)ccC>ccT		taste receptor, type 1, member 2	Aspartame(DB00168)	G		0,4406		0,0,2203	65.0	58.0	60.0		831	-10.0	0.0	1		60	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS1R2	NM_152232.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		277/840	19181133	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181133G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.831C>T	1.37:g.19181133G>A						RP13-279N23.2_ENST00000494072.3_3'UTR	p.P277P	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	852	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	277					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.831C>T	CCDS187.1																																																																																				0.632	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			6	45	0	0	0	1	0	6	45				
OR13G1	441933	broad.mit.edu	37	1	247835492	247835492	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:247835492C>T	ENST00000359688.2	-	1	873	c.852G>A	c.(850-852)ccG>ccA	p.P284P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTACACCATCGGGTTTAATG	0.438																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(850-852)ccG>ccA		olfactory receptor, family 13, subfamily G, member 1							108.0	113.0	111.0					1																	247835492		2203	4300	6503	SO:0001819	synonymous_variant	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835492C>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.852G>A	1.37:g.247835492C>T						RP11-634B7.4_ENST00000449298.1_RNA	p.P284P	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	873	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		284					B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	c.852G>A	CCDS31094.1																																																																																				0.438	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		16	81	0	0	0	1	0	16	81				
OR4P4	81300	broad.mit.edu	37	11	55406511	55406511	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:55406511C>A	ENST00000314612.2	+	1	678	c.678C>A	c.(676-678)taC>taA	p.Y226*		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCAGAGCATACTCTGCAGAGA	0.388																																						ENST00000314612.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						c.(676-678)taC>taA		olfactory receptor, family 4, subfamily P, member 4							176.0	125.0	143.0					11																	55406511		2181	4027	6208	SO:0001587	stop_gained	81300				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55406511C>A	AB065775	CCDS31504.1	11q11	2012-08-09			ENSG00000181927	ENSG00000181927		"""GPCR / Class A : Olfactory receptors"""	15180	protein-coding gene	gene with protein product				OR4P3P			Standard	NM_001004124		Approved		uc010rij.2	Q8NGL7	OTTHUMG00000165300	ENST00000314612.2:c.678C>A	11.37:g.55406511C>A	ENSP00000324831:p.Tyr226*						p.Y226*	NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN			1	678	+			226						Nonsense_Mutation	SNP	ENST00000314612.2	37	c.678C>A	CCDS31504.1	.	.	.	.	.	.	.	.	.	.	C	2.589	-0.295740	0.05532	.	.	ENSG00000181927	ENST00000314612	.	.	.	5.51	-4.79	0.03200	.	0.212728	0.23881	N	0.043641	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-3.8421	15.5286	0.75932	0.0:0.5182:0.0:0.4818	.	.	.	.	X	226	.	ENSP00000324831:Y226X	Y	+	3	2	OR4P4	55163087	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-8.878000	0.00016	-1.211000	0.02624	-0.847000	0.03039	TAC		0.388	OR4P4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383356.1	NM_001004124		6	62	1	0	3.59834e-05	1	3.74227e-05	6	62				
IGHD	3495	broad.mit.edu	37	14	106307396	106307396	+	RNA	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr14:106307396C>T	ENST00000390556.2	-	0	641							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										CCTTCCTCCACGCCCCCTGTG	0.672																																						ENST00000390556.2																			0																				20.0	23.0	22.0					14																	106307396		2094	4186	6280			0							g.chr14:106307396C>T	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106307396C>T														0	641	-								Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.672	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	NG_001019		4	13	0	0	0	1	0	4	13				
NPAP1	23742	broad.mit.edu	37	15	24921093	24921093	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:24921093C>A	ENST00000329468.2	+	1	553	c.79C>A	c.(79-81)Ccc>Acc	p.P27T		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	27					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CGCCCCCGCTCCCCTGTCCCG	0.701																																						ENST00000329468.2																			0											c.(79-81)Ccc>Acc		nuclear pore associated protein 1							6.0	8.0	7.0					15																	24921093		1890	3792	5682	SO:0001583	missense	23742							g.chr15:24921093C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.79C>A	15.37:g.24921093C>A	ENSP00000333735:p.Pro27Thr						p.P27T	NM_018958.2	NP_061831.2					1	553	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.79C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	8.309	0.821747	0.16678	.	.	ENSG00000185823	ENST00000329468	T	0.07327	3.2	2.42	-1.94	0.07571	.	.	.	.	.	T	0.04363	0.0120	L	0.29908	0.895	0.09310	N	1	P	0.35821	0.523	B	0.29598	0.104	T	0.44034	-0.9354	9	0.16420	T	0.52	.	6.1182	0.20137	0.0:0.5342:0.0:0.4658	.	27	Q9NZP6	CO002_HUMAN	T	27	ENSP00000333735:P27T	ENSP00000333735:P27T	P	+	1	0	C15orf2	22472186	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.137000	0.01304	-0.411000	0.07530	0.484000	0.47621	CCC		0.701	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		6	18	1	0	0.0215528	1	0.0218327	6	18				
DPP10	57628	broad.mit.edu	37	2	116497433	116497433	+	Silent	SNP	G	G	A	rs573090640		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:116497433G>A	ENST00000410059.1	+	9	1296	c.816G>A	c.(814-816)gcG>gcA	p.A272A	DPP10_ENST00000409163.1_Silent_p.A222A|DPP10_ENST00000310323.8_Silent_p.A265A|DPP10_ENST00000393147.2_Silent_p.A276A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	272						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTACTGGAGCGTTGTATCCCA	0.458													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20092	0.0		0.0	False		,,,				2504	0.0					ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(814-816)gcG>gcA		dipeptidyl-peptidase 10 (non-functional)							235.0	206.0	216.0					2																	116497433		2203	4300	6503	SO:0001819	synonymous_variant	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116497433G>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.816G>A	2.37:g.116497433G>A						DPP10_ENST00000393147.2_Silent_p.A276A|DPP10_ENST00000310323.8_Silent_p.A265A|DPP10_ENST00000409163.1_Silent_p.A222A	p.A272A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			9	1296	+			272					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	ENST00000410059.1	37	c.816G>A	CCDS46400.1																																																																																				0.458	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		19	119	0	0	0	1	0	19	119				
SRSF11	9295	broad.mit.edu	37	1	70715634	70715634	+	Splice_Site	SNP	G	G	C			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:70715634G>C	ENST00000370950.3	+	11	1104		c.e11-1		SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000370949.1_Splice_Site|SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TGTGATTCTAGAGAGAGACGA	0.418																																						ENST00000370950.3																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.e11-1		serine/arginine-rich splicing factor 11							77.0	83.0	81.0					1																	70715634		2203	4300	6503	SO:0001630	splice_region_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70715634G>C	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1023-1G>C	1.37:g.70715634G>C						SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000484162.1_Splice_Site|SRSF11_ENST00000370949.1_Splice_Site|SRSF11_ENST00000370951.1_Splice_Site				Q05519	SRS11_HUMAN			11	1104	+								Q5T758|Q8IWE6	Splice_Site	SNP	ENST00000370950.3	37		CCDS647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.06|19.06	3.753326|3.753326	0.69648|0.69648	.|.	.|.	ENSG00000116754|ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000370949|ENST00000395136	.|T	.|0.14640	.|2.49	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|.	.|.	.|.	.|.	.|T	.|0.04634	.|0.0126	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.38504	.|0.634	.|B	.|0.30572	.|0.117	.|T	.|0.41893	.|-0.9483	.|8	.|0.18276	.|T	.|0.48	.|.	19.2521|19.2521	0.93929|0.93929	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|348	.|Q6PJB9	.|.	.|T	-1|348	.|ENSP00000378568:R348T	.|ENSP00000378568:R348T	.|R	+|+	.|2	.|0	SRSF11|SRSF11	70488222|70488222	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.857000|0.857000	0.48899|0.48899	4.925000|4.925000	0.63425|0.63425	2.730000|2.730000	0.93505|0.93505	0.655000|0.655000	0.94253|0.94253	.|AGA		0.418	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768	Intron	5	37	0	0	0	1	0	5	37				
IGHV3-53	28420	broad.mit.edu	37	14	107048694	107048694	+	RNA	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr14:107048694G>A	ENST00000390627.2	-	0	546									immunoglobulin heavy variable 3-53																		ATACACGGCCGTGTCCTCGGC	0.552																																						ENST00000390627.2																			0																				100.0	119.0	113.0					14																	107048694		2079	4250	6329			0							g.chr14:107048694G>A	M99679		14q32.33	2012-02-08			ENSG00000211967	ENSG00000211967		"""Immunoglobulins / IGH locus"""	5610	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151966		14.37:g.107048694G>A														0	546	-									RNA	SNP	ENST00000390627.2	37																																																																																						0.552	IGHV3-53-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324612.1	NG_001019		31	228	0	0	0	1	0	31	228				
CCKBR	887	broad.mit.edu	37	11	6292257	6292257	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:6292257C>T	ENST00000334619.2	+	5	1021	c.828C>T	c.(826-828)aaC>aaT	p.N276N	CCKBR_ENST00000532715.1_Silent_p.N192N|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000525462.1_Silent_p.N345N	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	276					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCACCAGAACGGGCGTTGCC	0.662																																						ENST00000525462.1																			0				NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(1033-1035)aaC>aaT		cholecystokinin B receptor	Pentagastrin(DB00183)						45.0	47.0	47.0					11																	6292257		2201	4296	6497	SO:0001819	synonymous_variant	887				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	g.chr11:6292257C>T	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.828C>T	11.37:g.6292257C>T						CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000532715.1_Silent_p.N192N|CCKBR_ENST00000334619.2_Silent_p.N276N	p.N345N			P32239	GASR_HUMAN		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	4	1038	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	276					A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	ENST00000334619.2	37	c.1035C>T	CCDS7761.1																																																																																				0.662	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257230.2	NM_176875		13	110	0	0	0	1	0	13	110				
