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
MST1P9	11223	broad.mit.edu	37	1	17084066	17084066	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:17084066G>A	uc010ock.2	-	13	1855	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.R219W					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCGCTCTCCCGCACATGTCCT	0.602												
SZT2	23334	broad.mit.edu	37	1	43906999	43906999	+	Missense_Mutation	SNP	C	C	T	rs150927632		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:43906999C>T	uc001cjk.2	+	51	7372	c.4762C>T	c.(4762-4764)Cct>Tct	p.P1588S		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	2487						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGTTCGGACTCCTGGTGGAGC	0.582												
CYP4A11	1579	broad.mit.edu	37	1	47400170	47400170	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:47400170C>G	uc001cqp.4	-	6	903	c.852G>C	c.(850-852)aaG>aaC	p.K284N	CYP4A11_uc001cqq.2_Missense_Mutation_p.K284N|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	284					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCTCTTCCTCTTGATCTTCT	0.498												
HEATR8	374977	broad.mit.edu	37	1	55136211	55136211	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:55136211C>T	uc010ooe.1	+	5	1755	c.1431C>T	c.(1429-1431)tcC>tcT	p.S477S	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Silent_p.S45S|HEATR8_uc010ood.1_5'UTR|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.S477S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	477						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCAAGCTCCGTCCGCAAGC	0.637												
CSDE1	7812	broad.mit.edu	37	1	115269683	115269683	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:115269683T>C	uc001efi.3	-	13	2045	c.1523A>G	c.(1522-1524)gAt>gGt	p.D508G	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.D462G|CSDE1_uc001efm.3_Missense_Mutation_p.D477G|CSDE1_uc009wgv.3_Missense_Mutation_p.D462G|CSDE1_uc001efl.3_Missense_Mutation_p.D431G|CSDE1_uc001efn.3_Missense_Mutation_p.D431G	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	462					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.R508*(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCACAGTCATCATAAGCAAT	0.373												
TCHH	7062	broad.mit.edu	37	1	152084091	152084091	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:152084091G>A	uc009wne.1	-	2	1874	c.1602C>T	c.(1600-1602)agC>agT	p.S534S	TCHH_uc001ezp.2_Silent_p.S534S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	534	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGTTGCTCGCTCCTCAACC	0.652												
OR10Z1	128368	broad.mit.edu	37	1	158577031	158577032	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:158577031_158577032delTT	uc010pio.2	+	0	803_804	c.803_804delTT	c.(802-804)cttfs	p.L268fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCTACTCTCTTGAGAGAGATC	0.470												
LGR6	59352	broad.mit.edu	37	1	202287327	202287327	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:202287327C>T	uc001gxu.3	+	17	1896	c.1896C>T	c.(1894-1896)taC>taT	p.Y632Y	LGR6_uc001gxv.3_Silent_p.Y580Y|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.Y493Y	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	632						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCTGAGTACGGAGCCCGCT	0.622												
OR1C1	26188	broad.mit.edu	37	1	247921487	247921487	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:247921487C>T	uc010pza.2	-	0	222	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGTAGTCGACGTAAAGCAGA	0.463												
C10orf2	56652	broad.mit.edu	37	10	102749558	102749558	+	Silent	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr10:102749558A>G	uc001ksf.2	+	1	2076	c.1401A>G	c.(1399-1401)caA>caG	p.Q467Q	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Silent_p.Q13Q|C10orf2_uc001ksg.2_Silent_p.Q467Q|C10orf2_uc001ksi.2_Silent_p.Q13Q|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	467	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAAGATCAACTGGACAAAT	0.542												
OR56A4	120793	broad.mit.edu	37	11	6024337	6024337	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:6024337C>T	uc010qzv.2	-	0	42	c.42G>A	c.(40-42)caG>caA	p.Q14Q		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGAGGCCCTGTATCTGTC	0.368												
OR4P4	81300	broad.mit.edu	37	11	55406071	55406071	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:55406071A>G	uc010rij.2	+	0	238	c.238A>G	c.(238-240)Atg>Gtg	p.M80V		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CCCCAAATTAATGGTTGACTT	0.413												
GLYATL1	92292	broad.mit.edu	37	11	58723260	58723260	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:58723260G>A	uc001nnh.2	+	6	812	c.762G>A	c.(760-762)atG>atA	p.M254I	GLYATL1_uc001nnf.3_Missense_Mutation_p.M223I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.M223I|GLYATL1_uc001nnj.2_Missense_Mutation_p.M223I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	223						mitochondrion	glycine N-acyltransferase activity	p.M254I(2)|p.M223I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGGTAACCATGGACCCTTCTT	0.522												
