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
EPHB2	2048	broad.mit.edu	37	1	23110979	23110979	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:23110979G>A	uc009vqj.1	+	2	366	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	EPHB2_uc001bge.3_Missense_Mutation_p.R74Q|EPHB2_uc001bgf.3_Missense_Mutation_p.R74Q|EPHB2_uc010odu.2_Missense_Mutation_p.R74Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	74					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACTGGCTACGGACCAAGTTT	0.587												
WNT2B	7482	broad.mit.edu	37	1	113059824	113059825	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:113059824_113059825delCT	uc001ecb.3	+	3	1278_1279	c.763_764delCT	c.(763-765)ctcfs	p.L255fs	WNT2B_uc001eca.3_Frame_Shift_Del_p.L236fs|WNT2B_uc009wgg.3_Frame_Shift_Del_p.L163fs	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	255					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCGTGCACTCTCAGATTTC	0.624												
FLG	2312	broad.mit.edu	37	1	152279764	152279764	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:152279764C>T	uc001ezu.1	-	2	7634	c.7598G>A	c.(7597-7599)cGt>cAt	p.R2533H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2533	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2532S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGGTGACGCGACCCTGA	0.592									Ichthyosis			
NRP1	8829	broad.mit.edu	37	10	33545336	33545336	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:33545336C>T	uc001iwx.4	-	4	1245	c.722G>A	c.(721-723)gGc>gAc	p.G241D	NRP1_uc001iwv.4_Missense_Mutation_p.G241D|NRP1_uc001iwy.4_Missense_Mutation_p.G241D|NRP1_uc009xlz.3_Missense_Mutation_p.G241D|NRP1_uc001iww.4_Missense_Mutation_p.G60D|NRP1_uc001iwz.2_Missense_Mutation_p.G241D|NRP1_uc001ixa.2_Missense_Mutation_p.G241D|NRP1_uc001ixb.2_Missense_Mutation_p.G241D|NRP1_uc001ixc.1_Missense_Mutation_p.G241D	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	241	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGAGAGAATGCCCGATGAGGA	0.483												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
BMS1	9790	broad.mit.edu	37	10	43312886	43312888	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:43312886_43312888delGAA	uc001jaj.3	+	14	2882_2884	c.2524_2526delGAA	c.(2524-2526)gaadel	p.E842del		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	842					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGAATATGATGAAGGAGAAAGCA	0.384												
CYP2C8	1558	broad.mit.edu	37	10	96827051	96827051	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:96827051C>T	uc001kkb.3	-	2	490	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	CYP2C8_uc010qoa.2_Missense_Mutation_p.R62Q|CYP2C8_uc010qoc.2_Missense_Mutation_p.R30Q|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.R46Q|CYP2C8_uc021pwl.1_Missense_Mutation_p.R62Q|CYP2C8_uc010qod.1_Missense_Mutation_p.R46Q	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	132					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCCAAAATTCCGCAAGGTTGT	0.483												
NEURL	9148	broad.mit.edu	37	10	105331407	105331407	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:105331407G>T	uc001kxh.3	+	2	887	c.477G>T	c.(475-477)gaG>gaT	p.E159D	NEURL_uc021pxn.1_Missense_Mutation_p.E142D	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	159	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGCTGCCTGAGGAGTTTGCCA	0.612												
MUC2	4583	broad.mit.edu	37	11	1080301	1080301	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:1080301G>A	uc001lsx.1	+	7	1048	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	341	TIL.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGACGACATCGGGGACAGTGG	0.642												
OR5M11	219487	broad.mit.edu	37	11	56310330	56310330	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:56310330G>C	uc010rjl.2	-	0	404	c.404C>G	c.(403-405)aCg>aGg	p.T135R	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCTCCTGGACGTTTTCACACT	0.498												
UVRAG	7405	broad.mit.edu	37	11	75590966	75590966	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:75590966G>A	uc001oxc.3	+	3	555	c.314G>A	c.(313-315)cGt>cAt	p.R105H	UVRAG_uc010rrw.2_Missense_Mutation_p.R4H	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	105	C2.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATGCCAGACCGTCTTGATACA	0.423												
NOP2	4839	broad.mit.edu	37	12	6675301	6675301	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr12:6675301T>G	uc021qtw.1	-	4	608	c.428A>C	c.(427-429)gAc>gCc	p.D143A	NOP2_uc009zeq.2_5'Flank|NOP2_uc021qtx.1_Missense_Mutation_p.D143A|NOP2_uc021qty.1_Missense_Mutation_p.D147A|NOP2_uc021qtz.1_Missense_Mutation_p.D147A|NOP2_uc021qua.1_Missense_Mutation_p.D147A	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	147					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGAGTTGGAGTCAGCTCCATA	0.488												
