Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
URGCP	55665	broad.mit.edu	37	7	43918082	43918082	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:43918082A>C	uc003tiw.3	-	5	1037	c.980T>G	c.(979-981)aTt>aGt	p.I327S	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.I284S|URGCP_uc003tiv.3_Missense_Mutation_p.I252S|URGCP_uc003tix.3_Missense_Mutation_p.I318S|URGCP_uc003tiy.3_Missense_Mutation_p.I284S|URGCP_uc003tiz.3_Missense_Mutation_p.I284S|URGCP_uc011kbj.2_Missense_Mutation_p.I284S	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	327					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCTGGGAAAATGTCCAAGTC	0.512000														75			23		0	0	0.014323	0	0
LPHN2	23266	broad.mit.edu	37	1	82456455	82456455	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:82456455C>G	uc001dit.4	+	20	4019	c.3838C>G	c.(3838-3840)Ctg>Gtg	p.L1280V	LPHN2_uc001dis.3_Missense_Mutation_p.L260V|LPHN2_uc001diu.3_Missense_Mutation_p.L1280V|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.L907V	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1336					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCACTCCCTTCTGTACCAACC	0.527000														102			39		0	0	0.006999	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602635	138602635	+	Silent	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:138602635C>T	uc011kql.2	-	1	1786	c.1737G>A	c.(1735-1737)ccG>ccA	p.P579P	KIAA1549_uc011kqj.2_Silent_p.P579P	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	579	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGGCAAGCGACGGTGTGTTTT	0.478000			O	BRAF	pilocytic astrocytoma									11			4		0	0	0.009096	0	0
BAI2	576	broad.mit.edu	37	1	32207416	32207416	+	Nonsense_Mutation	SNP	C	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:32207416C>A	uc001btn.3	-	8	1924	c.1570G>T	c.(1570-1572)Gag>Tag	p.E524*	BAI2_uc010ogo.2_Nonsense_Mutation_p.E166*|BAI2_uc010ogp.2_Nonsense_Mutation_p.E457*|BAI2_uc010ogq.2_Nonsense_Mutation_p.E524*|BAI2_uc001bto.3_Nonsense_Mutation_p.E524*|BAI2_uc001btq.1_Nonsense_Mutation_p.E457*|BAI2_uc010ogr.1_Nonsense_Mutation_p.E457*	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	524	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CACCTCTTCTCACTACAAGGC	0.652000														80			13		6.81908e-15	8.56543e-15	0.002450	1	0
TBC1D2	55357	broad.mit.edu	37	9	100983362	100983362	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr9:100983362A>C	uc011lvb.2	-	5	1307	c.1127T>G	c.(1126-1128)gTg>gGg	p.V376G	TBC1D2_uc004ayq.3_Missense_Mutation_p.V376G|TBC1D2_uc004ayr.3_Missense_Mutation_p.V158G	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	376	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAGGGCCTCCACCCGCCGGCC	0.697000														12			6		0	0	0.006214	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135754263	135754263	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chrX:135754263G>C	uc004fab.3	-	19	2513	c.2051C>G	c.(2050-2052)tCc>tGc	p.S684C	ARHGEF6_uc011mwd.2_Missense_Mutation_p.S557C|ARHGEF6_uc011mwe.2_Missense_Mutation_p.S530C	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	684					JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTGTGGAATGGAATCTTTTCG	0.448000														84			4		0	0	0.009096	0	0
TAF1B	9014	broad.mit.edu	37	2	10016047	10016047	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:10016047G>C	uc002qzz.3	+	6	707	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	TAF1B_uc010exc.2_Missense_Mutation_p.E203Q|TAF1B_uc002qzy.4_Missense_Mutation_p.E203Q|TAF1B_uc010yja.2_Intron|TAF1B_uc010exd.3_Intron	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	203					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACAACGAAAGGAGAAGGGAAT	0.408000														130			33		0	0	0.003755	0	0
PTPRS	5802	broad.mit.edu	37	19	5231542	5231542	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr19:5231542T>A	uc002mbv.3	-	13	2168	c.1934A>T	c.(1933-1935)gAa>gTa	p.E645V	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Missense_Mutation_p.E632V|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	645	Fibronectin type-III 4.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTTGTGCGTTTCCGGCGGCGG	0.662000														24			6		0	0	0.001984	0	0
CNTN1	1272	broad.mit.edu	37	12	41327590	41327590	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr12:41327590A>C	uc001rmm.1	+	8	1008	c.895A>C	c.(895-897)Aat>Cat	p.N299H	CNTN1_uc009zjy.2_Missense_Mutation_p.N299H|CNTN1_uc001rmn.1_Missense_Mutation_p.N288H|CNTN1_uc001rmo.3_Missense_Mutation_p.N299H	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	299	Ig-like C2-type 3.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAAGATCTTCAATATTCAGCT	0.408000														50			11		0	0	0.013537	0	0
FAM54B	56181	broad.mit.edu	37	1	26149567	26149567	+	Silent	SNP	T	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:26149567T>A	uc010oet.2	+	1	182	c.48T>A	c.(46-48)ccT>ccA	p.P16P	FAM54B_uc001bkq.4_5'UTR|FAM54B_uc001bkr.4_5'UTR|FAM54B_uc009vrz.3_5'UTR|LOC646471_uc010oeu.1_Non-coding_Transcript|FAM54B_uc001bks.4_5'UTR|FAM54B_uc001bkt.4_5'UTR|FAM54B_uc001bku.4_5'UTR|FAM54B_uc001bkv.4_5'Flank			Q9H019	FA54B_HUMAN	Homo sapiens family with sequence similarity 54, member B (FAM54B), transcript variant 2, mRNA.	0										endometrium(2)|kidney(2)|large_intestine(2)|pancreas(1)|prostate(1)	8		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGGCTGCCTTGTCCTTCAA	0.587000														96			16		0	0	0.007413	0	0
SLC28A2	9153	broad.mit.edu	37	15	45561728	45561728	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr15:45561728A>C	uc001zva.2	+	13	1626	c.1561A>C	c.(1561-1563)Att>Ctt	p.I521L		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	521					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GAAACAGTGGATTTCTGTAAG	0.433000														28			6		0	0	0.001168	0	0
