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
TNFRSF4	7293	broad.mit.edu	37	1	1147004	1147004	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:1147004C>T	uc001adf.3	-	4	1453	c.855G>A	c.(853-855)ggG>ggA	p.G285G	TNFRSF4_uc001ade.3_Splice_Site_p.G255_splice			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	255					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AACTGCCTCCCCCTGGGGAGG	0.677												
PABPC4	8761	broad.mit.edu	37	1	40030160	40030160	+	Missense_Mutation	SNP	C	C	T	rs139185037		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:40030160C>T	uc001cdl.2	-	9	2286	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PABPC4_uc010oiv.1_Missense_Mutation_p.R463H|PABPC4_uc001cdm.2_Missense_Mutation_p.R463H	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	463					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCCAGATGGCGAAGAGTTGG	0.542												
CASQ1	844	broad.mit.edu	37	1	160162639	160162639	+	Silent	SNP	A	A	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:160162639A>T	uc010pja.2	+	1	584	c.327A>T	c.(325-327)gtA>gtT	p.V109V		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	109						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGGCTGGTAGACTCTGAGA	0.522											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TNFSF18	8995	broad.mit.edu	37	1	173010533	173010533	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:173010533G>A	uc001giu.2	-	2	575	c.574C>T	c.(574-576)Cta>Tta	p.L192L		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	192					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GGATTTGCTAGTAAAATGATA	0.418												
LHX9	56956	broad.mit.edu	37	1	197887088	197887088	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:197887088C>T	uc001guk.1	+	0	572	c.135C>T	c.(133-135)gcC>gcT	p.A45A	LHX9_uc009wzc.1_Non-coding_Transcript|LHX9_uc001gui.1_Silent_p.A36A	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	45					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGACTGAGGCCCGTCTGGCCA	0.662												
NEBL	10529	broad.mit.edu	37	10	21112168	21112168	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:21112168C>T	uc001iqi.3	-	18	2328	c.1931G>A	c.(1930-1932)aGa>aAa	p.R644K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	644					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCTTTAACTCTCTTTAGTTC	0.284												
RBP3	5949	broad.mit.edu	37	10	48390589	48390589	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:48390589C>T	uc001jez.3	-	0	403	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	97	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGGGAGGCTCGGGGGTGCTG	0.627												
ADO	84890	broad.mit.edu	37	10	64564912	64564912	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:64564912C>T	uc001jmg.3	+	0	397	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.	31							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCGGCGCTTCCGATCGCGACG	0.711												
NT5C2	22978	broad.mit.edu	37	10	104934623	104934623	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:104934623G>A	uc001kwo.3	-	2	286	c.93C>T	c.(91-93)gcC>gcT	p.A31A	NT5C2_uc001kwq.3_Silent_p.A31A|NT5C2_uc001kwp.3_Intron	NM_012229	NP_036361	P49902	5NTC_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA.	31					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACCGATGATAGGCTTCTCGAC	0.383												
SLC22A25	387601	broad.mit.edu	37	11	62931319	62931319	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr11:62931319G>C	uc001nwr.1	-	8	1621	c.1621C>G	c.(1621-1623)Cct>Gct	p.P541A	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	541					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTCCTCTGAGGGGCAGCTAGG	0.507												
LRRC32	2615	broad.mit.edu	37	11	76371933	76371933	+	Missense_Mutation	SNP	G	G	A	rs147861179		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr11:76371933G>A	uc001oxq.4	-	2	947	c.704C>T	c.(703-705)aCg>aTg	p.T235M	LRRC32_uc001oxr.4_Missense_Mutation_p.T235M|LRRC32_uc010rsf.2_Missense_Mutation_p.T235M	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	235						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGGGAGGCCGTCTGAAAGGC	0.617												
