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	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	ref_context	gc_content	COSMIC_n_overlapping_mutations	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_Chromosome	ESP_Position	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	HGNC_AccessionNumbers	HGNC_CCDSIDs	HGNC_Chromosome	HGNC_DateModified	HGNC_DateNameChanged	HGNC_DateSymbolChanged	HGNC_EnsemblGeneID	HGNC_EnsemblIDsuppliedbyEnsembl	HGNC_Genefamilydescription	HGNC_HGNCID	HGNC_LocusGroup	HGNC_LocusType	HGNC_NameSynonyms	HGNC_OMIMIDsuppliedbyNCBI	HGNC_PreviousNames	HGNC_PreviousSymbols	HGNC_PubmedIDs	HGNC_RecordType	HGNC_RefSeqsuppliedbyNCBI	HGNC_Status	HGNC_Synonyms	HGNC_UCSCIDsuppliedbyUCSC	HGNC_UniProtIDsuppliedbyUniProt	HGNC_VEGAIDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	UniProt_alt_uniprot_accessions	annotation_transcript	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	init_n_lod	init_t_lod	isArtifactMode	n_alt_count	n_ref_count	oxoGCut	pox	pox_cutoff	qox	refseq_mrna_id	t_alt_count	t_lod_fstar	t_ref_count	tumor_f
KANK3	256949	broad.mit.edu	hg19	19	8389559	8389559	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr19:8389559C>T	ENST00000330915.3	-	9	2303	c.2238G>A	c.(2236-2238)cgG>cgA	p.R746R	KANK3_ENST00000593649.1_Silent_p.R746R	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	746					breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9					TGAGCAGCAGCCGCACGGTGT	0.637	0	58.0	54.0	55.0	19	8389559	2203	4300	6503	SO:0001819	synonymous_variant	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994	"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47	17996375, 19554261	Standard	NM_198471	Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000330915.3:c.2238G>A	19.37:g.8389559C>T		Q6NZI1|Q6ZQR3|Q8IUV2	ENST00000330915.3	37	CCDS12199.1																																																																																			KANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461378.1		75.632876	0	-4	71	0	0	1	0	NM_198471	26	77.072878	48	0.351351
ALOX15	246	broad.mit.edu	hg19	17	4536775	4536775	+	Silent	SNP	T	T	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr17:4536775T>A	ENST00000570836.1	-	10	1278	c.1182A>T	c.(1180-1182)cgA>cgT	p.R394R	ALOX15_ENST00000574640.1_Silent_p.R355R|ALOX15_ENST00000545513.1_Silent_p.R416R|ALOX15_ENST00000293761.3_Silent_p.R394R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	394	Lipoxygenase.	inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	CCAGGGTGTATCGCAGGTGGG	0.537	0	71.0	72.0	72.0	17	4536775	2203	4300	6503	SO:0001819	synonymous_variant	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392			1570320	Standard	NM_001140	Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1182A>T	17.37:g.4536775T>A		A8K2P4|B7ZA11|Q8N6R7|Q99657	ENST00000570836.1	37	CCDS11049.1																																																																																			ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2		78.173666	0	-3	91	0	0	1	0		31	83.684532	84	0.269565
PPID	5481	broad.mit.edu	hg19	4	159638314	159638314	+	Silent	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr4:159638314G>A	ENST00000307720.3	-	4	479	c.372C>T	c.(370-372)ggC>ggT	p.G124G		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	124	PPIase cyclophilin-type.	protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)	TTGTGTTGCGGCCTGCATTTG	0.393	0	117.0	116.0	116.0	4	159638314	2203	4300	6503	SO:0001819	synonymous_variant		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497	"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""		8509368	Standard	NM_005038	Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.372C>T	4.37:g.159638314G>A		B2R9V2	ENST00000307720.3	37	CCDS3801.1																																																																																			PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1		73.922387	0	-13	57	0	0	1	0	NM_005038	26	75.967899	53	0.329114
PYCR2	29920	broad.mit.edu	hg19	1	226108959	226108959	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr1:226108959C>T	ENST00000343818.6	-	6	894	c.746G>A	c.(745-747)gGc>gAc	p.G249D	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Missense_Mutation_p.G175D	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	249		proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity	kidney(1)|lung(3)	4	Breast(184;0.197)				AGAGCGGAAGCCCCCACTCTC	0.592	0	58.0	61.0	60.0	1	226108959	2203	4300	6503	SO:0001583	missense	AF151351	CCDS31043.1, CCDS73039.1	1q42.13	2008-02-05			ENSG00000143811	ENSG00000143811		30262	protein-coding gene	gene with protein product					12477932	Standard	NM_013328	Approved	P5CR2	uc001hpq.4	Q96C36	OTTHUMG00000037506	ENST00000343818.6:c.746G>A	1.37:g.226108959C>T	ENSP00000342502:p.Gly249Asp	A8K798|Q7Z515|Q9Y5J4	ENST00000343818.6	37	CCDS31043.1	.	.	.	.	.	.	.	.	.	.	c	24.8	4.572638	0.86542	.	.	ENSG00000255835;ENSG00000143811;ENSG00000143811	ENST00000432920;ENST00000343818;ENST00000316940	D;D	0.85556	-2.0;-2.0	5.34	5.34	0.76211	6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	M	0.66506	2.035	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.995;1.0;1.0	D	0.92126	0.5708	10	0.87932	D	0	0.0408	16.8847	0.86072	0.0:1.0:0.0:0.0	.	175;249;248	E7EUD8;Q96C36;E7EUS9	.;P5CR2_HUMAN;.	D	175;249;248	ENSP00000414068:G175D;ENSP00000342502:G249D	ENSP00000321781:G248D	G	-	2	0	PYCR2;RP4-559A3.7	224175582	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.015000	0.70791	2.652000	0.90054	0.561000	0.74099	GGC	PYCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091314.1		68.014686	0	5	46	0	0	1	0	NM_013328	23	68.019485	24	0.489362
