Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SMARCA5	8467	broad.mit.edu	37	4	144449073	144449073	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:144449073C>T	uc003ijg.3	+	6	1316	c.854C>T	c.(853-855)aCa>aTa	p.T285I		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	285	Helicase ATP-binding.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTATGTGTAACATCTTATGAA	0.323000													18	44					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103444627	103444627	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:103444627G>A	uc001dum.3	-	32	2998	c.2680C>T	c.(2680-2682)Cgt>Tgt	p.R894C	COL11A1_uc001duk.3_Missense_Mutation_p.R78C|COL11A1_uc001dul.3_Missense_Mutation_p.R882C|COL11A1_uc001dun.3_Missense_Mutation_p.R843C|COL11A1_uc009weh.3_Missense_Mutation_p.R766C	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	882	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.R894G(2)|p.R882G(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GTTGGACCACGCTGACCCCGA	0.363000													4	49					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795627	96795627	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:96795627C>T	uc010yui.2	-	7	810	c.810G>A	c.(808-810)tcG>tcA	p.S270S		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	270					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGTGATGTCCGAGGCACTCA	0.647000													4	68					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048918	6048918	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:6048918G>C	uc010qzw.2	-	0	54	c.17C>G	c.(16-18)gCg>gGg	p.A6G		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A6V(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGGTGACGCCATAGGCTG	0.488000													31	65					0	0	1	0	0
CHID1	66005	broad.mit.edu	37	11	899384	899384	+	Silent	SNP	G	G	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:899384G>T	uc010qwu.1	-	6	767	c.654C>A	c.(652-654)ggC>ggA	p.G218G	CHID1_uc010qwv.2_Silent_p.G249G|CHID1_uc001lsn.3_Silent_p.G213G|CHID1_uc001lso.3_Silent_p.G188G|CHID1_uc001lsm.3_Silent_p.G188G|CHID1_uc001lsp.3_Silent_p.G188G|CHID1_uc010qww.2_Silent_p.G188G	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.	188					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	p.G188G(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCACCACGAAGCCATCGAAAT	0.622000													4	16					0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67685160	67685160	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:67685160G>A	uc002etn.3	+	22	2375	c.2255G>A	c.(2254-2256)gGt>gAt	p.G752D	RLTPR_uc010cel.1_Missense_Mutation_p.G745D|RLTPR_uc010vjr.2_Missense_Mutation_p.G716D|RLTPR_uc010vjs.1_5'Flank	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	752										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGGCCCCAGGGTGAAGCCGCT	0.602000													5	60					0	0	1	0	0
LETM2	137994	broad.mit.edu	37	8	38260146	38260146	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38260146G>A	uc003xlm.2	+	6	1179	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	LETM2_uc011lbn.2_Missense_Mutation_p.R160Q|LETM2_uc003xll.2_Missense_Mutation_p.R268Q|LETM2_uc003xln.2_Missense_Mutation_p.R160Q|LETM2_uc003xlo.2_Missense_Mutation_p.R160Q	NM_001199659	NP_001186588	Q2VYF4	LETM2_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.	363	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GAACAACTGCGACAACAGCTC	0.537000													4	57					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66081866	66081866	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:66081866T>C	uc001dci.3	+	14	2560	c.2171T>C	c.(2170-2172)gTt>gCt	p.V724A	LEPR_uc001dcg.3_Missense_Mutation_p.V724A|LEPR_uc001dch.3_Missense_Mutation_p.V724A|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.V724A|LEPR_uc001dcj.3_Missense_Mutation_p.V724A|LEPR_uc001dck.3_Missense_Mutation_p.V724A	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	724	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTGCTTCTGTTGCAAATTTT	0.388000													4	56					0	0	1	0	0
CXXC5	51523	broad.mit.edu	37	5	139060933	139060933	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:139060933C>A	uc010jfg.1	+	1	1115	c.825C>A	c.(823-825)tgC>tgA	p.C275*	CXXC5_uc003let.2_Nonsense_Mutation_p.C275*	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	275					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCAACTGCGAGCAGTGCA	0.567000													3	109					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3730081	3730081	+	Missense_Mutation	SNP	G	G	A	rs140801428	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:3730081G>A	uc010xhv.2	+	2	271	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	TJP3_uc010xhs.2_Missense_Mutation_p.A72T|TJP3_uc010xht.2_Missense_Mutation_p.A36T|TJP3_uc010xhu.2_Missense_Mutation_p.A81T|TJP3_uc010xhw.2_Missense_Mutation_p.A91T	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	72	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCACCTCCGCGTTTGCCAT	0.597000													6	148					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33488411	33488411	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:33488411G>A	uc021vft.1	+	14	2592	c.2569G>A	c.