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
SLC45A1	50651	broad.mit.edu	37	1	8403928	8403928	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:8403928C>T	uc001apb.3	+	7	2102	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	SLC45A1_uc001apc.3_Missense_Mutation_p.A399V	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	701					carbohydrate transport	integral to membrane	symporter activity	p.A701V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACCTCGGCCGTGGGCAGT	0.617												
ZNF644	84146	broad.mit.edu	37	1	91405171	91405171	+	Silent	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:91405171G>C	uc001dnw.3	-	2	2023	c.1740C>G	c.(1738-1740)tcC>tcG	p.S580S	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Silent_p.S580S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGATTTTTTGGATGATCCTA	0.383												
ANKRD35	148741	broad.mit.edu	37	1	145558859	145558859	+	Missense_Mutation	SNP	G	G	A	rs150752253	byFrequency	TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:145558859G>A	uc001eob.1	+	6	586	c.478G>A	c.(478-480)Gca>Aca	p.A160T	ANKRD35_uc010oyx.1_Missense_Mutation_p.A3T	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	160								p.A160T(2)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGATGATCGCATCGCTGGG	0.577												
SLC45A3	85414	broad.mit.edu	37	1	205632669	205632669	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:205632669G>A	uc001hda.1	-	2	589	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	84					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGCCGGCGGCGGCCATAGCGT	0.637			T	"""ETV1, ETV5, ELK4, ERG"""	prostate							
FAM177B	400823	broad.mit.edu	37	1	222919976	222919976	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:222919976A>G	uc001hnt.3	+	2	355	c.89A>G	c.(88-90)gAc>gGc	p.D30G	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	30										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						CATTTTGTTGACGGAGACATC	0.408												
EXO1	9156	broad.mit.edu	37	1	242048792	242048792	+	Silent	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:242048792A>G	uc021plj.1	+	12	2702	c.2388A>G	c.(2386-2388)aaA>aaG	p.K796K	EXO1_uc001hzh.3_Silent_p.K796K|EXO1_uc009xgq.3_Silent_p.K795K|EXO1_uc021plk.1_Silent_p.K796K	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	796	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGCTCTGGAAAAACTTTGGAT	0.418								Editing and processing nucleases				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318												
RRP8	23378	broad.mit.edu	37	11	6622635	6622635	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:6622635C>G	uc001med.3	-	2	809	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	221					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GGAGACACCTCTGTCTTCTCT	0.607												
OR8J3	81168	broad.mit.edu	37	11	55904564	55904564	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:55904564T>C	uc010riz.2	-	0	631	c.631A>G	c.(631-633)Atg>Gtg	p.M211V		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M211I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACTGTAATCATGGAAAAAACC	0.358												
MS4A14	84689	broad.mit.edu	37	11	60164186	60164186	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:60164186G>T	uc001npj.3	+	0	700	c.135G>T	c.(133-135)ttG>ttT	p.L45F	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.L45F|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	45						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CAAGAGTCTTGGGGGTAAGTC	0.423												
TPCN2	219931	broad.mit.edu	37	11	68822263	68822263	+	Silent	SNP	A	A	G	rs142314553		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:68822263A>G	uc001oos.2	+	2	365	c.249A>G	c.(247-249)caA>caG	p.Q83Q	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Silent_p.Q83Q|TPCN2_uc021qmo.1_5'Flank	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	83					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTATGCCAACGGTGAGAAC	0.602												
C1QTNF5	83552	broad.mit.edu	37	11	119212361	119212361	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:119212361T>G	uc010rzg.1	-	9	1443	c.1283A>C	c.(1282-1284)gAg>gCg	p.E428A	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	546	LDL-receptor class A 2.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCACTGGTGCTCCGCTTCCTG	0.647												
OR10S1	219873	broad.mit.edu	37	11	123847740	123847740	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:123847740A>G	uc001pzm.1	-	0	659	c.659T>C	c.(658-660)gTg>gCg	p.V220A		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V220M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCCTGCAGCCACGATGCCAAT	0.562												
