Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ALDOC	230	broad.mit.edu	37	17	26900872	26900872	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:26900872G>A	uc002hbp.3	-	7	1025	c.880C>T	c.(880-882)Cga>Tga	p.R294*	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank	NM_005165	NP_005156	P09972	ALDOC_HUMAN	Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA.	294					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					GCCCAGGGTCGGGGAAGGGGG	0.602000														62			10		0	0	0.001368	0	0
EIF2C4	192670	broad.mit.edu	37	1	36307284	36307284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:36307284G>A	uc001bzj.2	+	14	2298	c.2108G>A	c.(2107-2109)gGa>gAa	p.G703E		NM_017629	NP_060099	Q9HCK5	AGO4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 4 (EIF2C4), mRNA.	703	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TACCGGCCAGGAATAACTTAT	0.358000														62			10		0	0	0.000673	0	0
ZFPM2	23414	broad.mit.edu	37	8	106573624	106573624	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:106573624G>A	uc003ymd.3	+	3	358	c.335G>A	c.(334-336)cGa>cAa	p.R112Q		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	112					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R112Q(2)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GATGGGGAACGAAAAATTCAG	0.438000														22			5		0	0	0.000602	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776541	159776541	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:159776541C>T	uc003lyd.3	-	2	631	c.627G>A	c.(625-627)cgG>cgA	p.R209R		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	164	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATGGGCAGCCGCTCCCGTG	0.592000														60			15		0	0	0.002450	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646628	80646628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:80646628C>T	uc010ysh.2	+	7	1197	c.1192C>T	c.(1192-1194)Cct>Tct	p.P398S	CTNNA2_uc010yse.2_Missense_Mutation_p.P398S|CTNNA2_uc010ysf.2_Missense_Mutation_p.P398S|CTNNA2_uc010ysg.2_Missense_Mutation_p.P398S|CTNNA2_uc010ysi.2_Missense_Mutation_p.P30S	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	398					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AACCAATGTTCCTTTGCTAGT	0.393000														40			28		0	0	0.005443	0	0
GPR98	84059	broad.mit.edu	37	5	89923430	89923430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:89923430C>T	uc003kju.3	+	6	1171	c.1075C>T	c.(1075-1077)Cac>Tac	p.H359Y	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	359	Calx-beta 3.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.H359Y(2)|p.H359D(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGAATCGTTTCACATTATGTT	0.368000														125			12		0	0	0.001855	0	0
TSEN2	80746	broad.mit.edu	37	3	12531302	12531302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:12531302G>A	uc003bxc.3	+	1	390	c.3G>A	c.(1-3)atG>atA	p.M1I	TSEN2_uc003bwz.3_Missense_Mutation_p.M1I|TSEN2_uc003bxa.3_Missense_Mutation_p.M1I|TSEN2_uc011auq.1_Missense_Mutation_p.M1I|TSEN2_uc003bxb.3_Missense_Mutation_p.M1I|TSEN2_uc011aur.1_5'UTR	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	1					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TCTGAAAAATGGCAGAAGCAG	0.408000														164			45		0	0	0.002852	0	0
BRAF	673	broad.mit.edu	37	7	140453138	140453138	+	Silent	SNP	T	G	G	rs121913374		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:140453138T>G	uc003vwc.4	-	14	1858	c.1797A>C	c.(1795-1797)acA>acC	p.T599T		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	599	Protein kinase.		T -> R (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.T599_V600insT(12)|p.A598_T599insV(7)|p.T599_V600insTT(6)|p.T599I(5)|p.T599_R603>I(4)|p.A598V(4)|p.T599_V600>IAL(4)|p.T599T(4)|p.L597_A598insT(2)|p.A598T(1)|p.D594_T599del(1)|p.V600R(1)|p.T599_V600insV(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGATTTCACTGTAGCTAGAC	0.363000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					43			19		0	0	0.001216	0	0
SSTR1	6751	broad.mit.edu	37	14	38679446	38679446	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:38679446G>A	uc021rsi.1	+	0	852	c.852G>A	c.(850-852)tgG>tgA	p.W284*	SSTR1_uc001wul.1_Nonsense_Mutation_p.W284*	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	284					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCATCTGCTGGATGCCTTTCT	0.592000														26			4		0	0	0.000602	0	0
ABCC8	6833	broad.mit.edu	37	11	17427103	17427103	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:17427103C>A	uc001mnc.3	-	26	3463	c.3337G>T	c.(3337-3339)Gag>Tag	p.E1113*		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1113	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGCGTGGTCTCAAAAAACCTA	0.448000														136			28		7.01153e-11	3.59742e-10	0.001271	1	0
TUBGCP5	114791	broad.mit.edu	37	15	22840322	22840323	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:22840322_22840323CC>TT	uc001yuq.2	+	3	518_519	c.388_389CC>TT	c.(388-390)cca>TTa	p.P130L	TUBGCP5_uc001yur.4_Missense_Mutation_p.P130L	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	130					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TGTGGAGACACCAAGAAATAAA	0.332000														48			5		0	0	0.004672	0	0
ALKBH4	54784	broad.mit.edu	37	7	102097862	102097862	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:102097862G>A	uc003uzl.3	-	2	926	c.888C>T	c.(886-888)tcC>tcT	p.S296S	ALKBH4_uc003uzm.3_Silent_p.S223S	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA.	296						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						TTCCCTGGAAGGAGAGGGCGA	0.632000														37			6		0	0	0.001984	0	0
CNTN6	27255	broad.mit.edu	37	3	1445017	1445017	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:1445017G>A	uc003boz.3	+	22	3269	c.3002G>A	c.(3001-3003)gGa>gAa	p.G1001E	CNTN6_uc011asj.2_Missense_Mutation_p.G929E|CNTN6_uc003bpa.3_Missense_Mutation_p.G1001E	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	1001					Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTTCCAGAGGAATTCAATTC	0.299000														47			4		0	0	0.000602	0	0