ARHGEF25	115557	broad.mit.edu	37	12	58010639	58010640	+	Frame_Shift_Ins	INS	-	-	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr12:58010639_58010640insA	uc001spb.3	+	14	2165_2166	c.1705_1706insA	c.(1705-1707)caafs	p.Q569fs	ARHGEF25_uc009zpy.3_Frame_Shift_Ins_p.Q608fs|ARHGEF25_uc001spa.3_Frame_Shift_Ins_p.Q463fs|BC073932_uc001spc.3_Intron	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	569					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCTCCCTGCCAAGCCAGACTT	0.554												
ATP8A2	51761	broad.mit.edu	37	13	26349058	26349058	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr13:26349058G>T	uc001uqk.3	+	26	2782	c.2640G>T	c.(2638-2640)ttG>ttT	p.L880F	ATP8A2_uc010tdi.2_Missense_Mutation_p.L840F|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.L430F	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	840					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGTGCATCTTGTACTGCTTCT	0.388												
KIAA1704	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr13:45580365_45580367delGAT	uc001uzq.3	+	2	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.3_5'UTR|KIAA1704_uc001uzt.3_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	88	Poly-Asp.									breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.335												
SIX4	51804	broad.mit.edu	37	14	61189964	61189964	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr14:61189964G>A	uc001xfc.3	-	0	889	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	SIX4_uc010app.1_Missense_Mutation_p.R269C	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	277						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTCCTGTCGCGCTGCCGGCGG	0.637												
ACOT2	641371	broad.mit.edu	37	14	74008216	74008216	+	Silent	SNP	C	C	G	rs142030871	by1000genomes	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr14:74008216C>G	uc001xol.1	+	1	675	c.477C>G	c.(475-477)ggC>ggG	p.G159G	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Silent_p.G159G	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.	221					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	p.G159G(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CCTTTCCTGGCATTGTGGACA	0.463												
AGBL1	123624	broad.mit.edu	37	15	86838560	86838560	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr15:86838560G>A	uc002blz.1	+	15	2237	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	AGBL1_uc002bma.1_Silent_p.T450T|AGBL1_uc002bmb.1_Silent_p.T413T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	719					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.T719M(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTGCCAGACGCTGGGAGGGA	0.507												
NPIPA1	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562												
ACSM2B	348158	broad.mit.edu	37	16	20548636	20548636	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:20548636G>A	uc002dhj.4	-	14	1888	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	ACSM2B_uc002dhk.4_Nonsense_Mutation_p.R560*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	560					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTTTGGTTCGTTGAATTTTC	0.473												
CACNG3	10368	broad.mit.edu	37	16	24366257	24366257	+	Silent	SNP	C	C	T	rs147734423		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:24366257C>T	uc002dmf.3	+	2	1601	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	133					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGACACAACGTCATTCTCA	0.587												
ITGAM	3684	broad.mit.edu	37	16	31286996	31286996	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:31286996C>T	uc002ebr.3	+	8	1083	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	ITGAM_uc002ebq.3_Missense_Mutation_p.R329W|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	329					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAACCAGCTTCGGGAGAAGAT	0.542												
HYDIN	54768	broad.mit.edu	37	16	71004595	71004595	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:71004595C>T	uc002ezr.3	-	35	5595	c.5444G>A	c.(5443-5445)cGt>cAt	p.R1815H		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1816										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTTGCCCACGTGCCAGGAG	0.507												
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:7578550G>T	uc002gim.2	-	4	574	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.3_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.S88Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(44)|p.S127Y(16)|p.Y126_K132delYSPALNK(12)|p.S127C(10)|p.Y126*(10)|p.0?(8)|p.S127T(6)|p.Y126N(6)|p.Y126_N131delYSPALN(6)|p.Y126D(5)|p.S127P(4)|p.Y126C(4)|p.A129fs*20(3)|p.S127_Q136del10(2)|p.S127fs*42(2)|p.Y126fs*11(2)|p.P128fs*42(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126fs*18(2)|p.S127fs*36(2)|p.Y126Y(1)|p.S127S(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*22(1)|p.Y126_S127insQPHH(1)|p.S34F(1)|p.?(1)|p.A36fs*20(1)|p.P13fs*18(1)|p.P128fs*18(1)|p.Y126fs*24(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