APLP2	334	broad.mit.edu	37	11	129999095	129999095	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:129999095G>A	uc010sby.2	+	9	1606	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	APLP2_uc001qfp.3_Silent_p.P483P|APLP2_uc001qfq.3_Silent_p.P427P|APLP2_uc010sbz.2_Silent_p.P271P|APLP2_uc001qfr.3_Silent_p.P249P|APLP2_uc001qfs.3_Silent_p.P254P|APLP2_uc021qsg.1_Silent_p.P493P|APLP2_uc001qfv.3_Silent_p.P374P	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	483					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGTCTGACCCGCCACGGGTGA	0.572												
ATN1	1822	broad.mit.edu	37	12	7045674	7045674	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr12:7045674C>T	uc001qrw.1	+	4	1481	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	ATN1_uc001qrx.1_Missense_Mutation_p.P415L|ATN1_uc001qry.1_Missense_Mutation_p.P414L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	415					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTCCCTCCCCCAACAAGCCTC	0.607												
PDE3A	5139	broad.mit.edu	37	12	20790147	20790147	+	Silent	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr12:20790147A>G	uc001reh.2	+	8	2155	c.2115A>G	c.(2113-2115)agA>agG	p.R705R	PDE3A_uc021qwa.1_Silent_p.R383R	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	705					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATATAGGAAGAAAATGTGGCC	0.343												
SACS	26278	broad.mit.edu	37	13	23912431	23912431	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr13:23912431T>C	uc001uon.2	-	9	6173	c.5584A>G	c.(5584-5586)Aca>Gca	p.T1862A	SACS_uc001uoo.2_Missense_Mutation_p.T1715A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1862					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTTTCACTGTCCACTTCTGG	0.453												
PAN3	255967	broad.mit.edu	37	13	28851372	28851372	+	Splice_Site	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr13:28851372A>G	uc001urz.3	+	15	2202	c.2050_splice	c.e15-2	p.Q684_splice	PAN3_uc001ury.3_Splice_Site_p.Q372_splice|PAN3_uc001urx.3_Splice_Site_p.Q484_splice	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	684	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTTTCATGTCAGCAAGCAGAT	0.343												
G2E3	55632	broad.mit.edu	37	14	31081472	31081472	+	Nonsense_Mutation	SNP	C	C	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr14:31081472C>G	uc001wqk.2	+	12	1714	c.1560C>G	c.(1558-1560)taC>taG	p.Y520*	G2E3_uc010tpf.1_Nonsense_Mutation_p.Y474*|G2E3_uc001wql.1_Nonsense_Mutation_p.Y32*	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	520	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTATAACTACCTTGAGTTAA	0.318												
WDHD1	11169	broad.mit.edu	37	14	55451511	55451511	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr14:55451511T>G	uc001xbm.2	-	14	1926	c.1836A>C	c.(1834-1836)caA>caC	p.Q612H	WDHD1_uc010aom.2_Missense_Mutation_p.Q129H|WDHD1_uc001xbn.2_Missense_Mutation_p.Q489H	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	612				Q -> K (in Ref. 2; AAH43349/AAH00622).		cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATGCAAAATTTGTTTTTTCT	0.378												
TCF12	6938	broad.mit.edu	37	15	57554312	57554313	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:57554312_57554313delCT	uc002aec.3	+	15	1700_1701	c.1416_1417delCT	c.(1414-1419)gactctfs	p.D472fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.D524fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.D492fs|TCF12_uc002aea.3_Frame_Shift_Del_p.D496fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.D496fs|TCF12_uc002aed.3_Frame_Shift_Del_p.D472fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.D236fs|TCF12_uc002aee.3_Frame_Shift_Del_p.D302fs|TCF12_uc010bft.3_Frame_Shift_Del_p.D326fs|TCF12_uc010ugp.2_Frame_Shift_Del_p.D130fs|TCF12_uc010ugq.2_Frame_Shift_Del_p.D106fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.D85fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	472					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATCGGGAAGACTCTGTCAGTCT	0.356			T	TEC	extraskeletal myxoid chondrosarcoma							
TCF12	6938	broad.mit.edu	37	15	57555309	57555309	+	Splice_Site	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:57555309G>C	uc002aec.3	+	17	1795	c.1511_splice	c.e17-1	p.G504_splice	TCF12_uc010ugm.1_Splice_Site_p.G556_splice|TCF12_uc010ugn.1_Splice_Site_p.G524_splice|TCF12_uc002aea.3_Splice_Site_p.G528_splice|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Splice_Site_p.G528_splice|TCF12_uc002aed.3_Splice_Site_p.G504_splice|TCF12_uc010ugo.2_Splice_Site_p.G268_splice|TCF12_uc002aee.3_Splice_Site_p.G334_splice|TCF12_uc010bft.3_Splice_Site_p.G358_splice|TCF12_uc010ugp.2_Splice_Site_p.G162_splice|TCF12_uc010ugq.2_Splice_Site_p.G138_splice|TCF12_uc010ugr.1_Splice_Site_p.G117_splice	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	504					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.?(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTCTTTGTTAGGTGGCTTGCA	0.358			T	TEC	extraskeletal myxoid chondrosarcoma							
