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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KLK4	9622	broad.mit.edu	37	19	51411614	51411614	+	Splice_Site	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:51411614C>T	uc002pua.1	-	4	612	c.612_splice	c.e4+1	p.N204_splice	KLK4_uc002pty.1_Intron|KLK4_uc002ptz.1_Splice_Site|KLK4_uc002pub.1_Splice_Site_p.N109_splice|KLK4_uc002puc.1_Splice_Site|KLK4_uc010eoi.1_3'UTR	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	204	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CCCTCTCTCACGTTGCAGGAG	0.622000														520			47		0	0	0.014410	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983364	12983364	+	Splice_Site	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:12983364C>T	uc003bxt.2	-	2	75	c.66_splice	c.e2-1	p.G22_splice	IQSEC1_uc003bxu.3_Splice_Site|IQSEC1_uc011auw.1_Splice_Site_p.F8_splice	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	22					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGCCCTCGACGCTGCAGAGG	0.672000														49			7		0	0	0.001984	0	0
PCIF1	63935	broad.mit.edu	37	20	44574946	44574946	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:44574946C>T	uc002xqs.3	+	13	1850	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	PCIF1_uc002xqt.3_Silent_p.F92F	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	512						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TCGAGTGCTTCGCCTCACCCC	0.642000														670			48		0	0	0.014410	0	0
ABCG5	64240	broad.mit.edu	37	2	44055164	44055164	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:44055164G>A	uc002rtn.3	-	4	732	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	ABCG5_uc002rtm.3_5'UTR|ABCG5_uc002rto.3_Missense_Mutation_p.R117W|ABCG5_uc002rtp.3_5'UTR	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	198	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				ACCCGGCGCCGCTCACCCGTG	0.597000														133			14		0	0	0.020292	0	0
DPPA4	55211	broad.mit.edu	37	3	109050853	109050853	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:109050853C>T	uc003dxq.4	-	2	259	c.204G>A	c.(202-204)gaG>gaA	p.E68E	DPPA4_uc011bho.2_Silent_p.E68E|DPPA4_uc011bhp.1_Silent_p.E68E	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	68						nucleus	protein binding	p.E68K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGTCAGTGTGCTCTGCCTTTT	0.423000														562			47		0	0	0.014410	0	0
PARVB	29780	broad.mit.edu	37	22	44559756	44559756	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:44559756G>A	uc003bem.3	+	12	1193	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	PARVB_uc003ben.3_Missense_Mutation_p.A322T|PARVB_uc010gzn.3_Missense_Mutation_p.A247T|PARVB_uc003beo.3_Missense_Mutation_p.A285T	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	322	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	p.A355T(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGTGTCCTTCGCCTTTGAGCT	0.627000														321			30		0	0	0.017118	0	0
CADM3	57863	broad.mit.edu	37	1	159169659	159169659	+	Silent	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:159169659G>A	uc001ftl.2	+	7	1250	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R	CADM3_uc001ftk.2_Silent_p.R391R|LOC100131825_uc001ftm.2_Intron	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	357					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R391R(2)|p.V356fs*45(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACTTGATCCGGCACAAAGGTC	0.562000														180			5		0	0	0.014758	0	0
EN1	2019	broad.mit.edu	37	2	119600717	119600717	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:119600717G>A	uc002tlm.3	-	1	1992	c.976C>T	c.(976-978)Cgc>Tgc	p.R326C		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	326					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GTGATGTAGCGGTTTGCCTGG	0.597000														119			11		0	0	0.008291	0	0
PYHIN1	149628	broad.mit.edu	37	1	158908939	158908939	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:158908939C>T	uc001ftb.3	+	3	731	c.481C>T	c.(481-483)Cct>Tct	p.P161S	PYHIN1_uc001fta.4_Missense_Mutation_p.P161S|PYHIN1_uc001ftc.3_Missense_Mutation_p.P152S|PYHIN1_uc001ftd.3_Missense_Mutation_p.P161S|PYHIN1_uc001fte.3_Missense_Mutation_p.P152S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	161					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GCAGACTCGGCCTTCCTGCTC	0.483000														273			45		0	0	0.010771	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678327	65678327	+	Missense_Mutation	SNP	C	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:65678327C>A	uc002aou.1	-	17	3232	c.3022G>T	c.(3022-3024)Ggc>Tgc	p.G1008C	IGDCC4_uc002aot.1_Missense_Mutation_p.G596C	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1008						integral to membrane|plasma membrane		p.G1008C(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTGGGGGGGCCAAGCCGAGCT	0.662000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			9		4.3838e-07	4.52253e-07	0.016723	1	0
DMRT3	58524	broad.mit.edu	37	9	990557	990557	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990557C>T	uc003zgw.1	+	1	1009	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	324					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TACCCCATCTCGTCTTCCAAA	0.557000														336			15		0	0	0.014323	0	0
CRB2	286204	broad.mit.edu	37	9	126133673	126133673	+	Missense_Mutation	SNP	T	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:126133673T>A	uc004bnx.1	+	7	2344	c.2252T>A	c.(2251-2253)cTc>cAc	p.L751H	CRB2_uc004bnw.1_Missense_Mutation_p.L751H	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	751	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGTGGGAGGCTCCTTGCTGCC	0.682000														443			45		0	0	0.010771	0	0
KHDC1	80759	broad.mit.edu	37	6	73919774	73919774	+	RNA	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:73919774C>T	uc011dyl.1	-	7		c.1319G>A						Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 2, mRNA.							integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						GCTGAGGGCACTTGTTCCCAT	0.502000														143			24		0	0	0.018920	0	0
CXXC11	285093	broad.mit.edu	37	2	242814188	242814188	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:242814188G>A	uc010fzu.1	+	1	504	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	161						integral to membrane											CCCAGACCCCGCCTGGAGCGC	0.706000														64			6		0	0	0.001168	0	0
DNAH17	8632	broad.mit.edu	37	17	76455227	76455227	+	Silent	SNP	G	A	A	rs139000751	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:76455227G>A	uc010dhp.2	-	60	9842	c.9717C>T	c.(9715-9717)gcC>gcT	p.A3239A	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCACAGGCCGGCGGCGGCCG	0.652000														810			73		0	0	0.014410	0	0
SCN8A	6334	broad.mit.edu	37	12	52200183	52200183	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:52200183G>A	uc001ryw.3	+	26	5091	c.4913G>A	c.(4912-4914)cGt>cAt	p.R1638H	SCN8A_uc010snl.2_Missense_Mutation_p.R1597H	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1638					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAAGGGATTCGTACCCTGCTC	0.488000														618			13		0	0	0.013537	0	0
GPR133	283383	broad.mit.edu	37	12	131621557	131621557	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621557G>C	uc010tbm.2	+	23	3089	c.2530G>C	c.(2530-2532)Gag>Cag	p.E844Q	GPR133_uc001uit.4_Missense_Mutation_p.E812Q|GPR133_uc009zyo.3_Missense_Mutation_p.E94Q|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	812					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCTGAATTCAGAGGTACGTCC	0.532000														260			13		0	0	0.004656	0	0
PFKFB4	5210	broad.mit.edu	37	3	48587623	48587623	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:48587623G>A	uc003ctv.3	-	1	159	c.142C>T	c.(142-144)Ccc>Tcc	p.P48S	PFKFB4_uc003ctx.3_Missense_Mutation_p.P5S|PFKFB4_uc010hkb.3_Missense_Mutation_p.P48S|PFKFB4_uc003ctw.3_5'UTR|PFKFB4_uc010hkc.3_Missense_Mutation_p.P48S|PFKFB4_uc011bbm.2_Missense_Mutation_p.P37S|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	48	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CCCCTGGCGGGCAGGCCCACC	0.597000														276			5		0	0	0.014758	0	0
DMRT3	58524	broad.mit.edu	37	9	990923	990923	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990923C>T	uc003zgw.1	+	1	1375	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	446					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCATTTGTGTCAAAGCAGTCC	0.527000														392			32		0	0	0.012213	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:33520323C>T	uc002hjd.2	-	0	1090	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	335						integral to membrane		p.R335K(4)									CTCCTCCACCCTCCCTGTCCT	0.557000														269			8		0	0	0.006214	0	0