PALM2-AKAP2	0	broad.mit.edu	hg19	9	112899621	112899621	+	Silent	SNP	G	G	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:112899621G>T	ENST00000374530.3	+	8	1977	c.1797G>T	c.(1795-1797)ctG>ctT	p.L599L	AKAP2_ENST00000555236.1_Silent_p.L599L|AKAP2_ENST00000510514.5_Silent_p.L599L|AKAP2_ENST00000374525.1_Silent_p.L457L|PALM2-AKAP2_ENST00000302798.7_Silent_p.L599L|AKAP2_ENST00000434623.2_Silent_p.L457L|AKAP2_ENST00000259318.7_Silent_p.L368L	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		368				enzyme binding	breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44					ACAAGCCACTGACTAATCCGA	0.602	0	57.0	62.0	60.0	9	112899621	2203	4300	6503	SO:0001819	synonymous_variant	AB023137	CCDS35100.1, CCDS35101.1	9q31.3	2010-02-17			ENSG00000157654	ENSG00000157654		33529	other	readthrough					11478809	Standard	NM_147150	Approved		uc004bej.4		OTTHUMG00000156812	ENST00000374530.3:c.1797G>T	9.37:g.112899621G>T			ENST00000374530.3	37	CCDS35100.1																																																																																			PALM2-AKAP2-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000053603.1		66.377202	1	-18	66	0	2.41591e-17	1	2.60664e-17		24	67.905026	46	0.342857
PLA1A	51365	broad.mit.edu	hg19	3	119347699	119347699	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr3:119347699C>T	ENST00000273371.4	+	10	1345	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S	PLA1A_ENST00000495992.1_Missense_Mutation_p.P409S|PLA1A_ENST00000488919.1_Missense_Mutation_p.P252S|PLA1A_ENST00000494440.1_Missense_Mutation_p.P409S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	425	Involved in the recognition of diacyl- phospholipids.	lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30					TGCCCTTTTGCCTGTCAATGA	0.453	0	111.0	109.0	110.0	3	119347699	2203	4300	6503	SO:0001583	missense	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837		17661	protein-coding gene	gene with protein product		607460			10196188	Standard	NM_015900	Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000488919.1:c.754C>T	3.37:g.119347699C>T	ENSP00000420625:p.Pro252Ser	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	ENST00000488919.1	37	CCDS56269.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887762	0.52014	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.95412	-3.16;-3.7;-3.06;-3.22	5.39	5.39	0.77823	.	0.123692	0.56097	D	0.000037	D	0.95790	0.8630	L	0.36672	1.1	0.42046	D	0.991091	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.93881	0.7171	10	0.17369	T	0.5	-20.3177	16.0768	0.80974	0.0:1.0:0.0:0.0	.	409;425	Q53H76-3;Q53H76	.;PLA1A_HUMAN	S	425;252;409;409	ENSP00000273371:P425S;ENSP00000420625:P252S;ENSP00000417326:P409S;ENSP00000418793:P409S	ENSP00000273371:P425S	P	+	1	0	PLA1A	120830389	1.000000	0.71417	0.883000	0.34634	0.172000	0.22775	4.300000	0.59079	2.521000	0.84997	0.561000	0.74099	CCT	PLA1A-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355253.2		-22.969600	0	1	131	0	0	1	0		4	7.501847	123	0.031496
ATF7IP2	80063	broad.mit.edu	hg19	16	10524545	10524545	+	Missense_Mutation	SNP	G	G	A	rs150059548	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr16:10524545G>A	ENST00000396560.2	+	3	295	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R23Q|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	23		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		large_intestine(3)	3					CTAAGTTGCCGGAAGCAAGTA	0.393	0	79.0	75.0	76.0	16	10524545	2197	4300	6497	SO:0001583	missense	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669		20397	protein-coding gene	gene with protein product		613645				Standard	NM_001256160	Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.68G>A	16.37:g.10524545G>A	ENSP00000379808:p.Arg23Gln	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	ENST00000396560.2	37	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	18.77	3.695430	0.68386	0.0	3.49E-4	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.28069	1.63;1.63	5.25	3.23	0.37069	.	0.323367	0.22643	N	0.057428	T	0.25344	0.0616	L	0.34521	1.04	0.25980	N	0.98238	D;D	0.61697	0.975;0.99	B;P	0.46718	0.427;0.525	T	0.05767	-1.0865	10	0.34782	T	0.22	-4.4003	8.8192	0.35016	0.1836:0.0:0.8164:0.0	.	23;23	Q5U623-2;Q5U623	.;MCAF2_HUMAN	Q	23	ENSP00000379808:R23Q;ENSP00000348799:R23Q	ENSP00000322811:R23Q	R	+	2	0	ATF7IP2	10432046	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	2.400000	0.44504	1.177000	0.42855	0.467000	0.42956	CGG	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1		-11.241027	0	-16	55	0	0	1	0	NM_024997	3	6.429353	74	0.038961