(2569-2571)Gct>Act	p.A857T	LTBP1_uc002rou.3_Missense_Mutation_p.A531T|LTBP1_uc002rov.3_Missense_Mutation_p.A478T|LTBP1_uc010ymz.2_Missense_Mutation_p.A531T|LTBP1_uc010yna.2_Missense_Mutation_p.A478T	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	857					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCTCCTGAAGCTTCTACGTC	0.428000													13	89					0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47394309	47394309	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:47394309A>G	uc002iov.4	-	1	1243	c.779T>C	c.(778-780)cTg>cCg	p.L260P	ZNF652_uc002iow.3_Missense_Mutation_p.L260P|ZNF652_uc002iou.4_Intron	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTGCTTCTCCAGGTACCAGCG	0.478000													10	59					0	0	1	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:49926533G>C	uc002pnn.1	-	0	166	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449	NP_848544	Q96A98	TIP39_HUMAN	Homo sapiens parathyroid hormone 2 (PTH2), mRNA.	22					neuropeptide signaling pathway	extracellular region		p.L22V(4)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	15					0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118039353	118039353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:118039353G>A	uc001psf.2	-	1	375	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	62	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AGGGAGAACTGTTTGTGGTTC	0.592000													7	348					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155896	22155896	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:22155896A>C	uc021urr.1	-	3	2089	c.1940T>G	c.(1939-1941)aTt>aGt	p.I647S	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGACCTTAATAAAGGTTTT	0.398000													3	66					0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18322726	18322726	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:18322726G>A	uc010xqc.2	-	13	2114	c.1634C>T	c.(1633-1635)gCt>gTt	p.A545V	PDE4C_uc002nik.4_Missense_Mutation_p.A545V|PDE4C_uc002nil.4_Missense_Mutation_p.A545V|PDE4C_uc002nig.4_Missense_Mutation_p.A260V|PDE4C_uc002nih.4_Missense_Mutation_p.A315V|PDE4C_uc010ebk.3_Missense_Mutation_p.A439V|PDE4C_uc002nii.4_Missense_Mutation_p.A513V|PDE4C_uc002nif.4_Missense_Mutation_p.A314V|PDE4C_uc010ebl.3_Missense_Mutation_p.A259V	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	545					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.C544S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GCTCAGATCAGCACAGTGCAC	0.642000													3	80					0	0	1	0	0
ALX3	257	broad.mit.edu	37	1	110607211	110607211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:110607211G>A	uc001dzb.3	-	1	680	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_006492	NP_006483	O95076	ALX3_HUMAN	Homo sapiens ALX homeobox 3 (ALX3), mRNA.	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCCTCACCTGTACCCGGGCC	0.612000													4	46					0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	116968050	116968050	+	Silent	SNP	A	A	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr9:116968050A>G	uc011lxl.2	+	8	2181	c.2181A>G	c.(2179-2181)ggA>ggG	p.G727G	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Intron	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	727	Collagen-like 2.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGCAGCCAGGACCTGAGGGCA	0.587000													22	55					0	0	1	0	0
IMP4	92856	broad.mit.edu	37	2	131102232	131102232	+	Missense_Mutation	SNP	G	G	A	rs34815785	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:131102232G>A	uc002tra.1	+	2	160	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	CCDC115_uc010zaf.1_5'Flank|CCDC115_uc002tqy.1_5'Flank	NM_033416	NP_219484	Q96G21	IMP4_HUMAN	Homo sapiens IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) (IMP4), mRNA.	48	Arg-rich.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	ATP binding|aminoacyl-tRNA ligase activity|protein binding	p.R47L(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GAGTTACGCCGAGAGGCTCTG	0.552000													5	82					0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101972035	101972035	+	Silent	SNP	T	T	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:101972035T>G	uc022cbh.1	+	0	2238	c.2238T>G	c.(2236-2238)tcT>tcG	p.S746S	ARMCX5-GPRASP2_uc022cay.1_Silent_p.S746S|ARMCX5-GPRASP2_uc022cbe.1_Silent_p.S746S|ARMCX5-GPRASP2_uc004ejl.3_Silent_p.S746S|ARMCX5-GPRASP2_uc022cbf.1_Silent_p.S746S|ARMCX5-GPRASP2_uc022cbg.1_Silent_p.S746S|ARMCX5-GPRASP2_uc004ejm.3_Silent_p.S746S|ARMCX5-GPRASP2_uc004ejk.3_Silent_p.S746S	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	746						cytoplasm	protein binding										TGAATTTGTCTGAAAATCCTG	0.368000													5	53					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:29628245G>A	uc010ztl.1	+	2	189	c.157G>A	c.(157-159)Gcc>Acc	p.A53T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	151					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472026	52472026	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:52472026C>A	uc003dea.1	-	13	1699	c.1699G>T	c.