PRDM16	63976	broad.mit.edu	37	1	3328920	3328920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:3328920C>T	uc001akf.3	+	8	2241	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	PRDM16_uc001ake.3_Missense_Mutation_p.P720L|PRDM16_uc009vlh.3_Missense_Mutation_p.P421L|PRDM16_uc001akc.3_Missense_Mutation_p.P720L	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	720	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCTCGCTCCCCTACCACTCG	0.637000			T	EVI1	"""MDS, AML"""									26			5		0	0	0.000602	0	0
CDC25A	993	broad.mit.edu	37	3	48219437	48219437	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:48219437G>A	uc003csh.1	-	6	955	c.591C>T	c.(589-591)ttC>ttT	p.F197F	CDC25A_uc003csi.1_Silent_p.F157F|CDC25A_uc021wxk.1_Silent_p.F156F	NM_001789	NP_001780	P30304	MPIP1_HUMAN	Homo sapiens cell division cycle 25 homolog A (S. pombe) (CDC25A), transcript variant 1, mRNA.	197					DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|mitosis|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AAAGAGGAATGAAATTCCCTG	0.428000														78			22		0	0	0.003954	0	0
GLOD4	51031	broad.mit.edu	37	17	673150	673150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:673150G>A	uc002frv.3	-	8	911	c.835C>T	c.(835-837)Ctt>Ttt	p.L279F	GLOD4_uc002frt.3_Missense_Mutation_p.L208F|GLOD4_uc002fru.3_Missense_Mutation_p.L264F|GLOD4_uc010vqc.2_Missense_Mutation_p.L255F	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA.	279						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ATCTTAGAAAGTTCTCGAAAT	0.443000														25			5		0	0	0.001984	0	0
UBR4	23352	broad.mit.edu	37	1	19441953	19441954	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:19441953_19441954GG>AA	uc001bbi.3	-	73	11005_11006	c.11001_11002CC>TT	c.(10999-11004)gtccct>gtTTct	p.P3668S	UBR4_uc001bbj.1_Missense_Mutation_p.P83S	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3668					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGTTGGCAGGGACCGAGGCAC	0.540000														37			6		0	0	0.004672	0	0
GNB3	2784	broad.mit.edu	37	12	6953123	6953123	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:6953123C>G	uc001qrd.3	+	8	1085	c.680C>G	c.(679-681)tCg>tGg	p.S227W	GNB3_uc001qrc.3_Missense_Mutation_p.S183W|GNB3_uc009zfe.3_Missense_Mutation_p.S226W	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	227					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						GGCCACGAGTCGGACATCAAC	0.577000														24			5		0	0	0.000602	0	0
DNAH10	196385	broad.mit.edu	37	12	124341693	124341693	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:124341693C>T	uc001uft.4	+	35	6200	c.6175C>T	c.(6175-6177)Ctg>Ttg	p.L2059L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2059					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GATTTCGGATCTGTTTCCTGG	0.542000														37			7		0	0	0.001984	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38194888	38194889	+	Missense_Mutation	DNP	GG	AA	AA	rs74585221		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:38194888_38194889GG>AA	uc003xli.3	-	3	1362_1363	c.844_845CC>TT	c.(844-846)cct>TTt	p.P282F	WHSC1L1_uc011lbm.2_Missense_Mutation_p.P282F|WHSC1L1_uc010lwe.3_Missense_Mutation_p.P282F|WHSC1L1_uc003xlj.3_Missense_Mutation_p.P282F	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	282	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGGCCACCAAGGATAGGTTCCC	0.431000			T	NUP98	AML									35			8		0	0	0.004672	0	0
WDR67	93594	broad.mit.edu	37	8	124140586	124140586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:124140586G>A	uc003ypp.2	+	13	2040	c.1950G>A	c.(1948-1950)atG>atA	p.M650I	WDR67_uc011lig.2_Missense_Mutation_p.M650I|WDR67_uc011lih.2_Missense_Mutation_p.M540I|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Intron|WDR67_uc003ypu.2_Missense_Mutation_p.M107I	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	650						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATCATCTCATGGAGACCACGC	0.348000														52			18		0	0	0.001216	0	0
DFNB59	494513	broad.mit.edu	37	2	179323268	179323268	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:179323268G>A	uc002umi.4	+	4	937	c.581G>A	c.(580-582)gGa>gAa	p.G194E	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.G194E	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	194					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AATCCCAAGGGAAGGGACAAA	0.353000														40			18		0	0	0.004990	0	0
ECE2	9718	broad.mit.edu	37	3	183995065	183995065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:183995065G>A	uc003fni.4	+	3	681	c.643G>A	c.(643-645)Gag>Aag	p.E215K	ECE2_uc011brg.1_Missense_Mutation_p.E143K|ECE2_uc011brh.1_Missense_Mutation_p.E68K|ECE2_uc003fnl.4_Missense_Mutation_p.E143K|ECE2_uc003fnm.4_Missense_Mutation_p.E97K|ECE2_uc003fnk.4_Missense_Mutation_p.E68K|ECE2_uc011bri.1_Missense_Mutation_p.E130K|ECE2_uc010hxv.3_5'UTR	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	215	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	Golgi membrane|cytoplasmic vesicle membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCTTACAGAGGCCTGCAT	0.582000														34			8		0	0	0.000673	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766741	77766741	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:77766741C>T	uc003yau.2	+	9	7971	c.7584C>T	c.(7582-7584)ttC>ttT	p.F2528F	ZFHX4_uc003yaw.1_Silent_p.F2483F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2483						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N2527H(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTCTCCGTTCTTGGAAAGGC	0.517000										HNSCC(33;0.089)				84			12		0	0	0.000978	0	0
ENTPD4	9583	broad.mit.edu	37	8	23294537	23294537	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:23294537G>A	uc003xdl.3	-	9	1556	c.1284C>T	c.(1282-1284)ttC>ttT	p.F428F	ENTPD4_uc011kzu.1_Silent_p.F420F|ENTPD4_uc003xdm.3_Silent_p.F420F|ENTPD4_uc011kzv.1_Silent_p.F428F	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	428					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AGAAGCCATAGAATTCACTGT	0.463000														69			20		0	0	0.001882	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					42			19		0	0	0.001523	0	0