TRPC6	7225	broad.mit.edu	37	11	101347101	101347101	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:101347101C>T	uc001pgk.4	-	5	2100	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N	TRPC6_uc009ywy.3_Missense_Mutation_p.D443N|TRPC6_uc009ywz.1_Missense_Mutation_p.D504N	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	559					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATTTGCGTCAATGATGCTC	0.378												
USP28	57646	broad.mit.edu	37	11	113677209	113677209	+	Splice_Site	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:113677209A>G	uc001poh.3	-	19	2433	c.2400_splice	c.e19+1	p.K800_splice	USP28_uc001pog.3_Intron|USP28_uc010rwy.2_Intron|USP28_uc001poi.3_Intron	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	800					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAACAGAGATACCTTAATCAG	0.438												
LRP6	4040	broad.mit.edu	37	12	12311913	12311913	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:12311913C>T	uc001rah.4	-	11	2783	c.2641G>A	c.(2641-2643)Gtc>Atc	p.V881I	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.V881I	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	881	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.V881L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAGTGAAAGACGAGGATGTCC	0.537												
OVCH1	341350	broad.mit.edu	37	12	29628100	29628100	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:29628100G>A	uc001rix.1	-	13	1494	c.1494C>T	c.(1492-1494)acC>acT	p.T498T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	498	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGAAGTGATGGTCAACATTC	0.299												
LRP1	4035	broad.mit.edu	37	12	57600507	57600507	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:57600507G>T	uc001snd.3	+	75	12308	c.11842G>T	c.(11842-11844)Ggt>Tgt	p.G3948C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3948					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATTGACCGGGGTGTCACCCA	0.607												
GRIP1	23426	broad.mit.edu	37	12	66911726	66911726	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:66911726C>T	uc001stk.3	-	5	774	c.533G>A	c.(532-534)cGt>cAt	p.R178H	GRIP1_uc010sta.1_Missense_Mutation_p.R122H|GRIP1_uc001stm.3_Missense_Mutation_p.R178H|GRIP1_uc001stl.1_Missense_Mutation_p.R122H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	178	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACAACTGGACGAGATTTATT	0.388												
METTL17	64745	broad.mit.edu	37	14	21458199	21458199	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:21458199G>C	uc001vyo.3	+	0	235	c.38G>C	c.(37-39)aGa>aCa	p.R13T	METTL17_uc010tlk.2_Missense_Mutation_p.R13T|METTL17_uc001vym.3_Missense_Mutation_p.R13T|METTL17_uc001vyn.3_Missense_Mutation_p.R13T	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	13					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ACATTAGGAAGATGGTGCCCC	0.617												
METTL17	64745	broad.mit.edu	37	14	21458453	21458453	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:21458453G>C	uc001vyo.3	+	1	337	c.140G>C	c.(139-141)aGg>aCg	p.R47T	METTL17_uc010tlk.2_Missense_Mutation_p.R47T|METTL17_uc001vym.3_Missense_Mutation_p.R47T|METTL17_uc001vyn.3_Missense_Mutation_p.R47T	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	47					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						CTGCAGAAGAGGCCTCATCGC	0.587											OREG0022561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GNG2	54331	broad.mit.edu	37	14	52433353	52433353	+	Missense_Mutation	SNP	C	C	T	rs139067662	by1000genomes	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:52433353C>T	uc001wzi.3	+	3	721	c.164C>T	c.(163-165)cCg>cTg	p.P55L	GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Missense_Mutation_p.P55L|GNG2_uc001wzj.3_Missense_Mutation_p.P55L|GNG2_uc001wzk.3_Missense_Mutation_p.P55L	NM_053064	NP_444292	P59768	GBG2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	55					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	p.P55L(4)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	ACCCCTGTTCCGGCTTCAGAA	0.527												
LTBP2	4053	broad.mit.edu	37	14	74970199	74970199	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:74970199G>A	uc001xqa.3	-	31	5080	c.4693C>T	c.(4693-4695)Cgc>Tgc	p.R1565C		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1565	EGF-like 18; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTCATGCAGCGCTGCTGGCTG	0.672												