SLC35G3	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:33520323C>T	uc002hjd.2	-	0	1090	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	335						integral to membrane		p.R335K(4)									CTCCTCCACCCTCCCTGTCCT	0.557												
WNT3	7473	broad.mit.edu	37	17	44851175	44851175	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:44851175T>C	uc002ikv.2	-	1	300	c.181A>G	c.(181-183)Aat>Gat	p.N61D		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	61					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCGATGTAATTGCGGCAGAAG	0.657												
C17orf47	284083	broad.mit.edu	37	17	56621053	56621053	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:56621053C>A	uc002iwq.2	-	0	681	c.495G>T	c.(493-495)aaG>aaT	p.K165N	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	165										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTAAGTTATTCTTCTGGTCTT	0.478												
CD300A	11314	broad.mit.edu	37	17	72469900	72469900	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:72469900C>T	uc002jkv.3	+	1	587	c.266C>T	c.(265-267)aCc>aTc	p.T89I	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	89	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTCACAGTGACCCTGGAGAAT	0.537												
THEG	51298	broad.mit.edu	37	19	375850	375850	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:375850G>A	uc002lol.3	-	0	164	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	THEG_uc002lom.3_Missense_Mutation_p.R41W	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	41					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTGACCCGCCGGCTCTCG	0.672												
EEF2	1938	broad.mit.edu	37	19	3980665	3980665	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:3980665A>C	uc002lze.3	-	8	1276	c.1193T>G	c.(1192-1194)aTt>aGt	p.I398S		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	398						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTTGGAAATATACATCAT	0.527												
MUC16	94025	broad.mit.edu	37	19	9046871	9046871	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:9046871G>A	uc002mkp.3	-	4	34964	c.34760C>T	c.(34759-34761)aCg>aTg	p.T11587M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11589	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAAACCGTTGTGCTGGT	0.522												
OR7E24	26648	broad.mit.edu	37	19	9361873	9361873	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:9361873A>G	uc002mlb.1	+	0	154	c.154A>G	c.(154-156)Atg>Gtg	p.M52V		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51*(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GTTCCTGTCCATGTACCTGGT	0.577												
ATP13A1	57130	broad.mit.edu	37	19	19756294	19756294	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:19756294C>T	uc002nnh.4	-	25	3580	c.3552G>A	c.(3550-3552)gcG>gcA	p.A1184A	GMIP_uc002nnd.3_5'Flank|GMIP_uc010xrb.2_5'Flank|GMIP_uc010xrc.2_5'Flank|ATP13A1_uc002nne.3_Silent_p.A324A|ATP13A1_uc002nnf.4_Silent_p.A552A|ATP13A1_uc002nng.3_Silent_p.A1066A	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	1184					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGGCCAGGAGCGCCAGGCAGA	0.647												
ZNF681	148213	broad.mit.edu	37	19	23927494	23927494	+	Silent	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:23927494T>C	uc002nrk.4	-	3	1000	c.858A>G	c.(856-858)gaA>gaG	p.E286E	ZNF681_uc002nrl.4_Silent_p.E217E|ZNF681_uc002nrj.4_Silent_p.E217E	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	286					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)				CTTTGTCACATTCTTCACGTT	0.363												
RPS4XP21	126235	broad.mit.edu	37	19	34583748	34583748	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:34583748G>A								KCTD15 (277082 upstream) : LSM14A (79604 downstream)																							GAATGGTGTCGTTCACTTTAA	0.463												
ZNF571	51276	broad.mit.edu	37	19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:38056190_38056193delGTAA	uc002ogs.1	-						LOC100507433_uc002ogm.3_Intron|LOC100507433_uc002ogn.3_Intron|LOC100507433_uc002ogo.3_Intron|LOC100507433_uc002ogp.3_Intron|LOC100507433_uc002ogq.3_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc002ogt.3_Frame_Shift_Del_p.T379fs|ZNF571_uc010efp.3_Frame_Shift_Del_p.T379fs			Q7Z3V5	ZN571_HUMAN	Homo sapiens zinc finger protein 571, mRNA (cDNA clone MGC:138690 IMAGE:40036719), complete cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377												