ZZEF1	23140	broad.mit.edu	37	17	3937518	3937518	+	Silent	SNP	G	G	A	rs35511240	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:3937518G>A	ENST00000381638.2	-	40	6499	c.6375C>T	c.(6373-6375)aaC>aaT	p.N2125N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2125							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGTGGCCTGCGTTTGAGATGA	0.527													G|||	7	0.00139776	0.0008	0.0014	5008	,	,		20378	0.0		0.003	False		,,,				2504	0.002					ENST00000381638.2																			0				central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						c.(6373-6375)aaC>aaT		zinc finger, ZZ-type with EF-hand domain 1		G		4,4402	8.1+/-20.4	0,4,2199	101.0	88.0	92.0		6375	-8.9	0.3	17	dbSNP_126	92	80,8520	46.7+/-105.8	1,78,4221	no	coding-synonymous	ZZEF1	NM_015113.3		1,82,6420	AA,AG,GG		0.9302,0.0908,0.6459		2125/2962	3937518	84,12922	2203	4300	6503	SO:0001819	synonymous_variant	23140						calcium ion binding|zinc ion binding	g.chr17:3937518G>A	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.6375C>T	17.37:g.3937518G>A							p.N2125N	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN			40	6499	-			2125					A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	c.6375C>T	CCDS11043.1																																																																																				0.527	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113		6	72	0	0	0	1	0	6	72				
KDM5B	10765	broad.mit.edu	37	1	202702739	202702739	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:202702739C>T	ENST00000367265.3	-	23	4863	c.3699G>A	c.(3697-3699)ctG>ctA	p.L1233L	KDM5B_ENST00000367264.2_Silent_p.L1269L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1233					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGAGCAGGGGCAGAATTTTCT	0.532																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(3697-3699)ctG>ctA		lysine (K)-specific demethylase 5B							60.0	61.0	60.0					1																	202702739		2203	4300	6503	SO:0001819	synonymous_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202702739C>T	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.3699G>A	1.37:g.202702739C>T						KDM5B_ENST00000367264.2_Silent_p.L1269L	p.L1233L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			23	4863	-			1233					O95811|Q15752|Q9Y3Q5	Silent	SNP	ENST00000367265.3	37	c.3699G>A	CCDS30974.1																																																																																				0.532	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		14	68	0	0	0	1	0	14	68				
PDE7B	27115	broad.mit.edu	37	6	136494954	136494954	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:136494954A>G	ENST00000308191.6	+	9	1034	c.731A>G	c.(730-732)aAt>aGt	p.N244S	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	244	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GTGCTGGAGAATCATCACTGG	0.428																																						ENST00000308191.6																			0				breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(730-732)aAt>aGt		phosphodiesterase 7B	Dyphylline(DB00651)|Ketotifen(DB00920)						111.0	98.0	102.0					6																	136494954		2203	4300	6503	SO:0001583	missense	27115				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr6:136494954A>G	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.731A>G	6.37:g.136494954A>G	ENSP00000310661:p.Asn244Ser					RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	p.N244S	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	9	1034	+	Colorectal(23;0.24)		244			Catalytic (By similarity).		Q5W154	Missense_Mutation	SNP	ENST00000308191.6	37	c.731A>G	CCDS5175.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.619809	0.46736	.	.	ENSG00000171408	ENST00000308191;ENST00000367787	D	0.83250	-1.7	5.48	5.48	0.80851	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.043524	0.85682	D	0.000000	T	0.72342	0.3448	L	0.51914	1.62	0.53005	D	0.999969	P;P	0.37636	0.495;0.603	B;B	0.35931	0.091;0.214	T	0.77115	-0.2707	10	0.51188	T	0.08	.	15.8657	0.79063	1.0:0.0:0.0:0.0	.	296;244	A1E5M1;Q9NP56	.;PDE7B_HUMAN	S	244;380	ENSP00000310661:N244S	ENSP00000310661:N244S	N	+	2	0	PDE7B	136536647	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.441000	0.80485	2.207000	0.71202	0.460000	0.39030	AAT		0.428	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1			10	40	0	0	0	1	0	10	40				
TAS2R40	259286	broad.mit.edu	37	7	142919425	142919425	+	Missense_Mutation	SNP	G	G	A	rs374345239		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:142919425G>A	ENST00000408947.3	+	1	296	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	AC073342.1_ENST00000595842.1_5'Flank	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	85					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CTGCTATTCCGAATTGTTTAT	0.433																																						ENST00000408947.3																			0				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(253-255)cGa>cAa		taste receptor, type 2, member 40		G	GLN/ARG	1,3789		0,1,1894	134.0	130.0	131.0		254	-9.7	0.0	7		131	0,8262		0,0,4131	no	missense	TAS2R40	NM_176882.1	43	0,1,6025	AA,AG,GG		0.0,0.0264,0.0083	benign	85/324	142919425	1,12051	1895	4131	6026	SO:0001583	missense	259286				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:142919425G>A	AF494229	CCDS43662.1	7q34	2012-08-22	2003-12-16		ENSG00000221937	ENSG00000221937		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18885	protein-coding gene	gene with protein product		613964	"""G protein-coupled receptor 60"""	GPR60		12379855	Standard	NM_176882		Approved		uc011ksx.2	P59535	OTTHUMG00000152638	ENST00000408947.3:c.254G>A	7.37:g.142919425G>A	ENSP00000386210:p.Arg85Gln						p.R85Q	NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN			1	296	+	Melanoma(164;0.059)		85					A4D2I2|Q645W6	Missense_Mutation	SNP	ENST00000408947.3	37	c.254G>A	CCDS43662.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537388	0.27475	2.64E-4	0.0	ENSG00000221937	ENST00000408947	T	0.37058	1.22	4.95	-9.74	0.00509	.	2.041890	0.02853	U	0.129314	T	0.21307	0.0513	L	0.31664	0.95	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.07083	-1.0791	10	0.22706	T	0.39	.	7.8451	0.29421	0.1769:0.6043:0.1267:0.0921	.	85	P59535	T2R40_HUMAN	Q	85	ENSP00000386210:R85Q	ENSP00000386210:R85Q	R	+	2	0	TAS2R40	142629547	0.000000	0.05858	0.000000	0.03702	0.129000	0.20672	-3.847000	0.00351	-1.597000	0.01609	-0.211000	0.12701	CGA		0.433	TAS2R40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327097.1			12	113	0	0	0	1	0	12	113				
XKR7	343702	broad.mit.edu	37	20	30584347	30584347	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:30584347C>T	ENST00000562532.2	+	3	1001	c.827C>T	c.(826-828)aCg>aTg	p.T276M		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	276						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCCTGGACGCTGGCCTCC	0.701																																						ENST00000217299.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						c.(826-828)aCg>aTg		XK, Kell blood group complex subunit-related family, member 7							19.0	18.0	18.0					20																	30584347		2200	4298	6498	SO:0001583	missense	343702					integral to membrane		g.chr20:30584347C>T	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.827C>T	20.37:g.30584347C>T	ENSP00000477059:p.Thr276Met						p.T276M	NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1001	+			276					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.827C>T	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	c	11.94	1.789412	0.31685	.	.	ENSG00000101321	ENST00000217299	T	0.63417	-0.04	5.04	3.99	0.46301	.	0.084536	0.85682	D	0.000000	T	0.19967	0.0480	N	0.00538	-1.39	0.36704	D	0.88025	B	0.31241	0.315	B	0.15870	0.014	T	0.17561	-1.0365	10	0.25106	T	0.35	.	3.6615	0.08240	0.0:0.6523:0.0:0.3477	.	276	Q5GH72	XKR7_HUMAN	M	276	ENSP00000217299:T276M	ENSP00000217299:T276M	T	+	2	0	XKR7	30048008	1.000000	0.71417	0.982000	0.44146	0.960000	0.62799	3.459000	0.53021	2.350000	0.79820	0.556000	0.70494	ACG		0.701	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		6	35	0	0	0	1	0	6	35				
SURF2	6835	broad.mit.edu	37	9	136227174	136227174	+	Missense_Mutation	SNP	C	C	T	rs587600299	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr9:136227174C>T	ENST00000371964.4	+	5	592	c.551C>T	c.(550-552)aCg>aTg	p.T184M		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	184						nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CTTGGAAGCACGGAGGATGGG	0.527													c|||	2	0.000399361	0.0	0.0	5008	,	,		22016	0.002		0.0	False		,,,				2504	0.0					ENST00000371964.4																			0				breast(1)|large_intestine(1)|lung(4)	6						c.(550-552)aCg>aTg		surfeit 2							122.0	114.0	116.0					9																	136227174		2203	4300	6503	SO:0001583	missense	6835						protein binding	g.chr9:136227174C>T		CCDS6967.1	9q33-q34	2008-07-21			ENSG00000148291	ENSG00000148291			11475	protein-coding gene	gene with protein product	"""surfeit locus protein 2"""	185630					Standard	NM_017503		Approved		uc004cdi.2	Q15527	OTTHUMG00000020867	ENST00000371964.4:c.551C>T	9.37:g.136227174C>T	ENSP00000361032:p.Thr184Met						p.T184M	NM_017503.3	NP_059973.3	Q15527	SURF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)	5	592	+			184					Q6IBP9|Q96CD1	Missense_Mutation	SNP	ENST00000371964.4	37	c.551C>T	CCDS6967.1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.508402	0.27036	.	.	ENSG00000148291	ENST00000371964	T	0.31510	1.49	4.04	4.04	0.47022	.	0.624222	0.15379	N	0.265435	T	0.30230	0.0758	L	0.51422	1.61	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.16100	-1.0414	10	0.48119	T	0.1	-0.3918	14.2023	0.65712	0.0:1.0:0.0:0.0	.	184	Q15527	SURF2_HUMAN	M	184	ENSP00000361032:T184M	ENSP00000361032:T184M	T	+	2	0	SURF2	135216995	0.002000	0.14202	0.005000	0.12908	0.013000	0.08279	1.629000	0.37071	2.177000	0.69029	0.455000	0.32223	ACG		0.527	SURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054883.1	NM_017503		4	49	0	0	0	1	0	4	49				
LPO	4025	broad.mit.edu	37	17	56343663	56343663	+	Missense_Mutation	SNP	C	C	T	rs200102644		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:56343663C>T	ENST00000262290.4	+	11	1985	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	LPO_ENST00000543544.1_Missense_Mutation_p.R498C|LPO_ENST00000421678.2_Missense_Mutation_p.R474C|LPO_ENST00000582328.1_Missense_Mutation_p.R474C	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	557					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAACACACAGCGTTGCCGGGA	0.502																																						ENST00000262290.4																			0				breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						c.(1669-1671)Cgt>Tgt		lactoperoxidase							52.0	47.0	49.0					17																	56343663		2203	4300	6503	SO:0001583	missense	0				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56343663C>T	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1669C>T	17.37:g.56343663C>T	ENSP00000262290:p.Arg557Cys					LPO_ENST00000543544.1_Missense_Mutation_p.R498C|LPO_ENST00000582328.1_Missense_Mutation_p.R474C|LPO_ENST00000421678.2_Missense_Mutation_p.R474C	p.R557C	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN			11	1985	+			557					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1669C>T	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023920	0.75390	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	D;D;D	0.84516	-1.86;-1.86;-1.86	5.82	4.78	0.61160	.	0.000000	0.85682	D	0.000000	D	0.95573	0.8561	H	0.98426	4.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97039	0.9756	10	0.87932	D	0	-22.8419	16.7827	0.85567	0.1373:0.8627:0.0:0.0	.	474;557	E7EMJ3;P22079	.;PERL_HUMAN	C	557;474;498;302	ENSP00000262290:R557C;ENSP00000400245:R474C;ENSP00000445344:R498C	ENSP00000262290:R557C	R	+	1	0	LPO	53698662	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.979000	0.49313	2.756000	0.94617	0.655000	0.94253	CGT		0.502	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			7	53	0	0	0	1	0	7	53				