PSMC1	5700	broad.mit.edu	37	14	90736610	90736610	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:90736610C>T	uc001xyf.3	+	9	1150	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	PSMC1_uc001xyg.3_Missense_Mutation_p.H295Y|PSMC1_uc001xyh.3_Missense_Mutation_p.H295Y	NM_002802	NP_002793	P62191	PRS4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.	368					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CTTTCAGATTCACACAAGCAG	0.502												
SERPINA3	12	broad.mit.edu	37	14	95080911	95080911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:95080911G>A	uc001ydp.3	+	1	292	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	SERPINA3_uc001ydo.4_Missense_Mutation_p.V70M|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.V45M|SERPINA3_uc001yds.3_Missense_Mutation_p.V45M	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	45					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.V45M(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGGACACACGTGGACCTCGG	0.572												
BCL11B	64919	broad.mit.edu	37	14	99642475	99642475	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:99642475G>A	uc001yga.3	-	3	965	c.698C>T	c.(697-699)gCg>gTg	p.A233V	BCL11B_uc001ygb.3_Missense_Mutation_p.A162V	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	233						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAGGAACCACGCGCTGTTGAA	0.617			T	TLX3	T-ALL							
HDC	3067	broad.mit.edu	37	15	50535347	50535347	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr15:50535347C>T	uc001zxz.3	-	10	1577	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	HDC_uc001zxy.3_Missense_Mutation_p.R155H|HDC_uc010uff.2_Missense_Mutation_p.R379H	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	412					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TACCTTTAGACGAAAAACCAC	0.483												
CCP110	9738	broad.mit.edu	37	16	19547973	19547973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:19547973C>T	uc002dgl.4	+	3	1229	c.982C>T	c.(982-984)Cga>Tga	p.R328*	CCP110_uc002dgk.4_Nonsense_Mutation_p.R328*	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	328					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						CATACCTATACGAACTGGCCA	0.373												
CACNG3	10368	broad.mit.edu	37	16	24358110	24358110	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:24358110C>T	uc002dmf.3	+	1	1469	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	89					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.Y89*(2)|p.D88Y(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ATGCTGACTACGAACAGGACA	0.562												
OGFOD1	55239	broad.mit.edu	37	16	56510097	56510097	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:56510097T>C	uc002ejb.3	+	12	1710	c.1609T>C	c.(1609-1611)Tca>Cca	p.S537P	OGFOD1_uc002ejc.3_Missense_Mutation_p.S397P	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA.	537							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGGGACTTTTCATTCATCTA	0.418												
MYH2	4620	broad.mit.edu	37	17	10428349	10428349	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:10428349G>A	uc010coi.3	-	33	4824	c.4696C>T	c.(4696-4698)Cgc>Tgc	p.R1566C	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1566C|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1566					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCTGGATGCGCAGGATCTTT	0.408												
XYLT2	64132	broad.mit.edu	37	17	48433460	48433460	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:48433460G>A	uc002iqo.3	+	6	1429	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	440					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCTTCCACACGGTGCTGGAGA	0.617												
VEZF1	7716	broad.mit.edu	37	17	56060219	56060219	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:56060219T>C	uc002ivf.1	-	1	712	c.569A>G	c.(568-570)aAt>aGt	p.N190S	VEZF1_uc010dcn.1_Missense_Mutation_p.N34S	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	190					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTTGTGTCGATTGAGATGGTA	0.483												
QRICH2	84074	broad.mit.edu	37	17	74276228	74276228	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:74276228C>T	uc002jrd.1	-	11	4316	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H	QRICH2_uc010dgw.1_Missense_Mutation_p.R223H	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1379							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGCTCCAGGCGGTCCAGCTG	0.657												
DSG3	1830	broad.mit.edu	37	18	29038537	29038537	+	Missense_Mutation	SNP	G	G	A	rs137884016	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr18:29038537G>A	uc002kws.3	+	3	455	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	116	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTATAGTCGACCGGGAGGA	0.443												
ALPK2	115701	broad.mit.edu	37	18	56203942	56203942	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr18:56203942C>T	uc002lhj.4	-	4	3691	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	ALPK2_uc002lhk.1_Silent_p.T490T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1159							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCAGATGTCGTAGGCAAAC	0.567												