EXOSC5	56915	broad.mit.edu	37	19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:41903139G>A	uc002oqo.3	-	0	118	c.95C>T	c.(94-96)gCc>gTc	p.A32V	BCKDHA_uc002oqm.4_Intron|BCKDHA_uc002oqp.2_5'Flank|BCKDHA_uc002oqr.3_5'Flank|BCKDHA_uc002oqq.3_5'Flank|BCKDHA_uc010xvz.2_5'Flank	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	Homo sapiens exosome component 5 (EXOSC5), mRNA.	32					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGTTCGCAGGCAAAGTGCCG	0.582												
IRGC	56269	broad.mit.edu	37	19	44222975	44222975	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:44222975G>A	uc002oxh.3	+	1	412	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	IRGC_uc021uvh.1_Missense_Mutation_p.V89I	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	89						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.G88G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCTCACGGGCGTCATGGAGAC	0.701												
EXOC3L2	90332	broad.mit.edu	37	19	45728158	45728158	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:45728158G>A	uc002pay.1	-	5	459	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	140										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CGGGCCAGGCGCTCGGCCAGA	0.637												
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:51961617_51961619delGCA	uc002pwt.3	-	0	90_92	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_uc010yda.2_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596												
LILRB2	10288	broad.mit.edu	37	19	54783691	54783691	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:54783691C>T	uc002qfb.3	-	3	576	c.310G>A	c.(310-312)Gct>Act	p.A104T	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.A104T|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.A104T|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	104	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.A104S(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACCACCGAGCGCGGCTGTAA	0.592												
KIR2DL1	3804	broad.mit.edu	37	19	55255258	55255260	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:55255258_55255260delCTT	uc002qgx.3	+	3	423_425	c.386_388delCTT	c.(385-390)ccttct>cct	p.S130del	KIR2DL1_uc010erw.1_In_Frame_Del_p.S130del|KIR2DL1_uc002qgz.1_In_Frame_Del_p.S40del|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	130					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TATGAGAAACCTTCTCTCTCAGC	0.562												
FNDC4	64838	broad.mit.edu	37	2	27716857	27716857	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:27716857G>A	uc002rkx.3	-	3	800	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	GCKR_uc002rky.3_5'Flank|GCKR_uc010ezd.3_5'Flank|GCKR_uc010ylu.2_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	132	Fibronectin type-III.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					AAGTGCACCCGGGGCCCTGGG	0.607												
SCN3A	6328	broad.mit.edu	37	2	166019327	166019327	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:166019327T>C	uc002ucx.3	-	7	1198	c.706A>G	c.(706-708)Att>Gtt	p.I236V	SCN3A_uc002ucy.3_Missense_Mutation_p.I236V|SCN3A_uc002ucz.3_Missense_Mutation_p.I236V|SCN3A_uc002uda.1_Missense_Mutation_p.I105V|SCN3A_uc002udb.1_Missense_Mutation_p.I105V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	236						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCCCCCACAATGGTCTTTAAA	0.453												
ZNF804A	91752	broad.mit.edu	37	2	185802513	185802513	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:185802513G>A	uc002uph.3	+	3	2984	c.2390G>A	c.(2389-2391)aGg>aAg	p.R797K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	797						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATTTTTGAGGCCACCAAGT	0.383												
ANKRD44	91526	broad.mit.edu	37	2	197863059	197863059	+	Splice_Site	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:197863059A>G	uc021vuj.1	-	25	2941	c.2748_splice	c.e25+1	p.K916_splice	ANKRD44_uc002utz.4_Splice_Site_p.K623_splice|ANKRD44_uc021vuk.1_Splice_Site_p.K891_splice	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	916							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCATTTACATACTTTACTACA	0.333												
NYAP2	57624	broad.mit.edu	37	2	226446958	226446958	+	Silent	SNP	C	C	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:226446958C>A	uc002voe.2	+	3	1000	c.825C>A	c.(823-825)atC>atA	p.I275I	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.I45I	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	275								p.I275I(1)									AGTACCCTATCTTTGACGACT	0.542												
NYAP2	57624	broad.mit.edu	37	2	226446979	226446979	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:226446979C>T	uc002voe.2	+	3	1021	c.846C>T	c.(844-846)gaC>gaT	p.D282D	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.D52D	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	282																	TGGGCCAAGACGCCAAATGTG	0.557												