TARSL2	123283	broad.mit.edu	37	15	102241320	102241320	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:102241320A>G	uc002bxm.3	-	9	1344	c.1289T>C	c.(1288-1290)tTc>tCc	p.F430S	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	430					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTATAAATGAAGGCTCCTCT	0.303												
HBZ	3050	broad.mit.edu	37	16	202974	202974	+	Silent	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:202974C>T	uc002cft.1	+	0	121	c.66C>T	c.(64-66)gcC>gcT	p.A22A		NM_005332	NP_005323	P02008	HBAZ_HUMAN	Homo sapiens hemoglobin, zeta (HBZ), mRNA.	22						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACGCAGGCCGACACCATCG	0.627												
SSTR5	6755	broad.mit.edu	37	16	1129388	1129388	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:1129388C>A	uc021taf.1	+	1	591	c.520C>A	c.(520-522)Ctc>Atc	p.L174I	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.L174I	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	174					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTCGCTGCCGCTCCTGGTGTT	0.721												
C16orf91	283951	broad.mit.edu	37	16	1470457	1470457	+	Silent	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:1470457C>T	uc010uvd.2	-	3	660	c.660G>A	c.(658-660)tcG>tcA	p.S220S	C16orf91_uc002clr.3_Silent_p.S63S	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.	63						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TATGGCCCACCGACCAGCGGT	0.652												
PDILT	204474	broad.mit.edu	37	16	20370764	20370764	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:20370764G>A	uc002dhc.1	-	11	1855	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	544					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.Y544Y(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTTGGATACGTACTTGGTCA	0.512												
ARMC5	79798	broad.mit.edu	37	16	31470871	31470871	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:31470871C>A	uc010vfn.2	+	2	435	c.311C>A	c.(310-312)aCg>aAg	p.T104K	ARMC5_uc010vfo.2_Missense_Mutation_p.T41K|ARMC5_uc002ecc.3_Missense_Mutation_p.T9K|ARMC5_uc002eca.4_Missense_Mutation_p.T9K|ARMC5_uc002ecb.2_Missense_Mutation_p.T9K|ARMC5_uc010vfp.2_Missense_Mutation_p.T9K	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	9							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAACCCTCACGGACTCGCTC	0.687												
SPNS3	201305	broad.mit.edu	37	17	4337372	4337372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:4337372G>A	uc002fxt.3	+	0	154	c.110G>A	c.(109-111)tGg>tAg	p.W37*	SPNS3_uc002fxu.3_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	37					lipid transport|transmembrane transport	integral to membrane		p.W37F(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCCACCTCCTGGAGCCTGCCC	0.657												
TP53	7157	broad.mit.edu	37	17	7576910	7576910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:7576910delG	uc002gim.2	-	8	1130	c.936delC	c.(934-936)accfs	p.T312fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.T312fs|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Frame_Shift_Del_p.T180fs|TP53_uc010cnf.1_Frame_Shift_Del_p.T180fs|TP53_uc002gii.1_Frame_Shift_Del_p.T180fs|TP53_uc010cni.1_Frame_Shift_Del_p.T312fs|TP53_uc010cnh.1_Frame_Shift_Del_p.T312fs|TP53_uc002gij.2_Frame_Shift_Del_p.T312fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	312	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		T -> I (in sporadic cancers; somatic mutation).|T -> S (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.0?(8)|p.T312S(4)|p.T312T(4)|p.?(2)|p.S313fs*24(2)|p.N311H(1)|p.N311K(1)|p.T312fs*25(1)|p.T312fs*33(1)|p.L308fs*15(1)|p.N311fs*34(1)|p.L308fs*31(1)|p.T312A(1)|p.S313fs*32(1)|p.T312I(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)		GAGAGGAGCTGGTGTTGTTGG	0.488		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)		
KRTAP4-11	653240	broad.mit.edu	37	17	39274424	39274424	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:39274424G>C	uc002hvz.3	-	0	183	c.144C>G	c.(142-144)agC>agG	p.S48R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	48	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.S48R(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCCTGCAGCAGCTGGACACAC	0.672												
KRT34	3885	broad.mit.edu	37	17	39538605	39538605	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:39538605delG	uc002hwm.3	-	0	32	c.20delC	c.(19-21)ccafs	p.P7fs		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	7	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AATTGTGGGTGGGGGCTTGGC	0.458												