BAG6	7917	broad.mit.edu	37	6	31609612	31609612	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:31609612G>A	uc003nvg.4	-	15	2670	c.2356C>T	c.(2356-2358)Cga>Tga	p.R786*	BAG6_uc003nvf.4_Nonsense_Mutation_p.R780*|BAG6_uc003nvi.4_Nonsense_Mutation_p.R780*|BAG6_uc003nvh.4_Nonsense_Mutation_p.R780*|BAG6_uc011dnw.2_Nonsense_Mutation_p.R780*|BAG6_uc011dnx.2_Nonsense_Mutation_p.R654*	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	786					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AAGAAGGATCGCAGCTGGGGC	0.562000														233			20		0	0	0.001216	0	0
DCDC5	100506627	broad.mit.edu	37	11	30926522	30926522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:30926522C>T	uc009yjk.1	-	18	2707	c.2638G>A	c.(2638-2640)Gga>Aga	p.G880R	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.G539R|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	511					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						GGGAATGTTCCAGCCACAATT	0.428000														36			13		0	0	0.001855	0	0
FTSJ3	117246	broad.mit.edu	37	17	61901534	61901534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:61901534G>A	uc002jbz.3	-	10	1142	c.1064C>T	c.(1063-1065)cCc>cTc	p.P355L	FTSJ3_uc002jca.3_Missense_Mutation_p.P355L	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	355					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	p.P355S(1)|p.P355P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ctcctTAGAGGGCTGCTTTGT	0.527000														81			19		0	0	0.001882	0	0
CKM	1158	broad.mit.edu	37	19	45815063	45815063	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:45815063G>A	uc002pbd.3	-	4	770	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	199	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCAGCAGCGGGGACACGGGCT	0.657000														13			6		0	0	0.001984	0	0
CYP4F12	66002	broad.mit.edu	37	19	15806987	15806987	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:15806987C>T	uc002nbl.3	+	10	1385	c.1266C>T	c.(1264-1266)atC>atT	p.I422I		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTGCCTCATCGATATTATAG	0.572000														33			8		0	0	0.000443	0	0
HECTD2	143279	broad.mit.edu	37	10	93220272	93220273	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr10:93220272_93220273CC>TT	uc010qnm.1	+	2	457_458	c.357_358CC>TT	c.(355-360)gtcctt>gtTTtt	p.L120F	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khk.2_Missense_Mutation_p.L120F|HECTD2_uc001khl.2_Missense_Mutation_p.L120F|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_5'Flank	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	120					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AGGCCCCAGTCCTTCCAGAACC	0.406000														50			16		0	0	0.004672	0	0
TBX19	9095	broad.mit.edu	37	1	168282099	168282099	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:168282099G>A	uc001gfl.3	+	7	1257	c.1206G>A	c.(1204-1206)tcG>tcA	p.S402S	TBX19_uc001gfj.4_Silent_p.S270S|TBX19_uc001gfm.3_Silent_p.S105S	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	402					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CACCCACTTCGGCTGGTGTGG	0.652000														26			10		0	0	0.001368	0	0
PHEX	5251	broad.mit.edu	37	X	22117214	22117214	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:22117214C>G	uc004dah.3	+	8	1227	c.1024C>G	c.(1024-1026)Cgc>Ggc	p.R342G	PHEX_uc011mjr.2_Missense_Mutation_p.R342G|PHEX_uc011mjs.2_Missense_Mutation_p.R245G	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	342					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding	p.R342C(2)|p.R342H(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TGTGGTGGTCCGCGTCCCGCA	0.453000														40			8		0	0	0.004482	0	0
C2CD4A	145741	broad.mit.edu	37	15	62359840	62359841	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:62359840_62359841GG>AA	uc002ahf.4	+	1	169_170	c.28_29GG>AA	c.(28-30)ggt>AAt	p.G10N	C2CD4A_uc021snl.1_Missense_Mutation_p.G10N	NM_207322	NP_997205	Q8NCU7	C2C4A_HUMAN	Homo sapiens C2 calcium-dependent domain containing 4A (C2CD4A), mRNA.	10						nucleus											ACTCCGCTTGGGTCCTGAGTGC	0.653000														10			4		0	0	0.004672	0	0
SCAP	22937	broad.mit.edu	37	3	47470067	47470067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:47470067G>A	uc003crh.1	-	3	601	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	SCAP_uc011baz.1_Intron|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	116					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAAGGTGAACGAAATACATCT	0.557000														57			19		0	0	0.006122	0	0
HMOX1	3162	broad.mit.edu	37	22	35789528	35789528	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:35789528C>T	uc003ant.2	+	4	911	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_002133	NP_002124	P09601	HMOX1_HUMAN	Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA.	268					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of chemokine biosynthetic process|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	CTCCGCTTCTCCGATGGGTCC	0.562000														72			14		0	0	0.001855	0	0
OPRM1	4988	broad.mit.edu	37	6	154360946	154360946	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:154360946C>T	uc011efe.2	+	2	1069	c.546C>T	c.(544-546)ttC>ttT	p.F182F	OPRM1_uc011efb.2_Silent_p.F137F|OPRM1_uc011efd.2_Intron|OPRM1_uc011efc.1_Intron|OPRM1_uc003qpn.2_Silent_p.F89F|OPRM1_uc003qpo.1_Silent_p.F89F|OPRM1_uc011eff.1_Silent_p.F89F|OPRM1_uc011efg.1_Silent_p.F89F|OPRM1_uc011efi.2_Silent_p.F89F|OPRM1_uc011efh.1_Silent_p.F89F|OPRM1_uc003qpq.1_Silent_p.F89F|OPRM1_uc003qpr.2_Silent_p.F89F|OPRM1_uc003qpt.1_Silent_p.F89F|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	89					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCGGAAACTTCCTGGTCATGT	0.587000														25			5		0	0	0.003080	0	0