COL6A3	1293	broad.mit.edu	37	2	238249201	238249201	+	Silent	SNP	G	G	A	rs113423040		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:238249201G>A	uc002vwl.2	-	37	8643	c.8358C>T	c.(8356-8358)ttC>ttT	p.F2786F	COL6A3_uc002vwo.2_Silent_p.F2580F|COL6A3_uc010znj.1_Silent_p.F2179F|COL6A3_uc002vwj.2_Silent_p.F167F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2786	Nonhelical region.|VWFA 12.				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)		GCTCACTGGCGAAGGTGTATA	0.547												
SLCO4A1	28231	broad.mit.edu	37	20	61299253	61299253	+	Silent	SNP	C	C	T	rs138089582	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr20:61299253C>T	uc002ydb.1	+	7	1834	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	LOC100127888_uc002ydd.3_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.T3M	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	543	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGAATGTGGACGGCCAGAAGG	0.647												
KIAA1644	85352	broad.mit.edu	37	22	44692617	44692617	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr22:44692617G>A	uc003bet.2	-	2	349	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	72						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTCCGTCTCGTTGCAGCAGT	0.582												
CNTN4	152330	broad.mit.edu	37	3	3076350	3076350	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:3076350C>T	uc003bpc.3	+	16	2157	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	CNTN4_uc003bpb.1_Silent_p.D277D|CNTN4_uc021wsg.1_Silent_p.D606D|CNTN4_uc003bpd.1_Silent_p.D606D|CNTN4_uc003bpe.3_Silent_p.D278D|CNTN4_uc003bpf.3_Silent_p.D277D	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	606	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGACAATAGACGAAATCACAG	0.537												
COLQ	8292	broad.mit.edu	37	3	15512054	15512054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:15512054G>A	uc003bzx.3	-	10	832	c.706C>T	c.(706-708)Cga>Tga	p.R236*	COLQ_uc003bzv.3_Nonsense_Mutation_p.R226*|COLQ_uc010heo.3_Nonsense_Mutation_p.R202*|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Nonsense_Mutation_p.R95*	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	236	Collagen-like 1.|Heparan sulfate proteoglycan binding (Potential).				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TGCTTGCCTCGTTTTCCTGGT	0.552												
ROBO1	6091	broad.mit.edu	37	3	79639041	79639042	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:79639041_79639042delAG	uc003dqe.2	-	1	228_229	c.20_21delCT	c.(19-21)cctfs	p.P7fs		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	7					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.P7H(3)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGACCAAAAAAGGAACATGTTT	0.381												
PIK3CA	5290	broad.mit.edu	37	3	178916921	178916921	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:178916921A>G	uc003fjk.3	+	1	465	c.308A>G	c.(307-309)gAa>gGa	p.E103G		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	103	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAAGTAATTGAACCAGTAGGC	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)		
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	A	G	rs12107841	by1000genomes	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587												
HELT	391723	broad.mit.edu	37	4	185940979	185940979	+	Missense_Mutation	SNP	C	C	T	rs147187823	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr4:185940979C>T	uc011ckq.2	+	2	466	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	HELT_uc011cko.2_Missense_Mutation_p.P71S|HELT_uc003ixa.3_Missense_Mutation_p.P71S|HELT_uc011ckp.1_Missense_Mutation_p.P15S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	Homo sapiens helt bHLH transcription factor (HELT), mRNA.	156							DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGCTGATTTTCCCCGGGGAAG	0.632												
SLCO6A1	133482	broad.mit.edu	37	5	101735262	101735262	+	Missense_Mutation	SNP	G	G	A	rs139495343	by1000genomes	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:101735262G>A	uc003knn.3	-	9	1983	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	SLCO6A1_uc003kno.3_Missense_Mutation_p.T351M|SLCO6A1_uc003knp.3_Missense_Mutation_p.T604M|SLCO6A1_uc003knq.3_Missense_Mutation_p.T542M	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	604						integral to membrane|plasma membrane	transporter activity	p.M603I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TACATACCGCGTCATGGCCAA	0.284												
REEP2	51308	broad.mit.edu	37	5	137781275	137781275	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:137781275G>A	uc003lda.3	+	6	806	c.684G>A	c.(682-684)gcG>gcA	p.A228A	REEP2_uc003lcz.3_Silent_p.A226A|REEP2_uc011cyt.2_Silent_p.A187A	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	226						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAAAAAAGCGCCCAAAGCTG	0.592												
PCDHAC2	56137	broad.mit.edu	37	5	140257259	140257259	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:140257259G>A	uc003lic.2	+	0	2329	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.P734P	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682												