MAP2K7	5609	broad.mit.edu	37	19	7975352	7975352	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:7975352C>T	uc002mit.3	+	4	527	c.462C>T	c.(460-462)tcC>tcT	p.S154S	MAP2K7_uc002miv.2_Silent_p.S154S|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Silent_p.S29S|MAP2K7_uc010xkb.2_Silent_p.S154S	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	154	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TGCGGCGCTCCGGGAACAAGG	0.632												
MUC16	94025	broad.mit.edu	37	19	9047027	9047027	+	Missense_Mutation	SNP	G	G	A	rs111231164		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:9047027G>A	uc002mkp.3	-	4	34808	c.34604C>T	c.(34603-34605)aCg>aTg	p.T11535M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11537	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7168M(1)|p.T11535M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATAGTTGTCGTTGAAACAGC	0.512												
MRPS12	6183	broad.mit.edu	37	19	39423173	39423173	+	Missense_Mutation	SNP	C	C	T	rs140018981	by1000genomes	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:39423173C>T	uc002okc.3	+	2	560	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.3_Missense_Mutation_p.R84W|MRPS12_uc002oke.3_Missense_Mutation_p.R84W	NM_033362	NP_203527	O15235	RT12_HUMAN	Homo sapiens mitochondrial ribosomal protein S12 (MRPS12), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	84					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTGTCGAGTGCGGCTCAGCAC	0.662												
ZNF546	339327	broad.mit.edu	37	19	40520966	40520969	+	Frame_Shift_Del	DEL	ACTC	ACTC	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:40520966_40520969delACTC	uc002oms.2	+	6	2045_2048	c.1789_1792delACTC	c.(1789-1794)actcaafs	p.T597fs	ZNF546_uc002omt.2_Frame_Shift_Del_p.T571fs	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	597					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(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATAATCTTACTCAACATTTTAA	0.353												
PSG5	5673	broad.mit.edu	37	19	43689122	43689122	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:43689122G>A	uc002ovu.3	-	1	373	c.242C>T	c.(241-243)tCa>tTa	p.S81L	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.S81L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	81	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TACTACATATGATGTAATGTA	0.433												
XRCC1	7515	broad.mit.edu	37	19	44055781	44055781	+	Missense_Mutation	SNP	C	C	T	rs2271980		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:44055781C>T	uc002owt.2	-	9	1261	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	XRCC1_uc010xwp.1_Missense_Mutation_p.V350M	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	381	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCTTACGCACGATGCGGCCT	0.622								Other BER factors				
APOB	338	broad.mit.edu	37	2	21255225	21255225	+	Splice_Site	DEL	C	C	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:21255225delC	uc002red.3	-	10	1480	c.1352_splice	c.e10+1	p.N451_splice		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	451	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAAACTCACTTGTTGACCG	0.537												
GLI2	2736	broad.mit.edu	37	2	121747197	121747197	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:121747197G>A	uc010flp.3	+	12	3737	c.3707G>A	c.(3706-3708)gGc>gAc	p.G1236D	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.G908D|GLI2_uc002tmu.4_Missense_Mutation_p.G891D	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1236					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGTGTCCTGGCATGACTACC	0.652												
POTEF	728378	broad.mit.edu	37	2	130877687	130877687	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:130877687G>C	uc010fmh.2	-	2	802	c.402C>G	c.(400-402)caC>caG	p.H134Q		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	134						cell cortex	ATP binding	p.H134D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCACGGACGTGGTACCTGG	0.592												
FAM123C	205147	broad.mit.edu	37	2	131522112	131522112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:131522112delG	uc021voy.1	+	0	2467	c.2467delG	c.(2467-2469)gggfs	p.G823fs	FAM123C_uc002trw.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmv.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G823fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	823								p.V825fs*16(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAGCAGGAAGGGGGGGTCTC	0.677												
KCNJ3	3760	broad.mit.edu	37	2	155711294	155711294	+	Silent	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:155711294T>C	uc002tyv.1	+	2	1170	c.975T>C	c.(973-975)caT>caC	p.H325H	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	325					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTTGGGGTCATCGTTTTTTTC	0.383												