PIK3C2G	5288	broad.mit.edu	37	12	18544153	18544153	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:18544153T>C	uc001rdt.3	+	13	2086	c.1970T>C	c.(1969-1971)aTt>aCt	p.I657T	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.I698T|PIK3C2G_uc010sic.2_Missense_Mutation_p.I476T	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	657					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATAAAACATATTGCCAGACTT	0.383												
KSR2	283455	broad.mit.edu	37	12	117962680	117962680	+	Silent	SNP	C	C	T	rs140960062	by1000genomes	TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:117962680C>T	uc001two.2	-	13	2164	c.2109G>A	c.(2107-2109)ccG>ccA	p.P703P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	732	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGGTGAGGCGGGCTCATGC	0.557												
TMEM132D	121256	broad.mit.edu	37	12	130184667	130184667	+	Missense_Mutation	SNP	G	G	A	rs146143180		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:130184667G>A	uc009zyl.1	-	1	984	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	219						integral to membrane		p.P219L(4)|p.P219P(1)|p.P219T(1)|p.Q218H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTCCCCTCCGGCTGGTCCAC	0.682												
SFSWAP	6433	broad.mit.edu	37	12	132249171	132249171	+	Missense_Mutation	SNP	T	T	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:132249171T>A	uc001uja.1	+	11	2031	c.1891T>A	c.(1891-1893)Tgt>Agt	p.C631S	SFSWAP_uc010tbn.1_Missense_Mutation_p.C631S|SFSWAP_uc001ujb.1_Missense_Mutation_p.C424S	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA.	631					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						TGCCCCACCCTGTGTAGTTGT	0.423												
LRFN5	145581	broad.mit.edu	37	14	42356720	42356720	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr14:42356720G>T	uc001wvm.3	+	2	2090	c.892G>T	c.(892-894)Gtc>Ttc	p.V298F	LRFN5_uc010ana.3_Missense_Mutation_p.V298F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	298	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGATGAGAGTCCTGGAGGG	0.478										HNSCC(30;0.082)		
MOAP1	64112	broad.mit.edu	37	14	93650454	93650454	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr14:93650454G>A	uc021saw.1	-	0	134	c.134C>T	c.(133-135)cCc>cTc	p.P45L	MOAP1_uc001ybj.3_Missense_Mutation_p.P45L|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	45					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ctcccccaagggagctaaacc	0.557												
RBBP6	5930	broad.mit.edu	37	16	24581488	24581489	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:24581488_24581489delTT	uc002dmh.3	+	16	4517_4518	c.3477_3478delTT	c.(3475-3480)gattttfs	p.D1159fs	RBBP6_uc010vcb.1_Frame_Shift_Del_p.D1026fs|RBBP6_uc002dmi.3_Frame_Shift_Del_p.D1125fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Del_p.D992fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1159					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TAGATAAAGATTTTGAGTCTTC	0.342												
IRX5	10265	broad.mit.edu	37	16	54967470	54967470	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:54967470C>T	uc002ehv.3	+	2	1137	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	IRX5_uc021tin.1_Silent_p.A378A|IRX5_uc002ehw.3_Silent_p.A313A	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	379					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CGTCGCCGGCCCCGGCGCCGT	0.721												
CLEC3A	10143	broad.mit.edu	37	16	78064624	78064624	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:78064624C>T	uc002ffh.4	+	2	561	c.480C>T	c.(478-480)aaC>aaT	p.N160N	CLEC3A_uc021tlr.1_Silent_p.N108N	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	160	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CACAGCCTAACGGTGGCAAGC	0.522												
ACAP1	9744	broad.mit.edu	37	17	7253543	7253543	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7253543G>A	uc002ggd.2	+	19	2265	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	KCTD11_uc002gge.4_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	687	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCCAACGCTGACATCGTCAC	0.682												