HOXA7	3204	broad.mit.edu	37	7	27196029	27196029	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:27196029C>T	uc003sys.3	-	0	268	c.136G>A	c.(136-138)Gcc>Acc	p.A46T		NM_006896	NP_008827	P31268	HXA7_HUMAN	Homo sapiens homeobox A7 (HOXA7), mRNA.	46					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding	p.A46P(4)		endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						GAGGCGAAGGCGCCGGCGCCC	0.622000														434			120		0	0	0.014410	0	0
GGA2	23062	broad.mit.edu	37	16	23480293	23480293	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:23480293C>T	uc002dlq.3	-	15	1728	c.1645G>A	c.(1645-1647)Gca>Aca	p.A549T		NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	549	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GAGCTGGATGCCGGCTGCAGC	0.493000														273			5		0	0	0.014758	0	0
DMRT3	58524	broad.mit.edu	37	9	990182	990182	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990182C>T	uc003zgw.1	+	1	634	c.596C>T	c.(595-597)tCc>tTc	p.S199F		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	199					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GAGATAGTGTCCGTGGAGGAA	0.562000														326			27		0	0	0.004656	0	0
MCM10	55388	broad.mit.edu	37	10	13234464	13234464	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:13234464C>T	uc001ima.3	+	12	1772	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	MCM10_uc001imb.3_Silent_p.S547S|MCM10_uc001imc.3_Silent_p.S547S	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	548					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTATGGGGAGCCCAAAACCAG	0.542000														322			29		0	0	0.017118	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A	rs121913529		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				91			15		8.00594e-06	8.10539e-06	0.007413	1	0
GPR113	165082	broad.mit.edu	37	2	26536714	26536714	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:26536714G>A	uc002rhe.4	-	7	1190	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	GPR113_uc010yky.1_Missense_Mutation_p.P328L|GPR113_uc002rhb.1_5'UTR|GPR113_uc010eyk.1_Missense_Mutation_p.P198L|GPR113_uc002rhc.1_5'UTR|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	397					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P198L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCAGCCATCGGGCAGCGCTG	0.597000														241			19		0	0	0.008871	0	0
KIAA1147	57189	broad.mit.edu	37	7	141385395	141385395	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:141385395G>A	uc003vwk.3	-	2	410	c.410C>T	c.(409-411)gCc>gTc	p.A137V		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	137										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GGGCATGTTGGCAAAGCAGGC	0.537000														370			5		0	0	0.001168	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364736	6364736	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:6364736G>A	uc002gdd.4	-	17	2598	c.2447C>T	c.(2446-2448)cCg>cTg	p.P816L	PITPNM3_uc010cln.3_Missense_Mutation_p.P780L|PITPNM3_uc010clm.3_Missense_Mutation_p.P299L|PITPNM3_uc002gdc.4_Missense_Mutation_p.P407L	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	816					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CTGCCGCAGCGGGTCATGCAC	0.637000														535			36		0	0	0.006230	0	0
SORCS3	22986	broad.mit.edu	37	10	106899195	106899195	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:106899195G>A	uc001kyi.1	+	7	1480	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	418						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGTCTTATCGAAGAGAGGCC	0.502000														473			44		0	0	0.014410	0	0
MMP3	4314	broad.mit.edu	37	11	102706890	102706890	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:102706890G>T	uc001phj.1	-	9	1466	c.1401C>A	c.(1399-1401)caC>caA	p.H467Q	LOC100288077_uc001phh.1_Intron	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	467	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TCTTCAAAGTGTGTGTCACTT	0.358000														433			60		9.61844e-40	1.03145e-39	0.014410	1	0
ITGA11	22801	broad.mit.edu	37	15	68612671	68612671	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:68612671G>A	uc010bib.3	-	19	2555	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F	ITGA11_uc002ari.3_Missense_Mutation_p.S823F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	823					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGTGTCGAAGGACAGCGTGTA	0.592000														88			11		0	0	0.010729	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604077	140604077	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:140604077C>T	uc003ljb.3	+	0	1000	c.1000C>T	c.(1000-1002)Cta>Tta	p.L334L		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	334	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGCACCCTTCTAGTTAAAGT	0.408000														418			6		0	0	0.003080	0	0
SDK2	54549	broad.mit.edu	37	17	71382685	71382685	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:71382685A>G	uc010dfm.3	-	30	4397	c.4397T>C	c.(4396-4398)cTg>cCg	p.L1466P	SDK2_uc002jjt.4_Missense_Mutation_p.L625P|SDK2_uc010dfn.2_Missense_Mutation_p.L1145P	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1466	Fibronectin type-III 9.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GAAGGGCTTCAGCCTGTAGGG	0.592000														11			2		0	0	0.004672	0	0
ZNF534	147658	broad.mit.edu	37	19	52942411	52942411	+	Silent	SNP	G	A	A	rs113700997		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:52942411G>A	uc002pzk.3	+	3	1804	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.A566A	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A579A(4)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACACCTTGCGCGACATAGGA	0.443000														48			3		0	0	0.009096	0	0
GFRA2	2675	broad.mit.edu	37	8	21560393	21560393	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:21560393G>A	uc003wzu.1	-	6	1817	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M	GFRA2_uc003wzv.1_Missense_Mutation_p.T276M|GFRA2_uc003wzw.1_Missense_Mutation_p.T248M	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	381						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CAAAGAAGGCGTCTTCTCCAC	0.627000														76			17		0	0	0.004990	0	0
KIAA1109	84162	broad.mit.edu	37	4	123164205	123164205	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:123164205T>G	uc003ieh.3	+	27	4769	c.4724T>G	c.(4723-4725)cTt>cGt	p.L1575R	KIAA1109_uc003iek.2_Missense_Mutation_p.L194R	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1575					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGCATGCAACTTTCAGGATCA	0.308000														412			29		0	0	0.008361	0	0
GPR133	283383	broad.mit.edu	37	12	131621523	131621523	+	Silent	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621523G>A	uc010tbm.2	+	23	3055	c.2496G>A	c.(2494-2496)ctG>ctA	p.L832L	GPR133_uc001uit.4_Silent_p.L800L|GPR133_uc009zyo.3_Silent_p.L82L|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	800					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGGACTGTTCATATTCC	0.527000														282			13		0	0	0.004656	0	0
HEPHL1	341208	broad.mit.edu	37	11	93836096	93836096	+	Silent	SNP	T	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr11:93836096T>C	uc001pep.2	+	14	2749	c.2592T>C	c.(2590-2592)taT>taC	p.Y864Y	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	864	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAAAAACTTATAGATGGAATA	0.328000														197			20		0	0	0.014323	0	0
DMRT3	58524	broad.mit.edu	37	9	990581	990581	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990581C>T	uc003zgw.1	+	1	1033	c.995C>T	c.(994-996)tCa>tTa	p.S332L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	332					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCTGTGGGATCAGCCTTTCGA	0.572000														377			16		0	0	0.018920	0	0
SRGAP3	9901	broad.mit.edu	37	3	9036080	9036080	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:9036080C>T	uc003brf.1	-	18	3031	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	SRGAP3_uc003brg.1_Silent_p.R761R	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	785					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CGCCGTTGTGCCGGCCCTCCC	0.567000			T	RAF1	pilocytic astrocytoma									555			6		0	0	0.001168	0	0