POTEE	445582	broad.mit.edu	37	2	131976382	131976382	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:131976382G>A	ENST00000356920.5	+	1	501	c.407G>A	c.(406-408)cGt>cAt	p.R136H	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R136H|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	136					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TACCACGTCCGTGGAGAAGAT	0.592																																						ENST00000356920.5																			0											c.(406-408)cGt>cAt		POTE ankyrin domain family, member E							64.0	67.0	66.0					2																	131976382		2202	4300	6502	SO:0001583	missense	445582						ATP binding	g.chr2:131976382G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.407G>A	2.37:g.131976382G>A	ENSP00000439189:p.Arg136His					PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R136H	p.R136H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	501	+			136					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.407G>A	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	11.23	1.578417	0.28180	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.53206	0.63;0.63	1.05	-2.11	0.07187	.	.	.	.	.	T	0.32645	0.0836	L	0.27053	0.805	0.09310	N	1	D	0.64830	0.994	P	0.47744	0.556	T	0.16778	-1.0391	9	0.44086	T	0.13	.	2.6334	0.04951	0.2337:0.3068:0.4596:0.0	.	136	Q6S8J3	POTEE_HUMAN	H	136	ENSP00000439189:R136H;ENSP00000443049:R136H	ENSP00000439189:R136H	R	+	2	0	AC131180.1	131692852	0.000000	0.05858	0.002000	0.10522	0.096000	0.18686	-0.035000	0.12205	-0.514000	0.06488	-1.597000	0.00832	CGT		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		13	90	0	0	0	1	0	13	90				
CWC22	57703	broad.mit.edu	37	2	180810177	180810177	+	Silent	SNP	A	A	G	rs572443430		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:180810177A>G	ENST00000410053.3	-	20	2705	c.2406T>C	c.(2404-2406)aaT>aaC	p.N802N	CWC22_ENST00000295749.6_Silent_p.N802N	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	802					mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GGTCTCTGTCATTCGCAACTC	0.353																																						ENST00000410053.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						c.(2404-2406)aaT>aaC		CWC22 spliceosome-associated protein homolog (S. cerevisiae)							234.0	223.0	226.0					2																	180810177		1858	4098	5956	SO:0001819	synonymous_variant	57703					catalytic step 2 spliceosome	protein binding|RNA binding	g.chr2:180810177A>G		CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.2406T>C	2.37:g.180810177A>G						CWC22_ENST00000295749.6_Silent_p.N802N	p.N802N	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN			20	2705	-			802					Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Silent	SNP	ENST00000410053.3	37	c.2406T>C	CCDS46465.1																																																																																				0.353	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1	NM_020943		9	117	0	0	0	1	0	9	117				
ATP10A	57194	broad.mit.edu	37	15	25959052	25959052	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:25959052A>G	ENST00000356865.6	-	10	2224	c.2113T>C	c.(2113-2115)Tat>Cat	p.Y705H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	705					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGGCCGCATACACCAGTGCG	0.662																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2113-2115)Tat>Cat		ATPase, class V, type 10A							52.0	50.0	51.0					15																	25959052		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25959052A>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2113T>C	15.37:g.25959052A>G	ENSP00000349325:p.Tyr705His						p.Y705H	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2224	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	705					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2113T>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	A	5.242	0.230190	0.09969	.	.	ENSG00000206190	ENST00000356865	T	0.68025	-0.3	4.5	0.85	0.18980	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.180613	0.50627	N	0.000116	T	0.45955	0.1368	N	0.26042	0.785	0.43771	D	0.996293	B	0.11235	0.004	B	0.13407	0.009	T	0.14671	-1.0464	10	0.14656	T	0.56	-11.4232	8.2853	0.31924	0.7618:0.0:0.2382:0.0	.	705	O60312	AT10A_HUMAN	H	705	ENSP00000349325:Y705H	ENSP00000349325:Y705H	Y	-	1	0	ATP10A	23510145	1.000000	0.71417	0.380000	0.26093	0.240000	0.25518	5.014000	0.64029	0.215000	0.20761	0.459000	0.35465	TAT		0.662	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		21	86	0	0	0	1	0	21	86				
DYNC2H1	79659	broad.mit.edu	37	11	102995846	102995846	+	Missense_Mutation	SNP	G	G	A	rs561232842		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:102995846G>A	ENST00000375735.2	+	12	1823	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R560Q|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R560Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	560	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTAGTAGTCGAATTATGGAA	0.333																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(1678-1680)cGa>cAa		dynein, cytoplasmic 2, heavy chain 1							81.0	77.0	78.0					11																	102995846		1823	4083	5906	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:102995846G>A	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.1679G>A	11.37:g.102995846G>A	ENSP00000364887:p.Arg560Gln					DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R560Q|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R560Q	p.R560Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	12	1823	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	560			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.1679G>A	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285966	0.40394	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.34472	1.62;1.36;1.63	5.42	3.55	0.40652	Dynein heavy chain, domain-1 (1);	0.858079	0.09020	U	0.860377	T	0.31575	0.0801	L	0.45581	1.43	0.28334	N	0.921672	B;B;B	0.15473	0.013;0.002;0.001	B;B;B	0.12837	0.006;0.005;0.008	T	0.31194	-0.9952	10	0.59425	D	0.04	.	5.7322	0.18047	0.2424:0.185:0.5725:0.0	.	560;560;560	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	Q	560	ENSP00000364887:R560Q;ENSP00000334021:R560Q;ENSP00000381167:R560Q	ENSP00000334021:R560Q	R	+	2	0	DYNC2H1	102501056	0.996000	0.38824	0.999000	0.59377	0.947000	0.59692	2.464000	0.45067	0.657000	0.30906	0.650000	0.86243	CGA		0.333	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		7	14	0	0	0	1	0	7	14				
RASAL1	8437	broad.mit.edu	37	12	113539707	113539707	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:113539707G>A	ENST00000261729.5	-	20	2524	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	RASAL1_ENST00000418411.2_5'Flank|RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W|RASAL1_ENST00000546530.1_Missense_Mutation_p.R739W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	737					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCTGGTCCCGCCCCAGGAGC	0.627																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(2215-2217)Cgg>Tgg		RAS protein activator like 1 (GAP1 like)							50.0	44.0	46.0					12																	113539707		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113539707G>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.2209C>T	12.37:g.113539707G>A	ENSP00000261729:p.Arg737Trp					RASAL1_ENST00000261729.5_Missense_Mutation_p.R737W|RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W	p.R739W	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			20	2500	-			737					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.2215C>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	g	19.80	3.895478	0.72639	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.70399	-0.47;-0.39;-0.48;-0.47	5.16	4.19	0.49359	.	0.196943	0.41712	D	0.000840	T	0.76521	0.3999	M	0.70275	2.135	0.30704	N	0.750018	D;D;D;D	0.71674	0.996;0.998;0.992;0.998	P;P;P;P	0.55824	0.721;0.785;0.614;0.702	T	0.76296	-0.3011	10	0.46703	T	0.11	.	10.0546	0.42237	0.0:0.0:0.6026:0.3974	.	738;739;737;709	F8VRH9;F8VQX1;O95294;O95294-2	.;.;RASL1_HUMAN;.	W	739;737;709;738	ENSP00000450244:R739W;ENSP00000261729:R737W;ENSP00000395920:R709W;ENSP00000448510:R738W	ENSP00000261729:R737W	R	-	1	2	RASAL1	112024090	0.875000	0.30112	1.000000	0.80357	0.989000	0.77384	1.172000	0.31908	2.393000	0.81446	0.556000	0.70494	CGG		0.627	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		5	47	0	0	0	1	0	5	47				
NPAP1	23742	broad.mit.edu	37	15	24921092	24921092	+	Silent	SNP	T	T	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:24921092T>A	ENST00000329468.2	+	1	552	c.78T>A	c.(76-78)gcT>gcA	p.A26A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	26					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GCGCCCCCGCTCCCCTGTCCC	0.701																																						ENST00000329468.2																			0											c.(76-78)gcT>gcA		nuclear pore associated protein 1							6.0	8.0	7.0					15																	24921092		1876	3767	5643	SO:0001819	synonymous_variant	23742							g.chr15:24921092T>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.78T>A	15.37:g.24921092T>A							p.A26A	NM_018958.2	NP_061831.2					1	552	+									Silent	SNP	ENST00000329468.2	37	c.78T>A	CCDS10015.1																																																																																				0.701	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	19	0	0	0	1	0	5	19				
PDGFRA	5156	broad.mit.edu	37	4	55131161	55131161	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr4:55131161G>A	ENST00000257290.5	+	5	1035	c.704G>A	c.(703-705)tGt>tAt	p.C235Y	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	235	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.C235Y(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GTGGTCACCTGTGCTGTTTTT	0.443			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		1	Substitution - Missense(1)	p.C235Y(1)	central_nervous_system(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(703-705)tGt>tAt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						168.0	160.0	163.0					4																	55131161		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131161G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.704G>A	4.37:g.55131161G>A	ENSP00000257290:p.Cys235Tyr	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	p.C235Y	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1035	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		235			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.704G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468445	0.84533	.	.	ENSG00000134853	ENST00000257290	T	0.73789	-0.78	5.26	5.26	0.73747	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34700	U	0.003745	D	0.87767	0.6260	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89420	0.3709	10	0.87932	D	0	.	18.8692	0.92306	0.0:0.0:1.0:0.0	.	235;235	P16234-3;P16234	.;PGFRA_HUMAN	Y	235	ENSP00000257290:C235Y	ENSP00000257290:C235Y	C	+	2	0	PDGFRA	54825918	1.000000	0.71417	0.969000	0.41365	0.816000	0.46133	7.968000	0.87980	2.470000	0.83445	0.491000	0.48974	TGT		0.443	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		510	129	0	0	0	1	0	510	129				
BRF1	2972	broad.mit.edu	37	14	105688184	105688184	+	Silent	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr14:105688184G>A	ENST00000546474.1	-	11	16075	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	BRF1_ENST00000392557.4_Silent_p.A168A|BRF1_ENST00000446501.2_Silent_p.A134A|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_5'Flank|BRF1_ENST00000440513.3_Silent_p.A257A|BRF1_ENST00000327359.3_Silent_p.A257A|BRF1_ENST00000379937.2_Silent_p.A345A	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	372					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GGCTGGCCGCGGCTTCCAGCT	0.637																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1114-1116)gcC>gcT		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							26.0	17.0	20.0					14																	105688184		2197	4291	6488	SO:0001819	synonymous_variant	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105688184G>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1116C>T	14.37:g.105688184G>A						BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000440513.3_Silent_p.A257A|BRF1_ENST00000392557.4_Silent_p.A168A|BRF1_ENST00000327359.3_Silent_p.A257A|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379937.2_Silent_p.A345A|BRF1_ENST00000446501.2_Silent_p.A134A	p.A372A	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	11	16075	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	372					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Silent	SNP	ENST00000546474.1	37	c.1116C>T	CCDS10001.1																																																																																				0.637	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		4	21	0	0	0	1	0	4	21				