TP53	7157	broad.mit.edu	37	17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7574003G>A	uc002gim.2	-	9	1218	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(132)|p.R342fs*3(17)|p.0?(8)|p.R342P(3)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.F341fs*4(1)|p.F341C(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.557		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)		
TP53	7157	broad.mit.edu	37	17	7578476	7578476	+	Missense_Mutation	SNP	G	G	A	rs137852790		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7578476G>A	uc002gim.2	-	4	648	c.454C>T	c.(454-456)Ccg>Tcg	p.P152S	TP53_uc002gig.1_Missense_Mutation_p.P152S|TP53_uc002gih.3_Missense_Mutation_p.P152S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P20S|TP53_uc010cnf.1_Missense_Mutation_p.P20S|TP53_uc002gii.1_Missense_Mutation_p.P20S|TP53_uc010cni.1_Missense_Mutation_p.P152S|TP53_uc010cnh.1_Missense_Mutation_p.P152S|TP53_uc002gij.2_Missense_Mutation_p.P152S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59S|TP53_uc002gio.2_Missense_Mutation_p.P20S|TP53_uc010vug.2_Missense_Mutation_p.P113S	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).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(66)|p.P152L(64)|p.P152S(44)|p.P151H(27)|p.P152fs*18(20)|p.P152T(14)|p.P151T(14)|p.P151P(12)|p.P152fs*29(10)|p.P152fs*14(10)|p.P151A(9)|p.0?(8)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.P152R(6)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152A(4)|p.P152fs*28(4)|p.P152Q(4)|p.P151_V173del23(2)|p.P152_P153del(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P152del(2)|p.Q144_G154del11(2)|p.P153fs*16(1)|p.P151del(1)|p.T57fs*16(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(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)		GTGCCGGGCGGGGGTGTGGAA	0.607		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)		
PFAS	5198	broad.mit.edu	37	17	8170745	8170745	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:8170745G>A	uc002gkr.3	+	24	3372	c.3231G>A	c.(3229-3231)cgG>cgA	p.R1077R	PFAS_uc010vuv.2_Silent_p.R653R|PFAS_uc002gks.3_Silent_p.R156R	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	1077	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATGGAGACCGGGAGATGGCCG	0.612												
KRT13	3860	broad.mit.edu	37	17	39661389	39661389	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:39661389G>A	uc002hwu.1	-	0	477	c.414C>T	c.(412-414)gaC>gaT	p.D138D	KRT13_uc002hwv.1_Silent_p.D138D|KRT13_uc010wfr.2_Silent_p.D31D|KRT13_uc010cxo.3_Silent_p.D138D|KRT13_uc021txk.1_Silent_p.D31D	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	138	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R137H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCAGGTGCCAGTCACGGATCT	0.602												
FMNL1	752	broad.mit.edu	37	17	43320637	43320637	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:43320637C>T	uc002iin.3	+	16	2363	c.2163C>T	c.(2161-2163)acC>acT	p.T721T	FMNL1_uc002iiq.3_Silent_p.T299T|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.T48T	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	721	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGCCATCACCCTGCGGAAGG	0.642												
RGS9	8787	broad.mit.edu	37	17	63193312	63193312	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:63193312C>T	uc002jfe.3	+	12	1132	c.929C>T	c.(928-930)cCc>cTc	p.P310L	RGS9_uc021ubw.1_Missense_Mutation_p.P307L|RGS9_uc010dem.3_Missense_Mutation_p.P307L|RGS9_uc002jfd.3_Missense_Mutation_p.P307L|RGS9_uc002jfg.3_Missense_Mutation_p.P81L	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	310	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ATCCGAGACCCCAAAGGTCGA	0.423												
ICAM5	7087	broad.mit.edu	37	19	10405102	10405102	+	Silent	SNP	C	C	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr19:10405102C>A	uc002mnu.4	+	8	2081	c.2016C>A	c.(2014-2016)acC>acA	p.T672T	ICAM5_uc002mnv.4_Silent_p.T547T	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	672	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ATGAATCTACCTGCCCAAGTC	0.692												
HADHA	3030	broad.mit.edu	37	2	26457099	26457099	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:26457099C>T	uc002rgy.3	-	4	569	c.439G>A	c.(439-441)Gga>Aga	p.G147R	HADHA_uc010yks.2_Missense_Mutation_p.G60R|HADHA_uc010ykt.1_Missense_Mutation_p.G60R	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	147					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGTCCTCCTCCCAGGCAGGAT	0.433												