MYOF	26509	broad.mit.edu	hg19	10	95191210	95191210	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr10:95191210C>T	ENST00000371501.4	-	4	422	c.300G>A	c.(298-300)ccG>ccA	p.P100P	MYOF_ENST00000371502.4_Silent_p.P100P|MYOF_ENST00000371488.3_Silent_p.P100P|MYOF_ENST00000358334.5_Silent_p.P100P|MYOF_ENST00000359263.4_Silent_p.P100P|MYOF_ENST00000371489.1_Silent_p.P100P			Q9NZM1	MYOF_HUMAN	myoferlin	100		blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67					TCAGCTTGTACGGCAGGGATC	0.468	0	91.0	88.0	89.0	10	95191210	1957	4164	6121	SO:0001819	synonymous_variant	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119		3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3	10607832, 10995573, 17702744	Standard	NM_013451	Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.300G>A	10.37:g.95191210C>T		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	ENST00000359263.4	37	CCDS41551.1																																																																																			MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2		85.519608	0	6	50	0	0	1	0	NM_013451	27	85.611763	32	0.457627
TENM2	57451	broad.mit.edu	hg19	5	167689135	167689135	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr5:167689135C>A	ENST00000519204.1	+	28	7400	c.7282C>A	c.(7282-7284)Ctc>Atc	p.L2428I	TENM2_ENST00000518659.1_Missense_Mutation_p.L2549I|TENM2_ENST00000520394.1_Missense_Mutation_p.L2310I|TENM2_ENST00000545108.1_Missense_Mutation_p.L2548I|TENM2_ENST00000403607.2_Missense_Mutation_p.L2373I					teneurin transmembrane protein 2												TACTAAAAAGCTCCACGCCAG	0.507	0	44.0	44.0	44.0	5	167689135	2002	4166	6168	SO:0001583	missense	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934		29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2	10625539	Standard	NM_001122679	Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000520394.1:c.6928C>A	5.37:g.167689135C>A	ENSP00000427874:p.Leu2310Ile	Q9ULU2	ENST00000520394.1	37		.	.	.	.	.	.	.	.	.	.	C	13.77	2.335708	0.41398	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.89875	-2.1;-2.09;-2.2;-2.58;-2.57	5.42	5.42	0.78866	.	0.183165	0.46442	D	0.000300	T	0.72526	0.3471	N	0.02539	-0.55	0.37417	D	0.913466	P;P;B	0.45902	0.868;0.629;0.318	B;B;B	0.38880	0.284;0.247;0.1	T	0.78145	-0.2318	10	0.29301	T	0.29	.	12.5364	0.56144	0.0:0.8801:0.0:0.1199	.	2548;2549;2310	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	I	2549;2548;2428;2310;2373	ENSP00000429430:L2549I;ENSP00000438635:L2548I;ENSP00000428964:L2428I;ENSP00000427874:L2310I;ENSP00000384905:L2373I	ENSP00000384905:L2373I	L	+	1	0	ODZ2	167621713	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.966000	0.40481	2.694000	0.91930	0.655000	0.94253	CTC	TENM2-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000371066.2		-0.205602	1	-8	26	0	1	1	1	NM_001122679	3	6.412703	34	0.081081
ZBTB21	49854	broad.mit.edu	hg19	21	43411430	43411430	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr21:43411430C>T	ENST00000310826.5	-	3	2958	c.2775G>A	c.(2773-2775)gaG>gaA	p.E925E	ZBTB21_ENST00000398499.1_Silent_p.E925E|ZBTB21_ENST00000398505.3_Silent_p.E724E|ZBTB21_ENST00000398511.3_Silent_p.E925E	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21												CCTGGTGACGCTCCAGCTGCT	0.527	0	79.0	74.0	75.0	21	43411430	2203	4300	6503	SO:0001819	synonymous_variant	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276	"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295		Standard	NM_020727	Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000398505.3:c.2172G>A	21.37:g.43411430C>T		Q5R2W1|Q5R2W2|Q6P4R0	ENST00000398505.3	37	CCDS42934.1																																																																																			ZBTB21-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195307.1		65.664890	0	9	66	0	0	1	0	NM_020727	24	68.821898	58	0.292683
GNAQ	2776	broad.mit.edu	hg19	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	G	rs121913492		TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:80409488T>G	ENST00000286548.4	-	5	848	c.626A>C	c.(625-627)cAa>cCa	p.Q209P	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7P	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302					CTCTGACCTTTGGCCCCCTAC	0.348	153	108.0	105.0	106.0	9	80409488	2203	4300	6503	SO:0001583	missense		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052		4390	protein-coding gene	gene with protein product		600998			8825633	Standard	NM_002072	Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>C	9.37:g.80409488T>G	ENSP00000286548:p.Gln209Pro	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.614273	0.87359	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97164	0.9073	H	0.97291	3.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98607	1.0661	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	P	209;7	ENSP00000286548:Q209P;ENSP00000443197:Q7P	ENSP00000286548:Q209P	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		148.835616	0	-29	83	0	0	1	0	NM_002072	43	149.122225	33	0.565789