SLC6A3	6531	broad.mit.edu	37	5	1406386	1406386	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:1406386C>T	ENST00000270349.9	-	12	1643	c.1516G>A	c.(1516-1518)Gac>Aac	p.D506N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D506N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	506					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGGATGTCGTCGCTGAACTGC	0.642																																						ENST00000270349.9																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1516-1518)Gac>Aac		solute carrier family 6 (neurotransmitter transporter), member 3	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						76.0	71.0	73.0					5																	1406386		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1406386C>T		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1516G>A	5.37:g.1406386C>T	ENSP00000270349:p.Asp506Asn					SLC6A3_ENST00000453492.2_Missense_Mutation_p.D506N	p.D506N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		12	1643	-			506					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1516G>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	c	9.262	1.043413	0.19748	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.74737	-0.87;-0.87	4.19	4.19	0.49359	.	0.149864	0.48767	U	0.000173	T	0.66356	0.2781	L	0.45352	1.415	0.52099	D	0.999947	B	0.18741	0.03	B	0.17979	0.02	T	0.62941	-0.6747	10	0.30078	T	0.28	.	14.03	0.64609	0.0:1.0:0.0:0.0	.	506	Q01959	SC6A3_HUMAN	N	506	ENSP00000270349:D506N;ENSP00000399806:D506N	ENSP00000270349:D506N	D	-	1	0	SLC6A3	1459386	0.995000	0.38212	0.958000	0.39756	0.425000	0.31504	3.350000	0.52224	1.904000	0.55121	0.298000	0.19748	GAC		0.642	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		11	117	0	0	0	1	0	11	117				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	40	0	0	0	1	0	4	40				
CTC-260E6.6	0	broad.mit.edu	37	19	20369135	20369135	+	RNA	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:20369135C>T	ENST00000593655.1	-	0	199																											caaagtgtggcgttttcctaa	0.458																																						ENST00000593655.1																			0																																																			0							g.chr19:20369135C>T																													19.37:g.20369135C>T														0	199	-									RNA	SNP	ENST00000593655.1	37																																																																																						0.458	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1			4	26	0	0	0	1	0	4	26				
ZNF536	9745	broad.mit.edu	37	19	31040081	31040081	+	Silent	SNP	C	C	T	rs373198343		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:31040081C>T	ENST00000355537.3	+	4	3702	c.3555C>T	c.(3553-3555)acC>acT	p.T1185T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1185					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGTTGAAACCGAACCGGAAA	0.572																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(3553-3555)acC>acT		zinc finger protein 536		C		0,4406		0,0,2203	66.0	67.0	66.0		3555	-11.2	0.0	19		66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZNF536	NM_014717.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1185/1301	31040081	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31040081C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3555C>T	19.37:g.31040081C>T							p.T1185T	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	3702	+	Esophageal squamous(110;0.0834)		1185					A2RU18	Silent	SNP	ENST00000355537.3	37	c.3555C>T	CCDS32984.1																																																																																				0.572	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		8	70	0	0	0	1	0	8	70				
GLIS1	148979	broad.mit.edu	37	1	53995560	53995560	+	Silent	SNP	C	C	T	rs376177881		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:53995560C>T	ENST00000312233.2	-	4	1427	c.861G>A	c.(859-861)acG>acA	p.T287T		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTTCTCGCCCGTGTGGCTCC	0.637																																						ENST00000312233.2																			0				endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						c.(859-861)acG>acA		GLIS family zinc finger 1		C		1,4405	2.1+/-5.4	0,1,2202	63.0	66.0	65.0		861	-3.4	1.0	1		65	0,8600		0,0,4300	no	coding-synonymous	GLIS1	NM_147193.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		287/621	53995560	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:53995560C>T	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.861G>A	1.37:g.53995560C>T							p.T287T	NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN			4	1427	-			287						Silent	SNP	ENST00000312233.2	37	c.861G>A	CCDS582.1																																																																																				0.637	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		9	65	0	0	0	1	0	9	65				
CDC20B	166979	broad.mit.edu	37	5	54424345	54424345	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:54424345G>T	ENST00000381375.2	-	7	943	c.798C>A	c.(796-798)aaC>aaA	p.N266K	CDC20B_ENST00000334206.5_Missense_Mutation_p.N266K|CDC20B_ENST00000322374.6_Missense_Mutation_p.N266K|CDC20B_ENST00000296733.1_Missense_Mutation_p.N266K			Q86Y33	CD20B_HUMAN	cell division cycle 20B	266										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTAAGTCTATGTTTTCAATCC	0.448																																						ENST00000334206.5																			0				kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19						c.(796-798)aaC>aaA		cell division cycle 20B							159.0	162.0	161.0					5																	54424345		2203	4300	6503	SO:0001583	missense	166979							g.chr5:54424345G>T	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.798C>A	5.37:g.54424345G>T	ENSP00000370781:p.Asn266Lys					CDC20B_ENST00000322374.6_Missense_Mutation_p.N266K|CDC20B_ENST00000381375.2_Missense_Mutation_p.N266K|CDC20B_ENST00000296733.1_Missense_Mutation_p.N266K	p.N266K			Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		7	974	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	266					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Missense_Mutation	SNP	ENST00000381375.2	37	c.798C>A	CCDS54852.1	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.886659	0.00527	.	.	ENSG00000164287	ENST00000334206;ENST00000296733;ENST00000381375;ENST00000322374	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	4.6	1.46	0.22682	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.422460	0.19914	N	0.103239	T	0.14527	0.0351	N	0.17474	0.49	0.43808	D	0.996362	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.002;0.0;0.001	T	0.11131	-1.0600	10	0.51188	T	0.08	-13.9184	1.6593	0.02788	0.2003:0.1616:0.4733:0.1649	.	266;266;266;266	Q86Y33-4;Q86Y33-3;Q86Y33;Q86Y33-2	.;.;CD20B_HUMAN;.	K	266	ENSP00000335664:N266K;ENSP00000296733:N266K;ENSP00000370781:N266K;ENSP00000315720:N266K	ENSP00000296733:N266K	N	-	3	2	CDC20B	54460102	0.935000	0.31712	0.850000	0.33497	0.261000	0.26267	-0.049000	0.11924	0.063000	0.16370	0.650000	0.86243	AAC		0.448	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1	NM_152623		8	68	1	0	0.00448238	1	0.00460034	8	68				
GPR98	84059	broad.mit.edu	37	5	89979459	89979459	+	Silent	SNP	T	T	C			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:89979459T>C	ENST00000405460.2	+	28	5817	c.5721T>C	c.(5719-5721)tcT>tcC	p.S1907S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1907	Calx-beta 13. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATAGACTCTGATCCTGATG	0.403																																						ENST00000405460.2																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(5719-5721)tcT>tcC		G protein-coupled receptor 98							63.0	63.0	63.0					5																	89979459		1950	4140	6090	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89979459T>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5721T>C	5.37:g.89979459T>C							p.S1907S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	28	5817	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1907					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.5721T>C	CCDS47246.1																																																																																				0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		3	25	0	0	0	1	0	3	25				
EFCAB1	79645	broad.mit.edu	37	8	49643961	49643961	+	Nonsense_Mutation	SNP	G	G	A	rs201706002		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr8:49643961G>A	ENST00000262103.3	-	2	240	c.160C>T	c.(160-162)Cga>Tga	p.R54*	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000523092.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	54							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGGATGTTTCGAAATGCATTA	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		16776	0.001		0.0	False		,,,				2504	0.0					ENST00000262103.3																			0				endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14						c.(160-162)Cga>Tga		EF-hand calcium binding domain 1							127.0	114.0	118.0					8																	49643961		2203	4300	6503	SO:0001587	stop_gained	79645						calcium ion binding	g.chr8:49643961G>A		CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.160C>T	8.37:g.49643961G>A	ENSP00000262103:p.Arg54*					EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron	p.R54*	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN			2	240	-		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)	54					B4DSB4|E7EVN7	Nonsense_Mutation	SNP	ENST00000262103.3	37	c.160C>T	CCDS6145.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	32	5.154769	0.94686	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	.	.	.	4.89	1.95	0.26073	.	0.052062	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.917	0.52771	0.0:0.0:0.386:0.614	.	.	.	.	X	54	.	ENSP00000262103:R54X	R	-	1	2	EFCAB1	49806514	1.000000	0.71417	0.985000	0.45067	0.962000	0.63368	1.451000	0.35145	0.285000	0.22329	-0.188000	0.12872	CGA		0.393	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593		6	31	0	0	0	1	0	6	31				
HS3ST6	64711	broad.mit.edu	37	16	1962006	1962006	+	Missense_Mutation	SNP	C	C	T	rs534111598	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr16:1962006C>T	ENST00000293937.3	-	2	613	c.614G>A	c.(613-615)cGc>cAc	p.R205H	HS3ST6_ENST00000454677.2_Missense_Mutation_p.R222H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R174H			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	205					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						GGCCAGGGCGCGGAAGCTGGG	0.716													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13153	0.0		0.0	False		,,,				2504	0.001					ENST00000454677.2																			0				endometrium(2)|lung(2)	4						c.(664-666)cGc>cAc		heparan sulfate (glucosamine) 3-O-sulfotransferase 6							14.0	19.0	17.0					16																	1962006		2174	4281	6455	SO:0001583	missense	64711							g.chr16:1962006C>T			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.614G>A	16.37:g.1962006C>T	ENSP00000293937:p.Arg205His					HS3ST6_ENST00000293937.3_Missense_Mutation_p.R205H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R174H	p.R222H			C9JH64	C9JH64_HUMAN			2	730	-			174					Q96RX7	Missense_Mutation	SNP	ENST00000293937.3	37	c.665G>A		.	.	.	.	.	.	.	.	.	.	C	10.31	1.315208	0.23908	.	.	ENSG00000162040	ENST00000293937;ENST00000443547;ENST00000454677	D;D	0.82255	-1.59;-1.59	4.84	1.4	0.22301	Sulfotransferase domain (1);	0.312565	0.34986	N	0.003539	T	0.61862	0.2381	N	0.04705	-0.18	0.33852	D	0.632808	B	0.06786	0.001	B	0.13407	0.009	T	0.59742	-0.7397	10	0.72032	D	0.01	.	5.4069	0.16326	0.0:0.4231:0.0:0.5769	.	205	Q96QI5	HS3S6_HUMAN	H	205;174;244	ENSP00000293937:R205H;ENSP00000390354:R174H	ENSP00000293937:R205H	R	-	2	0	HS3ST6	1902007	0.940000	0.31905	0.615000	0.29064	0.741000	0.42261	1.677000	0.37576	0.490000	0.27771	-0.304000	0.09214	CGC		0.716	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		9	42	0	0	0	1	0	9	42				