MYO18B	84700	broad.mit.edu	37	22	26423002	26423002	+	Silent	SNP	C	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr22:26423002C>G	uc003abz.1	+	42	7312	c.7062C>G	c.(7060-7062)ctC>ctG	p.L2354L	MYO18B_uc003aca.1_Silent_p.L2235L|MYO18B_uc010guy.1_Silent_p.L2236L|MYO18B_uc010guz.1_Silent_p.L2234L|MYO18B_uc011aka.1_Silent_p.L1508L|MYO18B_uc011akb.1_Silent_p.L1867L|MYO18B_uc010gva.1_Silent_p.L337L|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2354						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.E2353K(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCGAGTCCCTCTTAGAATCCA	0.572000														132			41		0	0	0.011902	0	0
STAT6	6778	broad.mit.edu	37	12	57499083	57499083	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr12:57499083C>A	uc009zpg.3	-	8	1001	c.999G>T	c.(997-999)aaG>aaT	p.K333N	STAT6_uc009zpe.3_Missense_Mutation_p.K284N|STAT6_uc001sna.3_Missense_Mutation_p.K284N|STAT6_uc009zpf.3_Missense_Mutation_p.K284N|STAT6_uc010srb.2_Missense_Mutation_p.K174N|STAT6_uc010src.2_Missense_Mutation_p.K174N|STAT6_uc010srd.2_Missense_Mutation_p.K174N	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	284					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TGGTCTGAGTCTTCAGTACCT	0.632000														72			14		2.48551e-13	3.0477e-13	0.004990	1	0
GAN	8139	broad.mit.edu	37	16	81411103	81411103	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr16:81411103C>T	uc002fgo.3	+	10	1844	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	566					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				ATCCGACCTTCGCCGTACAGG	0.493000														261			43		0	0	0.014410	0	0
LAMA5	3911	broad.mit.edu	37	20	60901783	60901783	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr20:60901783C>T	uc002ycq.3	-	39	5315	c.5248G>A	c.(5248-5250)Gca>Aca	p.A1750T	LAMA5_uc021wfw.1_Missense_Mutation_p.A1750T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1750	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.A1750T(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGGGGTATGCCGGCTCCAGG	0.667000														62			4		0	0	0.009096	0	0
C1orf51	148523	broad.mit.edu	37	1	150259000	150259000	+	Silent	SNP	T	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:150259000T>A	uc001euj.3	+	4	1241	c.792T>A	c.(790-792)acT>acA	p.T264T	C1orf51_uc001euh.3_Silent_p.T264T|C1orf51_uc001eui.3_Silent_p.T176T	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	264										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCACACCACTCCAATTTGCA	0.522000														130			33		0	0	0.012213	0	0
MTFMT	123263	broad.mit.edu	37	15	65295424	65295424	+	Silent	SNP	A	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr15:65295424A>C	uc002aof.4	-	8	1172	c.1146T>G	c.(1144-1146)gtT>gtG	p.V382V		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	382						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	GTTGCATAGCAACAGTTTTTT	0.348000														38			7		0	0	0.003080	0	0
KRT9	3857	broad.mit.edu	37	17	39726126	39726126	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:39726126C>A	uc002hxe.4	-	2	933	c.867G>T	c.(865-867)aaG>aaT	p.K289N	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	289	Coil 1B.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.K289N(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				TATGATTCTTCTTGAGGGCCA	0.537000														187			47		4.17328e-34	5.44112e-34	0.014410	1	0
KIAA0895	23366	broad.mit.edu	37	7	36396613	36396613	+	Silent	SNP	G	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:36396613G>A	uc003tfd.2	-	2	816	c.765C>T	c.(763-765)ttC>ttT	p.F255F	KIAA0895_uc003tfc.2_Silent_p.F242F|KIAA0895_uc011kax.1_Silent_p.F204F|KIAA0895_uc003tfb.2_Silent_p.F204F|KIAA0895_uc011kaw.2_Silent_p.F104F|KIAA0895_uc003tfe.3_Silent_p.F242F|KIAA0895_uc011kay.2_Silent_p.F204F	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	255										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGTCAGATTTGAAGAATCTCA	0.393000														65			10		0	0	0.008291	0	0
PTPRC	5788	broad.mit.edu	37	1	198704382	198704382	+	Splice_Site	SNP	G	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:198704382G>A	uc001gur.1	+	23	2577	c.2397_splice	c.e23+1	p.N799_splice	PTPRC_uc001gut.1_Splice_Site_p.N638_splice	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	799	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CATTGTAAATGTGAGTTTGCT	0.274000														29			4		0	0	0.009096	0	0
SETD5	55209	broad.mit.edu	37	3	9512542	9512542	+	Silent	SNP	T	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr3:9512542T>C	uc003brt.3	+	18	3559	c.3124T>C	c.(3124-3126)Ttg>Ctg	p.L1042L	SETD5_uc003bru.3_Silent_p.L944L|SETD5_uc003brv.3_Silent_p.L931L|SETD5_uc010hck.3_Silent_p.L524L|SETD5_uc003brx.3_Silent_p.L711L	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1042										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TCGTGGATCCTTGTCACCTGG	0.478000														19			4		0	0	0.009096	0	0
BAI2	576	broad.mit.edu	37	1	32221746	32221746	+	Missense_Mutation	SNP	G	C	C	rs149675901		TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:32221746G>C	uc001btn.3	-	3	1046	c.692C>G	c.(691-693)gCc>gGc	p.A231G	BAI2_uc010ogp.2_Missense_Mutation_p.A219G|BAI2_uc010ogq.2_Missense_Mutation_p.A231G|BAI2_uc001bto.3_Missense_Mutation_p.A231G|BAI2_uc001btq.1_Missense_Mutation_p.A219G|BAI2_uc010ogr.1_Missense_Mutation_p.A219G	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	231					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A231G(4)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGTGGAGCCGGCCCCCGCCTC	0.711000														34			5		0	0	0.004007	0	0
ATXN1	6310	broad.mit.edu	37	6	16327407	16327407	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:16327407G>A	uc003nbt.3	-	7	2106	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	ATXN1_uc010jpi.3_Missense_Mutation_p.R379W|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	379					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association	p.R379L(1)|p.V378I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				ACAGAGGCCCGGACCCCCGAA	0.637000														157			51		0	0	0.014410	0	0
SLC36A2	153201	broad.mit.edu	37	5	150701645	150701645	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:150701645A>T	uc003lty.3	-	8	1272	c.1142T>A	c.(1141-1143)cTg>cAg	p.L381Q	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.L183Q|SLC36A2_uc010jhv.2_Missense_Mutation_p.L381Q	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	381					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGACAGATCCAGAGGCAGTGC	0.542000														96			27		0	0	0.006320	0	0