SACS	26278	broad.mit.edu	37	13	23910739	23910739	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr13:23910739G>A	uc001uon.2	-	9	7865	c.7276C>T	c.(7276-7278)Cga>Tga	p.R2426*	SACS_uc001uoo.2_Nonsense_Mutation_p.R2279*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2426					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGATTATTCGTCGGCAAAGC	0.333000														183			51		0	0	0.014410	0	0
GALNS	2588	broad.mit.edu	37	16	88908313	88908313	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:88908313G>A	uc010cid.3	-	3	570	c.329C>T	c.(328-330)gCc>gTc	p.A110V	GALNS_uc002fly.4_Missense_Mutation_p.A104V|GALNS_uc002flz.4_5'UTR			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	104						lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	ACCGTTTCTGGCATGGGCGTT	0.632000														89			3		0	0	0.009096	0	0
C16orf46	123775	broad.mit.edu	37	16	81095234	81095234	+	Silent	SNP	C	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:81095234C>G	uc002fgc.4	-	3	979	c.720G>C	c.(718-720)gtG>gtC	p.V240V	C16orf46_uc010chf.3_Silent_p.V240V|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	240										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CCACATCCAGCACCTTCTCTT	0.473000														803			66		0	0	0.014410	0	0
RPL13AP6	644511	broad.mit.edu	37	10	112696659	112696659	+	Silent	SNP	A	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:112696659A>G	uc010qrh.1	-	0	355	c.333T>C	c.(331-333)ccT>ccC	p.P111P	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.P111P(1)									TCTTGTCGTAAGGCGGTGGGA	0.577000														89			5		0	0	0.003080	0	0
CCNT2	905	broad.mit.edu	37	2	135676393	135676393	+	Splice_Site	SNP	T	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:135676393T>G	uc002tuc.2	+	1	1	c.-32_splice	c.e1-1		LOC100129961_uc010zbe.2_5'Flank|CCNT2_uc010zbf.2_Splice_Site|CCNT2_uc002tub.2_Splice_Site|CCNT2_uc002tud.2_Splice_Site	NM_058241	NP_490595	O60583	CCNT2_HUMAN	Homo sapiens cyclin T2 (CCNT2), transcript variant b, mRNA.						cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		GGGCGGGGGGTGAATGAAGGA	0.677000														57			12		0	0	0.010818	0	0
UBC	7316	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	G	G	rs149119138	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:21731144T>G	uc002gyy.3	+	1	571	c.446T>G	c.(445-447)cTg>cGg	p.L149R				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	301	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.L149R(18)|p.R148S(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCCTGCGTCTGAGAGGTGGT	0.542000														265			5		0	0	0.014758	0	0
CDKL4	344387	broad.mit.edu	37	2	39440588	39440588	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:39440588C>T	uc010fal.2	-	2	316	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_uc002rrm.3_Missense_Mutation_p.V106I	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	106	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGCCATAATACGCTTTTGATC	0.338000														378			20		0	0	0.012319	0	0
GPR21	2844	broad.mit.edu	37	9	125797765	125797765	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:125797765C>T	uc011lzk.2	+	0	920	c.920C>T	c.(919-921)tCc>tTc	p.S307F	RABGAP1_uc004bnl.4_Intron|RABGAP1_uc011lzh.2_Intron|RABGAP1_uc011lzj.2_Intron|GPR21_uc011lzi.2_Non-coding_Transcript	NM_005294	NP_005285	Q99679	GPR21_HUMAN	Homo sapiens G protein-coupled receptor 21 (GPR21), mRNA.	307						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						TATAGTCTCTCCAACAGTGTA	0.473000														327			58		0	0	0.014410	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416268	153416268	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:153416268C>T	uc004fjz.4	+	1	286	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	85					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAAGAAGCTGCGCCACCCGCT	0.562000														333			21		0	0	0.021523	0	0
WDR63	126820	broad.mit.edu	37	1	85561704	85561704	+	Splice_Site	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:85561704G>A	uc001dkt.3	+	11	1454	c.1263_splice	c.e11+1	p.Q421_splice	WDR63_uc009wcl.3_Splice_Site_p.Q382_splice	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	421										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CAATGGGCAGGTACTTAACAG	0.388000														434			25		0	0	0.021523	0	0
C19orf40	91442	broad.mit.edu	37	19	33467438	33467438	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:33467438C>T	uc002nud.4	+	4	616	c.498C>T	c.(496-498)atC>atT	p.I166I		NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	166	RuvA domain 2-like.				DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TGCAGCAGATCCCAGGAGTTG	0.532000								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		583			94		0	0	0.014410	0	0
POLR3B	55703	broad.mit.edu	37	12	106820987	106820987	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:106820987C>T	uc001tlp.3	+	12	1336	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	POLR3B_uc001tlq.3_Missense_Mutation_p.L314F	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	372					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.L372F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTATCTCTTCTTTTTGAAGA	0.274000														80			14		0	0	0.003163	0	0
KIF21A	55605	broad.mit.edu	37	12	39763966	39763966	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:39763966C>T	uc001rly.3	-	1	562	c.142G>A	c.(142-144)Gct>Act	p.A48T	KIF21A_uc001rlx.3_Missense_Mutation_p.A48T|KIF21A_uc001rlz.3_Missense_Mutation_p.A48T|KIF21A_uc010skl.2_Missense_Mutation_p.A48T	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	48	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAAGTAAAAGCCTTATCTTTC	0.393000														409			104		0	0	0.014410	0	0
GPR135	64582	broad.mit.edu	37	14	59930958	59930958	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:59930958C>T	uc010apj.3	-	0	1102	c.987G>A	c.(985-987)acG>acA	p.T329T	GPR135_uc001xed.2_Non-coding_Transcript	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	Homo sapiens G protein-coupled receptor 135 (GPR135), mRNA.	329						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		CGGTGGTGGCCGTGCGCACCT	0.677000														157			8		0	0	0.004482	0	0
SDHAP1	255812	broad.mit.edu	37	3	195717061	195717061	+	Splice_Site	SNP	C	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:195717061C>A	uc011btq.1	-	1	90	c.-539_splice	c.e1+1		SDHAP1_uc003fvx.3_Splice_Site|SDHAP1_uc011btp.1_Splice_Site					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		AGGGACTCACCGCCTTGGCCA	0.791000														25			7		5.18039e-06	5.27752e-06	0.003080	1	0
NPY2R	4887	broad.mit.edu	37	4	156135406	156135406	+	Silent	SNP	G	A	A	rs148709959	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:156135406G>A	uc003ioq.3	+	1	804	c.315G>A	c.(313-315)ccG>ccA	p.P105P	NPY2R_uc003ior.3_Silent_p.P105P|NPY2R_uc021xtm.1_Silent_p.P105P	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	105					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGTGTCTACCGTTCACTCTTA	0.493000														246			21		0	0	0.010504	0	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:56171880A>C	uc002qlu.3	+	4	1286	c.231_splice	c.e4-2	p.I77_splice	U2AF2_uc002qlt.3_Splice_Site_p.I77_splice	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	77					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000														76			10		0	0	0.004656	0	0
GRIA1	2890	broad.mit.edu	37	5	153054198	153054198	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:153054198C>T	uc011dcy.2	+	5	895	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	GRIA1_uc003lva.4_Missense_Mutation_p.R280W|GRIA1_uc003luy.4_Missense_Mutation_p.R280W|GRIA1_uc003luz.4_Missense_Mutation_p.R185W|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R200W|GRIA1_uc011dcx.2_Missense_Mutation_p.R211W|GRIA1_uc011dcz.2_Missense_Mutation_p.R290W|GRIA1_uc010jia.1_Missense_Mutation_p.R260W	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	280					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGACCACACACGGGTGGACTG	0.557000														332			47		0	0	0.011902	0	0
USP7	7874	broad.mit.edu	37	16	9017122	9017122	+	Silent	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:9017122G>A	uc002czl.2	-	2	532	c.333C>T	c.(331-333)caC>caT	p.H111H	USP7_uc010uyk.1_Silent_p.H12H|USP7_uc010uyj.1_Silent_p.H12H|USP7_uc002czk.2_Silent_p.H95H|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	111	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CGCTTTTTTGGTGTGGTCTGT	0.453000														489			6		0	0	0.001984	0	0