MADD	8567	broad.mit.edu	37	11	47304014	47304014	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:47304014C>T	ENST00000311027.5	+	9	1717	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	MADD_ENST00000395336.3_Missense_Mutation_p.R518W|MADD_ENST00000395344.3_Missense_Mutation_p.R518W|MADD_ENST00000402799.1_Missense_Mutation_p.R518W|MADD_ENST00000406482.1_Missense_Mutation_p.R518W|MADD_ENST00000342922.4_Missense_Mutation_p.R518W|MADD_ENST00000402192.2_Missense_Mutation_p.R518W|MADD_ENST00000407859.3_Missense_Mutation_p.R518W|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000349238.3_Missense_Mutation_p.R518W	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTCTTTCCTCGGCCTGTGGT	0.562																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(1552-1554)Cgg>Tgg		MAP-kinase activating death domain							113.0	109.0	111.0					11																	47304014		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47304014C>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1552C>T	11.37:g.47304014C>T	ENSP00000310933:p.Arg518Trp					MADD_ENST00000402192.2_Missense_Mutation_p.R518W|MADD_ENST00000395336.3_Missense_Mutation_p.R518W|MADD_ENST00000349238.3_Missense_Mutation_p.R518W|MADD_ENST00000311027.5_Missense_Mutation_p.R518W|MADD_ENST00000395344.3_Missense_Mutation_p.R518W|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000406482.1_Missense_Mutation_p.R518W|MADD_ENST00000407859.3_Missense_Mutation_p.R518W|MADD_ENST00000402799.1_Missense_Mutation_p.R518W	p.R518W	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	9	1909	+			518			dDENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.1552C>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	36	5.608697	0.96626	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.77	5.77	0.91146	dDENN (3);	0.000000	0.85682	D	0.000000	T	0.69806	0.3152	M	0.68317	2.08	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.999;1.0;1.0	T	0.70197	-0.4938	10	0.87932	D	0	-17.4453	20.3473	0.98799	0.0:1.0:0.0:0.0	.	518;518;518;518;518;518;518;518;518;518	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	W	518	ENSP00000343902:R518W;ENSP00000385585:R518W;ENSP00000384435:R518W;ENSP00000304505:R518W;ENSP00000310933:R518W;ENSP00000384204:R518W;ENSP00000378753:R518W;ENSP00000378745:R518W;ENSP00000384287:R518W	ENSP00000310933:R518W	R	+	1	2	MADD	47260590	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.419000	0.80179	2.884000	0.98904	0.655000	0.94253	CGG		0.562	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			10	85	0	0	0	1	0	10	85				
CEP97	79598	broad.mit.edu	37	3	101476897	101476897	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:101476897C>T	ENST00000341893.3	+	9	2199	c.1447C>T	c.(1447-1449)Cct>Tct	p.P483S	CEP97_ENST00000327230.4_Missense_Mutation_p.P483S|CEP97_ENST00000494050.1_Missense_Mutation_p.P424S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	483	CCP110-binding.				cell projection organization (GO:0030030)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGACTATTACCTTGTCCTGA	0.378																																						ENST00000341893.3																			0				cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						c.(1447-1449)Cct>Tct		centrosomal protein 97kDa							110.0	111.0	111.0					3																	101476897		2203	4300	6503	SO:0001583	missense	79598					centrosome|nucleus	protein binding	g.chr3:101476897C>T	AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504			26244	protein-coding gene	gene with protein product		615864	"""leucine-rich repeats and IQ motif containing 2"""	LRRIQ2		17719545, 18068367	Standard	NM_024548		Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000341893.3:c.1447C>T	3.37:g.101476897C>T	ENSP00000342510:p.Pro483Ser					CEP97_ENST00000494050.1_Missense_Mutation_p.P424S|CEP97_ENST00000327230.4_Missense_Mutation_p.P483S	p.P483S			Q8IW35	CEP97_HUMAN			9	2199	+			483			CEP110 binding.		B5MDY8|Q8NA71|Q9H5T9	Missense_Mutation	SNP	ENST00000341893.3	37	c.1447C>T	CCDS2944.1	.	.	.	.	.	.	.	.	.	.	C	0.292	-0.979209	0.02197	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	T;T;T	0.52754	0.81;0.76;0.65	5.37	4.48	0.54585	.	0.753475	0.12531	N	0.460832	T	0.34890	0.0913	L	0.32530	0.975	0.09310	N	1	B;B;B	0.12630	0.0;0.006;0.001	B;B;B	0.12156	0.001;0.007;0.001	T	0.20438	-1.0275	10	0.27785	T	0.31	-10.8681	7.572	0.27913	0.0:0.7201:0.1505:0.1293	.	424;483;483	E9PG22;Q8IW35-2;Q8IW35	.;.;CEP97_HUMAN	S	483;483;424	ENSP00000342510:P483S;ENSP00000325881:P483S;ENSP00000418185:P424S	ENSP00000325881:P483S	P	+	1	0	CEP97	102959587	0.000000	0.05858	0.612000	0.29024	0.007000	0.05969	-0.189000	0.09629	1.210000	0.43336	0.305000	0.20034	CCT		0.378	CEP97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353597.2	NM_024548		16	75	0	0	0	1	0	16	75				
ASZ1	136991	broad.mit.edu	37	7	117067417	117067417	+	Missense_Mutation	SNP	G	G	A	rs113501399		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:117067417G>A	ENST00000284629.2	-	1	160	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TACCTGAGACGTCCGGTCGAG	0.657																																						ENST00000284629.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(97-99)aCg>aTg		ankyrin repeat, SAM and basic leucine zipper domain containing 1							106.0	100.0	102.0					7																	117067417		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117067417G>A	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.98C>T	7.37:g.117067417G>A	ENSP00000284629:p.Thr33Met						p.T33M	NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		1	160	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		33						Missense_Mutation	SNP	ENST00000284629.2	37	c.98C>T	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.269416	0.40095	.	.	ENSG00000154438	ENST00000284629	T	0.67865	-0.29	5.06	3.24	0.37175	.	1.265160	0.05020	N	0.472573	T	0.50905	0.1643	N	0.22421	0.69	0.09310	N	1	P;P	0.41710	0.76;0.76	B;B	0.34873	0.191;0.191	T	0.46624	-0.9178	10	0.56958	D	0.05	-6.8874	6.5903	0.22644	0.0906:0.0:0.7327:0.1767	.	33;33	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	M	33	ENSP00000284629:T33M	ENSP00000284629:T33M	T	-	2	0	ASZ1	116854653	0.011000	0.17503	0.020000	0.16555	0.213000	0.24496	1.408000	0.34668	0.819000	0.34492	-0.150000	0.13652	ACG		0.657	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		24	148	0	0	0	1	0	24	148				
PRSS35	167681	broad.mit.edu	37	6	84233953	84233953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:84233953C>T	ENST00000369700.3	+	2	970	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PRSS35_ENST00000536636.1_Nonsense_Mutation_p.R265*	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	265	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTGGGCACGAGGAGGCAT	0.527																																						ENST00000536636.1																			0				breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(793-795)Cga>Tga		protease, serine, 35							57.0	61.0	59.0					6																	84233953		2203	4300	6503	SO:0001587	stop_gained	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84233953C>T	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.793C>T	6.37:g.84233953C>T	ENSP00000358714:p.Arg265*					PRSS35_ENST00000369700.3_Nonsense_Mutation_p.R265*	p.R265*	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	3	1138	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	265			Peptidase S1.		A8K7B3|Q9BQP6	Nonsense_Mutation	SNP	ENST00000369700.3	37	c.793C>T	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452436	0.63290	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	.	.	.	5.91	3.48	0.39840	.	0.260062	0.41823	D	0.000804	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.5274	12.8076	0.57622	0.7302:0.2698:0.0:0.0	.	.	.	.	X	265	.	ENSP00000358714:R265X	R	+	1	2	PRSS35	84290672	0.984000	0.35163	0.001000	0.08648	0.161000	0.22273	2.817000	0.48034	0.474000	0.27392	-0.521000	0.04368	CGA		0.527	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362		8	60	0	0	0	1	0	8	60				
SAMD3	154075	broad.mit.edu	37	6	130497110	130497110	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:130497110C>T	ENST00000368134.2	-	10	1306	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	SAMD3_ENST00000457563.2_Missense_Mutation_p.R257Q|SAMD3_ENST00000439090.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000532763.1_Missense_Mutation_p.R231Q	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	233										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TATGGGTCTTCGAACATATTT	0.343																																						ENST00000532763.1																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29						c.(691-693)cGa>cAa		sterile alpha motif domain containing 3							113.0	111.0	112.0					6																	130497110		2203	4299	6502	SO:0001583	missense	154075							g.chr6:130497110C>T	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.698G>A	6.37:g.130497110C>T	ENSP00000357116:p.Arg233Gln					SAMD3_ENST00000457563.2_Missense_Mutation_p.R257Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R233Q	p.R231Q			Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	7	821	-			233					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.692G>A	CCDS34539.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.798084	0.90538	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477;ENST00000532763	T;T;T;T;T	0.79141	-1.14;-1.24;-1.14;-1.14;-0.42	5.69	5.69	0.88448	.	0.000000	0.53938	D	0.000052	T	0.72471	0.3464	M	0.76002	2.32	0.80722	D	1	D	0.58620	0.983	P	0.44422	0.449	T	0.78513	-0.2175	10	0.66056	D	0.02	.	12.3161	0.54958	0.0:0.9226:0.0:0.0774	.	233	Q8N6K7	SAMD3_HUMAN	Q	233;257;233;233;231	ENSP00000357116:R233Q;ENSP00000402092:R257Q;ENSP00000403565:R233Q;ENSP00000391163:R233Q;ENSP00000436088:R231Q	ENSP00000357116:R233Q	R	-	2	0	SAMD3	130538803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.483000	0.53194	2.677000	0.91161	0.655000	0.94253	CGA		0.343	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		9	43	0	0	0	1	0	9	43				
MKI67	4288	broad.mit.edu	37	10	129902797	129902797	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr10:129902797T>C	ENST00000368654.3	-	13	7682	c.7307A>G	c.(7306-7308)gAc>gGc	p.D2436G	MKI67_ENST00000368653.3_Missense_Mutation_p.D2076G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2436	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAACCAGGTCCTCTAGAGC	0.473																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(7306-7308)gAc>gGc		marker of proliferation Ki-67							142.0	135.0	137.0					10																	129902797		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902797T>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7307A>G	10.37:g.129902797T>C	ENSP00000357643:p.Asp2436Gly					MKI67_ENST00000368653.3_Missense_Mutation_p.D2076G	p.D2436G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	7682	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2436			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7307A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.956969	0.53293	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.06371	3.31;3.31	3.85	3.85	0.44370	.	0.846639	0.10080	N	0.718586	T	0.22936	0.0554	M	0.70595	2.14	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.953;0.995;0.999	T	0.08889	-1.0700	10	0.33141	T	0.24	.	11.5098	0.50486	0.0:0.0:0.0:1.0	.	2435;2076;2436	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	G	2436;2076;2435	ENSP00000357643:D2436G;ENSP00000357642:D2076G	ENSP00000357642:D2076G	D	-	2	0	MKI67	129792787	0.265000	0.24102	0.008000	0.14137	0.014000	0.08584	0.994000	0.29693	1.508000	0.48769	0.379000	0.24179	GAC		0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		25	101	0	0	0	1	0	25	101				