FAM123C	205147	broad.mit.edu	37	2	131520666	131520666	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:131520666C>T	uc021voy.1	+	0	1021	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	FAM123C_uc002trw.2_Missense_Mutation_p.R341W|FAM123C_uc010fmv.2_Missense_Mutation_p.R341W|FAM123C_uc010fms.1_Missense_Mutation_p.R341W|FAM123C_uc010fmt.1_Missense_Mutation_p.R341W|FAM123C_uc010fmu.1_Missense_Mutation_p.R341W	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	341								p.R341W(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGACCAATCCCGGCTGGACAC	0.667												
PHOSPHO2	493911	broad.mit.edu	37	2	170558142	170558142	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:170558142T>C	uc021vsh.1	+	3	979	c.661T>C	c.(661-663)Tct>Cct	p.S221P	PHOSPHO2_uc021vsi.1_Missense_Mutation_p.S221P|PHOSPHO2_uc021vsj.1_Missense_Mutation_p.S221P|PHOSPHO2_uc021vsg.1_Missense_Mutation_p.S221P|PHOSPHO2_uc002ufg.3_Missense_Mutation_p.S221P|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Missense_Mutation_p.S221P	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN	Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.	221							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						TATGGAATATTCTGTTGTAGT	0.328												
MYO1B	4430	broad.mit.edu	37	2	192248067	192248067	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:192248067A>T	uc010fsg.2	+	15	1608	c.1353_splice	c.e15+1	p.N451_splice	MYO1B_uc002usq.2_Splice_Site_p.N451_splice|MYO1B_uc002usr.2_Splice_Site_p.N451_splice|MYO1B_uc002ust.1_Splice_Site_p.N89_splice	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	451	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTAATAGAAAATGTGAGTACT	0.313												
ALS2	57679	broad.mit.edu	37	2	202609022	202609022	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:202609022C>G	uc002uyo.3	-	9	2485	c.2129G>C	c.(2128-2130)aGt>aCt	p.S710T	ALS2_uc002uyp.4_Missense_Mutation_p.S710T|ALS2_uc002uyq.3_Missense_Mutation_p.S710T|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	710	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTTGATATCACTTAGTTTTGA	0.398												
SLC11A1	6556	broad.mit.edu	37	2	219254613	219254613	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:219254613C>T	uc002vhv.3	+	8	1156	c.816C>T	c.(814-816)gcC>gcT	p.A272A	SLC11A1_uc010fvp.1_Silent_p.A272A|SLC11A1_uc010fvq.1_Silent_p.A205A|SLC11A1_uc010zkc.1_Silent_p.A205A|SLC11A1_uc002vhu.1_Silent_p.A67A|SLC11A1_uc002vhw.3_Silent_p.A154A|SLC11A1_uc010fvr.3_Silent_p.A67A	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	272					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|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|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)		TAGACCGGGCCCGCCGAGCAG	0.537												
NANP	140838	broad.mit.edu	37	20	25597030	25597030	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:25597030G>C	uc002wuy.3	-	1	342	c.278C>G	c.(277-279)gCt>gGt	p.A93G		NM_152667	NP_689880	Q8TBE9	NANP_HUMAN	Homo sapiens N-acetylneuraminic acid phosphatase (NANP), mRNA.	93					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						ACATTCTTCAGCCAATTTTCT	0.403												
CDH4	1002	broad.mit.edu	37	20	60509217	60509217	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:60509217C>T	uc002ybn.2	+	14	2571	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	CDH4_uc002ybr.2_Missense_Mutation_p.P791L|CDH4_uc002ybp.2_Missense_Mutation_p.P754L	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	828					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGCGCTGAGCCCCAGTACCCG	0.677												
NTSR1	4923	broad.mit.edu	37	20	61341151	61341151	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:61341151C>A	uc002ydf.3	+	0	963	c.592C>A	c.(592-594)Ctg>Atg	p.L198M		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	198						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGCCTCGGCCCTGCTGGCGGT	0.672												
GAB4	128954	broad.mit.edu	37	22	17450832	17450832	+	Splice_Site	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr22:17450832C>T	uc002zlw.3	-	4	1045	c.937_splice	c.e4+1	p.A313_splice	GAB4_uc010gqs.1_Intron	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	313										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGGTACACACCCTCATTATC	0.597												
DEPDC5	9681	broad.mit.edu	37	22	32234828	32234828	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr22:32234828C>T	uc011alu.2	+	26	2714	c.2512C>T	c.(2512-2514)Cga>Tga	p.R838*	DEPDC5_uc011als.2_Nonsense_Mutation_p.R760*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R829*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R829*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R278*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R159*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R127*|DEPDC5_uc011alx.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	829					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCTATAGCCGAGGTGAGTT	0.458												
RNF123	63891	broad.mit.edu	37	3	49737157	49737157	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr3:49737157C>T	uc003cxh.3	+	11	1022	c.936C>T	c.(934-936)acC>acT	p.T312T	RNF123_uc010hky.1_5'UTR|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	312						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCAGCCCACCGTCCTCCTCA	0.647												
ALG3	10195	broad.mit.edu	37	3	183962404	183962404	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr3:183962404G>A	uc003fne.2	-	4	742	c.711C>T	c.(709-711)atC>atT	p.I237I	ALG3_uc011brc.1_Silent_p.I202I|ALG3_uc011brd.1_Silent_p.I181I|ALG3_uc011bre.1_Silent_p.I189I	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	237					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCCAGCACAGATTCCCAGCT	0.537												
PDGFRA	5156	broad.mit.edu	37	4	55131090	55131090	+	Silent	SNP	A	A	G			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:55131090A>G	uc003han.4	+	4	964	c.633A>G	c.(631-633)acA>acG	p.T211T	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Silent_p.T105T|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	211	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A210V(1)|p.A210fs*7(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTATAGCAACATCAGAGCTGG	0.373			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)		
LPHN3	23284	broad.mit.edu	37	4	62363023	62363023	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:62363023G>A	uc010ihh.3	+	0	185	c.12G>A	c.(10-12)tcG>tcA	p.S4S	LPHN3_uc003hcq.4_Silent_p.S4S|LPHN3_uc010ihg.1_Silent_p.S4S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	4					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTGGCCATCGCAGCTACTAA	0.348												
DCK	1633	broad.mit.edu	37	4	71888254	71888254	+	Missense_Mutation	SNP	T	T	G			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:71888254T>G	uc003hfx.3	+	2	666	c.378T>G	c.(376-378)ttT>ttG	p.F126L	DCK_uc011cbb.2_Missense_Mutation_p.F54L	NM_000788	NP_000779	P27707	DCK_HUMAN	Homo sapiens deoxycytidine kinase (DCK), mRNA.	126					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TATTATTTTTTGAACGATCTG	0.358												
ANXA3	306	broad.mit.edu	37	4	79507428	79507428	+	Silent	SNP	C	C	T	rs144437584		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:79507428C>T	uc003hld.3	+	5	637	c.327C>T	c.(325-327)aaC>aaT	p.N109N		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	109					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CGGGAACAAACGAAGATGCCT	0.343												
FGG	2266	broad.mit.edu	37	4	155529787	155529787	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:155529787C>T	uc003ioj.3	-	6	823	c.682G>A	c.(682-684)Gta>Ata	p.V228I	FGG_uc003iog.3_Missense_Mutation_p.V228I	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	228	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTGAAATCTACACTGCCATCA	0.343												
PLEKHG4B	153478	broad.mit.edu	37	5	181778	181778	+	Missense_Mutation	SNP	G	G	A	rs114040866	by1000genomes	TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:181778G>A	uc003jak.2	+	16	3534	c.3484G>A	c.(3484-3486)Gtc>Atc	p.V1162I		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1162					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGACAGCATCGTCAAGGGCAC	0.637												