C1orf111	284680	broad.mit.edu	37	1	162344114	162344114	+	Silent	SNP	T	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:162344114T>C	uc001gbx.2	-	2	574	c.510A>G	c.(508-510)ctA>ctG	p.L170L		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA.	170										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TGGAAGCCATTAGGATGTCCT	0.567000														229			44		0	0	0.014410	0	0
KIF5C	3800	broad.mit.edu	37	2	149835496	149835496	+	Nonsense_Mutation	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:149835496C>T	uc010zbu.2	+	12	1749	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twt.3_Nonsense_Mutation_p.Q4*	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	452					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GATGTTGGATCAGGATGAGGT	0.353000														38			13		0	0	0.004007	0	0
LPA	4018	broad.mit.edu	37	6	161027563	161027563	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:161027563C>T	uc003qtl.3	-	17	2851	c.2731G>A	c.(2731-2733)Gtc>Atc	p.V911I		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3419	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGAGGCGCGACGGCAGTCCCT	0.547000														163			7		0	0	0.003080	0	0
VPS41	27072	broad.mit.edu	37	7	38783049	38783049	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:38783049T>A	uc003tgy.3	-	23	2101	c.2075A>T	c.(2074-2076)gAt>gTt	p.D692V	VPS41_uc003tgz.3_Missense_Mutation_p.D667V|VPS41_uc010kxn.3_Missense_Mutation_p.D603V|VPS41_uc003tgx.3_Non-coding_Transcript	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	692					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CAGCTCTCCATCATCTTGCTC	0.398000														90			4		0	0	0.001168	0	0
ABCA8	10351	broad.mit.edu	37	17	66928478	66928478	+	Missense_Mutation	SNP	T	C	C	rs149928780		TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:66928478T>C	uc002jhq.3	-	6	1088	c.748A>G	c.(748-750)Agg>Ggg	p.R250G	ABCA8_uc002jhp.3_Missense_Mutation_p.R250G|ABCA8_uc010wqq.2_Missense_Mutation_p.R250G|ABCA8_uc010wqr.2_Missense_Mutation_p.R189G|ABCA8_uc002jhr.3_Missense_Mutation_p.R250G|ABCA8_uc002jhs.3_Missense_Mutation_p.R250G|ABCA8_uc002jht.3_Missense_Mutation_p.R250G	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	250						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCTTCATCCTTTTCCTCTCT	0.393000														61			3		0	0	0.000602	0	0
TRAV39	28642	broad.mit.edu	37	14	22772431	22772431	+	Silent	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr14:22772431C>T	uc010ajq.1	+	1	387	c.324C>T	c.(322-324)gcC>gcT	p.A108A	TCRA_uc001wbw.2_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron					Homo sapiens mRNA for T cell receptor alpha variable 39, partial cds, clone: SEB 374.																		ACTTCTGTGCCGTGGACACAC	0.582000														15			5		0	0	0.000602	0	0
ABCG2	9429	broad.mit.edu	37	4	89042889	89042889	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr4:89042889A>C	uc003hrg.3	-	5	1080	c.587T>G	c.(586-588)aTa>aGa	p.I196R	ABCG2_uc003hrh.3_Missense_Mutation_p.I196R|ABCG2_uc003hrf.3_Missense_Mutation_p.I66R	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	196	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CTCCATTCCTATACTAGTCCT	0.398000														50			10		0	0	0.008291	0	0
NFKBIA	4792	broad.mit.edu	37	14	35871629	35871629	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr14:35871629A>T	uc001wtf.4	-	4	987	c.877T>A	c.(877-879)Tca>Aca	p.S293T		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	293					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GTGAACTCTGACTCTGTGTCA	0.562000														103			22		0	0	0.014323	0	0
CXADRP2	646243	broad.mit.edu	37	15	22016186	22016186	+	Silent	SNP	C	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr15:22016186C>G	uc010tzk.1	-	0	693	c.531G>C	c.(529-531)ctG>ctC	p.L177L						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		CCAGAGTACTCAGAAGAAGCA	0.418000														63			5		0	0	0.001168	0	0
ATP10A	57194	broad.mit.edu	37	15	25953155	25953155	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr15:25953155G>A	uc010ayu.3	-	11	2649	c.2543C>T	c.(2542-2544)gCc>gTc	p.A848V		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	848					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAGGCGAATGGCAGACTGGAA	0.537000														43			3		0	0	0.004672	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567881	45567881	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr12:45567881G>T	uc001rom.2	-	2	805	c.268C>A	c.(268-270)Cca>Aca	p.P90T						Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA.											breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTATGAATTGGTATAATAGGA	0.413000														67			20		2.4624e-09	2.91525e-09	0.008871	1	0
TSGA10	80705	broad.mit.edu	37	2	99720473	99720473	+	Nonsense_Mutation	SNP	C	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:99720473C>A	uc002szg.4	-	7	1196	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	TSGA10_uc002szh.4_Nonsense_Mutation_p.E190*|TSGA10_uc002szi.4_Nonsense_Mutation_p.E190*|TSGA10_uc010fin.1_Nonsense_Mutation_p.E190*|TSGA10_uc010yvn.1_Nonsense_Mutation_p.E190*	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	190					spermatogenesis	cytoplasm|nuclear membrane		p.T189T(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGTTCACTTTCGGTATCCATT	0.348000														81			12		1.08611e-07	1.24299e-07	0.010729	1	0
HSDL1	83693	broad.mit.edu	37	16	84158328	84158328	+	Silent	SNP	A	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr16:84158328A>C	uc002fhk.2	-	5	1084	c.900T>G	c.(898-900)ctT>ctG	p.L300L	HSDL1_uc010vnv.1_Silent_p.L245L	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA.	300						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						ACTGTGCAAAAAGAAACTAAA	0.433000														45			11		0	0	0.008291	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867621	7867621	+	Silent	SNP	A	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:7867621A>G	uc003jeb.3	-	1	748	c.576T>C	c.(574-576)ccT>ccC	p.P192P	FASTKD3_uc011cmp.2_Intron|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	192					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTACTTTGAGGATCCACAT	0.443000														129			20		0	0	0.012319	0	0
ZNF681	148213	broad.mit.edu	37	19	23926507	23926507	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr19:23926507C>G	uc002nrk.4	-	3	1987	c.1845G>C	c.(1843-1845)gaG>gaC	p.E615D	ZNF681_uc002nrl.4_Missense_Mutation_p.E546D|ZNF681_uc002nrj.4_Missense_Mutation_p.E546D	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTAGAGTTTCTCACCAGTAT	0.333000														20			4		0	0	0.009096	0	0
URB2	9816	broad.mit.edu	37	1	229771589	229771589	+	Missense_Mutation	SNP	G	A	A	rs139241970		TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:229771589G>A	uc001hts.1	+	3	1365	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	URB2_uc009xfd.1_Missense_Mutation_p.R410H	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	410						nucleolus		p.R410S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GCCTGGTTCCGCTGTCTGAAG	0.527000														84			4		0	0	0.009096	0	0
CUL3	8452	broad.mit.edu	37	2	225368470	225368470	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:225368470C>A	uc010fwy.1	-	8	1347	c.1294G>T	c.(1294-1296)Gat>Tat	p.D432Y	CUL3_uc010zls.1_Missense_Mutation_p.D360Y|CUL3_uc002vny.2_Missense_Mutation_p.D426Y	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	426					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAAATACATCTTTTTCTTGC	0.294000														13			4		1.024e-07	1.18508e-07	0.000602	1	0
CAPN7	23473	broad.mit.edu	37	3	15262464	15262464	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr3:15262464C>T	uc003bzn.3	+	4	884	c.614C>T	c.(613-615)aCa>aTa	p.T205I		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	205					proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAGAGATACACAGCAGAAGAA	0.363000														45			14		0	0	0.003163	0	0
SLC23A2	9962	broad.mit.edu	37	20	4855238	4855238	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr20:4855238A>T	uc002wlg.1	-	9	1304	c.929T>A	c.(928-930)cTg>cAg	p.L310Q	SLC23A2_uc010zqr.1_Missense_Mutation_p.L195Q|SLC23A2_uc002wlh.1_Missense_Mutation_p.L310Q|SLC23A2_uc002wli.3_Missense_Mutation_p.L309Q	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	310					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CATTTTGAACAGCTGTAACTT	0.383000														128			25		0	0	0.004656	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	A	A	rs145791878	by1000genomes	TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr11:89774252G>A	uc010rua.2	+	7	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	298	B30.2/SPRY.					intracellular	zinc ion binding	p.S298N(6)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323000														57			4		0	0	0.009096	0	0
PPP6R2	9701	broad.mit.edu	37	22	50878437	50878437	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr22:50878437G>T	uc003blb.2	+	21	2755	c.2333G>T	c.(2332-2334)aGc>aTc	p.S778I	PPP6R2_uc003blc.3_Missense_Mutation_p.S778I|PPP6R2_uc003bky.2_Missense_Mutation_p.S752I|PPP6R2_uc003bla.2_Missense_Mutation_p.S752I|PPP6R2_uc003bkz.2_Missense_Mutation_p.S751I|PPP6R2_uc003bld.2_Missense_Mutation_p.S311I	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	778						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACAGAATGCAGCCATGCTGAG	0.642000														42			11		2.27111e-07	2.5706e-07	0.013537	1	0
ABCA13	154664	broad.mit.edu	37	7	48315672	48315672	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:48315672G>A	uc003toq.2	+	16	6433	c.6409G>A	c.(6409-6411)Gat>Aat	p.D2137N	ABCA13_uc010kyr.2_Missense_Mutation_p.D1640N|ABCA13_uc022acp.1_Missense_Mutation_p.D636N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2137					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGCAAATGAGGATTACTCCAG	0.358000														15			3		0	0	0.004672	0	0
PTPRN	5798	broad.mit.edu	37	2	220161767	220161767	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:220161767A>C	uc002vkz.3	-	14	2417	c.2176T>G	c.(2176-2178)Tgt>Ggt	p.C726G	PTPRN_uc010zlc.2_Missense_Mutation_p.C636G|PTPRN_uc002vla.3_Missense_Mutation_p.C697G|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	726	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCGGTGGCACAGGTGTTTGGC	0.637000														47			20		0	0	0.008871	0	0
FAM5C	339479	broad.mit.edu	37	1	190067269	190067269	+	Nonsense_Mutation	SNP	A	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:190067269A>T	uc001gse.1	-	7	2412	c.2180T>A	c.(2179-2181)tTg>tAg	p.L727*	FAM5C_uc010pot.1_Nonsense_Mutation_p.L625*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	727						extracellular region		p.C726C(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					ATGACGAAGCAAGCAAGAGAA	0.463000														101			13		0	0	0.001855	0	0
HAS2	3037	broad.mit.edu	37	8	122641473	122641473	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr8:122641473A>T	uc003yph.2	-	1	646	c.108T>A	c.(106-108)ttT>ttA	p.F36L		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	36						integral to plasma membrane	hyaluronan synthase activity	p.Q35*(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CCGTTTGGATAAACTGGTAGC	0.423000														64			15		0	0	0.003163	0	0
EXOSC7	23016	broad.mit.edu	37	3	45048921	45048921	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr3:45048921C>T	uc003coi.2	+	6	654	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	EXOSC7_uc003coh.1_Missense_Mutation_p.R144W|EXOSC7_uc010his.1_Missense_Mutation_p.R128W	NM_015004	NP_055819	Q15024	EXOS7_HUMAN	Homo sapiens exosome component 7 (EXOSC7), transcript variant 1, mRNA.	209					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|RNA binding|protein binding			endometrium(3)|large_intestine(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064)		GATTGGCTATCGGCATGTGGT	0.612000														18			10		0	0	0.006214	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796705	42796705	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:42796705C>G	uc003osn.1	+	5	785	c.634C>G	c.(634-636)Caa>Gaa	p.Q212E	KIAA0240_uc003osm.1_Missense_Mutation_p.Q212E|KIAA0240_uc011duw.1_Missense_Mutation_p.Q212E|KIAA0240_uc003oso.1_Missense_Mutation_p.Q212E|KIAA0240_uc003osp.1_Missense_Mutation_p.Q212E	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	212								p.Q212*(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			TGGTTCTGGTCAAATACAGTT	0.418000														159			31		0	0	0.012213	0	0
CIITA	4261	broad.mit.edu	37	16	10992818	10992818	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr16:10992818T>C	uc002daj.4	+	4	531	c.398T>C	c.(397-399)aTg>aCg	p.M133T	CIITA_uc002dai.4_Missense_Mutation_p.M132T|CIITA_uc002dak.4_Missense_Mutation_p.M132T|CIITA_uc002dag.2_Missense_Mutation_p.M132T|CIITA_uc002dah.2_Missense_Mutation_p.M133T|CIITA_uc010bup.1_Missense_Mutation_p.M132T	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	132	Asp/Glu-rich (acidic).				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGTGAGAGTATGGAGATGCCA	0.483000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									99			15		0	0	0.002450	0	0
TREX1	11277	broad.mit.edu	37	3	48508760	48508760	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr3:48508760A>T	uc003ctj.3	+	1	2128	c.871A>T	c.(871-873)Aca>Tca	p.T291S	TREX1_uc010hjy.3_Missense_Mutation_p.T236S|TREX1_uc010hjz.3_Missense_Mutation_p.T236S|TREX1_uc003ctk.3_Missense_Mutation_p.T97S|TREX1_uc010hka.3_Missense_Mutation_p.T291S	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	291					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GTATGGGGTCACAGCCTCTGC	0.617000														71			9		0	0	0.008291	0	0
C15orf27	123591	broad.mit.edu	37	15	76484312	76484312	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr15:76484312G>A	uc002bbq.3	+	8	927	c.772G>A	c.(772-774)Gag>Aag	p.E258K	C15orf27_uc010bkp.3_Missense_Mutation_p.E74K|C15orf27_uc002bbr.3_Missense_Mutation_p.E74K|C15orf27_uc002bbs.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	258						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TCCGCAGTTTGAGATCCGGCA	0.741000														29			6		0	0	0.003080	0	0
VPS8	23355	broad.mit.edu	37	3	184700420	184700420	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr3:184700420C>T	uc021xik.1	+	39	3575	c.3487C>T	c.(3487-3489)Cat>Tat	p.H1163Y	VPS8_uc003fpb.1_Missense_Mutation_p.H1161Y|VPS8_uc010hyd.1_Missense_Mutation_p.H1071Y|VPS8_uc010hye.1_Missense_Mutation_p.H590Y	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1163							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AGCCATTCCTCATCTACACTC	0.393000														46			9		0	0	0.010729	0	0
ANPEP	290	broad.mit.edu	37	15	90349269	90349269	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr15:90349269G>C	uc002bop.4	-	1	838	c.546C>G	c.(544-546)ttC>ttG	p.F182L		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	182	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	ACTCCCCCTCGAACTCGCTGT	0.607000														133			5		0	0	0.000602	0	0
TOE1	114034	broad.mit.edu	37	1	45808095	45808095	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:45808095C>G	uc009vxq.3	+	5	1115	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	MUTYH_uc001cnf.3_5'Flank|MUTYH_uc009vxo.3_5'Flank|MUTYH_uc001cng.3_5'Flank|MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Missense_Mutation_p.L98V|TOE1_uc010oln.1_Missense_Mutation_p.L184V|TOE1_uc001cnr.4_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	178						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding	p.F177V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GACCCTATTCCTGGAGCTAAT	0.552000														126			26		0	0	0.003954	0	0
MRPL2	51069	broad.mit.edu	37	6	43023646	43023646	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:43023646A>C	uc003ots.1	-	4	743	c.620T>G	c.(619-621)aTc>aGc	p.I207S	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_3'UTR	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	207					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		TGCAGCTCGGATATATTGGGC	0.567000														27			7		0	0	0.004482	0	0
COL5A1	1289	broad.mit.edu	37	9	137734002	137734002	+	Splice_Site	SNP	G	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr9:137734002G>C	uc004cfe.3	+	66	5753	c.5371_splice	c.e66-1	p.T1791_splice	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1791	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCTTCCCCAGACCAAGAAAG	0.547000														68			10		0	0	0.010729	0	0
NSD1	64324	broad.mit.edu	37	5	176696648	176696648	+	Silent	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:176696648C>T	uc003mfr.4	+	15	5487	c.5349C>T	c.(5347-5349)aaC>aaT	p.N1783N	NSD1_uc003mft.4_Silent_p.N1514N|NSD1_uc003mfs.1_Silent_p.N1680N|NSD1_uc011dfx.2_Silent_p.N1431N	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1783	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TTCCTTCCAACATTGATAAGA	0.488000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				61			13		0	0	0.013537	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653660	46653660	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr22:46653660T>G	uc003bhh.3	-	0	5560	c.5560A>C	c.(5560-5562)Aat>Cat	p.N1854H		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1854					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTAAATCCATTGGTACTCTCA	0.383000														94			29		0	0	0.008361	0	0
PPM1D	8493	broad.mit.edu	37	17	58740446	58740446	+	Nonsense_Mutation	SNP	G	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:58740446G>T	uc002iyt.2	+	5	1583	c.1351G>T	c.(1351-1353)Gag>Tag	p.E451*	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	451					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GAATTTTTTAGAGGTTTCAGC	0.443000											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		89			40		2.05212e-20	2.6421e-20	0.005524	1	0
SPATA9	83890	broad.mit.edu	37	5	94994451	94994451	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:94994451C>G	uc003klj.1	-	4	797	c.641G>C	c.(640-642)aGg>aCg	p.R214T	SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Non-coding_Transcript	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	Homo sapiens spermatogenesis associated 9 (SPATA9), mRNA.	214					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CGGCAATGACCTATAAGGTTT	0.403000														46			9		0	0	0.006214	0	0
ABCC11	85320	broad.mit.edu	37	16	48230229	48230229	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr16:48230229G>A	uc002eff.1	-	16	2668	c.2318C>T	c.(2317-2319)cCg>cTg	p.P773L	ABCC11_uc002efg.1_Missense_Mutation_p.P773L|ABCC11_uc002efh.1_Missense_Mutation_p.P773L|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	773						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTGATGCTCCGGCACTGGGTC	0.542000														43			3		0	0	0.004672	0	0
KRT77	374454	broad.mit.edu	37	12	53097170	53097170	+	Silent	SNP	G	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr12:53097170G>T	uc001saw.3	-	0	78	c.49C>A	c.(49-51)Cgg>Agg	p.R17R	KRT77_uc009zmi.3_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	17	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTATAAACCCGCCTGCTCATT	0.542000														46			16		4.75885e-15	6.05138e-15	0.004990	1	0
CRTC2	200186	broad.mit.edu	37	1	153924520	153924520	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:153924520C>A	uc021pab.1	-	9	1130	c.971G>T	c.(970-972)gGc>gTc	p.G324V	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	324				MGL -> HGP (in Ref. 1; AAQ98857).	interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGGCCCAGGCCCATGCCCCT	0.607000														87			13		1.61879e-10	1.93879e-10	0.013537	1	0
GCN1L1	10985	broad.mit.edu	37	12	120599294	120599294	+	Splice_Site	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr12:120599294C>T	uc001txo.3	-	22	2449	c.2436_splice	c.e22+1	p.E812_splice		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	812					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGTACTCACCTCCTTCAGCT	0.512000														87			8		0	0	0.006214	0	0
COL6A3	1293	broad.mit.edu	37	2	238275884	238275884	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:238275884T>C	uc002vwl.2	-	10	5231	c.4946A>G	c.(4945-4947)aAc>aGc	p.N1649S	COL6A3_uc002vwo.2_Missense_Mutation_p.N1443S|COL6A3_uc010znj.1_Missense_Mutation_p.N1042S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1649	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCTCCTGAAGTTGATGGAACC	0.438000														34			6		0	0	0.001984	0	0
KIAA1109	84162	broad.mit.edu	37	4	123156097	123156097	+	Nonsense_Mutation	SNP	G	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr4:123156097G>T	uc003ieh.3	+	24	3538	c.3493G>T	c.(3493-3495)Gag>Tag	p.E1165*	KIAA1109_uc003iei.1_Nonsense_Mutation_p.E918*|KIAA1109_uc010ins.1_Nonsense_Mutation_p.E508*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1165					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CACAAGTGCAGAGTCTGATAT	0.393000														78			22		2.70639e-06	2.9974e-06	0.014323	1	0
DOCK2	1794	broad.mit.edu	37	5	169463529	169463529	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:169463529A>G	uc003maf.3	+	35	3715	c.3635A>G	c.(3634-3636)aAa>aGa	p.K1212R	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.K704R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1212	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATTTCTACAAAGATAACAAC	0.423000														54			21		0	0	0.012319	0	0
SLC39A9	55334	broad.mit.edu	37	14	69866098	69866098	+	Silent	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr14:69866098C>T	uc001xle.3	+	0	714	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ERH_uc001xlc.2_5'Flank|SLC39A9_uc021rvg.1_Intron|SLC39A9_uc021rvh.1_Intron|SLC39A9_uc001xld.4_Non-coding_Transcript|SLC39A9_uc001xlf.4_Silent_p.F4F|SLC39A9_uc010aqx.3_Silent_p.F4F|SLC39A9_uc001xlg.4_Non-coding_Transcript	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	4					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.F4F(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TGGATGATTTCATCTCCATTA	0.438000														31			12		0	0	0.013537	0	0
RELN	5649	broad.mit.edu	37	7	103629656	103629656	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:103629656C>T	uc022ajr.1	-	0	308	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	RELN_uc022ajq.1_Missense_Mutation_p.G50R|RELN_uc010liz.3_Missense_Mutation_p.G50R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	50	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCCTGCTCCCCATCCCCTTCC	0.642000														78			15		0	0	0.007413	0	0
CLPS	1208	broad.mit.edu	37	6	35765001	35765001	+	Missense_Mutation	SNP	C	G	G	rs140966197	byFrequency	TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:35765001C>G	uc003ole.2	-	0	121	c.65G>C	c.(64-66)cGg>cCg	p.R22P	CLPS_uc021yyz.1_5'UTR|CLPS_uc003olf.2_Missense_Mutation_p.R22P	NM_001832	NP_001823	P04118	COL_HUMAN	Homo sapiens colipase, pancreatic (CLPS), transcript variant 1, mRNA.	22					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region		p.R22R(1)		large_intestine(2)|lung(2)|prostate(1)	5						AATGATCCCCCGGGGGCCAGG	0.587000														107			11		0	0	0.013537	0	0
HTRA1	5654	broad.mit.edu	37	10	124273843	124273843	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr10:124273843A>T	uc001lgj.2	+	8	1539	c.1411A>T	c.(1411-1413)Atc>Ttc	p.I471F		NM_002775	NP_002766	Q92743	HTRA1_HUMAN	Homo sapiens HtrA serine peptidase 1 (HTRA1), mRNA.	471					proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AGATATCATGATCACAGTGAT	0.507000														71			19		0	0	0.007413	0	0
FAM50B	26240	broad.mit.edu	37	6	3850443	3850443	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:3850443C>T	uc003mvu.3	+	1	510	c.398C>T	c.(397-399)gCg>gTg	p.A133V	FAM50B_uc021ykt.1_Missense_Mutation_p.A133V	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	133						nucleus		p.D132D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CAGGCCGACGCGGCCGAGGCC	0.687000														32			5		0	0	0.001984	0	0
THSD7B	80731	broad.mit.edu	37	2	138169186	138169186	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:138169186C>A	uc002tva.1	+	12	2610	c.2610C>A	c.(2608-2610)agC>agA	p.S870R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.S760R	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGGAAAAGCAGAAAGAAGG	0.353000														78			12		7.93312e-07	8.88165e-07	0.002450	1	0