EVPL	2125	broad.mit.edu	37	17	74004095	74004095	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:74004095G>A	uc010wss.1	-	21	5485	c.5257C>T	c.(5257-5259)Ccc>Tcc	p.P1753S	EVPL_uc002jqi.2_Missense_Mutation_p.P1731S|EVPL_uc010wst.1_Missense_Mutation_p.P1201S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1731	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCCCACAGGGCCCCGAGGTG	0.642												
WDR7	23335	broad.mit.edu	37	18	54694330	54694330	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr18:54694330G>A	uc002lgk.1	+	27	4576	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	WDR7_uc002lgl.1_Silent_p.A1422A	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1455										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCAGCCCGCGTCCCCCGGCT	0.617												
ZNF407	55628	broad.mit.edu	37	18	72345426	72345426	+	Silent	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr18:72345426G>C	uc002llw.2	+	0	2504	c.2451G>C	c.(2449-2451)gcG>gcC	p.A817A	ZNF407_uc010xfc.2_Silent_p.A817A|ZNF407_uc010dqu.2_Silent_p.A817A|ZNF407_uc002llu.2_Silent_p.A816A	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCATGCTGGCGTCTGAGGAAC	0.438												
C3	718	broad.mit.edu	37	19	6707242	6707242	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:6707242C>T	uc002mfm.3	-	16	2152	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	697	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCCCGCATGCCGTCCTCGCA	0.667												
ZNF440	126070	broad.mit.edu	37	19	11943173	11943173	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:11943173A>C	uc002msp.1	+	3	1338	c.1182A>C	c.(1180-1182)aaA>aaC	p.K394N	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGAGAAACCCTATGAGT	0.463												
BCAM	4059	broad.mit.edu	37	19	45315773	45315773	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:45315773A>G	uc002ozu.3	+	3	516	c.472A>G	c.(472-474)Aca>Gca	p.T158A	BCAM_uc002ozt.1_Missense_Mutation_p.T158A	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	158	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAACAAAGGGACACTGTCTGT	0.647												
ZNF649	65251	broad.mit.edu	37	19	52394411	52394411	+	Silent	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:52394411G>C	uc002pxy.3	-	4	1304	c.978C>G	c.(976-978)ggC>ggG	p.G326G	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTGAATGAAGCCTTTTCCAC	0.458												
ZNF649	65251	broad.mit.edu	37	19	52394423	52394423	+	Silent	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:52394423T>C	uc002pxy.3	-	4	1292	c.966A>G	c.(964-966)gaA>gaG	p.E322E	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTTTCCACATTCACTGCATG	0.458												
KIR2DL1	3802	broad.mit.edu	37	19	55284980	55284980	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:55284980G>A	uc010erz.1	+	2	304	c.266G>A	c.(265-267)cGc>cAc	p.R89H	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.R89H	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	89	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.R89H(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCCATCAGTCGCATGACGCAA	0.537												
ZNF586	54807	broad.mit.edu	37	19	58290731	58290731	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:58290731A>G	uc002qqd.3	+	2	967	c.776A>G	c.(775-777)gAa>gGa	p.E259G	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Missense_Mutation_p.E216G|ZNF586_uc002qqe.3_3'UTR|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACACAGGAGAAAGGCCTTAT	0.443												
WDR43	23160	broad.mit.edu	37	2	29158460	29158460	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:29158460C>T	uc002rmo.2	+	11	1543	c.1511C>T	c.(1510-1512)cCg>cTg	p.P504L		NM_015131	NP_055946	Q15061	WDR43_HUMAN	Homo sapiens WD repeat domain 43 (WDR43), mRNA.	504						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACTATTATTCCGTTGTTACAA	0.328												
THADA	63892	broad.mit.edu	37	2	43804328	43804328	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:43804328A>T	uc002rsw.4	-	9	1222	c.870T>A	c.(868-870)ttT>ttA	p.F290L	THADA_uc002rsx.4_Missense_Mutation_p.F290L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.F290L|THADA_uc002rtc.4_Missense_Mutation_p.F290L|THADA_uc002rtd.3_Missense_Mutation_p.F290L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	290							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCTGCTCATAAACCACTCGG	0.478											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC3A1	6519	broad.mit.edu	37	2	44528234	44528234	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:44528234G>C	uc002ruc.4	+	5	1182	c.1104G>C	c.(1102-1104)atG>atC	p.M368I	SLC3A1_uc002rty.3_Missense_Mutation_p.M368I|SLC3A1_uc002rtz.2_Missense_Mutation_p.M368I|SLC3A1_uc002rua.3_Missense_Mutation_p.M368I|SLC3A1_uc002rub.2_Missense_Mutation_p.M368I|SLC3A1_uc002rud.4_Missense_Mutation_p.M90I|SLC3A1_uc002rue.4_5'Flank	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	368					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGCAGACCATGGACCAATACA	0.532												