MUC5B	727897	broad.mit.edu	37	11	1254364	1254364	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:1254364G>A	uc001lta.3	+	17	2246	c.2187G>A	c.(2185-2187)gtG>gtA	p.V729V	MUC5B_uc009yct.2_Silent_p.V729V	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	729	TIL 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGTGCCTGTGGACGGCTGCA	0.697000														12			4		0	0	0.000248	0	0
NPNT	255743	broad.mit.edu	37	4	106859511	106859511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:106859511G>A	uc011cfd.2	+	5	742	c.529G>A	c.(529-531)Gga>Aga	p.G177R	NPNT_uc011cfc.2_Missense_Mutation_p.G164R|NPNT_uc011cfe.2_Missense_Mutation_p.G177R|NPNT_uc003hya.3_Missense_Mutation_p.G147R|NPNT_uc011cff.2_Missense_Mutation_p.G147R	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	147	EGF-like 4; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGTTGTTAAAGGACAAATACG	0.517000														53			6		0	0	0.001168	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621039	144621039	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:144621039G>A	uc003yyd.2	-	1	527	c.498C>T	c.(496-498)ccC>ccT	p.P166P		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	166					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GTCCCCGAGGGGGCTCACCTT	0.632000														20			6		0	0	0.001984	0	0
RPA1	6117	broad.mit.edu	37	17	1787173	1787173	+	Missense_Mutation	SNP	G	A	A	rs142406311	byFrequency	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:1787173G>A	uc002fto.2	+	12	1424	c.1309G>A	c.(1309-1311)Ggg>Agg	p.G437R		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	437					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm	metal ion binding|protein binding|single-stranded DNA binding	p.G437W(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CGGAGTCGGAGGGAGTAACAC	0.507000								Nucleotide excision repair (NER)						68			9		0	0	0.004482	0	0
TMC3	342125	broad.mit.edu	37	15	81660664	81660664	+	Missense_Mutation	SNP	G	A	A	rs140022845	by1000genomes	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:81660664G>A	uc021ssk.1	-	2	242	c.242C>T	c.(241-243)gCg>gTg	p.A81V	TMC3_uc021ssj.1_Missense_Mutation_p.A81V|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.A81V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	81						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AATGTTCTTCGCTTGTCTAAG	0.448000														94			9		0	0	0.004482	0	0
ELAVL4	1996	broad.mit.edu	37	1	50610828	50610828	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:50610828G>A	uc001csb.2	+	1	477	c.209G>A	c.(208-210)gGt>gAt	p.G70D	ELAVL4_uc001cry.3_Missense_Mutation_p.G73D|ELAVL4_uc001crz.3_Missense_Mutation_p.G70D|ELAVL4_uc001csa.3_Missense_Mutation_p.G87D|ELAVL4_uc001csc.3_Missense_Mutation_p.G70D|ELAVL4_uc009vyu.3_Missense_Mutation_p.G75D|ELAVL4_uc010omz.2_Missense_Mutation_p.G75D	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	70	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGGAGCATTGGTGAAATAGAA	0.423000														47			7		0	0	0.003080	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317975	154317975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:154317975C>T	uc001fex.3	+	22	2747	c.2747C>T	c.(2746-2748)aCc>aTc	p.T916I		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	902					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTGCTTTCACCATGGTCCAC	0.488000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		146			66		0	0	0.003610	0	0
RYR1	6261	broad.mit.edu	37	19	39038922	39038922	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:39038922G>A	uc002oit.3	+	88	12274	c.12144G>A	c.(12142-12144)gtG>gtA	p.V4048V	RYR1_uc002oiu.3_Silent_p.V4043V|RYR1_uc002oiv.1_Silent_p.V957V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4048					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACATGCTCGTGGAATCCTCAT	0.567000														24			8		0	0	0.000443	0	0
CCDC90B	60492	broad.mit.edu	37	11	82991187	82991187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:82991187G>A	uc001pae.3	-	1	579	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	CCDC90B_uc001pac.3_5'UTR|CCDC90B_uc001pad.3_5'UTR|CCDC90B_uc001paf.3_Missense_Mutation_p.H64Y	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA.	73						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TTCTCACCATGAGTTTCCAAG	0.363000														41			8		0	0	0.000978	0	0
POLR2H	5437	broad.mit.edu	37	3	184086000	184086001	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:184086000_184086001GG>AA	uc003fok.2	+	4	458_459	c.371_372GG>AA	c.(370-372)agg>aAA	p.R124K		NM_006232	NP_006223	P52434	RPAB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide H (POLR2H), mRNA.	124					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex|nucleolus	DNA-directed RNA polymerase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCTCATGAGGCTGCAGGGGG	0.569000														46			7		0	0	0.004672	0	0
MYOZ2	51778	broad.mit.edu	37	4	120107261	120107261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:120107261G>A	uc003icp.4	+	5	914	c.701G>A	c.(700-702)aGg>aAg	p.R234K		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	234							protein phosphatase 2B binding	p.N233N(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TCCTTTAATAGGACTCCTAAG	0.388000														39			11		0	0	0.001368	0	0
ANXA10	11199	broad.mit.edu	37	4	169086467	169086467	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:169086467A>G	uc003irm.3	+	5	634	c.470A>G	c.(469-471)aAc>aGc	p.N157S	ANXA10_uc003irn.3_Missense_Mutation_p.N29S	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	157							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		ACTCTCATGAACTTGGTCCAG	0.323000														33			6		0	0	0.001984	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870548	51870549	+	Missense_Mutation	DNP	GG	AA	AA	rs149724132	byFrequency	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:51870548_51870549GG>AA	uc002xwo.3	+	1	1438_1439	c.551_552GG>AA	c.(550-552)cgg>cAA	p.R184Q	TSHZ2_uc021wex.1_Missense_Mutation_p.R181Q	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	184					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R184W(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTGCCTTCTCGGTCCGTCTCGA	0.559000														38			8		0	0	0.004672	0	0