CCDC17	149483	broad.mit.edu	37	1	46086774	46086774	+	Nonsense_Mutation	SNP	G	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:46086774G>T	uc010olt.2	-	10	1550	c.1400C>A	c.(1399-1401)tCa>tAa	p.S467*	CCDC17_uc010ols.2_Nonsense_Mutation_p.S458*|CCDC17_uc001com.4_Nonsense_Mutation_p.S288*|CCDC17_uc001con.4_Non-coding_Transcript|CCDC17_uc009vxz.3_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	Homo sapiens coiled-coil domain containing 17 (CCDC17), transcript variant 1, mRNA.	467										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TACTGATGATGAGGGTGGTAG	0.522000														31			5		1.024e-07	1.18508e-07	0.000602	1	0
ITSN1	6453	broad.mit.edu	37	21	35239577	35239577	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr21:35239577C>A	uc002yta.1	+	32	4383	c.4115C>A	c.(4114-4116)tCt>tAt	p.S1372Y	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.S1367Y|ITSN1_uc002ytj.2_Missense_Mutation_p.S1367Y|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1372	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATGCCACTCTCTAGTTTTATA	0.393000														61			15		5.03518e-11	6.10146e-11	0.007413	1	0
DARS	1615	broad.mit.edu	37	2	136736937	136736937	+	Splice_Site	SNP	C	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:136736937C>A	uc002tux.1	-	3	309	c.125_splice	c.e3-1	p.D42_splice	DARS_uc010fnj.1_Splice_Site	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	42					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	ATP binding|aminoacylase activity|aspartate-tRNA ligase activity|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	AAAACTCGATCTGTAATAACA	0.318000														91			23		7.87624e-14	9.77413e-14	0.002780	1	0
NLE1	54475	broad.mit.edu	37	17	33464163	33464163	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:33464163G>A	uc002hiy.1	-	6	713	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	229						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCCCAGATCCGCACACTGCCA	0.617000														51			3		0	0	0.004672	0	0
CAD	790	broad.mit.edu	37	2	27460276	27460276	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:27460276G>A	uc002rji.3	+	27	4588	c.4426G>A	c.(4426-4428)Gaa>Aaa	p.E1476K	CAD_uc010eyw.3_Missense_Mutation_p.E1413K	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1476	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCACCTGCGGGAACCAGGTGG	0.552000														87			15		0	0	0.006122	0	0
ZBTB43	23099	broad.mit.edu	37	9	129595385	129595385	+	Silent	SNP	G	T	T	rs34266321	byFrequency	TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr9:129595385G>T	uc022bnm.1	+	0	597	c.597G>T	c.(595-597)tcG>tcT	p.S199S	ZBTB43_uc004bql.3_Silent_p.S199S|ZBTB43_uc010mxf.3_Silent_p.S199S	NM_014007	NP_054726	O43298	ZBT43_HUMAN	Homo sapiens zinc finger and BTB domain containing 43 (ZBTB43), transcript variant 1, mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCAGCAACTCGTCCACAGAGC	0.587000														50			5		3.59834e-05	3.94286e-05	0.001168	1	0
ABCA5	23461	broad.mit.edu	37	17	67304486	67304486	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:67304486C>G	uc002jif.2	-	3	1711	c.493G>C	c.(493-495)Gct>Cct	p.A165P	ABCA5_uc002jig.2_Missense_Mutation_p.A165P|ABCA5_uc002jih.2_Missense_Mutation_p.A165P|ABCA5_uc010dfe.2_Missense_Mutation_p.A165P	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	165					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TACTGAGCAGCCTCACATGAT	0.378000														119			20		0	0	0.012319	0	0
SHPRH	257218	broad.mit.edu	37	6	146234630	146234630	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr6:146234630C>G	uc003qlf.3	-	23	4709	c.4310G>C	c.(4309-4311)cGa>cCa	p.R1437P	SHPRH_uc003qle.3_Missense_Mutation_p.R1441P|SHPRH_uc003qlg.1_Missense_Mutation_p.R993P	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1437					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TCCTAGCTGTCGAGCACAGAT	0.308000														52			14		0	0	0.004990	0	0
VAV3	10451	broad.mit.edu	37	1	108507542	108507544	+	Splice_Site	DEL	GCC	-	-	rs71796067		TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													---	4	---	---	2	---					
LOC285103	285103	broad.mit.edu	37	2	130893081	130893081	+	RNA	DEL	A	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:130893081delA	uc021voa.1	+	1		c.540delA								Homo sapiens uncharacterized LOC285103 (LOC285103), non-coding RNA.																		actccatctcaaaaaaaaaaa	0.562													---	4	---	---	2	---					
LCT	3938	broad.mit.edu	37	2	136566494	136566494	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr2:136566494delT	uc002tuu.1	-	7	3434	c.3423delA	c.(3421-3423)gaafs	p.E1141fs		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1141	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTCAGCGGCTTCCACATCTC	0.552													---	140	---	---	21	---					
PCDH18	54510	broad.mit.edu	37	4	138452043	138452043	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr4:138452043delA	uc003ihe.4	-	0	1587	c.1200delT	c.(1198-1200)catfs	p.H400fs	PCDH18_uc003ihf.4_Frame_Shift_Del_p.H393fs|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Frame_Shift_Del_p.H180fs|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	400	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GACCATGTCCATGAAGCTTAC	0.348													---	75	---	---	13	---					
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	GGC	GGC	rs67907220		TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr4:147560457_147560458insGGC	uc003ikv.3	+	0	413_414	c.165_166insGGC	c.(163-168)insGGC	p.68_69insG		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	68	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													---	8	---	---	4	---					
SEC24A	10802	broad.mit.edu	37	5	133997149	133997160	+	In_Frame_Del	DEL	CTCACAAACAAA	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr5:133997149_133997160delCTCACAAACAAA	uc003kzs.3	+	1	730_741	c.438_449delCTCACAAACAAA	c.(436-450)gcctcacaaacaaac>gcc	p.SQTN147del	SEC24A_uc021ydr.1_In_Frame_Del_p.SQTN147del|SEC24A_uc011cxu.2_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	147	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CATCCACAGCCTCACAAACAAACCATTGTCCT	0.415													---	92	---	---	12	---					