UPP2	151531	broad.mit.edu	37	2	158971751	158971751	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:158971751G>A	uc002tzo.3	+	4	510	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	UPP2_uc002tzp.3_Missense_Mutation_p.G107R	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	107					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GTACAAAACCGGGCCTGTGCT	0.438												
ITGB6	3694	broad.mit.edu	37	2	160964323	160964323	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:160964323A>G	uc002ubh.2	-	13	2150	c.2135T>C	c.(2134-2136)aTg>aCg	p.M712T	ITGB6_uc010fou.2_Missense_Mutation_p.M712T|ITGB6_uc010zcq.1_Missense_Mutation_p.M670T|ITGB6_uc010fov.1_Missense_Mutation_p.M712T	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	712					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AACCCCTAACATGATCATGGG	0.403												
TTN	7273	broad.mit.edu	37	2	179431071	179431071	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:179431071G>A	uc021vsy.1	-	274	72309	c.72084C>T	c.(72082-72084)tcC>tcT	p.S24028S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S17723S|TTN_uc021vta.1_Silent_p.S17656S|TTN_uc021vtb.1_Silent_p.S17531S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24955	Fibronectin type-III 74.						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)			TTCTTAATTCGGAGTCAAGGT	0.453												
UGT1A1	54658	broad.mit.edu	37	2	234669059	234669059	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:234669059C>T	uc002vuw.3	+						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.S42S|UGT1A1_uc002vvb.3_Silent_p.S42S	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.						bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACTGGCTGAGCATGCTTGGGG	0.577												
UGT1A1	54658	broad.mit.edu	37	2	234669074	234669074	+	Silent	SNP	C	C	T	rs34526305	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:234669074C>T	uc002vuw.3	+						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.I47I|UGT1A1_uc002vvb.3_Silent_p.I47I	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.						bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.I47I(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTGGGGCCATCCAGCAGCTGC	0.567												
BPIFB2	80341	broad.mit.edu	37	20	31606076	31606076	+	Missense_Mutation	SNP	G	G	A	rs147688509	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:31606076G>A	uc002wyj.3	+	7	783	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	197						extracellular region	lipid binding										CCTCAACCCCGTGGGTCCTGA	0.483												
PIGU	128869	broad.mit.edu	37	20	33169458	33169460	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:33169458_33169460delGAA	uc002xas.3	-	9	1143_1145	c.943_945delTTC	c.(943-945)ttcdel	p.F315del	PIGU_uc010zul.2_In_Frame_Del_p.F315del|PIGU_uc002xat.3_In_Frame_Del_p.F295del	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	315					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGATAAACATGAAGAAGATGGGG	0.562												
RBM38	55544	broad.mit.edu	37	20	55968365	55968365	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:55968365C>G	uc010zzj.2	+	2	576	c.392C>G	c.(391-393)cCc>cGc	p.P131R	MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_Intron	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.	131					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CAGCTGCACCCCACCTTGATC	0.597												
KRTAP19-4	337971	broad.mit.edu	37	21	31869311	31869311	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr21:31869311C>T	uc011acz.2	-	0	118	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	Homo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA.	40						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCCAAAGCCACAGCCATAA	0.527												
COL7A1	1294	broad.mit.edu	37	3	48629808	48629808	+	Missense_Mutation	SNP	G	G	A	rs146041612		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:48629808G>A	uc003ctz.2	-	7	1070	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	357	Fibronectin type-III 2.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATGTCACACGGTAGCCAGTG	0.637												
IFT57	55081	broad.mit.edu	37	3	107938379	107938379	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:107938379A>T	uc021xcc.1	-	1	399	c.346T>A	c.(346-348)Tac>Aac	p.Y116N	IFT57_uc003dwx.4_Missense_Mutation_p.Y85N	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	85					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CAAAACATGTAGAACTGTTCG	0.408												
COL6A6	131873	broad.mit.edu	37	3	130354555	130354555	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:130354555G>A	uc010htl.3	+	26	5072	c.5041G>A	c.(5041-5043)Gac>Aac	p.D1681N	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1681	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGATTGGGGACCCTGGTGG	0.373												