B3GNT5	84002	broad.mit.edu	37	3	182988131	182988131	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:182988131A>G	ENST00000326505.3	+	2	1075	c.545A>G	c.(544-546)tAt>tGt	p.Y182C	MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.Y182C|MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.Y182C	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	182					cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycolipid biosynthetic process (GO:0009247)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity (GO:0008457)|galactosyltransferase activity (GO:0008378)|lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase activity (GO:0047256)|lipopolysaccharide N-acetylglucosaminyltransferase activity (GO:0008917)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCAAATACCTATTGTCCACAT	0.333																																						ENST00000326505.3																			0				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8						c.(544-546)tAt>tGt		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5							94.0	93.0	94.0					3																	182988131		2203	4300	6503	SO:0001583	missense	84002				central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr3:182988131A>G	AB045278	CCDS3244.1	3q28	2013-02-21			ENSG00000176597	ENSG00000176597	2.4.1.206	"""Beta 3-glycosyltransferases"""	15684	protein-coding gene	gene with protein product	"""lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase"""	615333				11283017	Standard	XM_005247824		Approved	B3GN-T5, beta3Gn-T5	uc003flk.3	Q9BYG0	OTTHUMG00000158436	ENST00000326505.3:c.545A>G	3.37:g.182988131A>G	ENSP00000316173:p.Tyr182Cys					B3GNT5_ENST00000465010.1_Missense_Mutation_p.Y182C|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.Y182C|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron	p.Y182C	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		2	1075	+	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		182					D3DNS5|Q59FE3|Q7L9Z5|Q8WWP9	Missense_Mutation	SNP	ENST00000326505.3	37	c.545A>G	CCDS3244.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.598341	0.46318	.	.	ENSG00000176597	ENST00000326505;ENST00000460419;ENST00000465010	T;T;T	0.44083	0.93;0.93;0.93	5.91	1.73	0.24493	.	0.273852	0.36665	N	0.002479	T	0.59715	0.2214	M	0.89658	3.05	0.39485	D	0.96795	D	0.56968	0.978	P	0.53722	0.733	T	0.68364	-0.5428	10	0.56958	D	0.05	.	11.4792	0.50316	0.578:0.0:0.0:0.422	.	182	Q9BYG0	B3GN5_HUMAN	C	182	ENSP00000316173:Y182C;ENSP00000420778:Y182C;ENSP00000417868:Y182C	ENSP00000316173:Y182C	Y	+	2	0	B3GNT5	184470825	1.000000	0.71417	0.858000	0.33744	0.985000	0.73830	2.639000	0.46570	0.399000	0.25367	-0.451000	0.05528	TAT		0.333	B3GNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351009.1	NM_032047		19	82	0	0	0	1	0	19	82				
LILRA3	11026	broad.mit.edu	37	19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:54803127C>T	ENST00000251390.3	-	4	641	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	LILRA3_ENST00000391745.1_Missense_Mutation_p.V201M|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	184	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.V184M(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567																																						ENST00000391745.1																			1	Substitution - Missense(1)	p.V184M(1)	upper_aerodigestive_tract(1)	NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(601-603)Gtg>Atg		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3							130.0	110.0	117.0					19																	54803127		2195	4163	6358	SO:0001583	missense	0							g.chr19:54803127C>T	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.550G>A	19.37:g.54803127C>T	ENSP00000251390:p.Val184Met					LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.V184M	p.V201M						GBM - Glioblastoma multiforme(193;0.105)	8	917	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.601G>A	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.713240	0.30413	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.00792	5.69;5.69	2.21	0.0188	0.14118	Immunoglobulin-like fold (1);	0.499376	0.16837	N	0.197508	T	0.01189	0.0039	L	0.39514	1.22	0.09310	N	1	D	0.65815	0.995	P	0.53518	0.728	T	0.52866	-0.8518	10	0.48119	T	0.1	.	4.2498	0.10689	0.0:0.6373:0.0:0.3627	.	184	Q8N6C8	LIRA3_HUMAN	M	184;201	ENSP00000251390:V184M;ENSP00000375625:V201M	ENSP00000251390:V184M	V	-	1	0	LILRA3	59494939	0.007000	0.16637	0.028000	0.17463	0.014000	0.08584	0.231000	0.17872	0.085000	0.17107	-0.236000	0.12185	GTG		0.567	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			23	177	0	0	0	1	0	23	177				
PIK3CA	5290	broad.mit.edu	37	3	178922364	178922364	+	Missense_Mutation	SNP	G	G	A	rs397514565		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:178922364G>A	ENST00000263967.3	+	6	1290	c.1133G>A	c.(1132-1134)tGt>tAt	p.C378Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	378	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> Y (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C378Y(2)|p.C378F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAGTACCTTGTTCCAATCCC	0.328		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		3	Substitution - Missense(3)	p.C378Y(2)|p.C378F(1)	endometrium(2)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1132-1134)tGt>tAt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							190.0	150.0	162.0					3																	178922364		1837	4093	5930	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178922364G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1133G>A	3.37:g.178922364G>A	ENSP00000263967:p.Cys378Tyr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C378Y	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		6	1290	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		378			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1133G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145088	0.57044	.	.	ENSG00000121879	ENST00000263967	T	0.76060	-0.99	5.61	5.61	0.85477	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.68860	0.3047	L	0.46157	1.445	0.80722	D	1	P	0.45957	0.869	B	0.42916	0.402	T	0.67055	-0.5767	10	0.05620	T	0.96	-17.9134	19.6274	0.95684	0.0:0.0:1.0:0.0	.	378	P42336	PK3CA_HUMAN	Y	378	ENSP00000263967:C378Y	ENSP00000263967:C378Y	C	+	2	0	PIK3CA	180405058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.382000	0.97209	2.643000	0.89663	0.650000	0.86243	TGT		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			4	49	0	0	0	1	0	4	49				
OBSCN	84033	broad.mit.edu	37	1	228487678	228487678	+	Intron	SNP	G	G	A	rs573702782	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:228487678G>A	ENST00000422127.1	+	43	11703				OBSCN_ENST00000570156.2_Missense_Mutation_p.V4524M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V1214M|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCGGCCCCCGTGGAGTGGAG	0.557													G|||	2	0.000399361	0.0	0.0	5008	,	,		18706	0.0		0.0	False		,,,				2504	0.002					ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13570-13572)Gtg>Atg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							112.0	101.0	104.0					1																	228487678		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228487678G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11659+4934G>A	1.37:g.228487678G>A						OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.V1214M|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron	p.V4524M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			51	13644	+		Prostate(94;0.0405)	3567			Fibronectin type-III 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.13570G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326501	0.81690	.	.	ENSG00000154358	ENST00000366707	T	0.76968	-1.06	4.37	4.37	0.52481	.	.	.	.	.	D	0.83594	0.5288	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.85414	0.1139	6	0.72032	D	0.01	.	12.2486	0.54585	0.0:0.0:0.8301:0.1699	.	.	.	.	M	1214	ENSP00000355668:V1214M	ENSP00000355668:V1214M	V	+	1	0	OBSCN	226554301	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.463000	0.66712	2.229000	0.72834	0.561000	0.74099	GTG		0.557	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	55	0	0	0	1	0	9	55				
TET2	54790	broad.mit.edu	37	4	106157894	106157894	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr4:106157894A>G	ENST00000540549.1	+	3	3655	c.2795A>G	c.(2794-2796)gAc>gGc	p.D932G	TET2_ENST00000305737.2_Missense_Mutation_p.D932G|TET2_ENST00000513237.1_Missense_Mutation_p.D953G|TET2_ENST00000394764.1_Missense_Mutation_p.D932G|TET2_ENST00000380013.4_Missense_Mutation_p.D932G|TET2_ENST00000413648.2_Missense_Mutation_p.D932G|TET2_ENST00000545826.1_Missense_Mutation_p.D932G			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	932	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCTGTGCCTGACCAGGGAGGA	0.453			"""Mis N, F"""		MDS																																	ENST00000513237.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(2857-2859)gAc>gGc		tet methylcytosine dioxygenase 2							69.0	60.0	63.0					4																	106157894		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157894A>G	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2795A>G	4.37:g.106157894A>G	ENSP00000442788:p.Asp932Gly					TET2_ENST00000380013.4_Missense_Mutation_p.D932G|TET2_ENST00000413648.2_Missense_Mutation_p.D932G|TET2_ENST00000545826.1_Missense_Mutation_p.D932G|TET2_ENST00000305737.2_Missense_Mutation_p.D932G|TET2_ENST00000394764.1_Missense_Mutation_p.D932G|TET2_ENST00000540549.1_Missense_Mutation_p.D932G	p.D953G			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3655	+		Myeloproliferative disorder(5;0.0393)	932			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.2858A>G	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	A	11.53	1.666626	0.29604	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.04317	3.65;4.32;3.68;4.32;4.32;3.65;3.66	5.79	2.02	0.26589	.	0.765224	0.11080	U	0.601938	T	0.03348	0.0097	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.001;0.001;0.01	B;B;B	0.14023	0.002;0.002;0.01	T	0.42430	-0.9452	10	0.62326	D	0.03	.	6.5453	0.22402	0.732:0.1318:0.1362:0.0	.	953;932;932	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	G	932;932;932;953;932;932;932	ENSP00000306705:D932G;ENSP00000442788:D932G;ENSP00000442867:D932G;ENSP00000425443:D953G;ENSP00000369351:D932G;ENSP00000378245:D932G;ENSP00000391448:D932G	ENSP00000265149:D932G	D	+	2	0	TET2	106377343	0.184000	0.23200	0.006000	0.13384	0.916000	0.54674	3.258000	0.51507	0.433000	0.26313	0.533000	0.62120	GAC		0.453	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		12	37	0	0	0	1	0	12	37				
LILRB2	10288	broad.mit.edu	37	19	54783825	54783825	+	Missense_Mutation	SNP	C	C	T	rs141797988		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:54783825C>T	ENST00000391749.4	-	4	447	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000434421.1_Intron|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000314446.5_Missense_Mutation_p.R59H|LILRB2_ENST00000391748.1_Missense_Mutation_p.R59H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R59H	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	59	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTATATAGACGGTACTCCTG	0.547																																						ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(175-177)cGt>cAt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2		T	HIS/ARG,HIS/ARG	0,4406		0,0,2203	192.0	188.0	189.0		176,176	-4.8	0.0	19	dbSNP_134	189	4,8596	819.1+/-406.8	0,4,4296	yes	missense,missense	LILRB2	NM_001080978.2,NM_005874.3	29,29	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	benign,benign	59/598,59/599	54783825	4,13002	2203	4300	6503	SO:0001583	missense	0				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783825C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.176G>A	19.37:g.54783825C>T	ENSP00000375629:p.Arg59His					LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.R59H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R59H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R59H|LILRB2_ENST00000434421.1_Intron	p.R59H	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	303	-	Ovarian(34;0.19)		59			Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.176G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.771308	0.00645	0.0	4.65E-4	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	2.41	-4.83	0.03161	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.899010	0.00927	N	0.002675	T	0.06142	0.0159	N	0.12422	0.21	0.09310	N	1	B;B;B	0.23937	0.094;0.025;0.022	B;B;B	0.19391	0.025;0.025;0.007	T	0.35724	-0.9777	10	0.02654	T	1	.	4.8189	0.13381	0.3445:0.4077:0.0:0.2478	.	59;76;59	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	H	59	ENSP00000375628:R59H;ENSP00000319960:R59H;ENSP00000375629:R59H;ENSP00000375626:R59H	ENSP00000319960:R59H	R	-	2	0	LILRB2	59475637	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-7.069000	0.00045	-4.623000	0.00039	-2.181000	0.00316	CGT		0.547	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			24	178	0	0	0	1	0	24	178				