GABRA6	2559	broad.mit.edu	37	5	161117246	161117246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:161117246G>A	uc003lyu.2	+	6	1051	c.713G>A	c.(712-714)aGg>aAg	p.R238K	GABRA6_uc003lyv.2_Missense_Mutation_p.R9K	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	238					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACTTGCAAAGGAAGATGGGC	0.398000										TCGA Ovarian(5;0.080)				48			6		0	0	0.001984	0	0
DHX33	56919	broad.mit.edu	37	17	5356903	5356903	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:5356903G>A	uc002gca.3	-	7	1594	c.1393C>T	c.(1393-1395)Cca>Tca	p.P465S	DHX33_uc002gbz.3_Missense_Mutation_p.P236S|DHX33_uc002gcb.3_Missense_Mutation_p.P292S|DHX33_uc010clf.3_Missense_Mutation_p.P300S	NM_020162	NP_001186628	Q9H6R0	DHX33_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 33 (DHX33), transcript variant 1, mRNA.	465						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CACTTACCTGGAGATGGCTTC	0.428000														67			8		0	0	0.004482	0	0
MYOM2	9172	broad.mit.edu	37	8	2026819	2026819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:2026819G>A	uc003wpx.4	+	11	1405	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	423	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTGAAGATGTGAAGTAGGAAC	0.373000														52			30		0	0	0.002445	0	0
AGL	178	broad.mit.edu	37	1	100327208	100327208	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:100327208G>A	uc001dsi.1	+	2	632	c.232G>A	c.(232-234)Gat>Aat	p.D78N	AGL_uc001dsj.1_Missense_Mutation_p.D78N|AGL_uc001dsk.1_Missense_Mutation_p.D78N|AGL_uc001dsl.1_Missense_Mutation_p.D78N|AGL_uc001dsm.1_Missense_Mutation_p.D62N|AGL_uc001dsn.1_Missense_Mutation_p.D61N	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	78					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGATGATTCTGATAAATACTG	0.323000														44			6		0	0	0.001168	0	0
SFMBT1	51460	broad.mit.edu	37	3	52939159	52939159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:52939159G>A	uc003dgf.3	-	21	3217	c.2594C>T	c.(2593-2595)gCc>gTc	p.A865V	SFMBT1_uc010hmr.3_Missense_Mutation_p.A769V|SFMBT1_uc003dgg.3_Missense_Mutation_p.A865V|SFMBT1_uc003dgh.3_Missense_Mutation_p.A865V	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	865					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TTCTCAGTTGGCAAACTGCTC	0.448000														37			6		0	0	0.001984	0	0
FAM83G	644815	broad.mit.edu	37	17	18881398	18881398	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:18881398C>T	uc002guw.3	-	4	1748	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	527										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGGGAGCTCCAGGACCCAGC	0.647000														51			10		0	0	0.001368	0	0
UNC13A	23025	broad.mit.edu	37	19	17729741	17729741	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:17729741C>T	uc021uqk.1	-	37	4342	c.4300G>A	c.(4300-4302)Gag>Aag	p.E1434K		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1435	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGACCCAGCTCCTTGGCTGCA	0.567000														45			17		0	0	0.001882	0	0
C1orf192	257177	broad.mit.edu	37	1	161335340	161335340	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:161335340C>T	uc001gal.3	-	3	330	c.324G>A	c.(322-324)ggG>ggA	p.G108G		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA.	108										endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAGGACACAGCCCATTGGAGG	0.458000														85			47		0	0	0.003610	0	0
TATDN2	9797	broad.mit.edu	37	3	10320601	10320602	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:10320601_10320602GG>AA	uc011atr.2	+	6	2759_2760	c.2178_2179GG>AA	c.(2176-2181)ccgggc>ccAAgc	p.G727S	TATDN2_uc003bvg.2_Missense_Mutation_p.G727S|TATDN2_uc003bvf.3_Missense_Mutation_p.G727S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript|TATDN2_uc011atu.1_5'Flank|TATDN2_uc011atv.1_5'Flank|TATDN2_uc011atw.1_5'Flank|TATDN2_uc011auf.2_5'Flank|TATDN2_uc011aug.2_5'Flank|TATDN2_uc011atx.2_5'Flank|TATDN2_uc011aty.2_5'Flank|TATDN2_uc011atz.2_5'Flank|TATDN2_uc011aua.2_5'Flank|TATDN2_uc010hdl.3_5'Flank|TATDN2_uc011aub.2_5'Flank|TATDN2_uc010hdm.3_5'Flank|TATDN2_uc011auc.2_5'Flank|TATDN2_uc011aud.2_5'Flank|TATDN2_uc011aue.2_5'Flank	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	727						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ATGCCCACCCGGGCCTGGCCTT	0.535000														30			4		0	0	0.004672	0	0
SLC35F3	148641	broad.mit.edu	37	1	234452464	234452465	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:234452464_234452465CC>TT	uc001hvy.1	+	4	1090_1091	c.945_946CC>TT	c.(943-948)gccctc>gcTTtc	p.L316F	SLC35F3_uc001hwa.1_Missense_Mutation_p.L247F	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	247					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGATGTCTGCCCTCTACAAGGT	0.574000														59			8		0	0	0.004672	0	0
KIAA1614	57710	broad.mit.edu	37	1	180885966	180885966	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:180885966C>T	uc001gok.2	+	1	794	c.727C>T	c.(727-729)Cct>Tct	p.P243S		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	243										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AAGGTCCTACCCTTTTCCAGA	0.587000														76			52		0	0	0.003610	0	0
MCF2	4168	broad.mit.edu	37	X	138669924	138669924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:138669924G>A	uc011mwn.1	-	24	2914	c.2908C>T	c.(2908-2910)Caa>Taa	p.Q970*	MCF2_uc004fav.3_Nonsense_Mutation_p.Q841*|MCF2_uc004fau.3_Nonsense_Mutation_p.Q825*|MCF2_uc010nsh.2_Nonsense_Mutation_p.Q825*|MCF2_uc011mwm.2_Nonsense_Mutation_p.Q786*|MCF2_uc011mwl.2_Nonsense_Mutation_p.Q802*|MCF2_uc011mwo.1_Nonsense_Mutation_p.Q901*|MCF2_uc004faw.2_Nonsense_Mutation_p.Q885*	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	825					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTGTTAATTGATCCTGTTGC	0.333000														42			21		0	0	0.002299	0	0