ACVR1	90	broad.mit.edu	37	2	158626971	158626971	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:158626971G>A	uc002tzn.3	-	6	1129	c.699C>T	c.(697-699)gcC>gcT	p.A233A	ACVR1_uc002tzm.3_Silent_p.A233A|ACVR1_uc010fog.2_Silent_p.A233A	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	233	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGATCTTCACGGCAACATTCT	0.463												
TTN	7273	broad.mit.edu	37	2	179528601	179528601	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:179528601G>A	uc021vsy.1	-						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Silent_p.R277R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCTCTTCGCGGATAACCT	0.423												
TTN	7273	broad.mit.edu	37	2	179575886	179575886	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:179575886A>C	uc021vsy.1	-	93	24570	c.24345T>G	c.(24343-24345)aaT>aaG	p.N8115K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4776K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9042	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTAAAAATATTGAGTGTGG	0.448												
NCKAP1	10787	broad.mit.edu	37	2	183860521	183860521	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:183860521T>C	uc002upc.3	-	6	1051	c.649A>G	c.(649-651)Agg>Ggg	p.R217G	NCKAP1_uc002upb.3_Missense_Mutation_p.R223G	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	217					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAAAGATTCCTTCGAGGATAT	0.373												
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma							
GPBAR1	151306	broad.mit.edu	37	2	219128407	219128410	+	Frame_Shift_Del	DEL	CAGC	CAGC	-			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:219128407_219128410delCAGC	uc021vwu.1	+	0	960_963	c.960_963delCAGC	c.(958-963)agcagcfs	p.S320fs	GPBAR1_uc010zjx.1_Frame_Shift_Del_p.S320fs|GPBAR1_uc010zjw.1_Frame_Shift_Del_p.S320fs|GPBAR1_uc010zjy.1_Frame_Shift_Del_p.S320fs	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN	Homo sapiens G protein-coupled bile acid receptor 1 (GPBAR1), transcript variant 3, mRNA.	320						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCACCCAAGCAGCCAAAGCAGTG	0.642												
BCS1L	617	broad.mit.edu	37	2	219527689	219527689	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:219527689C>T	uc002vip.3	+	7	1319	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	BCS1L_uc002viq.3_Missense_Mutation_p.R325C|BCS1L_uc010fvu.3_Missense_Mutation_p.R325C|BCS1L_uc010fvv.3_Missense_Mutation_p.R325C|BCS1L_uc002vis.3_Missense_Mutation_p.R325C|BCS1L_uc021vwz.1_Missense_Mutation_p.R325C	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	325					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGAGGCCCGCATCGTGTT	0.577												
ANO7	50636	broad.mit.edu	37	2	242147068	242147068	+	Missense_Mutation	SNP	G	G	A	rs137878201		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:242147068G>A	uc002wax.2	+	10	1325	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	408						cell junction|chloride channel complex|cytosol	chloride channel activity	p.S407S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCTCTCCAGCGCCTGTGCCCT	0.622												
FRG1B	284802	broad.mit.edu	37	20	29628283	29628283	+	Silent	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:29628283G>C	uc010ztl.1	+	2	227	c.195G>C	c.(193-195)ggG>ggC	p.G65G	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Silent_p.G17G					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.G95G(4)|p.I64T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGAAGCAGGGGACATAGAAG	0.378												
DNMT3B	1789	broad.mit.edu	37	20	31368258	31368258	+	Silent	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:31368258C>T	uc002wyc.3	+	1	450	c.129C>T	c.(127-129)acC>acT	p.T43T	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.T43T|DNMT3B_uc002wye.3_Silent_p.T43T|DNMT3B_uc010ztz.2_Silent_p.T43T|DNMT3B_uc010zua.2_Silent_p.T43T|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.T55T	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	43	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTATCCGCACCCCGGAGATCA	0.652												
SULF2	55959	broad.mit.edu	37	20	46307466	46307466	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:46307466C>T	uc002xto.3	-	7	1477	c.1147G>A	c.(1147-1149)Ggg>Agg	p.G383R	SULF2_uc002xtr.3_Missense_Mutation_p.G383R|SULF2_uc002xtq.3_Missense_Mutation_p.G383R	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	383					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGGATTTCCCGTCCATATCC	0.617												