BASP1	10409	broad.mit.edu	37	5	17275370	17275370	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:17275370C>T	uc003jfx.3	+	1	224	c.45C>T	c.(43-45)aaC>aaT	p.N15N	BASP1_uc021xws.1_Silent_p.N15N	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	15					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						ACAATGTGAACGACGAGAAAG	0.567												
CDH18	1016	broad.mit.edu	37	5	19721516	19721516	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:19721516C>T	uc003jgd.3	-	4	1117	c.583G>A	c.(583-585)Gct>Act	p.A195T	CDH18_uc011cnm.2_Missense_Mutation_p.A195T|CDH18_uc003jgc.3_Missense_Mutation_p.A195T|CDH18_uc021xwu.1_Missense_Mutation_p.A195T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	195	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A195T(2)|p.S194R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACCCGAGCGCTGTTTCCA	0.463												
PIK3R1	5295	broad.mit.edu	37	5	67575468	67575468	+	Frame_Shift_Del	DEL	G	G	-	rs143572224		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:67575468delG	uc003jva.3	+	4	1121	c.541delG	c.(541-543)gttfs	p.V181fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	181	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGATGTGCACGTTTTGGCTGA	0.393			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
POU5F2	134187	broad.mit.edu	37	5	93077142	93077142	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:93077142C>T	uc003kkl.1	-	0	168	c.128G>A	c.(127-129)aGg>aAg	p.R43K	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GACCATCACCCTGCCAGGGGC	0.687												
FTMT	94033	broad.mit.edu	37	5	121187720	121187720	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:121187720C>T	uc003kss.3	+	0	71	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	21					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R20C(1)|p.R20S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCTCTGCGCCCGGTGCGCTGC	0.736												
SLU7	10569	broad.mit.edu	37	5	159842130	159842130	+	Splice_Site	DEL	A	A	-			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:159842130delA	uc003lyg.3	-	2	325	c.170_splice	c.e2+1	p.K57_splice	SLU7_uc003lyh.1_Splice_Site_p.K57_splice|SLU7_uc003lyi.1_Splice_Site_p.K57_splice	NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	57					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAAGTACTTACTTTCCTTCT	0.358												
GABRB2	2561	broad.mit.edu	37	5	160721269	160721269	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:160721269C>T	uc003lys.1	-	10	1576	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	GABRB2_uc011deh.1_Missense_Mutation_p.R254Q|GABRB2_uc003lyr.1_Missense_Mutation_p.R415Q|GABRB2_uc003lyt.1_Missense_Mutation_p.R415Q	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGAGCATTTCGGCCAAAACT	0.532												
FKBPL	63943	broad.mit.edu	37	6	32097113	32097113	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr6:32097113C>T	uc003nzr.3	-	1	715	c.445G>A	c.(445-447)Ggg>Agg	p.G149R	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.G149R	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	149					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTCCATGGCCCTACGCCCATA	0.582												
PKHD1	5314	broad.mit.edu	37	6	51890856	51890856	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr6:51890856G>T	uc003pah.1	-	31	4028	c.3752C>A	c.(3751-3753)aCc>aAc	p.T1251N	PKHD1_uc003pai.3_Missense_Mutation_p.T1251N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1251	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCTGGCAGGGTTTCACACCA	0.597												
WBSCR17	64409	broad.mit.edu	37	7	70597844	70597844	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:70597844C>T	uc003tvy.3	+	0	56	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	19						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V18L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCGCGGTAGCCGGCTTCGTG	0.677												
CLIP2	7461	broad.mit.edu	37	7	73791076	73791076	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:73791076G>A	uc003uam.3	+	9	2672	c.2345G>A	c.(2344-2346)aGt>aAt	p.S782N	CLIP2_uc003uan.3_Missense_Mutation_p.S747N|CLIP2_uc003uao.3_Missense_Mutation_p.S176N	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	782						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAGGTCGAGAGTTTGCGGGAG	0.632												