CYP3A7	1551	broad.mit.edu	37	7	99273788	99273788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:99273788G>A	uc003urq.3	-	1	217	c.115C>T	c.(115-117)Cca>Tca	p.P39S	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_Missense_Mutation_p.P29S|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.P39S	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	39					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTGGGCCCTGGAATTCCCAGT	0.453000														40			14		0	0	0.000958	0	0
JHDM1D	80853	broad.mit.edu	37	7	139833371	139833371	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:139833371G>A	uc003vvm.3	-	2	370	c.366C>T	c.(364-366)ttC>ttT	p.F122F		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	122					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATTCCTTAATGAAAGTTCTAG	0.373000														36			15		0	0	0.002450	0	0
MYH2	4620	broad.mit.edu	37	17	10429120	10429120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:10429120C>T	uc010coi.3	-	30	4389	c.4261G>A	c.(4261-4263)Gaa>Aaa	p.E1421K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1421K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1421					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCGTCTTTTCGAGGGAAGCA	0.512000														50			6		0	0	0.003080	0	0
ABCC6	368	broad.mit.edu	37	16	16282690	16282690	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:16282690G>A	uc002den.4	-	12	1814	c.1777C>T	c.(1777-1779)Cag>Tag	p.Q593*	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Nonsense_Mutation_p.Q605*	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	593	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V592I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CACCTCACCTGGACGAGGGAG	0.572000														13			4		0	0	0.000602	0	0
CNGB3	54714	broad.mit.edu	37	8	87738864	87738864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:87738864G>A	uc003ydx.3	-	2	281	c.233C>T	c.(232-234)tCc>tTc	p.S78F		NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	78					signal transduction|visual perception	integral to membrane	cGMP binding	p.S78F(2)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						ATCTCCAGAGGAATTTTTCTT	0.428000														209			17		0	0	0.000958	0	0
MYH9	4627	broad.mit.edu	37	22	36702035	36702035	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:36702035G>A	uc003apg.3	-	16	2331	c.2100C>T	c.(2098-2100)ggC>ggT	p.G700G	MYH9_uc003aph.1_Silent_p.G564G	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	700	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGATACGGATGCCCTCGAGAA	0.642000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					64			9		0	0	0.004482	0	0
GLCE	26035	broad.mit.edu	37	15	69548413	69548414	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:69548413_69548414GG>TA	uc002ary.1	+	2	496_497	c.268_269GG>TA	c.(268-270)ggc>TAc	p.G90Y		NM_015554	NP_056369	O94923	GLCE_HUMAN	Homo sapiens glucuronic acid epimerase (GLCE), mRNA.	90					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TGTTGTTGGGGGCTTCAATAGC	0.455000														42			7		0	0	0.004672	0	0
FBXO42	54455	broad.mit.edu	37	1	16577797	16577797	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:16577797G>A	uc001ayg.3	-	9	1738	c.1522C>T	c.(1522-1524)Ccc>Tcc	p.P508S	FBXO42_uc001ayf.3_Missense_Mutation_p.P415S	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	508										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTGGAAGCGGGTTTCAGATCC	0.488000														53			5		0	0	0.001168	0	0
IKZF3	22806	broad.mit.edu	37	17	37922309	37922309	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:37922309G>A	uc002hsu.3	-	7	1326	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	IKZF3_uc002htd.3_Missense_Mutation_p.P388S|IKZF3_uc010cwd.3_Missense_Mutation_p.P279S|IKZF3_uc002hsv.3_Missense_Mutation_p.P349S|IKZF3_uc010cwe.3_Missense_Mutation_p.P288S|IKZF3_uc010cwf.3_Missense_Mutation_p.P240S|IKZF3_uc010cwg.3_Missense_Mutation_p.P201S|IKZF3_uc002hsw.3_Missense_Mutation_p.P383S|IKZF3_uc002hsx.3_Missense_Mutation_p.P366S|IKZF3_uc002hsy.3_Missense_Mutation_p.P383S|IKZF3_uc002hsz.3_Missense_Mutation_p.P327S|IKZF3_uc002hta.3_Missense_Mutation_p.P344S|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.P335S|IKZF3_uc002htc.3_Missense_Mutation_p.P175S|IKZF3_uc010wel.2_Missense_Mutation_p.P175S	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	422					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TAAGAGCGGGGAACCTCCTTC	0.537000														63			16		0	0	0.004007	0	0
CFH	3075	broad.mit.edu	37	1	196887503	196887503	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:196887503G>A	uc001gtp.3	+	9	1841	c.1704G>A	c.(1702-1704)agG>agA	p.R568R	CFH_uc021pgt.1_Silent_p.R191R|CFH_uc009wyy.3_Silent_p.R567R|CFH_uc001gto.3_Silent_p.R321R	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	1219	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAGTGTGTAGGGAAGGCATAG	0.378000														72			8		0	0	0.000673	0	0
PDE10A	10846	broad.mit.edu	37	6	165827142	165827142	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:165827142C>T	uc003qun.3	-	13	1340	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Silent_p.R295R|PDE10A_uc003quo.3_Silent_p.R375R	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	365	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	ACAGGATGTTCCGCGTGGTGT	0.473000														23			7		0	0	0.001984	0	0
FOXS1	2307	broad.mit.edu	37	20	30432786	30432786	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:30432786C>G	uc002wwt.1	-	0	635	c.560G>C	c.(559-561)cGg>cCg	p.R187P		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	187					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P186P(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CATGGGTGGCCGAGGCCTGCC	0.627000														24			10		0	0	0.000673	0	0
GDF5	8200	broad.mit.edu	37	20	34022260	34022260	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:34022260C>T	uc010gfc.1	-	1	1194	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	GDF5OS_uc002xcj.3_Missense_Mutation_p.P224L|GDF5_uc002xck.1_Missense_Mutation_p.R318Q	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	318					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGCCCTGCCCCGTTCCCAGGC	0.657000														9			4		0	0	0.000248	0	0