PAQR3	152559	broad.mit.edu	37	4	79847745	79847745	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:79847745G>A	uc003hlp.1	-	3	836	c.632C>T	c.(631-633)tCg>tTg	p.S211L	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Non-coding_Transcript|PAQR3_uc003hlq.1_Missense_Mutation_p.S93L	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	211						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						TCCATATCCCGAAACAGAACA	0.443000														476			27		0	0	0.021523	0	0
DMRT3	58524	broad.mit.edu	37	9	990482	990482	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990482C>T	uc003zgw.1	+	1	934	c.896C>T	c.(895-897)tCc>tTc	p.S299F		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	299					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GAGCGAACTTCCGCAGAACCT	0.577000														350			25		0	0	0.006320	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028629	59028629	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:59028629T>G	uc002qtd.3	-	1	704	c.412A>C	c.(412-414)Acc>Ccc	p.T138P	ZBTB45_uc002qtf.3_Missense_Mutation_p.T138P	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	138	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGCACAGGGGTGGGCAGGGGC	0.716000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			5		0	0	0.012213	0	0
EXOG	9941	broad.mit.edu	37	3	38537984	38537984	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:38537984G>T	uc003cih.2	+	0	222	c.126G>T	c.(124-126)caG>caT	p.Q42H	EXOG_uc010hhg.3_Non-coding_Transcript|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR|EXOG_uc011ayq.1_Missense_Mutation_p.Q42H|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR	NM_005107	NP_005098	Q9Y2C4	EXOG_HUMAN	Homo sapiens endo/exonuclease (5'-3'), endonuclease G-like (EXOG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						TCCGGAGTCAGGGCGCTGAGG	0.672000											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		459			7		0.00198382	0.00199606	0.001984	1	0
AHNAK2	113146	broad.mit.edu	37	14	105419058	105419058	+	Silent	SNP	G	A	A	rs149453124	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:105419058G>A	uc010axc.1	-	6	2850	c.2730C>T	c.(2728-2730)gcC>gcT	p.A910A	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A810A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	910						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTTGGGGCCGGCTCCCTCGG	0.617000														880			65		0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141245239	141245239	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:141245239G>A	uc002tvj.1	-	57	10162	c.9190C>T	c.(9190-9192)Cga>Tga	p.R3064*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3064					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTGGGTCGGCTAGAATCG	0.313000										TSP Lung(27;0.18)				330			30		0	0	0.007291	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083353	44083353	+	Missense_Mutation	SNP	A	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:44083353A>T	uc003bdy.2	-	10	1454	c.1140T>A	c.(1138-1140)aaT>aaA	p.N380K	EFCAB6_uc003bdz.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzi.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.N377K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.N380K(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACATACCTATTTCTTTTTG	0.299000														123			22		0	0	0.015359	0	0
SQSTM1	8878	broad.mit.edu	37	5	179248115	179248115	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:179248115C>G	uc003mkw.4	+	0	274	c.179C>G	c.(178-180)cCt>cGt	p.P60R	SQSTM1_uc011dgr.2_Intron|SQSTM1_uc011dgs.2_Intron|SQSTM1_uc003mkx.3_5'Flank	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	60	Interaction with PAWR.|Interaction with PRKCZ and dimerization (By similarity).|OPR.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGCTGCGGCCTGGCGGCTTC	0.801000														10			3		0	0	0.004672	0	0
ATP10A	57194	broad.mit.edu	37	15	25924728	25924728	+	Silent	SNP	G	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:25924728G>T	uc010ayu.3	-	20	4366	c.4260C>A	c.(4258-4260)acC>acA	p.T1420T		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1420					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			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)		TCACCCTGCCGGTGCTGGCAG	0.642000														266			56		6.56871e-35	6.99804e-35	0.014410	1	0
DMRT3	58524	broad.mit.edu	37	9	990814	990814	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990814C>T	uc003zgw.1	+	1	1266	c.1228C>T	c.(1228-1230)Cct>Tct	p.P410S		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	410					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GTATGTCAGTCCTTTCCCCAG	0.582000														179			23		0	0	0.012319	0	0
SYT16	83851	broad.mit.edu	37	14	62541981	62541981	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:62541981G>A	uc001xfu.1	+	2	1062	c.865G>A	c.(865-867)Gag>Aag	p.E289K	SYT16_uc010tsd.1_Missense_Mutation_p.E289K	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	289										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATCTCACCAAGAGTCCAGTGT	0.527000														227			13		0	0	0.013537	0	0
ZC3H4	23211	broad.mit.edu	37	19	47570533	47570533	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:47570533C>T	uc002pga.4	-	14	3030	c.2992G>A	c.(2992-2994)Gtg>Atg	p.V998M	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	998							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCCGCGGGCACGGGGGGCACT	0.741000														450			36		0	0	0.015359	0	0
ZNF208	7757	broad.mit.edu	37	19	22156518	22156518	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:22156518G>T	uc021urr.1	-	3	1467	c.1318C>A	c.(1318-1320)Ctt>Att	p.L440I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTTCCATAAGGTTTGAGGAC	0.378000														392			35		6.90743e-12	7.21737e-12	0.017118	1	0
PF4V1	5197	broad.mit.edu	37	4	74719545	74719545	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:74719545C>T	uc003hhg.1	+	1	213	c.146C>T	c.(145-147)aCc>aTc	p.T49I		NM_002620	NP_002611	P10720	PF4V_HUMAN	Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA.	49					immune response	extracellular region	chemokine activity|heparin binding			endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGTGTGAAGACCACCTCCCAG	0.612000														83			13		0	0	0.013537	0	0
ABCB4	5244	broad.mit.edu	37	7	87035608	87035608	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:87035608G>A	uc003uiv.1	-	25	3579	c.3503C>T	c.(3502-3504)cCc>cTc	p.P1168L	ABCB4_uc003uiw.1_Missense_Mutation_p.P1161L|ABCB4_uc003uix.1_Missense_Mutation_p.P1114L	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1168	ABC transporter 2.		P -> S (in GBD1).		cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ACTTACGTGGGGTAACGTCTC	0.398000														719			9		0	0	0.008291	0	0
TERT	7015	broad.mit.edu	37	5	1294328	1294328	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:1294328C>T	uc003jcb.1	-	1	731	c.673G>A	c.(673-675)Ggg>Agg	p.G225R	TERT_uc003jcc.1_Missense_Mutation_p.G225R|TERT_uc003jca.1_Missense_Mutation_p.G225R|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	225	RNA-interacting domain 1.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCACTGCCCCCGCGCCTCCTC	0.746000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					65			7		0	0	0.003080	0	0
CYP11A1	1583	broad.mit.edu	37	15	74636146	74636146	+	Silent	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:74636146G>A	uc002axt.2	-	3	968	c.813C>T	c.(811-813)gaC>gaT	p.D271D	CYP11A1_uc002axs.2_Silent_p.D113D|CYP11A1_uc010bjm.1_Silent_p.D113D|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Silent_p.D51D	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	271			D -> DGD (in AICSR; complete loss of activity).		C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TGAAAATCACGTCCCATGCAG	0.592000														722			141		0	0	0.014410	0	0
IMPG1	3617	broad.mit.edu	37	6	76751711	76751711	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:76751711C>T	uc003pik.1	-	1	330	c.200G>A	c.(199-201)cGa>cAa	p.R67Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	67					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.R67R(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCTTTTTGTTCGATGCTTTGC	0.363000														459			35		0	0	0.019004	0	0
ADD2	119	broad.mit.edu	37	2	70903959	70903959	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:70903959G>A	uc021vjc.1	-	12	1827	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.A521V|ADD2_uc002sgz.3_Missense_Mutation_p.A521V|ADD2_uc010fdt.2_Missense_Mutation_p.A521V|ADD2_uc002shc.2_Missense_Mutation_p.A521V|ADD2_uc010fdu.2_Missense_Mutation_p.A537V	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	521					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AATGACGCTCGCCAGGAGCTG	0.602000														367			31		0	0	0.012213	0	0