(1699-1701)Ggc>Tgc	p.G567C		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	567					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCAGGGTTGCCGTGCCGGATG	0.701000													10	35					0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343428	130343428	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:130343428C>T	uc010scd.2	+	7	2565	c.2565C>T	c.(2563-2565)tgC>tgT	p.C855C		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	855	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGCGAGCTGCGGCAGTGGCC	0.721000													17	26					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17081776	17081776	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:17081776G>T	uc002nfb.3	-	17	2311	c.2279C>A	c.(2278-2280)aCc>aAc	p.T760N		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	713						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCTCATCGGTGTAGAGGCC	0.612000													21	48					0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6731293	6731293	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:6731293C>A	uc002mfp.3	-	16	1397	c.1351_splice	c.e16-1	p.V451_splice	GPR108_uc010duv.3_Splice_Site_p.V2_splice	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	451						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TAGCAGATGACCTGCAGGGGC	0.677000													9	44					0	0	1	0	0
ATL2	64225	broad.mit.edu	37	2	38546101	38546101	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:38546101C>T	uc002rqq.3	-	2	454	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	ATL2_uc010ynm.2_Missense_Mutation_p.G124S|ATL2_uc010ynn.2_Missense_Mutation_p.G124S|ATL2_uc010yno.2_5'UTR|ATL2_uc002rqr.3_5'UTR|ATL2_uc002rqs.3_Missense_Mutation_p.G142S	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	Homo sapiens atlastin GTPase 2 (ATL2), transcript variant 2, mRNA.	142					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTCACAGCCACCTCGCCAT	0.348000													24	240					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71153385	71153385	+	Silent	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:71153385C>A	uc001oqk.3	-	4	586	c.336G>T	c.(334-336)acG>acT	p.T112T	DHCR7_uc001oql.3_Silent_p.T112T	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	112					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGGGAGAGACGTGTACAGAA	0.587000									Smith-Lemli-Opitz syndrome				5	25					0	0	1	0	0
KIAA0930	23313	broad.mit.edu	37	22	45595785	45595785	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr22:45595785G>A	uc003bfv.1	-	6	1197	c.1011C>T	c.(1009-1011)agC>agT	p.S337S	KIAA0930_uc003bfx.1_Silent_p.S328S|KIAA0930_uc010gzw.1_Silent_p.S180S|KIAA0930_uc003bfw.1_Silent_p.S333S|KIAA0930_uc010gzx.2_Silent_p.S310S	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	328							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						AGAACTCCTCGCTGTCGTTGG	0.612000													12	118					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155253865	155253865	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:155253865G>A	uc003inw.2	-	8	1998	c.1998C>T	c.(1996-1998)ccC>ccT	p.P666P	DCHS2_uc003inx.2_Silent_p.P1165P	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	666	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCCGTCCTCGGGGATCCAAG	0.443000													7	148					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587340	55587340	+	Missense_Mutation	SNP	G	G	A	rs142474714	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:55587340G>A	uc010rin.2	+	0	235	c.235G>A	c.(235-237)Gct>Act	p.A79T		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A79S(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTCCATCATTGCTCCCAAGAT	0.408000													17	218					0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133952674	133952674	+	Missense_Mutation	SNP	G	G	A	rs113975085	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr9:133952674G>A	uc004caa.1	+	21	3828	c.3730G>A	c.(3730-3732)Gca>Aca	p.A1244T	LAMC3_uc010mze.1_5'Flank	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1244	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.A1244V(1)|p.G1243G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCAAGTTGGCGCAGATACAGC	0.617000													5	99					0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7875791	7875791	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:7875791C>T	uc002wmw.1	-	4	826	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	HAO1_uc010gbu.3_Missense_Mutation_p.V268M	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	268	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGCTGGCACCCCATCGAGT	0.488000													35	107					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60640728	60640728	+	Silent	SNP	C	C	T	rs151198562		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:60640728C>T	uc001nqd.3	+	6	1226	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P	ZP1_uc001nqe.3_Silent_p.P109P	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	402	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P402P(2)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGACCCAGCCCGGCCCCCTGC	0.602000													33	184					0	0	1	0	0