FRAS1	80144	broad.mit.edu	37	4	79399128	79399128	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:79399128G>A	uc003hlb.2	+	54	8451	c.8011G>A	c.(8011-8013)Gag>Aag	p.E2671K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2666	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAACGATACCGAGGATGAACC	0.458												
NR3C2	4306	broad.mit.edu	37	4	149073647	149073647	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:149073647T>C	uc003ilj.4	-	5	2846	c.2483A>G	c.(2482-2484)tAt>tGt	p.Y828C	NR3C2_uc003ilk.4_Missense_Mutation_p.Y711C|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	828	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGGTGCAAAATAGAGAAATTG	0.358												
ADAM29	11086	broad.mit.edu	37	4	175897719	175897719	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:175897719G>A	uc003iuc.3	+	4	1713	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H	ADAM29_uc003iud.3_Missense_Mutation_p.R348H|ADAM29_uc010irr.3_Missense_Mutation_p.R348H|ADAM29_uc011cki.2_Missense_Mutation_p.R348H|ADAM29_uc021xuo.1_Missense_Mutation_p.R348H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	348	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)		GATACATGTCGTTGTTCACAA	0.373												
ZRSR1	6728	broad.mit.edu	37	5	112227799	112227799	+	Missense_Mutation	SNP	A	A	G	rs712665	by1000genomes	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:112227799A>G	uc021ycm.1	+	0	491	c.463A>G	c.(463-465)Agt>Ggt	p.S155G	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						TTTAGAAAATAGTACCACATG	0.433												
KIF3A	11127	broad.mit.edu	37	5	132038627	132038627	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:132038627C>A	uc011cxf.2	-	12	1751	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	KIF3A_uc003kxm.3_Nonsense_Mutation_p.E88*|KIF3A_uc003kxn.3_Nonsense_Mutation_p.E491*|KIF3A_uc003kxo.3_Nonsense_Mutation_p.E506*|KIF3A_uc003kxp.3_Nonsense_Mutation_p.E509*	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	506					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTCCTTTCTTCCAGTTCC	0.408												
SPOCK1	6695	broad.mit.edu	37	5	136324273	136324273	+	Silent	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:136324273A>G	uc003lbo.3	-	6	957	c.766T>C	c.(766-768)Ttg>Ctg	p.L256L	SPOCK1_uc003lbp.3_Silent_p.L256L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	256					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCATGTCCAACTTGTTGAAC	0.498												
ETF1	2107	broad.mit.edu	37	5	137848498	137848498	+	Silent	SNP	G	G	T	rs145474099	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:137848498G>T	uc003ldc.4	-	5	852	c.687C>A	c.(685-687)tcC>tcA	p.S229S	ETF1_uc011cyv.2_Silent_p.S215S|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Silent_p.S196S|ETF1_uc010jey.1_Silent_p.S35S	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	229					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAAAGTCAGCGGATCCAGCTA	0.403												
PCDHAC2	56146	broad.mit.edu	37	5	140176802	140176802	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:140176802G>A	uc003lhd.2	+	0	2359	c.2253G>A	c.(2251-2253)tcG>tcA	p.S751S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S751S|PCDHAC2_uc011czy.2_Silent_p.S751S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	788					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)			GGTCTTACTCGCAGCAGAGGC	0.672												
ARAP3	64411	broad.mit.edu	37	5	141041288	141041288	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:141041288G>A	uc003llm.3	-	20	3160	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.R690C|ARAP3_uc003lln.3_Missense_Mutation_p.R859C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1028	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGTGTGCGGCGGTTGACCCGC	0.557												
ZNF165	7718	broad.mit.edu	37	6	28053436	28053436	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:28053436T>C	uc021yro.1	+	1	1005	c.178T>C	c.(178-180)Tct>Cct	p.S60P	ZNF165_uc003nkh.3_Missense_Mutation_p.S60P|ZNF165_uc003nki.4_Missense_Mutation_p.S60P	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	60					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTACCAGGATTCTCCTGGACC	0.537												
ITPR3	3710	broad.mit.edu	37	6	33653482	33653482	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:33653482C>T	uc021ywr.1	+	40	5769	c.5545C>T	c.(5545-5547)Cgc>Tgc	p.R1849C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1849					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.R1849C(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCCCAGCCTGCGCCGGGGGCA	0.662												