RP1	6101	broad.mit.edu	37	8	55534734	55534734	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:55534734G>A	uc003xsd.1	+	2	821	c.673G>A	c.(673-675)Gag>Aag	p.E225K	RP1_uc011ldy.1_Missense_Mutation_p.E225K	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	225	Doublecortin 2.				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			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)			GGCAGGAAGGGAGCCATTTAA	0.483000														24			9		0	0	0.000443	0	0
NCAPD2	9918	broad.mit.edu	37	12	6624077	6624077	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:6624077G>A	uc001qoo.2	+	8	1024	c.978G>A	c.(976-978)ctG>ctA	p.L326L	NCAPD2_uc009zen.1_Silent_p.L198L|NCAPD2_uc010sfd.1_Silent_p.L281L	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	326	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TAGATCACCTGGATGGAGAAG	0.473000														44			11		0	0	0.000978	0	0
AQP2	359	broad.mit.edu	37	12	50347952	50347952	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:50347952G>A	uc001rvn.3	+	1	465	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	125			T -> M (in ANDI).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCAACAGCACGACGGCTGGCC	0.632000														49			10		0	0	0.001368	0	0
MTSS1	9788	broad.mit.edu	37	8	125716371	125716371	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:125716371C>T	uc003yrl.2	-	2	668	c.134_splice	c.e2+1	p.R45_splice	MTSS1_uc003yrj.2_Splice_Site_p.R45_splice|MTSS1_uc003yrk.2_Splice_Site_p.R45_splice	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	45	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCTACTTACCGAAGCTGGGA	0.448000														61			12		0	0	0.000978	0	0
EP400	57634	broad.mit.edu	37	12	132522579	132522579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:132522579C>T	uc001ujn.3	+	31	6297	c.6145C>T	c.(6145-6147)Ctt>Ttt	p.L2049F	EP400_uc021rgq.1_Missense_Mutation_p.L2048F|EP400_uc001ujm.3_Missense_Mutation_p.L1968F	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2085	Helicase C-terminal.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GTTTGTGGTGCTTTCTCAGGA	0.468000														72			12		0	0	0.002450	0	0
TOX2	84969	broad.mit.edu	37	20	42694499	42694499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:42694499C>T	uc010ggo.3	+	6	1148	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	TOX2_uc002xle.4_Missense_Mutation_p.P328S|TOX2_uc010ggp.3_Missense_Mutation_p.P328S|TOX2_uc002xlf.4_Missense_Mutation_p.P352S|TOX2_uc010zwk.2_Missense_Mutation_p.P248S	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGGGGCCTCCCCTGCCAGCCT	0.697000														33			9		0	0	0.000673	0	0
PCLO	27445	broad.mit.edu	37	7	82764395	82764395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:82764395G>A	uc003uhx.2	-	2	2760	c.2471C>T	c.(2470-2472)cCt>cTt	p.P824L	PCLO_uc003uhv.2_Missense_Mutation_p.P824L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	770	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P824L(6)|p.P770L(2)|p.R823L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATCTGATGCAGGTCGAGGTAT	0.438000														141			24		0	0	0.003954	0	0
CEP152	22995	broad.mit.edu	37	15	49054838	49054838	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:49054838T>C	uc001zwz.3	-	17	2505	c.2312A>G	c.(2311-2313)aAg>aGg	p.K771R	CEP152_uc001zwy.3_Missense_Mutation_p.K771R|CEP152_uc001zxa.2_Missense_Mutation_p.K678R	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	771					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGCCACTCCTTTTCAAGCTG	0.338000														55			6		0	0	0.001984	0	0
KLK13	26085	broad.mit.edu	37	19	51563731	51563732	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:51563731_51563732GA>AC	uc002pvn.3	-	1	240_241	c.197_198TC>GT	c.(196-198)gtc>gGT	p.V66G	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Missense_Mutation_p.V66G|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Missense_Mutation_p.V66G	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	66	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		ATTTGGGGTGGACCAGGACTCC	0.614000														32			8		0	0	0.004672	0	0
JRK	8629	broad.mit.edu	37	8	143747283	143747283	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:143747283G>A	uc003ywp.3	-	1	709	c.195C>T	c.(193-195)ttC>ttT	p.F65F	JRK_uc003ywo.3_Silent_p.F65F|JRK_uc022bcb.1_Non-coding_Transcript|JRK_uc022bcc.1_5'Flank	NM_003724	NP_003715			Homo sapiens jerky homolog (mouse) (JRK), transcript variant 1, mRNA.													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				agctggcgaagaaccggagca	0.642000														12			6		0	0	0.001984	0	0
ATG14	22863	broad.mit.edu	37	14	55836569	55836569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:55836569G>A	uc001xbx.2	-	9	1283	c.1247C>T	c.(1246-1248)tCa>tTa	p.S416L	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S303L	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	416					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GCTCTCATCTGATTCTCCAGC	0.542000														41			9		0	0	0.000978	0	0
TTLL2	83887	broad.mit.edu	37	6	167753853	167753853	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:167753853G>A	uc003qvs.1	+	2	553	c.465G>A	c.(463-465)agG>agA	p.R155R		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	155	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGCTTACCAGGAAAGACTGTT	0.507000														20			4		0	0	0.000248	0	0
TSC22D1	8848	broad.mit.edu	37	13	45008793	45008793	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr13:45008793G>A	uc001uzn.4	-	2	3682	c.3191C>T	c.(3190-3192)cCa>cTa	p.P1064L	TSC22D1_uc001uzo.2_Intron|TSC22D1_uc001uzm.4_Missense_Mutation_p.P135L|TSC22D1_uc021riz.1_Missense_Mutation_p.P77L|TSC22D1_uc021rja.1_Missense_Mutation_p.P77L	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	1064					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CTGCGATGCTGGCTGGGCGGG	0.652000														24			4		0	0	0.000602	0	0