AKAP9	10142	broad.mit.edu	37	7	91711915	91711915	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:91711915delC	uc003ulg.3	+	31	8324	c.8099delC	c.(8098-8100)gctfs	p.A2700fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.A2692fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.A2323fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.A470fs|AKAP9_uc003ulk.3_5'Flank	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2712	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAATCAGTGGCTACCAAAGCA	0.373			T	BRAF	papillary thyroid							
JHDM1D	80853	broad.mit.edu	37	7	139824534	139824534	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:139824534C>T	uc003vvm.3	-	6	942	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	313	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGATTCATAACGTGCCAAATT	0.358												
MGAM	8972	broad.mit.edu	37	7	141765179	141765179	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:141765179G>A	uc003vwy.3	+	37	4583	c.4529G>A	c.(4528-4530)cGc>cAc	p.R1510H		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1510	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCATCACCCGCTCCACATTT	0.597												
KEL	3792	broad.mit.edu	37	7	142658027	142658027	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:142658027G>A	uc003wcb.3	-	3	598	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	130					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTATTCTCCGAAGTCGGTTT	0.502												
NEFL	4747	broad.mit.edu	37	8	24813390	24813390	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr8:24813390C>T	uc003xee.3	-	0	742	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	214	Coil 1B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCAAGCTGTCGATGCGCTTC	0.632												
INSL6	11172	broad.mit.edu	37	9	5185459	5185459	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:5185459G>A	uc003zix.3	-	0	160	c.144C>T	c.(142-144)gcC>gcT	p.A48A		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	48						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GGCTCCAGTTGGCATGGCCGC	0.532												
NUDT2	318	broad.mit.edu	37	9	34343182	34343182	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:34343182C>T	uc003zuc.3	+	4	475	c.188C>T	c.(187-189)gCa>gTa	p.A63V	NUDT2_uc003zub.3_Missense_Mutation_p.A63V|NUDT2_uc003zud.3_Missense_Mutation_p.A63V|NUDT2_uc022bga.1_Missense_Mutation_p.A63V	NM_147172	NP_671701	P50583	AP4A_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 2 (NUDT2), transcript variant 2, mRNA.	63	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CAAGAGGAAGCAGGCATAGAA	0.493												
NAA35	60560	broad.mit.edu	37	9	88633637	88633637	+	Silent	SNP	T	T	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:88633637T>C	uc004aoi.4	+	20	2075	c.1938T>C	c.(1936-1938)taT>taC	p.Y646Y	NAA35_uc004aoj.4_Silent_p.Y646Y	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	646					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TCAATAAATATAGCCCTCCTC	0.363												
PTPN3	5774	broad.mit.edu	37	9	112189356	112189356	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:112189356C>T	uc004bed.2	-	11	987	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	PTPN3_uc004beb.2_Missense_Mutation_p.R161Q|PTPN3_uc004bec.2_Missense_Mutation_p.R161Q|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.R292Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R183Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R5Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R5Q	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	292	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTTGCAAGATCGGTAATTCAG	0.448												
RGS3	5998	broad.mit.edu	37	9	116268773	116268773	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:116268773G>A	uc004bhq.3	+	13	1294	c.1085_splice	c.e13+1	p.R362_splice	RGS3_uc004bhr.3_Splice_Site_p.R250_splice|RGS3_uc004bhs.3_Splice_Site_p.R252_splice|RGS3_uc004bht.3_Splice_Site_p.R81_splice|RGS3_uc010muy.3_Splice_Site_p.R81_splice|RGS3_uc004bhu.3_Splice_Site	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	362	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CACGAGATCCGGTGACAGGGG	0.677												
GYG2	8908	broad.mit.edu	37	X	2799206	2799206	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:2799206G>A	uc004cqs.1	+	11	1740	c.1458G>A	c.(1456-1458)aaG>aaA	p.K486K	GYG2_uc004cqu.1_Silent_p.K454K|GYG2_uc004cqx.2_Silent_p.K415K|GYG2_uc004cqt.1_Silent_p.K455K|GYG2_uc004cqv.1_Silent_p.K229K|GYG2_uc004cqw.1_Silent_p.K446K|GYG2_uc010ndc.1_Silent_p.K264K	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	486					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACATGGGGAAGGACGCGTTTG	0.552												
MXRA5	25878	broad.mit.edu	37	X	3229254	3229254	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:3229254G>A	uc004crg.4	-	6	7147	c.6990C>T	c.(6988-6990)gtC>gtT	p.V2330V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2330	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTCCTTCCCGACCTGATTTT	0.542												
ARHGAP6	395	broad.mit.edu	37	X	11272748	11272748	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:11272748T>C	uc004cup.1	-	1	1541	c.668A>G	c.(667-669)gAg>gGg	p.E223G	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.E223G|ARHGAP6_uc004cum.1_Missense_Mutation_p.E20G|ARHGAP6_uc004cun.1_Missense_Mutation_p.E43G|ARHGAP6_uc010neb.1_Missense_Mutation_p.E45G|ARHGAP6_uc011mif.1_Missense_Mutation_p.E20G	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	223					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCGGGCCCTCTCCAGCTCTGA	0.522												
CDKL5	6792	broad.mit.edu	37	X	18627018	18627018	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:18627018C>T	uc004cym.3	+	12	2285	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	CDKL5_uc004cyn.3_Missense_Mutation_p.R678C|CDKL5_uc022btn.1_Missense_Mutation_p.R669C	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	678					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTTCCATACACGCCAGAAGTC	0.433												
IL1RAPL1	11141	broad.mit.edu	37	X	29972739	29972739	+	Silent	SNP	A	A	G			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:29972739A>G	uc004dby.2	+	9	1810	c.1302A>G	c.(1300-1302)ctA>ctG	p.L434L		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	434	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGAAATCCTACCTGATATGC	0.363												
GRIPAP1	56850	broad.mit.edu	37	X	48831638	48831638	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:48831638G>A	uc004dly.1	-	24	2397	c.2362C>T	c.(2362-2364)Ctt>Ttt	p.L788F		NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	788						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						ATCTCCCGAAGGTTCTCGTCG	0.592												
NOX1	27035	broad.mit.edu	37	X	100117739	100117739	+	Silent	SNP	G	G	A			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:100117739G>A	uc004egj.3	-	4	614	c.408C>T	c.(406-408)tcC>tcT	p.S136S	NOX1_uc004egl.4_Silent_p.S136S|NOX1_uc010nne.3_Silent_p.S99S	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	136	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGGAGGCAAGGGAGCCATCTG	0.453												
BHLHB9	80823	broad.mit.edu	37	X	102004877	102004877	+	Silent	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:102004877C>T	uc022cbi.1	+	0	954	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BHLHB9_uc010nog.3_Silent_p.C318C|BHLHB9_uc011mrq.2_Silent_p.C318C|BHLHB9_uc011mrr.2_Silent_p.C318C|BHLHB9_uc011mrs.2_Silent_p.C318C|BHLHB9_uc011mrt.2_Silent_p.C318C|BHLHB9_uc004ejo.3_Silent_p.C318C|BHLHB9_uc011mru.2_Silent_p.C318C|BHLHB9_uc011mrv.2_Silent_p.C318C	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	318			C -> R (in dbSNP:rs4514179).			cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAATGGAATGCTATATGGATT	0.398												
MAGEA4	4103	broad.mit.edu	37	X	151093031	151093031	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:151093031C>T	uc022cgv.1	+	0	895	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_uc004fez.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffa.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffb.3_Missense_Mutation_p.R299C|MAGEA4_uc022cgu.1_Missense_Mutation_p.R327C|MAGEA4_uc004ffc.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffd.3_Missense_Mutation_p.R299C	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	299	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567												