FRMD7	90167	broad.mit.edu	37	X	131212649	131212649	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:131212649T>G	uc004ewn.3	-	11	1574	c.1396A>C	c.(1396-1398)Aaa>Caa	p.K466Q	FRMD7_uc022cdy.1_Missense_Mutation_p.K346Q|FRMD7_uc011muy.2_Missense_Mutation_p.K451Q	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	466					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GGACGCACTTTGCTTGTGAGG	0.438000														855			63		0	0	0.014410	0	0
DMRT3	58524	broad.mit.edu	37	9	990525	990525	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990525C>G	uc003zgw.1	+	1	977	c.939C>G	c.(937-939)atC>atG	p.I313M		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	313					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.I313V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		ATGGGCACATCTTTGAACACA	0.557000														303			11		0	0	0.016522	0	0
RP1L1	94137	broad.mit.edu	37	8	10469289	10469289	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:10469289C>T	uc003wtc.3	-	3	2548	c.2319G>A	c.(2317-2319)ccG>ccA	p.P773P		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	773					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GTATGGGGGCCGGCGAGCATG	0.662000														527			86		0	0	0.014410	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	T	T	rs55749440		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:207787753C>T	uc001hfy.3	+	31	5370	c.5230C>T	c.(5230-5232)Cga>Tga	p.R1744*	CR1_uc001hfx.3_Nonsense_Mutation_p.R2194*|CR1_uc021pij.1_Nonsense_Mutation_p.R1744*	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1744	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423000														184			4		0	0	0.004482	0	0
BMP3	651	broad.mit.edu	37	4	81967430	81967430	+	Silent	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:81967430G>A	uc003hmg.4	+	1	1175	c.855G>A	c.(853-855)cgG>cgA	p.R285R		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	285					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.E284V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCATTGAGCGGAGGAAGAAGC	0.512000														353			32		0	0	0.010818	0	0
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:184104344T>G	uc003fov.3	+	15	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_uc003fow.3_Missense_Mutation_p.V296G|CHRD_uc003fox.3_Missense_Mutation_p.V666G|CHRD_uc003foy.3_Missense_Mutation_p.V296G|CHRD_uc010hyc.3_Missense_Mutation_p.V256G|CHRD_uc011brr.2_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726000														31			7		0	0	0.020292	0	0
LOC646214	646214	broad.mit.edu	37	15	21937331	21937331	+	RNA	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:21937331G>A	uc010tzj.1	-	0		c.3409C>T								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CCAGTGCAACGTCAGTAGCAG	0.348000														453			27		0	0	0.004656	0	0
SALL1	6299	broad.mit.edu	37	16	51173233	51173233	+	Missense_Mutation	SNP	C	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:51173233C>A	uc021tif.1	-	1	2931	c.2609G>T	c.(2608-2610)gGt>gTt	p.G870V	SALL1_uc021tid.1_Missense_Mutation_p.G870V|SALL1_uc021tie.1_Missense_Mutation_p.G967V|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	967					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CAAAGCCCCACCATTCACTGG	0.483000														200			40		5.71845e-15	6.0136e-15	0.005524	1	0
GPC4	2239	broad.mit.edu	37	X	132458560	132458560	+	Silent	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrX:132458560G>A	uc004exc.1	-	2	536	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_uc011mvg.1_Silent_p.F38F	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	108					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294000														392			22		0	0	0.007291	0	0
P4HA1	5033	broad.mit.edu	37	10	74770789	74770789	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:74770789C>T	uc021ptk.1	-	11	1407	c.1375G>A	c.(1375-1377)Gat>Aat	p.D459N	P4HA1_uc010qka.2_Missense_Mutation_p.D459N|P4HA1_uc001jth.3_Missense_Mutation_p.D459N|P4HA1_uc001jtg.3_Missense_Mutation_p.D459N|P4HA1_uc010qkb.2_Missense_Mutation_p.D441N|P4HA1_uc021ptj.1_Missense_Mutation_p.D459N	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	459	Fe2OG dioxygenase.					endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCAGACACATCACTCATCTAT	0.353000														387			30		0	0	0.019004	0	0
KCNN2	3781	broad.mit.edu	37	5	113698895	113698895	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:113698895C>T	uc003kqo.3	+	0	880	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	141						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGCTCATCTTCGGCATGTTCG	0.602000														208			13		0	0	0.013537	0	0
SYT16	83851	broad.mit.edu	37	14	62542083	62542083	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:62542083G>A	uc001xfu.1	+	2	1164	c.967G>A	c.(967-969)Gac>Aac	p.D323N	SYT16_uc010tsd.1_Missense_Mutation_p.D323N	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	323										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTATGCCACTGACAGCTCCTC	0.498000														587			40		0	0	0.006999	0	0
PRKCQ	5588	broad.mit.edu	37	10	6557092	6557092	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:6557092C>T	uc001iji.1	-	0	189	c.105G>A	c.(103-105)tcG>tcA	p.S35S	PRKCQ_uc001ijj.2_Silent_p.S2S|PRKCQ_uc009xim.2_Silent_p.S2S|PRKCQ_uc009xin.2_5'UTR|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	2	C2.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GAAGAAATGGCGACATGGTTG	0.478000														244			21		0	0	0.021523	0	0
SH3TC1	54436	broad.mit.edu	37	4	8214499	8214499	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:8214499C>T	uc003gkv.4	+	3	420	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	SH3TC1_uc003gkw.4_Missense_Mutation_p.R31W|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	107							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCAGACCCTCCGGGGCCAGCT	0.677000														121			14		0	0	0.003163	0	0
PACSIN2	11252	broad.mit.edu	37	22	43272926	43272926	+	Silent	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:43272926G>A	uc010gzg.3	-	8	1341	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	PACSIN2_uc003bdg.4_Silent_p.T373T|PACSIN2_uc003bdf.4_Intron	NM_007229	NP_009160	Q9UNF0	PACN2_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 2 (PACSIN2), transcript variant 2, mRNA.	373					actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				TCTCACTGACGGTGCTGCCCG	0.567000														622			167		0	0	0.014410	0	0
TP53	7157	broad.mit.edu	37	17	7578475	7578475	+	Missense_Mutation	SNP	G	A	A	rs137852790		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:7578475G>A	uc002gim.2	-	4	649	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_uc002gig.1_Missense_Mutation_p.P152L|TP53_uc002gih.3_Missense_Mutation_p.P152L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P20L|TP53_uc010cnf.1_Missense_Mutation_p.P20L|TP53_uc002gii.1_Missense_Mutation_p.P20L|TP53_uc010cni.1_Missense_Mutation_p.P152L|TP53_uc010cnh.1_Missense_Mutation_p.P152L|TP53_uc002gij.2_Missense_Mutation_p.P152L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59L|TP53_uc002gio.2_Missense_Mutation_p.P20L|TP53_uc010vug.2_Missense_Mutation_p.P113L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(129)|p.P151S(66)|p.P151H(27)|p.P152fs*18(23)|p.P152S(22)|p.P152R(14)|p.P151T(14)|p.P151P(12)|p.P152fs*14(10)|p.P151A(9)|p.P152Q(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.T150fs*16(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P153fs*28(5)|p.P152fs*28(4)|p.P59L(2)|p.P151_V173del23(2)|p.P152_P153del(2)|p.P20L(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P152fs*27(2)|p.Q144_G154del11(2)|p.P152A(2)|p.P153fs*16(1)|p.P59R(1)|p.P20R(1)|p.T57fs*16(1)|p.P151del(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGTGCCGGGCGGGGGTGTGGA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				233			45		0	0	0.014410	0	0