TNS3	64759	broad.mit.edu	hg19	7	47440411	47440411	+	Missense_Mutation	SNP	C	C	G			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr7:47440411C>G	ENST00000398879.1	-	14	1190	c.824G>C	c.(823-825)gGg>gCg	p.G275A	TNS3_ENST00000355730.3_Intron|TNS3_ENST00000311160.9_Missense_Mutation_p.G275A			Q68CZ2	TENS3_HUMAN	tensin 3	275	C2 tensin-type.		focal adhesion	protein binding	NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64					ATCCTCCTTCCCAAACACCAG	0.582	0	77.0	94.0	89.0	7	47440411	2066	4206	6272	SO:0001583	missense	AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205	"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1	11559528	Standard	NM_022748	Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.824G>C	7.37:g.47440411C>G	ENSP00000381854:p.Gly275Ala	B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	ENST00000398879.1	37	CCDS5506.2	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696714	0.48202	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000457718;ENST00000450444	D;D;D;D	0.85339	-1.97;-1.97;-1.97;-1.97	4.99	4.1	0.47936	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.273612	0.35677	N	0.003060	T	0.78972	0.4368	L	0.55834	1.745	0.80722	D	1	B	0.15719	0.014	B	0.16289	0.015	T	0.69859	-0.5031	10	0.06236	T	0.91	-15.2264	13.0126	0.58739	0.0:0.8269:0.1731:0.0	.	275	Q68CZ2	TENS3_HUMAN	A	275;385;275;378;364	ENSP00000312143:G275A;ENSP00000381854:G275A;ENSP00000414358:G378A;ENSP00000396914:G364A	ENSP00000312143:G275A	G	-	2	0	TNS3	47406936	0.865000	0.29922	0.532000	0.27989	0.970000	0.65996	1.607000	0.36836	1.106000	0.41623	0.456000	0.33151	GGG	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157253.1		26.495752	0	-6	49	0	0	1	0	NM_022748	11	30.496874	41	0.211538
NECAP1	25977	broad.mit.edu	hg19	12	8248277	8248277	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr12:8248277G>A	ENST00000339754.5	+	7	835	c.757G>A	c.(757-759)Gga>Aga	p.G253R		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	253		endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)	TGACTTGTGGGGAGACTTCAG	0.428	0	106.0	99.0	101.0	12	8248277	2203	4300	6503	SO:0001583	missense	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818		24539	protein-coding gene	gene with protein product		611623			14555962, 15494011	Standard	NM_015509	Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.757G>A	12.37:g.8248277G>A	ENSP00000341737:p.Gly253Arg	Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	ENST00000339754.5	37	CCDS8589.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303159	0.81136	.	.	ENSG00000089818	ENST00000545179;ENST00000339754;ENST00000540291;ENST00000540083	T;T	0.50277	1.09;0.75	4.21	4.21	0.49690	.	0.000000	0.85682	D	0.000000	T	0.66848	0.2831	M	0.78049	2.395	0.49798	D	0.999829	D	0.76494	0.999	D	0.74674	0.984	T	0.71397	-0.4605	10	0.87932	D	0	.	12.2748	0.54728	0.0:0.0:1.0:0.0	.	253	Q8NC96	NECP1_HUMAN	R	253;253;111;111	ENSP00000341737:G253R;ENSP00000439319:G111R	ENSP00000341737:G253R	G	+	1	0	NECAP1	8139544	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.809000	0.86057	2.330000	0.79161	0.585000	0.79938	GGA	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1		129.618408	0	4	96	0	0	1	0	NM_015509	42	131.353978	72	0.368421
COL14A1	7373	broad.mit.edu	hg19	8	121216019	121216019	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr8:121216019G>A	ENST00000297848.3	+	9	1219	c.949G>A	c.(949-951)Gtt>Att	p.V317I	COL14A1_ENST00000247781.3_Missense_Mutation_p.V222I|COL14A1_ENST00000309791.4_Missense_Mutation_p.V317I|COL14A1_ENST00000537875.1_Missense_Mutation_p.V317I|COL14A1_ENST00000432943.2_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	317	VWFA 1.	cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		TGTGTACAATGTTGCCGAATT	0.463	0	137.0	117.0	124.0	8	121216019	2203	4300	6503	SO:0001583	missense		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955	"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND	1716629, 9427527	Standard	NM_021110	Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.949G>A	8.37:g.121216019G>A	ENSP00000297848:p.Val317Ile		ENST00000297848.3	37	CCDS34938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.371678|4.371678	0.82573|0.82573	.|.	.|.	ENSG00000187955|ENSG00000187955	ENST00000523142|ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.|T;T;T;T;D	.|0.84070	.|-1.27;-1.27;-1.27;0.39;-1.8	5.32|5.32	5.32|5.32	0.75619|0.75619	.|von Willebrand factor, type A (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84633|0.84633	0.5515|0.5515	M|M	0.75150|0.75150	2.29|2.29	0.54753|0.54753	D|D	0.999989|0.999989	.|P	.|0.39044	.|0.656	.|B	.|0.41332	.|0.354	T|T	0.82544|0.82544	-0.0404|-0.0404	5|10	.|0.25751	.|T	.|0.34	.|.	19.1925|19.1925	0.93672|0.93672	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|317	.|Q05707	.|COEA1_HUMAN	Y|I	73|317;317;317;222;130	.|ENSP00000443974:V317I;ENSP00000311809:V317I;ENSP00000297848:V317I;ENSP00000247781:V222I;ENSP00000409461:V130I	.|ENSP00000247781:V222I	C|V	+|+	2|1	0|0	COL14A1|COL14A1	121285200|121285200	1.000000|1.000000	0.71417|0.71417	0.476000|0.476000	0.27291|0.27291	0.348000|0.348000	0.29142|0.29142	9.640000|9.640000	0.98453|0.98453	2.767000|2.767000	0.95098|0.95098	0.655000|0.655000	0.94253|0.94253	TGT|GTT	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2		27.967615	0	-7	29	0	0	1	0	NM_021110	12	32.585343	46	0.206897