SNAP91	9892	broad.mit.edu	37	6	84292053	84292053	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:84292053C>T	uc021zcf.1	-	21	2067	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	SNAP91_uc011dzd.2_Silent_p.A182A|SNAP91_uc003pka.3_Silent_p.A677A|SNAP91_uc011dze.2_Silent_p.A677A|SNAP91_uc003pkc.3_Silent_p.A649A|SNAP91_uc003pkd.3_Silent_p.A372A|SNAP91_uc003pkb.3_Silent_p.A588A	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	679					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATGGGGAAGGCGCCATGAAAG	0.433												
PM20D2	135293	broad.mit.edu	37	6	89868090	89868090	+	Missense_Mutation	SNP	A	A	G	rs141826904	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:89868090A>G	uc003pmz.3	+	4	1054	c.959A>G	c.(958-960)aAt>aGt	p.N320S		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	320							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GTTCTTCCCAATAAGAGCCTA	0.318												
SIM1	6492	broad.mit.edu	37	6	100841583	100841583	+	Silent	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:100841583C>T	uc003pqj.4	-	9	1817	c.1350G>A	c.(1348-1350)gcG>gcA	p.A450A	SIM1_uc021zdg.1_Silent_p.A450A|SIM1_uc010kcu.3_Silent_p.A450A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	450	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGTGGTCAAGCGCAAAGCCAT	0.622												
BCLAF1	9774	broad.mit.edu	37	6	136599630	136599630	+	Missense_Mutation	SNP	C	C	T	rs147614051		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:136599630C>T	uc003qgx.1	-	3	642	c.389G>A	c.(388-390)cGc>cAc	p.R130H	BCLAF1_uc003qgy.1_Missense_Mutation_p.R128H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R128H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R130H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	130					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATATGACCGGCGAGATCTGCT	0.458												
OPRM1	4988	broad.mit.edu	37	6	154412347	154412347	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:154412347G>A	uc011efe.2	+	4	1706	c.1183G>A	c.(1183-1185)Gtc>Atc	p.V395I	OPRM1_uc011efd.2_Missense_Mutation_p.V202I|OPRM1_uc011efc.1_Missense_Mutation_p.V221I|OPRM1_uc003qpn.2_Missense_Mutation_p.V302I|OPRM1_uc003qpo.1_Missense_Mutation_p.V302I|OPRM1_uc011eff.1_Missense_Mutation_p.V302I|OPRM1_uc011efg.1_Missense_Mutation_p.V302I|OPRM1_uc011efi.2_Missense_Mutation_p.V302I|OPRM1_uc011efh.1_Missense_Mutation_p.V302I|OPRM1_uc003qpq.1_Missense_Mutation_p.V302I|OPRM1_uc003qpr.2_Missense_Mutation_p.V302I|OPRM1_uc003qpt.1_Missense_Mutation_p.V302I|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.V202I|OPRM1_uc003qpu.2_Missense_Mutation_p.V202I	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	302					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCACATTTACGTCATCATTAA	0.483												
SDK1	221935	broad.mit.edu	37	7	4011107	4011107	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:4011107C>A	uc003smx.3	+	11	1863	c.1724C>A	c.(1723-1725)tCc>tAc	p.S575Y		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	575	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GATCGGACGTCCATCGTCCAC	0.552												
IKZF1	10320	broad.mit.edu	37	7	50468038	50468038	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:50468038G>A	uc003tow.4	+	7	1428	c.1273G>A	c.(1273-1275)Ggg>Agg	p.G425R	IKZF1_uc022acq.1_Missense_Mutation_p.G282R|IKZF1_uc003tpa.4_Missense_Mutation_p.G190R|IKZF1_uc022acr.1_Missense_Mutation_p.G200R|IKZF1_uc022acs.1_Missense_Mutation_p.G155R|IKZF1_uc022act.1_Missense_Mutation_p.G328R|IKZF1_uc022acu.1_Missense_Mutation_p.G338R|IKZF1_uc003tox.4_Missense_Mutation_p.G383R|IKZF1_uc022acv.1_Missense_Mutation_p.G286R|IKZF1_uc022acw.1_Missense_Mutation_p.G296R|IKZF1_uc022acx.1_Missense_Mutation_p.G338R|IKZF1_uc022acy.1_Missense_Mutation_p.G232R|IKZF1_uc022acz.1_Missense_Mutation_p.G242R|IKZF1_uc011kck.2_Missense_Mutation_p.G338R|IKZF1_uc003toy.4_Missense_Mutation_p.G383R|IKZF1_uc003toz.4_Missense_Mutation_p.G395R|IKZF1_uc010kyx.3_Missense_Mutation_p.G165R	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	425				PHARNGL -> RRAQRV (in Ref. 2; AAB50683).	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCGCGCAACGGGCTGTCGCT	0.677			"""D,T"""	BCL6	"""ALL, DLBCL"""							
VSTM2A	222008	broad.mit.edu	37	7	54636702	54636702	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:54636702G>C	uc010kzf.3	+	5	1040	c.635_splice	c.e5-1	p.G212_splice	AB074160_uc022adl.1_Intron|AB074160_uc003tqd.3_5'Flank	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	212						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TCTTCCGCAGGTGCGAGGATA	0.383												
CALCR	799	broad.mit.edu	37	7	93106887	93106887	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:93106887G>A	uc003umv.2	-	5	653	c.353C>T	c.(352-354)cCg>cTg	p.P118L	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P100L|CALCR_uc003umw.2_Missense_Mutation_p.P100L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	100					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATCAAAATCCGGAAAATAATC	0.413												