ARMC5	79798	broad.mit.edu	37	16	31474214	31474214	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:31474214A>G	uc010vfn.2	+	4	1755	c.1631A>G	c.(1630-1632)cAg>cGg	p.Q544R	ARMC5_uc010vfo.2_Missense_Mutation_p.Q481R|ARMC5_uc002ecc.3_Missense_Mutation_p.Q449R|ARMC5_uc002eca.4_Missense_Mutation_p.Q449R|ARMC5_uc002ecb.2_Missense_Mutation_p.Q449R|ARMC5_uc010vfp.2_Missense_Mutation_p.Q257R	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	449							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAGCGGGCACAGGGTGGAAGC	0.607000														101			3		0	0	0.009096	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904093	21904093	+	RNA	SNP	A	G	G	rs76302591		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:21904093A>G	uc002gza.2	+	0		c.32A>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cacggggtccacaggaacgtc	0.682000														69			4		0	0	0.001984	0	0
AP1G2	8906	broad.mit.edu	37	14	24033838	24033838	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:24033838G>A	uc001wkl.2	-	8	1191	c.854C>T	c.(853-855)gCc>gTc	p.A285V	AP1G2_uc001wkk.3_Missense_Mutation_p.A213V|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Intron|AP1G2_uc001wkp.1_Non-coding_Transcript|AP1G2_uc010tnp.1_Missense_Mutation_p.A285V	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	285					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGCATTTCCGGCATTTCGGCT	0.547000														270			5		0	0	0.001168	0	0
C16orf46	123775	broad.mit.edu	37	16	81095233	81095233	+	Silent	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr16:81095233G>A	uc002fgc.4	-	3	980	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	C16orf46_uc010chf.3_Silent_p.L241L|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	241										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCACATCCAGCACCTTCTCT	0.468000														804			66		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801533	140801533	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:140801533G>A	uc003lkq.2	+	0	997	c.739G>A	c.(739-741)Gta>Ata	p.V247I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.V247I|PCDHGC5_uc003lkp.2_Missense_Mutation_p.V247I	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	246	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACAGTCCGTATATCGCGT	0.502000														580			6		0	0	0.001984	0	0
GPR133	283383	broad.mit.edu	37	12	131621519	131621519	+	Splice_Site	SNP	G	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:131621519G>T	uc010tbm.2	+	24	3050	c.2491_splice	c.e24-1	p.G831_splice	GPR133_uc001uit.4_Splice_Site_p.G799_splice|GPR133_uc009zyo.3_Splice_Site_p.G81_splice|GPR133_uc009zyp.3_Splice_Site	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	799					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTCCCAGGGACTGTTCATA	0.532000														274			13		7.07758e-08	7.34806e-08	0.004656	1	0
SELP	6403	broad.mit.edu	37	1	169586589	169586589	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:169586589C>T	uc001ggi.4	-	2	223	c.158G>A	c.(157-159)tGg>tAg	p.W53*	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Nonsense_Mutation_p.W53*	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	53					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GGAAATATTCCATGAGTATGC	0.413000														610			48		0	0	0.014410	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76028102	76028102	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:76028102G>A	uc003ufb.3	-	4	836	c.488C>T	c.(487-489)aCg>aTg	p.T163M	ZP3_uc003ufc.4_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	163						extracellular region|membrane	scavenger receptor activity	p.T163M(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						TGGGGGCTGCGTTGGCAAGAA	0.507000														756			55		0	0	0.014410	0	0
SPTLC3	55304	broad.mit.edu	37	20	13098235	13098235	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:13098235C>T	uc002wod.1	+	7	1304	c.1015C>T	c.(1015-1017)Cac>Tac	p.H339Y		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	339					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	AGATGAAGCTCACAGTATTGG	0.507000														737			49		0	0	0.014410	0	0
LAMA1	284217	broad.mit.edu	37	18	7036029	7036029	+	Missense_Mutation	SNP	G	A	A	rs148234507	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr18:7036029G>A	uc002knm.3	-	12	1890	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	LAMA1_uc010wzj.2_Missense_Mutation_p.T75M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	599	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGTCTACCGTCTCTACCGG	0.448000														235			22		0	0	0.016522	0	0
SMO	6608	broad.mit.edu	37	7	128850261	128850261	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:128850261G>T	uc003vor.3	+	8	1804	c.1524G>T	c.(1522-1524)gaG>gaT	p.E508D	SMO_uc003vos.3_Missense_Mutation_p.E183D	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	508					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGACTGTGAGATCAAGAATC	0.552000			Mis		skin basal cell						OREG0018305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		378			74		3.31162e-33	3.50515e-33	0.014410	1	0
STAG3L2	442582	broad.mit.edu	37	7	74298939	74298939	+	RNA	SNP	G	C	C	rs142156061	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:74298939G>C	uc011kfj.2	-	7		c.1037C>G						P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.							nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TTTCCCCCACGCCATGCCACC	0.537000														82			3		0	0	0.009096	0	0
DMRT3	58524	broad.mit.edu	37	9	990458	990458	+	Nonsense_Mutation	SNP	C	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990458C>G	uc003zgw.1	+	1	910	c.872C>G	c.(871-873)tCa>tGa	p.S291*		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	291					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGCCGATCCTCAGTCACGGGA	0.582000														368			26		0	0	0.010818	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138103	138103	+	RNA	SNP	T	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chrGL000195.1:138103T>C	uc003won.1	+	0		c.137T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGGGGACGCATAGTTAAGGTG	0.597000														36			5		0	0	0.001168	0	0
TIMD4	91937	broad.mit.edu	37	5	156378788	156378788	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:156378788C>T	uc003lwh.2	-	2	471	c.414G>A	c.(412-414)acG>acA	p.T138T	TIMD4_uc010jii.2_Silent_p.T138T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	138	Thr-rich.					integral to membrane		p.T138T(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTTCTGTGCGTGGTTGTTG	0.493000														819			59		0	0	0.014410	0	0
C17orf59	54785	broad.mit.edu	37	17	8092931	8092931	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:8092931G>C	uc010vut.2	-	0	634	c.528C>G	c.(526-528)tgC>tgG	p.C176W		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.	176										large_intestine(2)|lung(3)|urinary_tract(1)	6						CGGCGCCACCGCACGCCTCGC	0.736000														96			27		0	0	0.004656	0	0
COIL	8161	broad.mit.edu	37	17	55038183	55038183	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:55038183C>G	uc002iuu.3	-	0	229	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697000														30			8		0	0	0.016522	0	0
NAV3	89795	broad.mit.edu	37	12	78513106	78513106	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:78513106A>G	uc001syp.3	+	14	3303	c.3130A>G	c.(3130-3132)Agc>Ggc	p.S1044G	NAV3_uc001syo.3_Missense_Mutation_p.S1044G|NAV3_uc010sub.2_Missense_Mutation_p.S544G|NAV3_uc009zsf.3_Missense_Mutation_p.S52G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1044	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			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						TGCAGGAAAAAGCAGTGGAGA	0.468000										HNSCC(70;0.22)				542			78		0	0	0.014410	0	0
TES	26136	broad.mit.edu	37	7	115891866	115891866	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:115891866C>T	uc003vho.3	+	4	970	c.755C>T	c.(754-756)gCc>gTc	p.A252V	TES_uc011kmy.2_Missense_Mutation_p.A10V|TES_uc003vhp.3_Missense_Mutation_p.A243V|TES_uc022aki.1_Intron|BD495725_uc003vhq.1_5'Flank	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	252	LIM zinc-binding 1.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GCCATCTATGCCGAAAGGGCT	0.463000														580			84		0	0	0.014410	0	0
LOC441666	441666	broad.mit.edu	37	10	42832147	42832147	+	RNA	SNP	G	T	T	rs144592176	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:42832147G>T	uc010qey.2	-	2		c.1828C>A								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		CACAATTGTAGGGTTTCTCTC	0.353000														39			5		1.58986e-06	1.62986e-06	0.008291	1	0
POLRMT	5442	broad.mit.edu	37	19	620015	620015	+	Silent	SNP	G	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:620015G>C	uc002lpf.1	-	11	2885	c.2829C>G	c.(2827-2829)tcC>tcG	p.S943S		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	943	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGTTGACGGAGGCGGCGC	0.697000														46			3		0	0	0.004672	0	0