CHODL	140578	broad.mit.edu	37	21	19638284	19638284	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr21:19638284A>G	uc002ykv.3	+	5	1142	c.751A>G	c.(751-753)Aaa>Gaa	p.K251E	CHODL_uc002ykr.3_Missense_Mutation_p.K210E|CHODL_uc002yks.3_Missense_Mutation_p.K210E|CHODL_uc021whr.1_Missense_Mutation_p.K210E|CHODL_uc002ykt.3_Silent_p.Q175Q|CHODL_uc002yku.3_Silent_p.Q175Q|CHODL_uc021whs.1_Missense_Mutation_p.K232E	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	251					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGGAAGAACAAAAACTAGTCC	0.343												
POTEH	23784	broad.mit.edu	37	22	16287511	16287511	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:16287511G>A	uc010gqp.2	-	0	427	c.375C>T	c.(373-375)gaC>gaT	p.D125D	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	125										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCATAGCAGAGTCGTCGTGGT	0.612												
MYO18B	84700	broad.mit.edu	37	22	26291213	26291213	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:26291213C>T	uc003abz.1	+	27	4884	c.4634C>T	c.(4633-4635)tCg>tTg	p.S1545L	MYO18B_uc003aca.1_Missense_Mutation_p.S1426L|MYO18B_uc010guy.1_Missense_Mutation_p.S1427L|MYO18B_uc010guz.1_Missense_Mutation_p.S1425L|MYO18B_uc011aka.1_Missense_Mutation_p.S699L|MYO18B_uc011akb.1_Missense_Mutation_p.S1058L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1545	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCTGGACTCGGAGCTGACA	0.552												
SF3A1	10291	broad.mit.edu	37	22	30738811	30738811	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:30738811G>A	uc003ahl.3	-	4	841	c.709C>T	c.(709-711)Cga>Tga	p.R237*	SF3A1_uc021wnt.1_Nonsense_Mutation_p.R172*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	237					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AAAACTTCTCGGGGGTTTTCA	0.408												
GGA1	26088	broad.mit.edu	37	22	38016850	38016850	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:38016850A>G	uc003atc.3	+	5	845	c.458A>G	c.(457-459)gAt>gGt	p.D153G	GGA1_uc003ate.3_Missense_Mutation_p.D153G|GGA1_uc003atd.3_Missense_Mutation_p.D153G|GGA1_uc003atf.3_Missense_Mutation_p.D80G	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	153	Interaction with ARF3.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AAGCTTCCAGATGACACTACC	0.522												
FGD5	152273	broad.mit.edu	37	3	14862089	14862089	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:14862089A>G	uc003bzc.3	+	0	1621	c.1511A>G	c.(1510-1512)gAg>gGg	p.E504G	FGD5_uc011avk.2_Missense_Mutation_p.E504G	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	504					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACCGGACCTGAGGCGGGCTCG	0.637												
KALRN	8997	broad.mit.edu	37	3	124438292	124438292	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:124438292T>C	uc003ehg.3	+	59	9063	c.8936T>C	c.(8935-8937)gTc>gCc	p.V2979A	KALRN_uc003ehk.3_Missense_Mutation_p.V1282A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2978					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTACATTGTCAACCGGGTG	0.502												
COL6A5	256076	broad.mit.edu	37	3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:130174391C>T	uc010htj.1	+	36	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.T263M|COL6A5_uc010htk.1_Missense_Mutation_p.T263M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2224	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353												
ATR	545	broad.mit.edu	37	3	142188272	142188272	+	Silent	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:142188272G>A	uc003eux.4	-	37	6581	c.6459C>T	c.(6457-6459)caC>caT	p.H2153H	ATR_uc003euy.1_Silent_p.H39H	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2153	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAACTTCATCGTGAGAATGAC	0.343								Other conserved DNA damage response genes				
ABCC5	10057	broad.mit.edu	37	3	183700632	183700632	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:183700632C>G	uc003fmg.3	-	5	920	c.755G>C	c.(754-756)gGg>gCg	p.G252A	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Missense_Mutation_p.G252A	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	252	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R251L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAGGATGGCCCCCCGCAAGCG	0.507												
FAM193A	8603	broad.mit.edu	37	4	2698176	2698176	+	Silent	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:2698176T>C	uc010ick.3	+	16	3091	c.3090T>C	c.(3088-3090)ccT>ccC	p.P1030P	FAM193A_uc003gfd.3_Silent_p.P830P|FAM193A_uc011bvm.2_Silent_p.P852P|FAM193A_uc011bvn.2_Silent_p.P830P|FAM193A_uc010icl.3_Silent_p.P830P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.P684P	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	830										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AGGAGCAACCTAAAAAAATGG	0.453												