FMO3	2328	broad.mit.edu	37	1	171079965	171079965	+	Silent	SNP	C	C	G			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:171079965C>G	ENST00000367755.4	+	6	765	c.654C>G	c.(652-654)tcC>tcG	p.S218S	FMO3_ENST00000538429.1_Silent_p.S155S|FMO3_ENST00000542847.1_Silent_p.S198S|FMO3_ENST00000392085.2_Silent_p.S218S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	218					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	GAAGTGGCTCCTGGGTGATGA	0.473																																						ENST00000367755.4																			0				endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31						c.(652-654)tcC>tcG		flavin containing monooxygenase 3							183.0	165.0	171.0					1																	171079965		2203	4300	6503	SO:0001819	synonymous_variant	2328				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity	g.chr1:171079965C>G	BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.654C>G	1.37:g.171079965C>G						FMO3_ENST00000542847.1_Silent_p.S198S|FMO3_ENST00000392085.2_Silent_p.S218S|FMO3_ENST00000538429.1_Silent_p.S155S	p.S218S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN			6	765	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		218					B2R816|Q14854|Q8N5N5	Silent	SNP	ENST00000367755.4	37	c.654C>G	CCDS1292.1																																																																																				0.473	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086219.1	NM_006894		10	96	0	0	0	1	0	10	96				
PCDH11X	27328	broad.mit.edu	37	X	91133911	91133911	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chrX:91133911C>A	ENST00000373094.1	+	2	3517	c.2672C>A	c.(2671-2673)aCt>aAt	p.T891N	PCDH11X_ENST00000395337.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T891N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T891N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	891					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTGAAGAAACTAAGGCAGAT	0.373																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(2671-2673)aCt>aAt		protocadherin 11 X-linked							105.0	96.0	99.0					X																	91133911		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133911C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2672C>A	X.37:g.91133911C>A	ENSP00000362186:p.Thr891Asn					PCDH11X_ENST00000373097.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000504220.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T891N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T891N	p.T891N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	3517	+			891					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.2672C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	8.943	0.966375	0.18659	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.16	4.27	0.50696	Protocadherin (1);	0.294842	0.38164	N	0.001800	T	0.23806	0.0576	N	0.25647	0.755	0.27636	N	0.947869	B;B;B;B;B;B;B;B	0.14805	0.009;0.009;0.009;0.009;0.009;0.011;0.009;0.009	B;B;B;B;B;B;B;B	0.19666	0.008;0.008;0.015;0.015;0.015;0.026;0.008;0.008	T	0.15925	-1.0420	10	0.52906	T	0.07	.	12.9561	0.58427	0.1629:0.8371:0.0:0.0	.	891;891;891;891;891;891;891;891	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	N	891	ENSP00000378746:T891N;ENSP00000362186:T891N;ENSP00000362189:T891N;ENSP00000355040:T891N;ENSP00000362180:T891N;ENSP00000423762:T891N;ENSP00000355105:T891N;ENSP00000384758:T891N;ENSP00000298274:T891N	ENSP00000298274:T891N	T	+	2	0	PCDH11X	91020567	1.000000	0.71417	0.137000	0.22149	0.894000	0.52154	4.415000	0.59809	0.893000	0.36288	0.600000	0.82982	ACT		0.373	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		15	44	1	0	4.29497e-23	1	4.65288e-23	15	44				
PPP1R3A	5506	broad.mit.edu	37	7	113517983	113517983	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:113517983G>A	ENST00000284601.3	-	4	3232	c.3164C>T	c.(3163-3165)cCt>cTt	p.P1055L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1055					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCCTCAACAGGAAGACTAGT	0.363																																						ENST00000284601.3																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(3163-3165)cCt>cTt		protein phosphatase 1, regulatory subunit 3A							172.0	171.0	171.0					7																	113517983		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113517983G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.3164C>T	7.37:g.113517983G>A	ENSP00000284601:p.Pro1055Leu						p.P1055L	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			4	3232	-			1055					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.3164C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	6.039	0.375558	0.11409	.	.	ENSG00000154415	ENST00000284601	T	0.17691	2.26	5.71	2.95	0.34219	.	0.915169	0.09292	N	0.822179	T	0.33030	0.0849	M	0.69823	2.125	0.09310	N	1	D	0.65815	0.995	P	0.60345	0.873	T	0.13361	-1.0512	10	0.59425	D	0.04	4.0E-4	4.2866	0.10858	0.1345:0.1257:0.6096:0.1303	.	1055	Q16821	PPR3A_HUMAN	L	1055	ENSP00000284601:P1055L	ENSP00000284601:P1055L	P	-	2	0	PPP1R3A	113305219	0.027000	0.19231	0.000000	0.03702	0.016000	0.09150	1.180000	0.32005	0.349000	0.23975	-0.133000	0.14855	CCT		0.363	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		18	150	0	0	0	1	0	18	150				
CFH	3075	broad.mit.edu	37	1	196716352	196716352	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:196716352A>T	ENST00000367429.4	+	22	3845	c.3605A>T	c.(3604-3606)aAa>aTa	p.K1202I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1202	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGTGTGTAAACGGGGATAT	0.383																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(3604-3606)aAa>aTa		complement factor H							219.0	196.0	204.0					1																	196716352		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196716352A>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3605A>T	1.37:g.196716352A>T	ENSP00000356399:p.Lys1202Ile						p.K1202I	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			22	3845	+			1202			Sushi 20.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.3605A>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	11.49	1.653953	0.29425	.	.	ENSG00000000971	ENST00000367429	D	0.85773	-2.03	4.17	-3.4	0.04853	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.75975	0.3923	L	0.60904	1.88	0.09310	N	0.999999	B	0.26400	0.148	B	0.25506	0.061	T	0.58679	-0.7594	9	0.17832	T	0.49	.	4.3752	0.11267	0.4994:0.0:0.1591:0.3414	.	1202	P08603	CFAH_HUMAN	I	1202	ENSP00000356399:K1202I	ENSP00000356399:K1202I	K	+	2	0	CFH	194982975	0.126000	0.22350	0.002000	0.10522	0.000000	0.00434	0.058000	0.14301	-0.725000	0.04901	-1.815000	0.00603	AAA		0.383	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186		15	85	0	0	0	1	0	15	85				
OR5L1	219437	broad.mit.edu	37	11	55579059	55579059	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:55579059G>T	ENST00000333973.2	+	1	206	c.117G>T	c.(115-117)ttG>ttT	p.L39F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GAGTCACGTTGTTAGCCAACC	0.507																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(115-117)ttG>ttT		olfactory receptor, family 5, subfamily L, member 1							312.0	274.0	287.0					11																	55579059		2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579059G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.117G>T	11.37:g.55579059G>T	ENSP00000335529:p.Leu39Phe						p.L39F	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	206	+		all_epithelial(135;0.208)	39					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.117G>T	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	3.594	-0.083070	0.07141	.	.	ENSG00000186117	ENST00000333973	T	0.00558	6.61	4.32	-8.64	0.00874	.	0.380249	0.19348	N	0.116465	T	0.00496	0.0016	M	0.64630	1.985	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.48305	-0.9047	10	0.62326	D	0.03	-23.9225	7.2171	0.25965	0.146:0.2406:0.5121:0.1013	.	39	Q8NGL2	OR5L1_HUMAN	F	39	ENSP00000335529:L39F	ENSP00000335529:L39F	L	+	3	2	OR5L1	55335635	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-4.428000	0.00235	-4.564000	0.00042	-2.449000	0.00209	TTG		0.507	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		33	209	1	0	4.74835e-14	1	5.07358e-14	33	209				
MAP1S	55201	broad.mit.edu	37	19	17845112	17845112	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:17845112G>C	ENST00000324096.4	+	7	3206	c.3055G>C	c.(3055-3057)Gcc>Ccc	p.A1019P	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A993P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1019	Necessary for association with actin. {ECO:0000250}.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGACTCGGTGGCCATGCATAC	0.657																																						ENST00000324096.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						c.(3055-3057)Gcc>Ccc		microtubule-associated protein 1S							99.0	70.0	80.0					19																	17845112		2203	4300	6503	SO:0001583	missense	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17845112G>C	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.3055G>C	19.37:g.17845112G>C	ENSP00000325313:p.Ala1019Pro					CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Missense_Mutation_p.A993P	p.A1019P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN			7	3206	+			1019			Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	ENST00000324096.4	37	c.3055G>C	CCDS32954.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.240137	0.22711	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.18338	2.22;2.22	4.59	3.55	0.40652	.	0.294585	0.24242	N	0.040250	T	0.12860	0.0312	L	0.29908	0.895	0.23533	N	0.997471	B;B	0.29341	0.242;0.093	B;B	0.27170	0.077;0.054	T	0.18053	-1.0349	10	0.66056	D	0.02	-23.0477	10.6107	0.45421	0.0969:0.0:0.9031:0.0	.	993;1019	B4DH53;Q66K74	.;MAP1S_HUMAN	P	1019;993	ENSP00000325313:A1019P;ENSP00000439243:A993P	ENSP00000325313:A1019P	A	+	1	0	MAP1S	17706112	1.000000	0.71417	0.099000	0.21106	0.131000	0.20780	4.448000	0.60027	1.045000	0.40225	0.561000	0.74099	GCC		0.657	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1	NM_018174		6	56	0	0	0	1	0	6	56				
KDM7A	80853	broad.mit.edu	37	7	139810958	139810958	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:139810958A>C	ENST00000397560.2	-	11	1462	c.1365T>G	c.(1363-1365)atT>atG	p.I455M	JHDM1D_ENST00000006967.5_Missense_Mutation_p.I455M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7A_HUMAN		455					histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|midbrain development (GO:0030901)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleus (GO:0005634)	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)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CATTGTCTGGAATTTCAAAGG	0.294																																						ENST00000397560.2																			0				central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22						c.(1363-1365)atT>atG									116.0	107.0	110.0					7																	139810958		1810	4075	5885	SO:0001583	missense	0				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chr7:139810958A>C																												ENST00000397560.2:c.1365T>G	7.37:g.139810958A>C	ENSP00000380692:p.Ile455Met					JHDM1D_ENST00000006967.5_Missense_Mutation_p.I455M	p.I455M	NM_030647.1	NP_085150.1	Q6ZMT4	KDM7_HUMAN			11	1462	-	Melanoma(164;0.0142)		455					A4D1S9|C9JJH9|C9JQU2|Q6MZL8|Q9C0E5	Missense_Mutation	SNP	ENST00000397560.2	37	c.1365T>G	CCDS43658.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.153987	0.57259	.	.	ENSG00000006459	ENST00000397560;ENST00000006967	T;T	0.55413	0.52;0.52	5.4	4.23	0.50019	.	0.172377	0.51477	D	0.000085	T	0.54271	0.1848	L	0.52905	1.665	0.42695	D	0.993598	D	0.55172	0.97	P	0.50708	0.648	T	0.57365	-0.7824	10	0.87932	D	0	-18.6431	8.2379	0.31638	0.8393:0.0:0.1607:0.0	.	455	Q6ZMT4	KDM7_HUMAN	M	455	ENSP00000380692:I455M;ENSP00000006967:I455M	ENSP00000006967:I455M	I	-	3	3	JHDM1D	139457427	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.248000	0.32827	0.966000	0.38159	0.533000	0.62120	ATT		0.294	JHDM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348460.1			6	35	0	0	0	1	0	6	35				