ACAN	176	broad.mit.edu	37	15	89402162	89402162	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:89402162G>A	uc010upo.1	+	11	6720	c.6346G>A	c.(6346-6348)Gcc>Acc	p.A2116T	ACAN_uc010upp.1_Missense_Mutation_p.A2116T|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2116					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCATCTGCCGCCCCTGAGGC	0.562000														334			5		0	0	0.014758	0	0
SNRPB	6628	broad.mit.edu	37	20	2442419	2442419	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr20:2442419G>A	uc002wfz.1	-	6	869	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C	SNRPB_uc002wga.1_3'UTR|SNRPB_uc010zpv.2_3'UTR|SNRPB_uc002wgb.3_3'UTR	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	236	Repeat-rich region.				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding	p.R236H(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CTTGGTGGGCGCATTCCCGGG	0.547000														393			5		0	0	0.014758	0	0
TTN	7273	broad.mit.edu	37	2	179470381	179470381	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:179470381G>C	uc021vsy.1	-	227	46162	c.45937C>G	c.(45937-45939)Ctt>Gtt	p.L15313V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L9008V|TTN_uc021vta.1_Missense_Mutation_p.L8941V|TTN_uc021vtb.1_Missense_Mutation_p.L8816V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16240							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAGTCAAGTGTGATAGTG	0.438000														307			5		0	0	0.014758	0	0
NOS1	4842	broad.mit.edu	37	12	117662844	117662844	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:117662844C>T	uc001twn.2	-	25	4616	c.3905G>A	c.(3904-3906)cGg>cAg	p.R1302Q	NOS1_uc021ren.1_Missense_Mutation_p.R932Q|NOS1_uc021reo.1_Missense_Mutation_p.R932Q|NOS1_uc001twm.2_Missense_Mutation_p.R1268Q	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1268					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCAAATTGCCGCTGTTGCCA	0.607000														644			62		0	0	0.014410	0	0
SCN5A	6331	broad.mit.edu	37	3	38592495	38592495	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr3:38592495C>T	uc021wvo.1	-	26	5420	c.5368G>A	c.(5368-5370)Gac>Aac	p.D1790N	SCN5A_uc021wvk.1_Missense_Mutation_p.D1757N|SCN5A_uc021wvl.1_Missense_Mutation_p.D1736N|SCN5A_uc021wvm.1_Missense_Mutation_p.D1772N|SCN5A_uc021wvn.1_Missense_Mutation_p.D1789N|SCN5A_uc021wvp.1_Missense_Mutation_p.D1790N|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1602N|SCN5A_uc021wvi.1_Missense_Mutation_p.D1656N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1790			D -> G (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.D1789D(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATATCGAAGTCGTCCTCACTC	0.512000														285			31		0	0	0.007291	0	0
DMRT3	58524	broad.mit.edu	37	9	990980	990980	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr9:990980C>G	uc003zgw.1	+	1	1432	c.1394C>G	c.(1393-1395)tCt>tGt	p.S465C		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	465					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCCTCAGACTCTAGAACACTC	0.512000														563			44		0	0	0.013114	0	0
PLCD3	113026	broad.mit.edu	37	17	43194110	43194110	+	Silent	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:43194110G>A	uc002iib.3	-	7	1416	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	434	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.C434C(3)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GCTCCAGCCCGCAGTGGTTCT	0.647000														270			24		0	0	0.016522	0	0
FILIP1	27145	broad.mit.edu	37	6	76022446	76022446	+	Silent	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:76022446C>T	uc010kbe.3	-	5	3641	c.3111G>A	c.(3109-3111)cgG>cgA	p.R1037R	FILIP1_uc003phy.1_Silent_p.R1034R|FILIP1_uc003phz.3_Silent_p.R935R|FILIP1_uc003pia.3_Silent_p.R1034R|FILIP1_uc003pib.1_Silent_p.R786R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1034										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGAGGATTGTCCGTCCCATGG	0.468000														788			80		0	0	0.014410	0	0
QRICH2	84074	broad.mit.edu	37	17	74289257	74289257	+	Missense_Mutation	SNP	C	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:74289257C>A	uc002jrd.1	-	3	1233	c.1053G>T	c.(1051-1053)ttG>ttT	p.L351F	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	351							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CGACGACAGGCAATGTCAATC	0.483000														415			97		4.08182e-41	4.40621e-41	0.014410	1	0
OR2L2	26246	broad.mit.edu	37	1	248201829	248201829	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:248201829G>A	uc001idw.3	+	0	356	c.260G>A	c.(259-261)gGa>gAa	p.G87E	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y86C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			tttctgtatggaaacaagtct	0.418000														813			73		0	0	0.014410	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767609	77767609	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:77767609G>A	uc003yau.2	+	9	8839	c.8452G>A	c.(8452-8454)Gag>Aag	p.E2818K	ZFHX4_uc003yaw.1_Missense_Mutation_p.E2773K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2773						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCGGAGACGAGGGAAACAC	0.478000										HNSCC(33;0.089)				180			32		0	0	0.012213	0	0
BAI3	577	broad.mit.edu	37	6	69666614	69666614	+	Silent	SNP	A	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:69666614A>C	uc010kak.3	+	6	1714	c.1438A>C	c.(1438-1440)Agg>Cgg	p.R480R	BAI3_uc003pev.4_Silent_p.R480R	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	480	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAGGCGAATAAGGACCTGTCA	0.507000														404			30		0	0	0.008361	0	0
ATP4A	495	broad.mit.edu	37	19	36050067	36050067	+	Silent	SNP	G	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:36050067G>C	uc002oal.1	-	7	1112	c.1083C>G	c.(1081-1083)cgC>cgG	p.R361R	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	361					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TACTGGCCAGGCGCTTGGCTG	0.622000														711			88		0	0	0.014410	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:44083357C>T	uc003bdy.2	-	10	1450	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_uc003bdz.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzi.2_Missense_Mutation_p.R227K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.R376K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000														140			26		0	0	0.013726	0	0
EN1	2019	broad.mit.edu	37	2	119604052	119604052	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:119604052C>T	uc002tlm.3	-	0	1708	c.692G>A	c.(691-693)gGc>gAc	p.G231D		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	231	Poly-Gly.				skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCTCCCCGCGCCGCCTCCACT	0.766000														84			15		0	0	0.004990	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561569	11561569	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:11561569G>A	uc001ash.4	+	1	658	c.520G>A	c.(520-522)Gtc>Atc	p.V174I	PTCHD2_uc001asi.1_Missense_Mutation_p.V174I	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	174					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.V391I(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGCCCCCCGCGTCATCCCCGC	0.682000														126			11		0	0	0.010729	0	0
SYF2	25949	broad.mit.edu	37	1	25555531	25555531	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:25555531delT	uc001bjt.1	-	2	271	c.216delA	c.(214-216)aaafs	p.K72fs	SYF2_uc001bju.1_Intron|SYF2_uc010oeo.1_Frame_Shift_Del_p.K72fs	NM_015484	NP_056299	O95926	SYF2_HUMAN	Homo sapiens SYF2 homolog, RNA splicing factor (S. cerevisiae) (SYF2), transcript variant 1, mRNA.	72						catalytic step 2 spliceosome				kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		CCAAACGAGCTTTTTTGGCTT	0.348													---	657	---	---	7	---					
NBPF10	100132406	broad.mit.edu	37	1	145367736	145367737	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:145367736_145367737insA	uc021oul.1	+	82	10367_10368	c.10332_10333insA	c.(10330-10335)gggaaafs	p.G3444fs	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3444								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aggggaaggggaaaaaaagaag	0.416													---	622	---	---	7	---					
PI4KB	5298	broad.mit.edu	37	1	151265430	151265432	+	In_Frame_Del	DEL	CTC	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr1:151265430_151265432delCTC	uc001exr.3	-	12	3022_3024	c.2383_2385delGAG	c.(2383-2385)gagdel	p.E795del	PI4KB_uc001exs.3_In_Frame_Del_p.E768del|PI4KB_uc001exu.3_In_Frame_Del_p.E768del|PI4KB_uc010pcw.2_In_Frame_Del_p.E451del|PI4KB_uc001ext.3_In_Frame_Del_p.E783del	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	783					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCAGCTGCTCCTCAGTCATG	0.542													---	381	---	---	62	---					
SLC11A1	6556	broad.mit.edu	37	2	219252307	219252307	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr2:219252307delT	uc002vhv.3	+	6	931	c.591delT	c.(589-591)gctfs	p.A197fs	SLC11A1_uc010fvp.1_Frame_Shift_Del_p.A197fs|SLC11A1_uc010fvq.1_Frame_Shift_Del_p.A130fs|SLC11A1_uc010zkc.1_Frame_Shift_Del_p.A130fs|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.3_Frame_Shift_Del_p.A79fs|SLC11A1_uc010fvr.3_5'UTR	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	197					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGAAGCTTTTTTTGGAC	0.448													---	2055	---	---	8	---					
PDGFRA	5156	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:54319248_54319249delAG	uc003gzy.3	+	15	1633_1634	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	PDGFRA_uc003haa.3_Intron|PDGFRA_uc011bzu.2_Frame_Shift_Del_p.R477fs|PDGFRA_uc003gzz.3_Frame_Shift_Del_p.R409fs|PDGFRA_uc003hab.3_Frame_Shift_Del_p.R448fs|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_Frame_Shift_Del_p.P67fs	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|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	p.R487fs*3(2)		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)|Sunitinib(DB01268)	agaACGCACCAGAGAGAGAGAG	0.470			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			---	319	---	---	9	---					
MAML3	55534	broad.mit.edu	37	4	140811064	140811072	+	In_Frame_Del	DEL	TGCTGCTGC	-	-	rs71855026		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:140811064_140811072delTGCTGCTGC	uc021xsg.1	-	1	2270_2278	c.1518_1526delGCAGCAGCA	c.(1516-1527)cagcagcagcaa>caa	p.506_509QQQQ>Q	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	506	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgctgct	0.517													---	401	---	---	9	---					
ANP32C	23520	broad.mit.edu	37	4	165118286	165118288	+	In_Frame_Del	DEL	TCC	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr4:165118286_165118288delTCC	uc011cjk.2	-	0	576_578	c.576_578delGGA	c.(574-579)gaggaa>gaa	p.192_193EE>E	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	192	Asp/Glu-rich (highly acidic).							p.E192E(2)|p.E192*(1)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		ctcttcaccttcctcctcctcct	0.547													---	95	---	---	7	---					
CSNK1G3	1456	broad.mit.edu	37	5	122881495	122881495	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr5:122881495delA	uc003ktm.3	+	1	857	c.138delA	c.(136-138)ggafs	p.G46fs	CSNK1G3_uc003ktl.3_Frame_Shift_Del_p.G46fs|CSNK1G3_uc003ktn.3_Frame_Shift_Del_p.G46fs|CSNK1G3_uc003kto.3_Frame_Shift_Del_p.G46fs|CSNK1G3_uc011cwr.2_Intron|CSNK1G3_uc011cws.2_Intron|CSNK1G3_uc010jda.3_Frame_Shift_Del_p.G46fs	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	46	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363													---	497	---	---	7	---					
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	GGC	GGC			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr6:22570346_22570347insGGC	uc003nds.3	+	0	669_670	c.542_543insGGC	c.(541-543)agg>agGGCg	p.188_189insA		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													---	7	---	---	5	---					
ZMIZ2	83637	broad.mit.edu	37	7	44805118	44805119	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:44805118_44805119insC	uc003tlr.3	+	15	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_uc003tlq.3_Frame_Shift_Ins_p.A670fs|ZMIZ2_uc003tls.3_Frame_Shift_Ins_p.A702fs|ZMIZ2_uc003tlt.3_Frame_Shift_Ins_p.A351fs|ZMIZ2_uc010kyj.3_Frame_Shift_Ins_p.A250fs|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													---	88	---	---	10	---					
PCLO	27445	broad.mit.edu	37	7	82595385	82595385	+	Frame_Shift_Del	DEL	T	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr7:82595385delT	uc003uhx.2	-	3	4008	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1179					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTGGCTTTTTTTCTTC	0.383													---	1670	---	---	8	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr8:22020159_22020161delGTG	uc003xaw.4	+	4	965_967	c.262_264delGTG	c.(262-264)gtgdel	p.V93del	SFTPC_uc003xax.4_In_Frame_Del_p.V44del|SFTPC_uc003xay.4_In_Frame_Del_p.V44del|SFTPC_uc003xaz.3_In_Frame_Del_p.V44del|SFTPC_uc011kza.1_In_Frame_Del_p.V44del|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													---	767	---	---	7	---					
ZNF503	84858	broad.mit.edu	37	10	77161100	77161101	+	In_Frame_Ins	INS	-	CCGCCTCCGCCT	CCGCCTCCGCCT	rs72126859		TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr10:77161100_77161101insCCGCCTCCGCCT	uc001jxg.3	-	0	413_414	c.77_78insAGGCGGAGGCGG	c.(76-78)ggc>ggAGGCGGAGGCGGc	p.26_26G>GGGGG	ZNF503-AS2_uc010qlf.2_5'Flank|ZNF503-AS2_uc010qlg.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	26	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGTCTGCAccgccgcctccgcc	0.713													---	26	---	---	7	---					
GRIN2B	2904	broad.mit.edu	37	12	13768140	13768141	+	Frame_Shift_Ins	INS	-	C	C			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:13768140_13768141insC	uc001rbt.2	-	6	1740_1741	c.1561_1562insG	c.(1561-1563)gagfs	p.E521fs		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	521					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.E521K(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCGACCACCTCCGATCGTTCC	0.500													---	362	---	---	9	---					
TMBIM4	51643	broad.mit.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr12:66531937delA	uc009zqr.3	-	7	737	c.661delT	c.(661-663)tatfs	p.Y221fs	LLPH_uc010ssx.2_Intron|TMBIM4_uc001stc.3_Frame_Shift_Del_p.Y174fs|TMBIM4_uc001std.3_Frame_Shift_Del_p.Y143fs|TMBIM4_uc001stf.3_Frame_Shift_Del_p.L162fs|TMBIM4_uc009zqs.3_Frame_Shift_Del_p.F158fs	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	174						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATCTCACTATAAAAAAAAAAC	0.353													---	195	---	---	7	---					
abParts	0	broad.mit.edu	37	14	106877821	106877826	+	RNA	DEL	CTACTG	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr14:106877821_106877826delCTACTG	uc021ser.1	-	409		c.13099_13104delCAGTAG								Parts of antibodies, mostly variable regions.																		GTAGTAACTACTACTGCTGATGGAGC	0.607													---	422	---	---	12	---					
ATP8B4	79895	broad.mit.edu	37	15	50193367	50193368	+	Frame_Shift_Ins	INS	-	T	T			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr15:50193367_50193368insT	uc001zxu.3	-	20	2352_2353	c.2210_2211insA	c.(2209-2211)aagfs	p.K737fs	ATP8B4_uc010ber.3_Frame_Shift_Ins_p.K610fs|ATP8B4_uc010ufd.2_Frame_Shift_Ins_p.K547fs|ATP8B4_uc010ufe.2_Intron|ATP8B4_uc001zxv.1_Frame_Shift_Ins_p.K35fs	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	737					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGCTGCTGCTTTTTTTCACA	0.361													---	252	---	---	42	---					
GRIN2C	2905	broad.mit.edu	37	17	72839130	72839131	+	In_Frame_Ins	INS	-	GCTCCGGGG	GCTCCGGGG	rs67510083	by1000genomes	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr17:72839130_72839131insGCTCCGGGG	uc002jlt.1	-	12	3301_3302	c.3145_3146insCCCCGGAGC	c.(3145-3147)ctg>cCCCCGGAGCtg	p.1048_1049insPPE	GRIN2C_uc010wrh.1_Non-coding_Transcript	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	1048				E -> EPPE (in Ref. 3; AAI40802).	glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAGGTCCTCCAGCTCCGGGAAG	0.762													---	3	---	---	3	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	-	-	rs141441894	byFrequency	TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr19:43969653_43969655delAGC	uc002owl.1	-	0	177_179	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L	LYPD3_uc002owm.3_In_Frame_Del_p.23_24LL>L	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													---	886	---	---	12	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	-	-			TCGA-FZ-5921-01A-11D-1609-08	TCGA-FZ-5921-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a4c5957-e5a1-4572-a59f-f5fbfc3fac1f	bb5bc26c-759d-45eb-b733-3157252f6716	g.chr22:43525245_43525247delGCT	uc003bdk.3	+	4	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197	NP_001188	Q13323	BIK_HUMAN	Homo sapiens BCL2-interacting killer (apoptosis-inducing) (BIK), mRNA.	144	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													---	397	---	---	7	---					