SLIT2	9353	broad.mit.edu	37	4	20547701	20547701	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:20547701A>G	uc003gpr.1	+	21	2528	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	SLIT2_uc003gps.1_Missense_Mutation_p.N767S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	775					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.N775S(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAACTCTCCAACTACAAACAT	0.358												
KDR	3791	broad.mit.edu	37	4	55958819	55958819	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:55958819C>T	uc003has.3	-	21	3336	c.3034G>A	c.(3034-3036)Gtg>Atg	p.V1012M	KDR_uc003hat.1_Missense_Mutation_p.V1012M	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1012	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTTAGCCACTTGGAAGCTG	0.463			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)		
TMPRSS11A	339967	broad.mit.edu	37	4	68784796	68784796	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:68784796T>G	uc003hdr.1	-	7	977	c.856A>C	c.(856-858)Acc>Ccc	p.T286P	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.T283P	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	286	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCCGAAAAGGTGACTCTGGAA	0.433												
UGT2B10	7365	broad.mit.edu	37	4	69874638	69874638	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:69874638T>C	uc011cao.1	-	6	1238	c.1112A>G	c.(1111-1113)gAc>gGc	p.D371G	UGT2B10_uc011can.1_Missense_Mutation_p.D287G			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	415					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGTGTTGAAGTCCACTCTAAC	0.403												
ADAM29	11086	broad.mit.edu	37	4	175897388	175897388	+	Missense_Mutation	SNP	G	G	C	rs148389603		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:175897388G>C	uc003iuc.3	+	4	1382	c.712G>C	c.(712-714)Gtc>Ctc	p.V238L	ADAM29_uc003iud.3_Missense_Mutation_p.V238L|ADAM29_uc010irr.3_Missense_Mutation_p.V238L|ADAM29_uc011cki.2_Missense_Mutation_p.V238L|ADAM29_uc021xuo.1_Missense_Mutation_p.V238L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	238	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CATTTTGGATGTCATTGGTGT	0.348												
NLN	57486	broad.mit.edu	37	5	65088386	65088386	+	Silent	SNP	A	A	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:65088386A>C	uc003juf.3	+	8	1609	c.1431A>C	c.(1429-1431)tcA>tcC	p.S477S	NLN_uc003jue.3_Silent_p.S477S|NLN_uc010iww.3_Silent_p.S172S	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	477					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity	p.S477S(2)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGAACTTCTCACAGCCAGTGG	0.552												
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:67589138G>C	uc003jva.3	+	9	1706	c.1126G>C	c.(1126-1128)Gga>Cga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				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.G376R(11)|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)	CAGGAAAGGGGGAAATAACAA	0.308			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
PCDHAC2	56140	broad.mit.edu	37	5	140222411	140222411	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:140222411G>A	uc003lhs.2	+	0	1505	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R502H	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	516	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGAGCGCTCGCTGTCG	0.672												
PCDHGC5	26025	broad.mit.edu	37	5	140810513	140810513	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:140810513G>A	uc003lkt.2	+	0	356	c.187G>A	c.(187-189)Gga>Aga	p.G63R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.G63R	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	63	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGCGCGGAGTCCGCAT	0.652												
ODZ2	57451	broad.mit.edu	37	5	167553791	167553791	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:167553791G>A	uc010jjd.3	+	11	2242	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I	ODZ2_uc003lzr.4_Missense_Mutation_p.V516I|ODZ2_uc003lzt.4_Missense_Mutation_p.V112I|ODZ2_uc010jje.3_Missense_Mutation_p.V19I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CACTCACGGCGTCTGCATCGG	0.587												
PPIL6	285755	broad.mit.edu	37	6	109752491	109752491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr6:109752491G>A	uc010kdp.3	-	2	870	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	PPIL6_uc003ptg.4_Nonsense_Mutation_p.Q97*|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	97					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CCCAGAAACTGACCATTAACA	0.403												