DSC3	1825	broad.mit.edu	37	18	28581601	28581601	+	Missense_Mutation	SNP	G	G	A	rs114935867	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr18:28581601G>A	ENST00000360428.4	-	14	2298	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	DSC3_ENST00000434452.1_Missense_Mutation_p.P740S	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	740					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCGTCTCCAGGTGCTTCTGTG	0.308													G|||	6	0.00119808	0.0	0.0043	5008	,	,		13667	0.0		0.003	False		,,,				2504	0.0					ENST00000434452.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(2218-2220)Cct>Tct		desmocollin 3		G	SER/PRO,SER/PRO	4,4402	8.1+/-20.4	0,4,2199	87.0	90.0	89.0		2218,2218	4.5	1.0	18	dbSNP_132	89	32,8564	22.8+/-68.1	0,32,4266	yes	missense,missense	DSC3	NM_001941.3,NM_024423.2	74,74	0,36,6465	AA,AG,GG		0.3723,0.0908,0.2769	probably-damaging,probably-damaging	740/897,740/840	28581601	36,12966	2203	4298	6501	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28581601G>A	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.2218C>T	18.37:g.28581601G>A	ENSP00000353608:p.Pro740Ser					DSC3_ENST00000360428.4_Missense_Mutation_p.P740S	p.P740S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		14	2372	-			740					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.2218C>T	CCDS32810.1	6	0.0027472527472527475	0	0.0	3	0.008287292817679558	0	0.0	3	0.00395778364116095	G	12.32	1.903980	0.33628	9.08E-4	0.003723	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.57436	0.4;0.42	4.48	4.48	0.54585	.	0.000000	0.32935	N	0.005475	T	0.70081	0.3183	M	0.86420	2.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.78861	-0.2037	10	0.59425	D	0.04	.	17.3066	0.87197	0.0:0.0:1.0:0.0	.	740;740	Q14574;Q14574-2	DSC3_HUMAN;.	S	740	ENSP00000353608:P740S;ENSP00000392068:P740S	ENSP00000353608:P740S	P	-	1	0	DSC3	26835599	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.271000	0.72569	2.479000	0.83701	0.557000	0.71058	CCT		0.308	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		5	65	0	0	0	1	0	5	65				
AKAP4	8852	broad.mit.edu	37	X	49958224	49958224	+	Silent	SNP	G	G	A	rs140947270		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chrX:49958224G>A	ENST00000376056.2	-	5	1263	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	AKAP4_ENST00000376064.3_Silent_p.S371S|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Silent_p.S380S|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4									p.S380S(2)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CAATCAAATCGGACACAATCT	0.463																																						ENST00000376056.2																			2	Substitution - coding silent(2)	p.S380S(2)	large_intestine(1)|endometrium(1)	NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(1111-1113)tcC>tcT		A kinase (PRKA) anchor protein 4		G	,	2,3833		0,1,1,1631,570	70.0	59.0	63.0		1140,1113	-6.4	1.0	X	dbSNP_134	63	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous	AKAP4	NM_003886.2,NM_139289.1	,	0,1,1,4059,2442	AA,AG,A,GG,G		0.0,0.0522,0.0189	,	380/855,371/846	49958224	2,10561	2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49958224G>A	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1113C>T	X.37:g.49958224G>A						AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Silent_p.S380S|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000376064.3_Silent_p.S371S	p.S371S			Q5JQC9	AKAP4_HUMAN			5	1263	-	Ovarian(276;0.236)		380						Silent	SNP	ENST00000376056.2	37	c.1113C>T	CCDS14330.1																																																																																				0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		7	20	0	0	0	1	0	7	20				
CROCCP3	114819	broad.mit.edu	37	1	16809717	16809735	+	RNA	DEL	CCACTGATGTTATGCCCAG	CCACTGATGTTATGCCCAG	-	rs572219709|rs142465067|rs574690778|rs554051454	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:16809717_16809735delCCACTGATGTTATGCCCAG	ENST00000263511.4	-	0	2004					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCATAAGGCTCCACTGATGTTATGCCCAGCCGCCGACTT	0.516														51	0.0101837	0.0	0.0173	5008	,	,		17575	0.0387		0.0	False		,,,				2504	0.0					ENST00000263511.4																			0																																																			0							g.chr1:16809717_16809735delCCACTGATGTTATGCCCAG	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16809717_16809735delCCACTGATGTTATGCCCAG								NR_023386.1						0	2004	-								Q96PW6	RNA	DEL	ENST00000263511.4	37																																																																																						0.516	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		5	2						5	2	---	---	---	---
STEAP2-AS1	100874100	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	-	C	rs58370593	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:89748927_89748928insC	ENST00000478318.2	-	0	424				RP5-1121E10.2_ENST00000471553.1_lincRNA|DPY19L2P4_ENST00000497063.1_RNA					STEAP2 antisense RNA 1																		GGTGCGGGCCTCCCCCTTCCCC	0.639													?|CCCCC|CCCCCC|unsure	3349	0.66873	0.7171	0.621	5008	,	,		14308	0.8095		0.5199	False		,,,				2504	0.6452					ENST00000478318.2																			0																																																			0							g.chr7:89748927_89748928insC			7q21.13	2012-10-12	2012-08-15		ENSG00000227646	ENSG00000227646		"""Long non-coding RNAs"""	40820	non-coding RNA	RNA, long non-coding			"""STEAP2 antisense RNA 1 (non-protein coding)"""				Standard	NR_110029		Approved				OTTHUMG00000065036		7.37:g.89748932_89748932dupC						DPY19L2P4_ENST00000497063.1_RNA|RP5-1121E10.2_ENST00000471553.1_lincRNA								0	424	-									RNA	INS	ENST00000478318.2	37																																																																																						0.639	STEAP2-AS1-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000350909.2			3	4						3	4	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78401085	78401105	+	In_Frame_Del	DEL	CCAAGCTTCTCCTTCTGGTTC	CCAAGCTTCTCCTTCTGGTTC	-			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:78401085_78401105delCCAAGCTTCTCCTTCTGGTTC	ENST00000397909.2	+	8	1940_1960	c.1767_1787delCCAAGCTTCTCCTTCTGGTTC	c.(1765-1788)ggccaagcttctccttctggttcc>ggc	p.QASPSGS590del	NAV3_ENST00000266692.7_In_Frame_Del_p.QASPSGS590del|NAV3_ENST00000536525.2_In_Frame_Del_p.QASPSGS590del|NAV3_ENST00000228327.6_In_Frame_Del_p.QASPSGS590del			Q8IVL0	NAV3_HUMAN	neuron navigator 3	590						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGGAAGCTGGCCAAGCTTCTCCTTCTGGTTCCTGTACCATG	0.534										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(1765-1788)ggc>gg		neuron navigator 3																																				SO:0001651	inframe_deletion	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78401085_78401105delCCAAGCTTCTCCTTCTGGTTC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1767_1787delCCAAGCTTCTCCTTCTGGTTC	12.37:g.78401085_78401105delCCAAGCTTCTCCTTCTGGTTC	ENSP00000381007:p.Gln590_Ser596del	HNSCC(70;0.22)				NAV3_ENST00000228327.6_In_Frame_Del_p.GQASPSGS589del|NAV3_ENST00000266692.7_In_Frame_Del_p.GQASPSGS589del|NAV3_ENST00000536525.2_In_Frame_Del_p.GQASPSGS589del	p.GQASPSGS589del			Q8IVL0	NAV3_HUMAN			8	1940_1960	+			589					Q8NFW7|Q9Y2E7	In_Frame_Del	DEL	ENST00000397909.2	37	c.1767_1787delCCAAGCTTCTCCTTCTGGTTC																																																																																					0.534	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		7	119						7	119	---	---	---	---
RP11-1028N23.4	0	broad.mit.edu	37	12	116030327	116030327	+	lincRNA	DEL	T	T	-			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:116030327delT	ENST00000551940.1	-	0	343																											ctccattttcTTTTTTTTTTT	0.473																																						ENST00000551940.1																			0																																																			0							g.chr12:116030327delT																													12.37:g.116030327delT														0	343	-									RNA	DEL	ENST00000551940.1	37																																																																																						0.473	RP11-1028N23.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000403876.1			2	4						2	4	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18675863	18675866	+	Frame_Shift_Del	DEL	TCTC	TCTC	-	rs377314029		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:18675863_18675866delTCTC	ENST00000395665.4	+	12	2366_2369	c.2145_2148delTCTC	c.(2143-2148)attctcfs	p.IL715fs	FBXW10_ENST00000395667.1_Frame_Shift_Del_p.IL715fs|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000301938.4_Frame_Shift_Del_p.IL662fs|FBXW10_ENST00000308799.4_Frame_Shift_Del_p.IL744fs			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	715										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCATGGAAATTCTCTCTAAGTGTA	0.417																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(2230-2235)atfs		F-box and WD repeat domain containing 10																																				SO:0001589	frameshift_variant	10517							g.chr17:18675863_18675866delTCTC	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2145_2148delTCTC	17.37:g.18675863_18675866delTCTC	ENSP00000379025:p.Ile715fs					FBXW10_ENST00000301938.4_Frame_Shift_Del_p.IL662fs|FBXW10_ENST00000395665.4_Frame_Shift_Del_p.IL715fs|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395667.1_Frame_Shift_Del_p.IL715fs	p.IL744fs			Q5XX13	FBW10_HUMAN			11	2451_2454	+			715					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Frame_Shift_Del	DEL	ENST00000395665.4	37	c.2232_2235delTCTC	CCDS11199.3																																																																																				0.417	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		28	170						28	170	---	---	---	---
EVPL	2125	broad.mit.edu	37	17	74003773	74003775	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:74003773_74003775delTTG	ENST00000301607.3	-	22	5764_5766	c.5511_5513delCAA	c.(5509-5514)aacaag>aag	p.N1837del	EVPL_ENST00000586740.1_In_Frame_Del_p.N1859del|TEN1-CDK3_ENST00000567351.1_RNA	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1837	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GATGCTGCACTTGTTGTCTGTGG	0.611																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5509-5514)aag>aa		envoplakin				0,4264		0,0,2132						0.8	1.0			141	1,8253		0,1,4126	no	coding	EVPL	NM_001988.2		0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12517				SO:0001651	inframe_deletion	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003773_74003775delTTG	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5511_5513delCAA	17.37:g.74003776_74003778delTTG	ENSP00000301607:p.Asn1837del					EVPL_ENST00000586740.1_In_Frame_Del_p.NK1859del	p.NK1837del	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5764_5766	-			1837			Globular 2.		A0AUV5	In_Frame_Del	DEL	ENST00000301607.3	37	c.5511_5513delCAA	CCDS11737.1																																																																																				0.611	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		29	215						29	215	---	---	---	---