ARHGAP4	393	broad.mit.edu	hg19	X	153175798	153175798	+	Silent	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chrX:153175798C>T	ENST00000370028.3	-	18	2160	c.2103G>A	c.(2101-2103)ggG>ggA	p.G701G	ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000393721.1_Silent_p.G483G|ARHGAP4_ENST00000350060.5_Silent_p.G661G|ARHGAP4_ENST00000370016.1_Silent_p.G640G|ARHGAP4_ENST00000537206.1_Silent_p.G638G	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	661		apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				GCAGCGTGGGCCCGAAGCACA	0.672	0	21.0	22.0	21.0	X	153175798	2203	4298	6501	SO:0001819	synonymous_variant	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820	"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023			8570618	Standard	NM_001666	Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000370028.3:c.2103G>A	X.37:g.153175798C>T		Q14144|Q86UY3	ENST00000370028.3	37	CCDS55540.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642969	0.14451	.	.	ENSG00000089820	ENST00000442172	T	0.14391	2.51	4.68	3.8	0.43715	.	0.000000	0.41712	D	0.000835	T	0.19525	0.0469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.01869	-1.1257	7	0.87932	D	0	.	3.8697	0.09031	0.0:0.5829:0.2064:0.2107	.	.	.	.	D	150	ENSP00000408656:G150D	ENSP00000408656:G150D	G	-	2	0	ARHGAP4	152828992	0.997000	0.39634	0.975000	0.42487	0.534000	0.34807	0.428000	0.21395	1.918000	0.55548	0.592000	0.82586	GGC	ARHGAP4-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000061117.1		71.523974	0	-24	35	0	0	1	0	NM_001666	23	71.528555	24	0.489362
SERPIND1	3053	broad.mit.edu	hg19	22	21134429	21134429	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr22:21134429G>C	ENST00000215727.5	+	2	1112	c.829G>C	c.(829-831)Gct>Cct	p.A277P	PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.A277P	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	277		blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		CATAAAAGATGCTCTGGAGAA	0.453	0	188.0	194.0	192.0	22	21134429	2203	4300	6503	SO:0001583	missense	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937	"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2	1671335, 24172014	Standard	XM_005261597	Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.829G>C	22.37:g.21134429G>C	ENSP00000215727:p.Ala277Pro	B2RAI1|D3DX34|Q6IBZ5	ENST00000215727.5	37	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212926	0.79352	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.84660	-1.88;-1.88	5.97	5.97	0.96955	Serpin domain (3);	0.048266	0.85682	D	0.000000	T	0.78027	0.4219	N	0.16903	0.455	0.58432	D	0.999997	B;B	0.19200	0.034;0.034	B;B	0.18263	0.021;0.021	T	0.69935	-0.5010	10	0.33940	T	0.23	.	20.428	0.99075	0.0:0.0:1.0:0.0	.	277;277	Q8IVC0;P05546	.;HEP2_HUMAN	P	277	ENSP00000215727:A277P;ENSP00000384050:A277P	ENSP00000215727:A277P	A	+	1	0	SERPIND1	19464429	1.000000	0.71417	0.132000	0.22025	0.996000	0.88848	5.161000	0.64935	2.837000	0.97791	0.655000	0.94253	GCT	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1		472.313193	0	-18	271	0	0	1	0	NM_000185	143	472.349616	150	0.488055
CDH4	1002	broad.mit.edu	hg19	20	60511888	60511888	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr20:60511888G>A	ENST00000360469.5	+	16	2726	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I	CDH4_ENST00000543233.1_Missense_Mutation_p.V806I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	880	Ser-rich.	adherens junction organization|cell junction assembly		calcium ion binding	NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		CGCAGGCTCCGTCAGCTCCCT	0.632	1	58.0	50.0	53.0	20	60511888	2203	4300	6503	SO:0001583	missense	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242	"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006			10191097, 10516427	Standard	NM_001794	Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2638G>A	20.37:g.60511888G>A	ENSP00000353656:p.Val880Ile	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564639	0.27915	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.77229	-1.08;-1.08	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	N	0.05592	-0.015	0.58432	D	0.99999	D	0.89917	1.0	D	0.79784	0.993	T	0.77140	-0.2697	9	.	.	.	.	17.1925	0.86883	0.0:0.0:1.0:0.0	.	880	P55283	CADH4_HUMAN	I	880;788;806	ENSP00000353656:V880I;ENSP00000443301:V806I	.	V	+	1	0	CDH4	59945283	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.283000	0.51701	2.068000	0.61886	0.467000	0.42956	GTC	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		1.206997	0	-8	32	0	0	1	0	NM_001794	3	6.510932	29	0.093750