HOXA2	3199	broad.mit.edu	37	7	27142031	27142031	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:27142031T>A	uc003syh.3	-	0	364	c.89A>T	c.(88-90)gAt>gTt	p.D30V	HOXA2_uc022aaq.1_Missense_Mutation_p.D30V	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	30						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TTGAAATGTATCAGCGACAGG	0.493												
GCK	2645	broad.mit.edu	37	7	44189583	44189583	+	Silent	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:44189583A>G	uc003tkl.2	-	4	1034	c.564T>C	c.(562-564)gcT>gcC	p.A188A	GCK_uc003tkj.1_Silent_p.A187A|GCK_uc003tkk.1_Silent_p.A189A	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	188			A -> T (in MODY2; large increase in Km for glucose).		cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCCGTTTGATAGCGTCTCGCA	0.632												
MAGI2	9863	broad.mit.edu	37	7	77797372	77797372	+	Silent	SNP	A	A	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:77797372A>T	uc003ugx.3	-	14	2711	c.2457T>A	c.(2455-2457)ctT>ctA	p.L819L	MAGI2_uc003ugy.3_Silent_p.L805L|MAGI2_uc010ldx.1_Silent_p.L412L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	819	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCCTGGGTGAAGGCGGCCAT	0.517												
SAMD9L	219285	broad.mit.edu	37	7	92763379	92763379	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:92763379G>A	uc003umh.1	-	4	3122	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SAMD9L_uc003umj.1_Missense_Mutation_p.P636S|SAMD9L_uc003umi.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P636S|SAMD9L_uc003umk.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P636S|SAMD9L_uc022ahh.1_Missense_Mutation_p.P636S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	636								p.P636P(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACGGGCGGGCAAAAACCTT	0.398												
PPP1R3A	5506	broad.mit.edu	37	7	113519285	113519285	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:113519285C>A	uc010ljy.1	-	3	1893	c.1862G>T	c.(1861-1863)aGa>aTa	p.R621I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	621					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTTCCAGTTCTTGATGAACA	0.383												
MGAM	8972	broad.mit.edu	37	7	141759688	141759688	+	Silent	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:141759688T>C	uc003vwy.3	+	32	4035	c.3981T>C	c.(3979-3981)ccT>ccC	p.P1327P		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1327	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.P1327P(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGACACAGCCTTATCCTGCCT	0.463												
TUSC3	7991	broad.mit.edu	37	8	15519674	15519674	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr8:15519674T>C	uc003wwt.3	+	4	921	c.577T>C	c.(577-579)Ttc>Ctc	p.F193L	TUSC3_uc003wwu.3_Missense_Mutation_p.F193L	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	193					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.F193L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATTCGGGTTTTCAGACCACC	0.353												
LINGO2	158038	broad.mit.edu	37	9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:27949442_27949443insT	uc003zqv.1	-	6	1877_1878	c.1227_1228insA	c.(1225-1230)aaacccfs	p.K409fs	LINGO2_uc010mjf.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc003zqu.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc022bfc.1_Frame_Shift_Ins_p.K409fs	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	409	LRRCT.					integral to membrane		p.P410T(3)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.490												
TRIM32	22954	broad.mit.edu	37	9	119461599	119461599	+	Silent	SNP	C	C	T			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:119461599C>T	uc022bmo.1	+	0	1578	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Silent_p.T526T|TRIM32_uc004bjx.2_Silent_p.T526T	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	526					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.T526T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTGAGGGCACCGTCTACTTCA	0.542												
GARNL3	84253	broad.mit.edu	37	9	130155514	130155514	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:130155514A>G	uc011mae.2	+	27	3424	c.3023A>G	c.(3022-3024)gAc>gGc	p.D1008G	GARNL3_uc011mad.2_Missense_Mutation_p.D986G|GARNL3_uc010mxi.3_Missense_Mutation_p.D238G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	1008					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCCGATGAAGACATTATAGAC	0.483												
FTSJ1	24140	broad.mit.edu	37	X	48337070	48337070	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chrX:48337070T>C	uc004djo.1	+	3	580	c.257T>C	c.(256-258)gTa>gCa	p.V86A	FTSJ1_uc004djn.1_Missense_Mutation_p.V86A|FTSJ1_uc011mlw.1_Intron	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	86					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCAGGTGTGGTACAGATCCAG	0.592												