ABCA13	154664	broad.mit.edu	37	7	48317816	48317817	+	Frame_Shift_Ins	INS	-	T	T			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:48317816_48317817insT	uc003toq.2	+	17	7049_7050	c.7025_7026insT	c.(7024-7026)agtfs	p.S2342fs		NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2342					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTAATGAAAAGTTCATTTATAT	0.307													---	14	---	---	8	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	Frame_Shift_Del	DEL	AGAGCTCC	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr7:74300557_74300564delAGAGCTCC	uc022afy.1	-	2	316_323	c.243_250delGGAGCTCT	c.(241-252)ctggagctcttcfs	p.L81fs	STAG3L2_uc011kfj.2_Non-coding_Transcript|STAG3L2_uc022afz.1_Non-coding_Transcript			P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.	81	SCD.					nucleus	binding	p.E82fs*32(4)|p.R80C(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													---	6	---	---	3	---					
POLB	5423	broad.mit.edu	37	8	42213041	42213041	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr8:42213041delA	uc003xoz.2	+	6	548	c.378delA	c.(376-378)agafs	p.R126fs	POLB_uc011lcs.2_5'UTR	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	126					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding	p.L125F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CAGATCTCAGAAAAAATGAAG	0.303								DNA polymerases (catalytic subunits)					---	71	---	---	9	---					
PPRC1	23082	broad.mit.edu	37	10	103898442	103898442	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr10:103898442delA	uc001kum.3	+	2	448	c.409delA	c.(409-411)aatfs	p.N137fs	PPRC1_uc001kun.3_Intron|PPRC1_uc010qqj.2_Frame_Shift_Del_p.N137fs|PPRC1_uc009xxa.3_5'Flank	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GATCTTGGACAATGCAGATTC	0.532													---	77	---	---	15	---					
ARAP1	116985	broad.mit.edu	37	11	72399555	72399555	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr11:72399555delT	uc001osu.3	-	30	4204	c.4015delA	c.(4015-4017)attfs	p.I1339fs	ARAP1_uc001osv.3_Frame_Shift_Del_p.I1328fs|ARAP1_uc001osr.3_Frame_Shift_Del_p.I1099fs|ARAP1_uc001oss.3_Frame_Shift_Del_p.I1094fs|ARAP1_uc009yth.3_Frame_Shift_Del_p.I1022fs|ARAP1_uc010rre.2_Frame_Shift_Del_p.I1083fs	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1339	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGACTCTTAATAGGCCACTCC	0.577													---	19	---	---	8	---					
TECTA	7007	broad.mit.edu	37	11	120980039	120980039	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr11:120980039delA	uc010rzo.2	+	2	318	c.318delA	c.(316-318)ggafs	p.G106fs		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	106	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TGCACAATGGAATTCGAGGCG	0.498													---	57	---	---	19	---					
CACNA1G	8913	broad.mit.edu	37	17	48692731	48692732	+	Frame_Shift_Del	DEL	GC	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:48692731_48692732delGC	uc002irk.1	+	26	5141_5142	c.4769_4770delGC	c.(4768-4770)tgcfs	p.C1590fs	CACNA1G_uc002irj.1_Frame_Shift_Del_p.C1556fs|CACNA1G_uc002irl.1_Frame_Shift_Del_p.C1567fs|CACNA1G_uc002irm.1_Frame_Shift_Del_p.C1556fs|CACNA1G_uc002irn.1_Frame_Shift_Del_p.C1549fs|CACNA1G_uc002iro.1_Frame_Shift_Del_p.C1556fs|CACNA1G_uc002irp.1_Frame_Shift_Del_p.C1590fs|CACNA1G_uc002irq.1_Frame_Shift_Del_p.C1567fs|CACNA1G_uc002irr.1_Frame_Shift_Del_p.C1590fs|CACNA1G_uc002irs.1_Frame_Shift_Del_p.C1579fs|CACNA1G_uc002irt.1_Frame_Shift_Del_p.C1572fs|CACNA1G_uc002iru.1_Frame_Shift_Del_p.C1556fs|CACNA1G_uc002irv.1_Frame_Shift_Del_p.C1579fs|CACNA1G_uc002irw.1_Frame_Shift_Del_p.C1567fs|CACNA1G_uc002irx.1_Frame_Shift_Del_p.C1503fs|CACNA1G_uc002iry.1_Frame_Shift_Del_p.C1492fs|CACNA1G_uc002isg.1_Frame_Shift_Del_p.C1451fs|CACNA1G_uc002ish.1_Frame_Shift_Del_p.C1458fs|CACNA1G_uc002isi.1_Frame_Shift_Del_p.C1446fs|CACNA1G_uc002irz.1_Frame_Shift_Del_p.C1503fs|CACNA1G_uc002isa.1_Frame_Shift_Del_p.C1469fs|CACNA1G_uc002isd.1_Frame_Shift_Del_p.C1485fs|CACNA1G_uc002isb.1_Frame_Shift_Del_p.C1510fs|CACNA1G_uc002isc.1_Frame_Shift_Del_p.C1492fs|CACNA1G_uc002ise.1_Frame_Shift_Del_p.C1458fs|CACNA1G_uc002isf.1_Frame_Shift_Del_p.C1485fs	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1590					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCCCAGTGCAAACCTTACT	0.629													---	62	---	---	13	---					
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:76046980delA	uc002jud.2	+	3	2437	c.1837delA	c.(1837-1839)aaafs	p.K613fs	TNRC6C_uc002juf.2_Frame_Shift_Del_p.K613fs|TNRC6C_uc002jue.2_Frame_Shift_Del_p.K613fs	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	613	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													---	167	---	---	7	---					
GAA	2548	broad.mit.edu	37	17	78085893	78085894	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chr17:78085893_78085894delCC	uc002jxp.3	+	11	2115_2116	c.1748_1749delCC	c.(1747-1749)tccfs	p.S583fs	GAA_uc002jxo.3_Frame_Shift_Del_p.S583fs|GAA_uc002jxq.3_Frame_Shift_Del_p.S583fs	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	583					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	p.A582A(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCATCGCCTCCCACAGGTGAG	0.649													---	89	---	---	20	---					
PTCHD1	139411	broad.mit.edu	37	X	23411958	23411959	+	Frame_Shift_Ins	INS	-	G	G			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chrX:23411958_23411959insG	uc004dal.4	+	2	2331_2332	c.2323_2324insG	c.(2323-2325)tttfs	p.F775fs		NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	775					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	p.R775S(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GTTATCCACATTTGTTCTGGGC	0.371													---	25	---	---	19	---					
SMC1A	8243	broad.mit.edu	37	X	53442034	53442036	+	In_Frame_Del	DEL	ATC	-	-			TCGA-A4-7585-01A-11D-2136-08	TCGA-A4-7585-11A-01D-2136-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62550e91-8d87-4feb-a763-bedc2e84cebe	2e2066d9-8dd8-4483-8bd9-67b26cbedc59	g.chrX:53442034_53442036delATC	uc004dsg.3	-	1	261_263	c.192_194delGAT	c.(190-195)ctgatc>ctc	p.I65del	SMC1A_uc011moe.2_In_Frame_Del_p.I43del|SMC1A_uc011mof.2_In_Frame_Del_p.I65del	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	65					DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						AGCTCCATGGATCAGGTCCCGCA	0.552													---	23	---	---	8	---					