MAML1	9794	broad.mit.edu	37	5	179192466	179192466	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:179192466C>A	uc003mkm.3	+	1	718	c.455C>A	c.(454-456)tCc>tAc	p.S152Y	MAML1_uc003mkn.1_Missense_Mutation_p.S152Y	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	152					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCATCTCTTCCAATGGACTG	0.602												
DSP	1832	broad.mit.edu	37	6	7583891	7583891	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:7583891G>A	uc003mxp.1	+	23	6675	c.6396G>A	c.(6394-6396)ggG>ggA	p.G2132G	DSP_uc003mxq.1_Silent_p.G1533G|DSP_uc021yle.1_Silent_p.G1689G	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2132	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGCTTCAGGGGGTGTAGTAG	0.473												
JARID2	3720	broad.mit.edu	37	6	15520428	15520428	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:15520428C>T	uc003nbj.3	+	17	3931	c.3687C>T	c.(3685-3687)ccC>ccT	p.P1229P	JARID2_uc011div.2_Silent_p.P1057P	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1229					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGACGTGCCCCCCTCCCGTC	0.488												
HIST1H2BF	8343	broad.mit.edu	37	6	26199947	26199947	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:26199947G>A	uc003ngx.3	+	0	161	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3D_uc003ngv.3_5'Flank|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2AD_uc003ngw.3_5'Flank	NM_003522	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bf (HIST1H2BF), mRNA.	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCCGACACCGGCATCTCATCC	0.567												
LGSN	51557	broad.mit.edu	37	6	64004847	64004847	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:64004847A>C	uc003peh.3	-	1	168	c.134T>G	c.(133-135)gTg>gGg	p.V45G	LGSN_uc003pei.3_Missense_Mutation_p.V45G|LGSN_uc003pej.1_Missense_Mutation_p.V45G	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	45					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CGTTTCTCCCACTTCAGTTGA	0.393												
HECA	51696	broad.mit.edu	37	6	139487771	139487771	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:139487771G>A	uc003qin.3	+	1	907	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	208					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GTCTGGCTCCGAGAAGAACAC	0.592												
NOD1	10392	broad.mit.edu	37	7	30492358	30492358	+	Silent	SNP	G	G	A	rs150842987		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:30492358G>A	uc003tav.3	-	5	1198	c.675C>T	c.(673-675)gaC>gaT	p.D225D	NOD1_uc010kvs.2_Intron	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	225	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGACCCCTGCGTCTAGCCGGC	0.577												
VPS41	27072	broad.mit.edu	37	7	38835094	38835094	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:38835094G>C	uc003tgy.3	-	8	714	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	VPS41_uc003tgz.3_Missense_Mutation_p.L205V|VPS41_uc010kxn.3_Intron	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	230					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|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						CCAATAATCAGTGTCACATTG	0.468												
POM121L12	285877	broad.mit.edu	37	7	53103860	53103860	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:53103860G>A	uc003tpz.3	+	0	512	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	166								p.A165A(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ccgccccgccgcccAGGAGCT	0.721												
POM121L12	285877	broad.mit.edu	37	7	53104151	53104151	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:53104151G>A	uc003tpz.3	+	0	803	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	263										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCCATCCGCCATCTGGGA	0.662												
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	rs149840192		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:55221822C>A	uc003tqk.3	+	6	1112	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
LRWD1	222229	broad.mit.edu	37	7	102106371	102106371	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:102106371C>T	uc003uzn.3	+	1	326	c.188C>T	c.(187-189)cCg>cTg	p.P63L	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	63					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	p.P63L(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GAGACGCTGCCGGACAACCTG	0.622												