SLFN11	91607	broad.mit.edu	hg19	17	33679640	33679640	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr17:33679640C>T	ENST00000394566.1	-	7	2713	c.2441G>A	c.(2440-2442)aGc>aAc	p.S814N	SLFN11_ENST00000308377.4_Missense_Mutation_p.S814N	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	814			nucleus	ATP binding	autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	TTTTGCGGTGCTGACAAGCAC	0.463	0	126.0	111.0	116.0	17	33679640	2203	4300	6503	SO:0001583	missense	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716		26633	protein-coding gene	gene with protein product		614953			12477932	Standard	NM_001104587	Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.2441G>A	17.37:g.33679640C>T	ENSP00000378067:p.Ser814Asn	E1P643|Q8N3S8|Q8N762|Q8TEE0	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	c	14.50	2.555243	0.45487	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	D;D	0.81908	-1.55;-1.55	4.0	2.99	0.34606	.	0.111999	0.40302	N	0.001126	T	0.76069	0.3936	M	0.66939	2.045	0.09310	N	0.999999	P	0.49862	0.929	B	0.40009	0.316	T	0.65438	-0.6168	10	0.13470	T	0.59	.	8.8634	0.35272	0.2236:0.7764:0.0:0.0	.	814	Q7Z7L1	SLN11_HUMAN	N	814	ENSP00000312402:S814N;ENSP00000378067:S814N	ENSP00000312402:S814N	S	-	2	0	SLFN11	30703753	0.001000	0.12720	0.074000	0.20217	0.023000	0.10783	0.020000	0.13466	0.973000	0.38340	0.655000	0.94253	AGC	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1		65.336116	0	0	60	0	0	1	0	NM_152270	22	65.817938	33	0.400000
SF3B1	23451	broad.mit.edu	hg19	2	198267483	198267483	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr2:198267483C>T	ENST00000335508.6	-	14	1965	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa			nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)		TGTTGTGTTACGGACATACTC	0.438	12	95.0	92.0	93.0	2	198267483	2203	4300	6503	SO:0001583	missense	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524		10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""		9585501	Standard	XM_005246428	Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1874G>A	2.37:g.198267483C>T	ENSP00000335321:p.Arg625His	E9PCH3	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485860	0.96323	.	.	ENSG00000115524	ENST00000335508	T	0.74421	-0.84	5.82	5.82	0.92795	Armadillo-like helical (1);Armadillo-type fold (1);	0.053241	0.64402	D	0.000001	D	0.91369	0.7277	H	0.96333	3.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93329	0.6699	10	0.87932	D	0	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	625	O75533	SF3B1_HUMAN	H	625	ENSP00000335321:R625H	ENSP00000335321:R625H	R	-	2	0	SF3B1	197975728	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.728000	0.84847	2.752000	0.94435	0.655000	0.94253	CGT	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		93.617926	0	10	65	0	0	1	0		31	93.865756	40	0.436620
TGM2	7052	broad.mit.edu	hg19	20	36760851	36760851	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr20:36760851G>A	ENST00000361475.2	-	11	1840	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M	TGM2_ENST00000536701.1_Missense_Mutation_p.T475M|TGM2_ENST00000536724.1_Missense_Mutation_p.T496M	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	556		apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			GTTGGACTCCGTAAGGCAGTC	0.542	0	189.0	189.0	189.0	20	36760851	2203	4300	6503	SO:0001583	missense	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""		7912692, 11390390	Standard	NM_004613	Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1667C>T	20.37:g.36760851G>A	ENSP00000355330:p.Thr556Met	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	ENST00000361475.2	37	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108868	0.37242	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.69435	-0.4;-0.4;-0.4	4.67	3.65	0.41850	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.169666	0.50627	D	0.000105	T	0.80454	0.4626	M	0.77820	2.39	0.53005	D	0.999965	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.82030	-0.0659	10	0.51188	T	0.08	-33.9145	13.7475	0.62883	0.0:0.0:0.8466:0.1534	.	496;475;496;556	F5H6P0;B4DIT7;B4DTN7;P21980	.;.;.;TGM2_HUMAN	M	556;475;496	ENSP00000355330:T556M;ENSP00000444701:T475M;ENSP00000437479:T496M	ENSP00000355330:T556M	T	-	2	0	TGM2	36194265	1.000000	0.71417	0.444000	0.26895	0.017000	0.09413	5.454000	0.66651	2.296000	0.77279	0.561000	0.74099	ACG	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2		-57.321325	0	-25	255	0	0	1	0	NM_198951	4	6.381925	237	0.016598
OR8A1	390275	broad.mit.edu	hg19	11	124440297	124440297	+	Silent	SNP	C	C	T	rs61748716	byFrequency	TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr11:124440297C>T	ENST00000284287.3	+	1	405	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	111		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	TCATCTCCTACGCAGGGTGCA	0.473	1	176.0	155.0	162.0	11	124440297	2201	4299	6500	SO:0001819	synonymous_variant	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119	"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product						Standard	NM_001005194	Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.333C>T	11.37:g.124440297C>T		Q6IEW7|Q96RC6	ENST00000284287.3	37	CCDS31712.1																																																																																			OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1		112.391413	0	-13	62	0	0	1	0	NM_001005194	36	112.708343	47	0.433735