MYBPHL	343263	broad.mit.edu	37	1	109840068	109840068	+	Missense_Mutation	SNP	C	C	T	rs34962971		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:109840068C>T	uc001dxk.1	-	2	456	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	MYBPHL_uc010ovh.1_Intron|MYBPHL_uc001dxl.3_Intron	NM_001010985	NP_001010985	A2RUH7	MBPHL_HUMAN	Homo sapiens myosin binding protein H-like (MYBPHL), mRNA.	136	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TCAATGGTGGCGGTGGCCTCC	0.612000													9	73					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168105325	168105325	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:168105325A>T	uc002udx.3	+	8	7512	c.7423A>T	c.(7423-7425)Acg>Tcg	p.T2475S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.T2300S|XIRP2_uc010fpq.3_Missense_Mutation_p.T2253S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2300					actin cytoskeleton organization	cell junction	actin binding	p.T2475K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGTGAACACACGGAGACAAA	0.403000													5	47					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39357215	39357215	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:39357215G>T	uc001uwv.3	+	4	5959	c.5650G>T	c.(5650-5652)Gtg>Ttg	p.V1884L	FREM2_uc001uww.3_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1884	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1884V(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGAGCCAACTGTGTTTATTCC	0.408000													4	120					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34150170	34150170	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:34150170A>T	uc004ddg.3	-	0	278	c.226T>A	c.(226-228)Ttt>Att	p.F76I		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	76										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGTAAAAACTCGTCACGG	0.532000													7	28					0	0	1	0	0
LOC650623	650623	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs150975459	by1000genomes	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr10:81443821C>G	uc010qlu.2	+	0		c.1091C>G								Homo sapiens BEN domain containing 3 pseudogene (LOC650623), non-coding RNA.																		GCAGCACCATCGCCTCAGACC	0.612000													3	27					0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33414823	33414823	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:33414823C>A	uc003cfp.3	+	6	502	c.431C>A	c.(430-432)aCa>aAa	p.T144K	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Missense_Mutation_p.T60K|FBXL2_uc021wuy.1_Intron|FBXL2_uc011axo.2_Missense_Mutation_p.T39K|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	144					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTCTATTACAAACAGCTCC	0.428000													17	243					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776106	94776106	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr14:94776106G>A	uc001ycv.3	-	2	955	c.851C>T	c.(850-852)aCg>aTg	p.T284M	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	284					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCTGTTAATCGTGTCCCGGCT	0.552000													5	145					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29555896	29555896	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:29555896T>G	uc003nmr.1	+	0	214	c.175T>G	c.(175-177)Ttt>Gtt	p.F59V	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	59					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCCAATGTACTTTTTCCTCTC	0.527000													15	108					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38880740	38880740	+	Silent	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38880740G>A	uc003xmr.3	+	8	888	c.810G>A	c.(808-810)ctG>ctA	p.L270L	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	270	Peptidase M12B.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATGGAAACCTGATCAACATAG	0.413000													5	94					0	0	1	0	0
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:12187443C>G	uc002mtb.2	+	3	1651	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_uc010dym.1_Missense_Mutation_p.P346R	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P503R(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413000													3	37					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169227602	169227602	+	Silent	SNP	T	T	C			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:169227602T>C	uc003irp.3	-	4	826	c.534A>G	c.(532-534)caA>caG	p.Q178Q		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	178							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATCAGATTCTTGCCCTGAGG	0.398000													6	47					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59919898	59919898	+	Splice_Site	SNP	C	C	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr18:59919898C>A	uc002lil.3	+	12	1949	c.1734_splice	c.e12-1	p.R578_splice	KIAA1468_uc002lik.1_Splice_Site_p.R578_splice|KIAA1468_uc010xel.2_Splice_Site_p.R578_splice|KIAA1468_uc002lim.3_Splice_Site_p.R222_splice	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	578							binding	p.Q579K(3)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ATTTTTCAGGCAAATGATACT	0.383000													6	48					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44943340	44943340	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:44943340C>T	uc003coc.4	+	7	961	c.888C>T	c.