ZAN	7455	broad.mit.edu	37	7	100357434	100357434	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:100357434G>A	uc003uwj.3	+	17	3827	c.3662G>A	c.(3661-3663)aGc>aAc	p.S1221N	ZAN_uc003uwk.3_Missense_Mutation_p.S1221N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1221	VWFD 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGCCCGAGAGCACCGTCACC	0.602												
C7orf58	79974	broad.mit.edu	37	7	120655897	120655897	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:120655897A>G	uc003vjq.4	+	2	875	c.428A>G	c.(427-429)gAa>gGa	p.E143G	C7orf58_uc003vjr.1_Missense_Mutation_p.E143G|C7orf58_uc003vjs.4_Missense_Mutation_p.E143G	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	143						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GGGCTACTAGAACAAGGTCAG	0.423												
JHDM1D	80853	broad.mit.edu	37	7	139826573	139826573	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:139826573A>T	uc003vvm.3	-	5	756	c.752T>A	c.(751-753)gTg>gAg	p.V251E		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	251	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAATTTTCCACCCAGGAAAG	0.378												
PRSS3P2	154754	broad.mit.edu	37	7	142482278	142482278	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:142482278T>C	uc011ksq.2	+	4	741	c.658T>C	c.(658-660)Tgt>Cgt	p.C220R	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		GGGCTATGGCTGTGCCCAGAA	0.517												
GSTK1	373156	broad.mit.edu	37	7	142964771	142964771	+	Missense_Mutation	SNP	C	C	T	rs41275042	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:142964771C>T	uc003wci.3	+	5	567	c.482C>T	c.(481-483)aCg>aTg	p.T161M	GSTK1_uc011ksy.2_Missense_Mutation_p.T118M|GSTK1_uc003wcj.3_Missense_Mutation_p.T217M|GSTK1_uc011ksz.2_Missense_Mutation_p.T149M	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	Homo sapiens glutathione S-transferase kappa 1 (GSTK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AAGATCGCAACGCCAAAGGTG	0.512												
NOBOX	135935	broad.mit.edu	37	7	144098495	144098495	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:144098495C>T	uc022aoj.1	-	3	488	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	163					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCCCTGGAGCGGGGGGGCGG	0.627												
AGAP3	116988	broad.mit.edu	37	7	150840441	150840441	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:150840441C>T	uc003wjg.1	+	16	2290	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	AGAP3_uc003wje.1_Missense_Mutation_p.R432C|AGAP3_uc003wjj.1_Missense_Mutation_p.R262C|AGAP3_uc003wjk.1_Missense_Mutation_p.R181C	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	727					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.R763C(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAGAAGGAACGCTGGATACG	0.617												
RBM33	155435	broad.mit.edu	37	7	155538204	155538204	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:155538204G>T	uc010lqk.1	+	13	3255	c.2887G>T	c.(2887-2889)Gtg>Ttg	p.V963L	RBM33_uc011kvv.1_Missense_Mutation_p.V772L|RBM33_uc003wmg.2_5'Flank	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	963							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAAGCCTGGCGTGAAAAGGAC	0.602												
RB1CC1	9821	broad.mit.edu	37	8	53571454	53571454	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr8:53571454G>A	uc003xre.4	-	12	2330	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	RB1CC1_uc003xrf.4_Missense_Mutation_p.S591L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	591					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTGAACTTCCGAAGGACAAAA	0.323												
KIAA2022	340533	broad.mit.edu	37	X	73963609	73963609	+	Silent	SNP	G	G	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:73963609G>A	uc004eby.3	-	2	1400	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	261					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAAAAGTCTCGAAGTAACCCC	0.393												
NRK	203447	broad.mit.edu	37	X	105152945	105152945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:105152945C>T	uc004emd.3	+	12	1615	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	NRK_uc010npc.1_Nonsense_Mutation_p.R106*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	438	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCACCTCAACGACTACAAGG	0.557										HNSCC(51;0.14)		
SH2D1A	4068	broad.mit.edu	37	X	123504148	123504149	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:123504148_123504149insA	uc004euf.4	+	2	685_686	c.324_325insA	c.(322-327)gctagafs	p.A108fs	SH2D1A_uc004euh.4_Frame_Shift_Ins_p.A108fs|SH2D1A_uc004eug.4_Non-coding_Transcript|SH2D1A_uc010nqw.3_Non-coding_Transcript|SH2D1A_uc004eui.4_Non-coding_Transcript|SH2D1A_uc010nqx.3_Non-coding_Transcript	NM_002351	NP_002342	O60880	SH21A_HUMAN	Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.	108					cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGTCCTCAGCTAGAAGTACACA	0.371												