CHRM2	1129	broad.mit.edu	37	7	136700738	136700738	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:136700738A>G	uc003vtf.1	+	3	1749	c.1126A>G	c.(1126-1128)Aag>Gag	p.K376E	CHRM2_uc003vtg.1_Missense_Mutation_p.K376E|CHRM2_uc003vti.1_Missense_Mutation_p.K376E|CHRM2_uc003vtm.1_Missense_Mutation_p.K376E|CHRM2_uc003vtj.1_Missense_Mutation_p.K376E|CHRM2_uc003vtk.1_Missense_Mutation_p.K376E|CHRM2_uc003vtl.1_Missense_Mutation_p.K376E|CHRM2_uc003vtn.1_Missense_Mutation_p.K376E|CHRM2_uc003vto.1_Missense_Mutation_p.K376E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.K376E	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	376					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGCAAAAAAGAAGCCTCCTCC	0.478												
SFRP1	6422	broad.mit.edu	37	8	41166547	41166547	+	Silent	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr8:41166547G>T	uc003xnt.3	-	0	444	c.132C>A	c.(130-132)ggC>ggA	p.G44G		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	44					brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.G44G(3)		breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCTGGTACGGGCCGATGTCCG	0.687												
RP1	6101	broad.mit.edu	37	8	55541829	55541829	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr8:55541829C>T	uc003xsd.1	+	3	5535	c.5387C>T	c.(5386-5388)aCg>aTg	p.T1796M	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1796					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T1796M(2)|p.T1796T(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAGGCCCAACGATGGATGAA	0.448												
DOCK8	81704	broad.mit.edu	37	9	286571	286571	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:286571C>T	uc003zgf.2	+	2	379	c.267C>T	c.(265-267)gaC>gaT	p.D89D	DOCK8_uc011lls.1_Silent_p.D89D|DOCK8_uc022bcu.1_Silent_p.D21D|DOCK8_uc010mgv.3_Silent_p.D21D|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_Silent_p.D21D|DOCK8_uc003zgg.3_Silent_p.D21D|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	89					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCACTGATGACGACTTGGACG	0.507												
TMEM215	401498	broad.mit.edu	37	9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:32784414G>A	uc022bfh.1	+	0	233	c.233G>A	c.(232-234)cGc>cAc	p.R78H	TMEM215_uc003zri.4_Missense_Mutation_p.R78H	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	78						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597												
TDRD7	23424	broad.mit.edu	37	9	100227272	100227272	+	Silent	SNP	C	C	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:100227272C>A	uc004axj.3	+	7	1816	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	TDRD7_uc011lux.2_Silent_p.R457R	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	531	Tudor 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CGCCTGGTTACGGGCACAGGT	0.423												
TGFBR1	7046	broad.mit.edu	37	9	101900167	101900167	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:101900167A>G	uc004azc.3	+	3	677	c.601A>G	c.(601-603)Att>Gtt	p.I201V	TGFBR1_uc004azd.3_Missense_Mutation_p.I124V|TGFBR1_uc004aze.3_Missense_Mutation_p.I205V|TGFBR1_uc011lvc.2_Missense_Mutation_p.I132V	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	201	GS.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGAACAATTGCGAGAAC	0.358												
PRPS2	5634	broad.mit.edu	37	X	12828240	12828240	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:12828240T>A	uc004cva.3	+	3	657	c.514T>A	c.(514-516)Tca>Aca	p.S172T	PRPS2_uc004cvb.3_Missense_Mutation_p.S169T|PRPS2_uc010nec.3_Missense_Mutation_p.S105T	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	169					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TATCATTGTTTCACCTGACGC	0.463												
SSX9	280660	broad.mit.edu	37	X	48164232	48164232	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:48164232T>C	uc022bvu.1	-	0	53	c.51A>G	c.(49-51)atA>atG	p.I17M						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TCTTCTCTGGTATTTGAGAAC	0.557												
MSN	4478	broad.mit.edu	37	X	64949532	64949532	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:64949532A>G	uc004dwf.3	+	3	623	c.425A>G	c.(424-426)cAt>cGt	p.H142R		NM_002444	NP_002435	P26038	MOES_HUMAN	Homo sapiens moesin (MSN), mRNA.	142	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AAGGAAGTGCATAAGTCTGGC	0.562			T	ALK	ALCL							
HEPH	9843	broad.mit.edu	37	X	65486458	65486458	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:65486458C>T	uc011moz.2	+	20	3720	c.3583C>T	c.(3583-3585)Cgc>Tgc	p.R1195C	HEPH_uc004dwn.3_Missense_Mutation_p.R1143C|HEPH_uc004dwo.3_Missense_Mutation_p.R874C|HEPH_uc010nkr.3_Missense_Mutation_p.R952C|HEPH_uc011mpa.2_Missense_Mutation_p.R1144C	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1141					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAAGCTACGACGCAATAGGAG	0.498												
DCAF12L2	340578	broad.mit.edu	37	X	125299891	125299891	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:125299891G>T	uc004euk.2	-	0	190	c.17C>A	c.(16-18)aCa>aAa	p.T6K		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	6										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGCTACCTGTTTGCTGCTG	0.776