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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
KIAA0922	23240	broad.mit.edu	37	4	154517429	154517429	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr4:154517429C>A	ENST00000409959.3	+	20	2064	c.2015C>A	c.(2014-2016)tCc>tAc	p.S672Y	KIAA0922_ENST00000440693.1_Missense_Mutation_p.S588Y|KIAA0922_ENST00000409663.3_Missense_Mutation_p.S671Y	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	671						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCTGAGGAATCCAGGTTTGGC	0.413000													30	135					2.2171e-23	2.46345e-23	1	1	0
ASPHD1	253982	broad.mit.edu	37	16	29912482	29912482	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr16:29912482G>A	ENST00000308748.5	+	1	442	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	ASPHD1_ENST00000483405.1_Intron	NM_181718.3	NP_859069.2	Q5U4P2	ASPH1_HUMAN	aspartate beta-hydroxylase domain containing 1	64					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(4)|large_intestine(2)|lung(1)|prostate(1)	8						CTTGGCCAGGGCCTCCCTGAT	0.692000													7	39					0	0	1	0	0
HPX	3263	broad.mit.edu	37	11	6452580	6452580	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr11:6452580G>A	ENST00000265983.3	-	10	1350	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	417					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GGCGGAACATGAGTTAGGGCC	0.542000													18	83					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011469	78011469	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chrX:78011469C>T	ENST00000435339.2	+	2	1508	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	LPAR4_ENST00000373301.2_Missense_Mutation_p.S368F	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	368						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATGCTAGAATCCACCTTTTAG	0.363000													25	66					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921989	78921989	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr15:78921989C>T	ENST00000261751.3	-	5	769	c.658G>A	c.(658-660)Gtg>Atg	p.V220M	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	220					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GTCACGTCCACGTAGCTGGGG	0.567000													36	100					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5303571	5303571	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr5:5303571C>T	ENST00000274181.7	+	19	3118	c.2980C>T	c.(2980-2982)Ccc>Tcc	p.P994S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	994	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGCGCCGGGCCCTGGGCAGA	0.662000													8	15					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121476663	121476663	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr12:121476663G>A	ENST00000257570.5	-	1	382	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	OASL_ENST00000339275.5_Missense_Mutation_p.R38W	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	38				HREWKEEVLDAVR -> TGVEGRGARRCA (in Ref. 2).	interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCACGGTCCGCACAGCGTCT	0.612000													3	27					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141598536	141598536	+	Missense_Mutation	SNP	T	T	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr2:141598536T>A	ENST00000389484.3	-	30	6036	c.5065A>T	c.(5065-5067)Atc>Ttc	p.I1689F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1689					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)		ATTCCATGGATAATTGAGGTT	0.373000										TSP Lung(27;0.18)			11	54					0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128741626	128741626	+	Missense_Mutation	SNP	A	A	C			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr4:128741626A>C	ENST00000296464.3	+	14	2129	c.1718A>C	c.(1717-1719)aAa>aCa	p.K573T	HSPA4L_ENST00000505726.1_Missense_Mutation_p.K547T|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000439123.2_Missense_Mutation_p.K604T|HSPA4L_ENST00000508776.1_Missense_Mutation_p.K573T	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	573					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAGACACTTAAAAAAGGAAAA	0.343000													8	38					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40427927	40427927	+	Silent	SNP	T	T	C			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr4:40427927T>C	ENST00000319592.4	-	6	2278	c.1569A>G	c.(1567-1569)acA>acG	p.T523T	RBM47_ENST00000381795.6_Silent_p.T523T|RBM47_ENST00000295971.7_Silent_p.T592T|RBM47_ENST00000514014.1_Silent_p.T554T|RBM47_ENST00000381793.2_Silent_p.T592T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	592	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGCCTCAGTATGTCTGGTAGA	0.547000													18	69					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107719108	107719108	+	Silent	SNP	T	T	C			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr8:107719108T>C	ENST00000445937.1	+	9	1620	c.1359T>C	c.(1357-1359)ctT>ctC	p.L453L	OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Silent_p.L446L|OXR1_ENST00000517566.2_Silent_p.L453L|OXR1_ENST00000531443.1_Silent_p.L453L|OXR1_ENST00000497705.1_Silent_p.L386L|OXR1_ENST00000442977.2_Silent_p.L454L	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	454					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATTCTTTTCTTCATGAGAATT	0.353000													8	45					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183534839	183534839	+	Splice_Site	SNP	C	C	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr1:183534839C>T	ENST00000413720.1	-	9	1139	c.865_splice	c.e9+1	p.G289_splice	NCF2_ENST00000367535.3_Splice_Site_p.G334_splice|NCF2_ENST00000367536.1_Splice_Site_p.G334_splice|NCF2_ENST00000418089.1_Splice_Site_p.G253_splice	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	334	SH3 1.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GACCACTCACCTGGTGACAGC	0.597000													17	66					0	0	1	0	0
MDM4	4194	broad.mit.edu	37	1	204495542	204495542	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr1:204495542G>A	ENST00000367182.3	+	3	295	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	MDM4_ENST00000367183.3_Intron|MDM4_ENST00000454264.2_Missense_Mutation_p.E45K|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367180.1_Missense_Mutation_p.E45K|MDM4_ENST00000507825.2_Missense_Mutation_p.E45K|MDM4_ENST00000391947.2_Missense_Mutation_p.E45K	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	45	SWIB.				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGCGCAAGGTGAAATGTTCAC	0.358000			A		"""GBM, bladder, retinoblastoma"""								5	43					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027156	37027156	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647000													4	86					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160718246	160718246	+	Silent	SNP	G	G	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr1:160718246G>T	ENST00000368043.3	+	2	355	c.318G>T	c.(316-318)ggG>ggT	p.G106G	SLAMF7_ENST00000441662.2_Silent_p.G106G|SLAMF7_ENST00000359331.4_Silent_p.G106G|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Silent_p.G106G|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000458104.2_Intron	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	106					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTATGTGGGGATATACAGCT	0.507000													8	102					0.00448238	0.00463695	1	1	0
IGLV7-43	28776	broad.mit.edu	37	22	22749737	22749737	+	RNA	SNP	C	C	G			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr22:22749737C>G	ENST00000390298.2	+	0	295																											CAGGCTCCCTCCTTGGGGGCA	0.557000													16	54					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200558389	200558389	+	Missense_Mutation	SNP	C	C	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr1:200558389C>A	ENST00000367350.4	-	18	3508	c.3070G>T	c.(3070-3072)Gtc>Ttc	p.V1024F		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1024	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTTTTGTTGACATATATTTCC	0.318000													9	76					1.76689e-08	1.85989e-08	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803783	142803783	+	RNA	SNP	A	A	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr1:142803783A>T	ENST00000423385.1	-	0	1182																											atagttaacaaagtagctggc	0.403000													5	7					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102260736	102260736	+	Silent	SNP	G	G	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr5:102260736G>A	ENST00000438793.3	+	5	902	c.432G>A	c.(430-432)cgG>cgA	p.R144R	PAM_ENST00000304400.7_Silent_p.R144R|PAM_ENST00000274392.9_Silent_p.R47R|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000455264.2_Silent_p.R144R|PAM_ENST00000346918.2_Silent_p.R144R|PAM_ENST00000348126.2_Silent_p.R144R	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	144	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CCCCTACCCGGCTCCCCAAAG	0.413000													9	80					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57992878	57992878	+	Missense_Mutation	SNP	C	C	G			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr12:57992878C>G	ENST00000354947.5	+	5	560	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.L164V|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.L134V|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.L182V			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	182	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CAACACGCTTCTGCCCCAGTT	0.522000													19	69					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750																											ACAGCTTGACACTTGCCATTG	0.373000													3	41					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	59					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47161670	47161670	+	Splice_Site	SNP	A	A	C			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr3:47161670A>C	ENST00000409792.3	-	3	4497		c.e3+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AATTAGACTTACCTTTCTGTT	0.323000			"""N, F, S, Mis"""		clear cell renal carcinoma								13	30					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94197291	94197291	+	Missense_Mutation	SNP	T	T	C			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr11:94197291T>C	ENST00000323929.3	-	11	1435	c.1213A>G	c.(1213-1215)Aag>Gag	p.K405E	MRE11A_ENST00000323977.3_Missense_Mutation_p.K405E|MRE11A_ENST00000393241.4_Missense_Mutation_p.K405E|MRE11A_ENST00000407439.3_Missense_Mutation_p.K408E	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	405					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTTTTTTCCTTTTGTTCTCTA	0.313000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				15	32					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114224871	114224871	+	Silent	SNP	C	C	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr1:114224871C>T	ENST00000369615.1	+	21	3428	c.3366C>T	c.(3364-3366)ccC>ccT	p.P1122P	MAGI3_ENST00000369617.4_Silent_p.P1147P|MAGI3_ENST00000307546.9_Intron|MAGI3_ENST00000369611.4_Silent_p.P1122P	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	0	PDZ 6.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACGTGAAACCCGAGCAACATT	0.378000													25	77					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84516043	84516043	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr4:84516043A>G	ENST00000395226.2	+	8	1002	c.784A>G	c.(784-786)Atg>Gtg	p.M262V	AGPAT9_ENST00000264409.4_Missense_Mutation_p.M262V	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	262					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TCAGAGAGCTATGGTCAAGGC	0.438000													28	110					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	132092450	132092450	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chrX:132092450C>T	ENST00000370836.2	-	2	596	c.181G>A	c.(181-183)Gga>Aga	p.G61R	HS6ST2_ENST00000521489.1_Missense_Mutation_p.G61R	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	61						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GTGTGGAATCCGTGAGACACA	0.716000													4	20					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72964876	72964876	+	Missense_Mutation	SNP	T	T	G			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr8:72964876T>G	ENST00000262209.4	-	14	1976	c.1769A>C	c.(1768-1770)aAt>aCt	p.N590T	RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	590						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTTCCTCTTATTGTGAAGTGC	0.483000													23	68					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21870212	21870212	+	Silent	SNP	G	G	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr14:21870212G>A	ENST00000399982.2	-	19	4030	c.3966C>T	c.(3964-3966)ggC>ggT	p.G1322G	CHD8_ENST00000557364.1_Silent_p.G1322G|CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Silent_p.G1043G	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1322					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AAAACTTGGAGCCTTCATCAT	0.398000													5	92					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52436883	52436883	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr3:52436883A>G	ENST00000460680.1	-	15	2366	c.1895T>C	c.(1894-1896)cTg>cCg	p.L632P	BAP1_ENST00000296288.5_Missense_Mutation_p.L614P	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	632	Interaction with BRCA1.				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E631_A634del(1)|p.E631fs*3(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGTGCCAGCAGCTCCTGCCA	0.562000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							4	81					0	0	1	0	0
WBP5	51186	broad.mit.edu	37	X	102612727	102612727	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chrX:102612727G>T	ENST00000372661.3	+	3	426	c.115G>T	c.(115-117)Gcc>Tcc	p.A39S	WBP5_ENST00000372656.3_Missense_Mutation_p.A39S	NM_001006612.1|NM_016303.2	NP_001006613.1|NP_057387.1	Q9UHQ7	WPB5_HUMAN	WW domain binding protein 5	39	Glu-rich.									breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1)	8						AGAGGAGGAGGCCAAAGCAAA	0.408000													22	88					3.62473e-10	3.95425e-10	1	1	0
OR10Z1	128368	broad.mit.edu	37	1	158577047	158577047	+	Silent	SNP	T	T	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr1:158577047T>A	ENST00000361284.1	+	1	819	c.819T>A	c.(817-819)ctT>ctA	p.L273L		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGATCAGCTTATTGCCATGA	0.468000													67	263					0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30648376	30648376	+	Translation_Start_Site	SNP	A	A	G			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr3:30648376A>G	ENST00000295754.5	+	1	383	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TGFBR2_ENST00000359013.4_Start_Codon_SNP_p.M1V	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	1					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGGGTCTGCCATGGGTCGGGG	0.721000													3	3					0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48601513	48601513	+	Missense_Mutation	SNP	G	G	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr19:48601513G>T	ENST00000354276.3	-	6	778	c.451C>A	c.(451-453)Ccg>Acg	p.P151T	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.P151T|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.P161T|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.P151T	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	151	PLA2c.		P -> L (in dbSNP:rs11564538).		arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TGAGACTCCGGCAGCTTTGGG	0.522000													19	42					1.33834e-09	1.43393e-09	1	1	0
TMC5	79838	broad.mit.edu	37	16	19490849	19490849	+	Splice_Site	SNP	A	A	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr16:19490849A>T	ENST00000396229.2	+	14	3015	c.2267_splice	c.e14+1	p.R756_splice	TMC5_ENST00000564959.1_Splice_Site_p.R439_splice|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Splice_Site_p.R397_splice|TMC5_ENST00000542583.2_Splice_Site_p.R756_splice|TMC5_ENST00000541464.1_Splice_Site_p.R704_splice|TMC5_ENST00000381414.4_Splice_Site_p.R756_splice|TMC5_ENST00000219821.5_Splice_Site_p.R510_splice	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	756						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GTTTCTGAGGAGGTAAATATT	0.468000													7	103					0	0	1	0	0
CCNK	8812	broad.mit.edu	37	14	99959893	99959893	+	Silent	SNP	C	C	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr14:99959893C>T	ENST00000389879.5	+	3	363	c.240C>T	c.(238-240)cgC>cgT	p.R80R	CCNK_ENST00000555049.1_Silent_p.R80R|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	80					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATTTTCATCGCTTCTATATGT	0.318000													5	29					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192150435	192150435	+	Silent	SNP	T	T	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr1:192150435T>A	ENST00000367460.3	+	4	478	c.297T>A	c.(295-297)gcT>gcA	p.A99A		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	99	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACTAGAGGCTTTTACCAGAT	0.279000													5	48					0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42612118	42612118	+	Silent	SNP	G	G	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr8:42612118G>A	ENST00000276410.2	-	4	682	c.327C>T	c.(325-327)cgC>cgT	p.R109R	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Silent_p.R94R	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	109						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTGCAGGAACGCGAAGAGTCT	0.388000													24	97					0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11891513	11891513	+	Missense_Mutation	SNP	C	C	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr19:11891513C>T	ENST00000357901.4	+	4	976	c.874C>T	c.(874-876)Ctt>Ttt	p.L292F	ZNF441_ENST00000454339.2_Missense_Mutation_p.L225F	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTTTATCATCTTGGAAGCTT	0.403000													7	93					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136062772	136062772	+	Silent	SNP	T	T	C			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr3:136062772T>C	ENST00000383202.2	-	30	3604	c.3348A>G	c.(3346-3348)caA>caG	p.Q1116Q	STAG1_ENST00000434713.2_Silent_p.Q856Q|STAG1_ENST00000536929.1_Silent_p.Q700Q|STAG1_ENST00000236698.5_Silent_p.Q1116Q	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1116					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGGATGTGAGTTGTGGTGCTG	0.488000													17	47					0	0	1	0	0
COMMD5	28991	broad.mit.edu	37	8	146076155	146076155	+	Missense_Mutation	SNP	A	A	G			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr8:146076155A>G	ENST00000450361.2	-	2	990	c.569T>C	c.(568-570)tTt>tCt	p.F190S	COMMD5_ENST00000402718.3_Missense_Mutation_p.F190S|COMMD5_ENST00000305103.3_Missense_Mutation_p.F190S	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	190	COMM.					nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GGGGACCTCAAAGCGGTATGC	0.602000													13	29					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50867254	50867254	+	Silent	SNP	C	C	T			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr12:50867254C>T	ENST00000398473.2	+	14	1714	c.1602C>T	c.(1600-1602)tgC>tgT	p.C534C	LARP4_ENST00000347328.5_Silent_p.C463C|LARP4_ENST00000518444.1_Silent_p.C533C|LARP4_ENST00000293618.8_Silent_p.C463C|LARP4_ENST00000429001.3_Silent_p.C540C	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	534							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGACAGAATGCACTTCTGCCC	0.373000													15	42					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72964856	72964856	+	Missense_Mutation	SNP	G	G	A			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr8:72964856G>A	ENST00000262209.4	-	14	1996	c.1789C>T	c.(1789-1791)Ctt>Ttt	p.L597F	RP11-383H13.1_ENST00000524152.1_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	597						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATGATCGTAAGAACAACCTCC	0.453000													19	69					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52076481	52076481	+	Translation_Start_Site	SNP	C	C	A	rs2305371	by1000genomes	TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr19:52076481C>A	ENST00000262259.2	+	0	257				ZNF175_ENST00000596504.1_De_novo_Start_OutOfFrame|ZNF175_ENST00000545217.1_De_novo_Start_OutOfFrame	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175						response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GACTCTCCGCCGTGTCCCTGG	0.527000													3	38					0.004672	0.00475119	1	1	0
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	RNA	INS	-	-	G	rs140221514		TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728													3	3	---	---	---	---					
EGFR	1956	broad.mit.edu	37	7	55242465	55242479	+	In_Frame_Del	DEL	GGAATTAAGAGAAGC	GGAATTAAGAGAAGC	-	rs121913438		TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr7:55242465_55242479delGGAATTAAGAGAAGC	ENST00000275493.2	+	19	2412_2426	c.2235_2249delGGAATTAAGAGAAGC	c.(2233-2250)aaa>aa	p.KELREA745del	EGFR_ENST00000455089.1_In_Frame_Del_p.KELREA700del|EGFR_ENST00000454757.2_In_Frame_Del_p.KELREA692del|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	745	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E746_A750del(1007)|p.L747_P753>S(123)|p.L747_A750>P(82)|p.L747_T751del(76)|p.E746_S752>V(57)|p.L747_S752del(34)|p.L747_T751>P(21)|p.E746_T751>A(21)|p.L747_E749del(16)|p.E746_E749del(9)|p.L747_T751>S(7)|p.L747_P753>Q(7)|p.K745_E749del(6)|p.E746_T751>V(6)|p.L747S(6)|p.E746_S752>A(6)|p.E746_T751>VA(6)|p.K745_E746insIPVAIK(5)|p.L747_T751>Q(5)|p.E746_T751del(4)|p.E746_T751>I(4)|p.E746_S752>D(4)|p.E746_S752>I(4)|p.K745_E746insVPVAIK(4)|p.E746_A750>IP(3)|p.L747P(3)|p.L747_S752>Q(3)|p.E746K(3)|p.E746_T751>IP(3)|p.E746_T751>VP(3)|p.E746_A750>RP(2)|p.L747_S752>QH(2)|p.E746_S752del(2)|p.A750_E758>P(2)|p.E746_P753>VS(2)|p.E746_A750>QP(2)|p.L747_K754del(2)|p.L747_K754>ST(1)|p.E746_A750>VP(1)|p.A750_K754del(1)|p.L747_P753del(1)|p.E746del(1)|p.L747_K754>N(1)|p.E746_P753>IS(1)|p.E746_T751>L(1)|p.L747_R748>FP(1)|p.E749G(1)|p.L747_T751>A(1)|p.I744_E749>LKR(1)|p.E746_P753>LS(1)|p.E746_T751>Q(1)|p.E746_T751>S(1)|p.E746_P753>VQ(1)|p.E746_A750>DP(1)|p.A750_E758del(1)|p.E746V(1)|p.I744_A750>VK(1)|p.R748I(1)|p.K745_E746insTPVAIK(1)|p.K745_A750del(1)|p.R748K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGCTATCAAGGAATTAAGAGAAGCAACATCTCCG	0.479	E746K(HCC827_LUNG)|E746_A750del(NCIH1650_LUNG)|E746_A750del(PC14_LUNG)|L747_P753>Q(HCC4006_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	73	---	---	---	---					
CREBZF	58487	broad.mit.edu	37	11	85375132	85375144	+	Frame_Shift_Del	DEL	TCCTCCTGCAGTG	TCCTCCTGCAGTG	-	rs71482595		TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr11:85375132_85375144delTCCTCCTGCAGTG	ENST00000527447.1	-	1	1002_1014	c.776_788delCACTGCAGGAGGA	c.(775-789)ggfs	p.ALQEE259fs	CREBZF_ENST00000398294.2_Frame_Shift_Del_p.ALQEE177fs|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	259	Leucine-zipper.				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GTAGCGACTCTCCTCCTGCAGTGCCTGTACGCG	0.648											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	176	---	---	---	---					
TMC5	79838	broad.mit.edu	37	16	19490810	19490840	+	Frame_Shift_Del	DEL	TTCTCTTTAGTCAATTCCTTCCTGGGGGAGT	TTCTCTTTAGTCAATTCCTTCCTGGGGGAGT	-			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr16:19490810_19490840delTTCTCTTTAGTCAATTCCTTCCTGGGGGAGT	ENST00000396229.2	+	14	2976_3006	c.2227_2257delTTCTCTTTAGTCAATTCCTTCCTGGGGGAGT	c.(2227-2259)ttfs	p.FSLVNSFLGEF743fs	TMC5_ENST00000381414.4_Frame_Shift_Del_p.FSLVNSFLGEF743fs|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000219821.5_Frame_Shift_Del_p.FSLVNSFLGEF497fs|TMC5_ENST00000561503.1_Frame_Shift_Del_p.FSLVNSFLGEF384fs|TMC5_ENST00000564959.1_Frame_Shift_Del_p.FSLVNSFLGEF426fs|TMC5_ENST00000542583.2_Frame_Shift_Del_p.FSLVNSFLGEF743fs|TMC5_ENST00000541464.1_Frame_Shift_Del_p.FSLVNSFLGEF691fs	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	743						integral to membrane		p.S744T(1)|p.S498T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGATTTTGTGTTCTCTTTAGTCAATTCCTTCCTGGGGGAGTTTCTGAGGAG	0.485													8	218	---	---	---	---					
SMAD4	4089	broad.mit.edu	37	18	48581285	48581286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr18:48581285_48581286insC	ENST00000342988.3	+	5	1127_1128	c.589_590insC	c.(589-591)cccfs	p.P197fs	SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.P197fs|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.P197fs|SMAD4_ENST00000452201.2_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	197					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GACATACAGCACCCCAGCTCTG	0.485													24	101	---	---	---	---					
CCER2	643669	broad.mit.edu	37	19	39401523	39401523	+	Frame_Shift_Del	DEL	G	G	-			TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chr19:39401523delG	ENST00000571838.1	-	4	390	c.391delC	c.(391-393)acfs	p.H131fs		NM_001243212.1	NP_001230141.1																					tcctcctGGTGGAGCTGGCGA	0.607													2	4	---	---	---	---					
SRPX	8406	broad.mit.edu	37	X	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-	rs72445954		TCGA-97-A4M6-01A-11D-A24P-08	TCGA-97-A4M6-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5dd1e5e-45f0-4aeb-ac0d-ecb6b5bfc6aa	bf3f00fe-80a5-4073-9cec-7cd17e903da5	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)cgc>c	p.LR23del	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.LR23del|SRPX_ENST00000432886.2_In_Frame_Del_p.LR23del|SRPX_ENST00000544439.1_In_Frame_Del_p.LR23del|TM4SF2_ENST00000465127.1_Intron	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	2	---	---	---	---					