TMEM2	23670	broad.mit.edu	hg19	9	74312944	74312944	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr9:74312944G>A	ENST00000377044.4	-	20	4093	c.3554C>T	c.(3553-3555)cCg>cTg	p.P1185L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P1122L|TMEM2_ENST00000396272.3_Missense_Mutation_p.P178L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1185			integral to membrane		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	GAGCATGGCCGGCATCCGCTT	0.512	0	133.0	103.0	113.0	9	74312944	2203	4300	6503	SO:0001583	missense		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048		11869	protein-coding gene	gene with protein product		605835				Standard	NM_013390	Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3554C>T	9.37:g.74312944G>A	ENSP00000366243:p.Pro1185Leu	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250524	0.80024	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.39592	1.07;1.07;1.07	5.8	4.91	0.64330	.	0.104160	0.64402	D	0.000002	T	0.64649	0.2617	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.71414	0.701;0.973	T	0.70066	-0.4974	10	0.87932	D	0	.	14.402	0.67053	0.0715:0.0:0.9285:0.0	.	1185;1122	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	L	1185;1122;178	ENSP00000366243:P1185L;ENSP00000366266:P1122L;ENSP00000379569:P178L	ENSP00000366243:P1185L	P	-	2	0	TMEM2	73502764	1.000000	0.71417	0.853000	0.33588	0.657000	0.38888	8.660000	0.91121	1.445000	0.47624	0.563000	0.77884	CCG	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2		-5.122604	0	15	82	0	0	1	0	NM_013390	3	6.929319	54	0.052632
OPA3	80207	broad.mit.edu	hg19	19	46056952	46056952	+	Silent	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr19:46056952G>A	ENST00000263275.4	-	2	414	c.360C>T	c.(358-360)aaC>aaT	p.N120N	OPA3_ENST00000544371.1_Silent_p.N67N|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	120		response to stimulus|visual perception	mitochondrion		cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	CCCGCAGCGCGTTCCAGGCAG	0.721	0	13.0	15.0	14.0	19	46056952	2187	4281	6468	SO:0001819	synonymous_variant	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741		8142	protein-coding gene	gene with protein product		606580			9097959, 11668429	Standard	NM_001017989	Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.360C>T	19.37:g.46056952G>A		Q6P384|Q8N784	ENST00000263275.4	37	CCDS12668.1																																																																																			OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1		0.298423	0	-4	20	0	0	1	0		3	6.389830	32	0.085714
APEX2	27301	broad.mit.edu	hg19	X	55033295	55033295	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chrX:55033295C>A	ENST00000374987.3	+	6	1050	c.984C>A	c.(982-984)ttC>ttA	p.F328L		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	328		cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21					GCACCCGCTTCCTCCCTGAGT	0.572	0	54.0	46.0	49.0	X	55033295	2203	4300	6503	SO:0001583	missense	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773			11376153	Standard	NM_014481	Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.984C>A	X.37:g.55033295C>A	ENSP00000364126:p.Phe328Leu	Q9Y5X7	ENST00000374987.3	37	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537810	0.45176	.	.	ENSG00000169188	ENST00000374987	T	0.59906	0.23	4.59	2.8	0.32819	.	0.290985	0.39407	N	0.001375	T	0.45756	0.1358	L	0.57536	1.79	0.34077	D	0.659111	B	0.23316	0.083	B	0.21917	0.037	T	0.45760	-0.9239	10	0.11794	T	0.64	-10.8261	6.791	0.23699	0.0:0.6903:0.0:0.3097	.	328	Q9UBZ4	APEX2_HUMAN	L	328	ENSP00000364126:F328L	ENSP00000364126:F328L	F	+	3	2	APEX2	55050020	1.000000	0.71417	0.955000	0.39395	0.870000	0.49936	0.696000	0.25541	1.029000	0.39812	0.600000	0.82982	TTC	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1		40.006281	1	-12	44	0	3.27435e-08	1	3.44227e-08		15	41.940150	36	0.294118
HAT1	8520	broad.mit.edu	hg19	2	172841177	172841177	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr2:172841177G>A	ENST00000264108.4	+	9	941	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Missense_Mutation_p.R217Q	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	302		chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding	breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)		TGTTTTTCCCGGGAAAAATTA	0.353	0	71.0	70.0	70.0	2	172841177	2203	4300	6503	SO:0001583	missense	AF030424	CCDS2245.1	2q31.2-q33.1	2011-07-01			ENSG00000128708	ENSG00000128708	"""Chromatin-modifying enzymes / K-acetyltransferases"""	4821	protein-coding gene	gene with protein product		603053			9427644	Standard	NM_003642	Approved	KAT1	uc002uhi.3	O14929	OTTHUMG00000132282	ENST00000264108.4:c.905G>A	2.37:g.172841177G>A	ENSP00000264108:p.Arg302Gln	Q49A44|Q53QF0|Q53SU4|Q6P594|Q8WWB9	ENST00000264108.4	37	CCDS2245.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685286	0.29872	.	.	ENSG00000128708	ENST00000392584;ENST00000264108	.	.	.	5.41	3.4	0.38934	Acyl-CoA N-acyltransferase (1);	0.463917	0.24014	N	0.042354	T	0.29256	0.0728	N	0.13098	0.295	0.32053	N	0.596658	B;B	0.17268	0.021;0.012	B;B	0.04013	0.001;0.001	T	0.34601	-0.9822	9	0.87932	D	0	-17.821	9.4959	0.38989	0.0:0.4608:0.4184:0.1209	.	217;302	O14929-2;O14929	.;HAT1_HUMAN	Q	217;302	.	ENSP00000264108:R302Q	R	+	2	0	HAT1	172549423	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.207000	0.32333	1.359000	0.45940	0.655000	0.94253	CGG	HAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255377.1		-2.080570	0	-22	49	0	0	1	0	NM_003642	5	10.634432	63	0.073529