(886-888)caC>caT	p.H296H		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	296					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.H296R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTCAGCTCACGACACAGAAA	0.552000													9	37					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	31355331	31355331	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:31355331G>A	uc002hht.3	-	3	1940	c.1067C>T	c.(1066-1068)aCc>aTc	p.T356I	ASIC2_uc002hhu.3_Missense_Mutation_p.T305I	NM_183377	NP_899233	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA.	305					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CCTACAGGCGGTGATGCTGTA	0.582000													3	64					0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38880724	38880724	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38880724G>A	uc003xmr.3	+	8	872	c.794G>A	c.(793-795)tGg>tAg	p.W265*	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	265	Peptidase M12B.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding	p.W265C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTGGAGATTTGGACCAATGGA	0.393000													4	84					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33630978	33630978	+	Silent	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:33630978C>T	uc003jia.1	-	12	2092	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	ADAMTS12_uc010iuq.1_Intron	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	643	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G642G(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCAGAAAACTGGCCATCTA	0.463000										HNSCC(64;0.19)			8	48					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53624777	53624777	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:53624777C>G	uc001vhl.3	+	4	1500	c.1404C>G	c.(1402-1404)gaC>gaG	p.D468E	OLFM4_uc001vhk.2_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	468	Olfactomedin-like.				cell adhesion	extracellular space		p.L467L(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCAAACTAGACATTGTAATGC	0.383000													21	33					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725804	140725804	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:140725804C>T	uc003ljm.2	+	0	2204	c.2204C>T	c.(2203-2205)aCg>aTg	p.T735M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.T735M	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	736					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCGAGTACGCCCGGCTCG	0.672000													5	93					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107087201	107087201	+	Splice_Site	SNP	G	G	A	rs144392595	by1000genomes	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr14:107087201G>A	uc021ser.1	-	129		c.5529_splice	c.e129+1							Parts of antibodies, mostly variable regions.																		TTCTCACTGCGTCTTTCACAC	0.527000													3	63					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681323	100681323	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:100681323G>A	uc003uxp.1	+	2	6679	c.6626G>A	c.(6625-6627)aGc>aAc	p.S2209N	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2209	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGTACCAGCATGCCAACC	0.498000													63	464					0	0	1	0	0
BZW1	9689	broad.mit.edu	37	2	201684782	201684782	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:201684782delT	uc010zhg.2	+	9	1215	c.1140delT	c.(1138-1140)tatfs	p.Y380fs	BZW1_uc002uwc.3_Frame_Shift_Del_p.Y348fs|BZW1_uc021vus.1_Frame_Shift_Del_p.Y352fs	NM_001207068	NP_001193997	Q7L1Q6	BZW1_HUMAN	Homo sapiens basic leucine zipper and W2 domains 1 (BZW1), transcript variant 2, mRNA.	348	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCAGGAGTATTGCTATGACA	0.338													2	4	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16955876	16955876	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr10:16955876delC	uc001ioo.3	-	47	7519	c.7467delG	c.(7465-7467)cggfs	p.R2489fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2489	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R2488M(1)|p.R2489L(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAGGGTGATCCGCCTTCCCT	0.517													41	246	---	---	---	---					
IGH	0	broad.mit.edu	37	16	33647495	33647495	+	RNA	DEL	C	-	-			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:33647495delC	uc010vga.2	-	0		c.48delG								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h.																		GTCTCAGGGACCCCCCAGGCT	0.567													8	112	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67337079	67337089	+	Frame_Shift_Del	DEL	CGATGAGGGCC	-	-			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:67337079_67337089delCGATGAGGGCC	uc002esu.2	-	3	654_664	c.603_613delGGCCCTCATCG	c.(601-615)gtggccctcatcgagfs	p.V201fs	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	201						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A202T(2)|p.T200M(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CACTCGCACTCGATGAGGGCCACCGTCTCAG	0.607													8	56	---	---	---	---					