TMEM39A	55254	broad.mit.edu	hg19	3	119156948	119156948	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr3:119156948A>T	ENST00000319172.5	-	6	998	c.578T>A	c.(577-579)tTt>tAt	p.F193Y	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	193			integral to membrane		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)	ATAAACACCAAACCTGTAAAA	0.363	0	36.0	33.0	34.0	3	119156948	2203	4300	6503	SO:0001583	missense	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142		25600	protein-coding gene	gene with protein product					12477932	Standard	NM_018266	Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.578T>A	3.37:g.119156948A>T	ENSP00000326063:p.Phe193Tyr	D3DN80|Q53FN4|Q53GI1|Q6PKB5	ENST00000319172.5	37	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.134210	0.77662	.	.	ENSG00000176142	ENST00000319172;ENST00000491685	T	0.50548	0.74	5.65	5.65	0.86999	.	0.155564	0.64402	D	0.000014	T	0.63896	0.2550	L	0.55743	1.74	0.80722	D	1	D	0.62365	0.991	D	0.71414	0.973	T	0.66143	-0.5997	10	0.66056	D	0.02	-13.6667	15.0573	0.71925	1.0:0.0:0.0:0.0	.	193	Q9NV64	TM39A_HUMAN	Y	193;39	ENSP00000326063:F193Y	ENSP00000326063:F193Y	F	-	2	0	TMEM39A	120639638	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.153000	0.67306	0.528000	0.53228	TTT	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3		44.215847	0	0	33	0	0	1	0	NM_018266	15	44.223122	16	0.483871
CAT	847	broad.mit.edu	hg19	11	34489856	34489856	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr11:34489856G>A	ENST00000241052.4	+	11	1437	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	450		hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity	breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	CTATGTGAACGTGCTGAATGA	0.443	0	136.0	134.0	135.0	11	34489856	2202	4298	6500	SO:0001583	missense	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691		1516	protein-coding gene	gene with protein product		115500				Standard	NM_001752	Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1348G>A	11.37:g.34489856G>A	ENSP00000241052:p.Val450Met	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	ENST00000241052.4	37	CCDS7891.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902776	0.72754	.	.	ENSG00000121691	ENST00000241052	D	0.93019	-3.15	5.59	3.74	0.42951	Catalase domain (1);Catalase-related immune responsive (1);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	M	0.83012	2.62	0.54753	D	0.999985	D	0.69078	0.997	D	0.65874	0.939	D	0.94654	0.7842	10	0.59425	D	0.04	-9.529	8.7832	0.34804	0.235:0.0:0.765:0.0	.	450	P04040	CATA_HUMAN	M	450	ENSP00000241052:V450M	ENSP00000241052:V450M	V	+	1	0	CAT	34446432	1.000000	0.71417	0.004000	0.12327	0.251000	0.25915	6.173000	0.71937	0.732000	0.32470	0.555000	0.69702	GTG	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103197.2		192.715694	0	5	137	0	0	1	0	NM_001752	62	193.632774	87	0.416107
ZNF479	90827	broad.mit.edu	hg19	7	57188369	57188369	+	Silent	SNP	G	G	A			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr7:57188369G>A	ENST00000331162.4	-	5	1023	c.753C>T	c.(751-753)agC>agT	p.S251S		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	251		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)		TTGCAGACCAGCTAAAGGCTT	0.428	0	42.0	43.0	43.0	7	57188369	2097	4241	6338	SO:0001819	synonymous_variant	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177	"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product					11410164	Standard	NM_033273	Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.753C>T	7.37:g.57188369G>A			ENST00000331162.4	37	CCDS43590.1																																																																																			ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1		56.847511	0	2	53	0	0	1	0	XM_291202	18	56.853435	19	0.486486
DSC1	1823	broad.mit.edu	hg19	18	28712574	28712574	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9EZ-01A-11D-A39W-08	TCGA-V4-A9EZ-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62ee7a4a-cdd3-4d9c-9f3d-3e06401c29bd	1c0067ca-af7d-4cb3-9ec4-3f3b4d17d3c8	g.chr18:28712574delT	ENST00000257197.3	-	14	2456	c.2195delA	c.(2194-2196)aatfs	p.N732fs	DSC1_ENST00000257198.5_Frame_Shift_Del_p.N732fs|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	732		homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)		TACAATTAAATTTTGCTGGGC	0.343	0	161.0	156.0	158.0	18	28712574	2202	4299	6501	SO:0001589	frameshift_variant	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765	"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643			8486729	Standard	NM_024421	Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2195delA	18.37:g.28712574delT	ENSP00000257198:p.Asn732fs	Q9HB01	ENST00000257198.5	37	CCDS11894.1																																																																																			DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	.	.		-2	86					NM_004948, NM_024421	30		55	0.35