OR8H2	390151	broad.mit.edu	37	11	55872953	55872953	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:55872953C>T	uc010riy.2	+	0	435	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TCGCTCTCATCACTGGGCCTT	0.448000										HNSCC(53;0.14)				81			8		0	0	0.003080	0	0
CCDC83	220047	broad.mit.edu	37	11	85627226	85627226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:85627226G>A	uc001pbg.1	+	10	1635	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	CCDC83_uc001pbh.1_Missense_Mutation_p.G344R|CCDC83_uc001pbj.1_Missense_Mutation_p.G244R|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	344										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CACAGAGTTTGGGGACACTGA	0.358000														106			13		0	0	0.001855	0	0
PLCB1	23236	broad.mit.edu	37	20	8696984	8696984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:8696984G>A	uc002wnb.3	+	12	1327	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	PLCB1_uc010zrb.1_Missense_Mutation_p.E341K|PLCB1_uc002wna.3_Missense_Mutation_p.E442K|PLCB1_uc002wnc.1_Missense_Mutation_p.E341K|PLCB1_uc002wnd.1_Missense_Mutation_p.E19K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	442	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GGAGCCCCTGGAAAAATATCC	0.438000														28			11		0	0	0.001368	0	0
PCSK1	5122	broad.mit.edu	37	5	95746679	95746679	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:95746679C>T	uc003kls.2	-	7	1133	c.894G>A	c.(892-894)ggG>ggA	p.G298G	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Silent_p.G251G	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	298	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGACCCCTTCCCCTGTCTCC	0.473000														41			6		0	0	0.004482	0	0
MAPK3	5595	broad.mit.edu	37	16	30128278	30128278	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:30128278C>T	uc002dws.3	-	6	1054	c.954G>A	c.(952-954)cgG>cgA	p.R318R	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Silent_p.R204R|MAPK3_uc002dwv.4_Silent_p.R274R|MAPK3_uc002dwt.3_Silent_p.R318R	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	318	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	CCACTGTGATCCGTTTATTGG	0.602000														90			17		0	0	0.001523	0	0
MYO1F	4542	broad.mit.edu	37	19	8606848	8606848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:8606848C>T	uc002mkg.3	-	14	1690	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	518	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGTTCCTCTCGCAGAAGCCG	0.617000														24			5		0	0	0.001984	0	0
NAT10	55226	broad.mit.edu	37	11	34156825	34156825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:34156825C>T	uc001mvk.3	+	18	2259	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	NAT10_uc010ren.2_Missense_Mutation_p.T600I	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	672	N-acetyltransferase.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAATTCACACCGTAAGCAGC	0.507000														52			8		0	0	0.003080	0	0
RGS22	26166	broad.mit.edu	37	8	101016257	101016257	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:101016257C>T	uc003yjb.1	-	16	2719	c.2524G>A	c.(2524-2526)Gat>Aat	p.D842N	RGS22_uc003yja.1_Missense_Mutation_p.D661N|RGS22_uc003yjc.1_Missense_Mutation_p.D830N|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.D231N|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	842					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.W841C(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GGAACATTATCCCAATATTCT	0.358000														32			5		0	0	0.001168	0	0
MRO	83876	broad.mit.edu	37	18	48333145	48333145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr18:48333145C>T	uc010dpa.3	-	2	366	c.217G>A	c.(217-219)Gac>Aac	p.D73N	MRO_uc010xdn.2_Missense_Mutation_p.D59N|MRO_uc002lew.4_Missense_Mutation_p.D59N|MRO_uc010dpb.3_Missense_Mutation_p.D73N|MRO_uc010dpc.3_Missense_Mutation_p.D59N|MRO_uc002lex.4_Missense_Mutation_p.D59N	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	59						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GCACTGGGGTCCCGAGCTCTT	0.512000														76			25		0	0	0.003954	0	0
MAN2A2	4122	broad.mit.edu	37	15	91448664	91448665	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:91448664_91448665CC>TT	uc010bnz.2	+	2	431_432	c.316_317CC>TT	c.(316-318)ccc>TTc	p.P106F	MAN2A2_uc010boa.3_Missense_Mutation_p.P148F|MAN2A2_uc002bqc.3_Missense_Mutation_p.P106F|MAN2A2_uc010uql.2_5'Flank|MAN2A2_uc010uqm.2_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	106					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAGCCCCGGCCCAGCTTCTTC	0.658000														133			12		0	0	0.004672	0	0
FAM5C	339479	broad.mit.edu	37	1	190250796	190250796	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:190250796G>A	uc001gse.1	-	2	553	c.321C>T	c.(319-321)ttC>ttT	p.F107F	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	107						extracellular region		p.F107L(2)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGTTGCGGAAGAATTCAGGGG	0.433000														20			13		0	0	0.004007	0	0
ADAM28	10863	broad.mit.edu	37	8	24200663	24200663	+	Missense_Mutation	SNP	C	T	T	rs139411715		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:24200663C>T	uc003xdy.3	+	16	1963	c.1880C>T	c.(1879-1881)aCc>aTc	p.T627I	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.T314I	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	627	Cys-rich.|EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TACAAATCAACCAATTGCTCA	0.368000														44			9		0	0	0.000443	0	0
PDE1A	5136	broad.mit.edu	37	2	183104998	183104998	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:183104998A>C	uc002uos.3	-	3	321	c.237T>G	c.(235-237)gaT>gaG	p.D79E	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Missense_Mutation_p.D79E|PDE1A_uc010zfq.1_Missense_Mutation_p.D79E|PDE1A_uc002uor.3_Missense_Mutation_p.D63E|PDE1A_uc002uou.3_Missense_Mutation_p.D45E	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	79					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CACTGAGCTCATCTTCAGTAT	0.363000														38			5		0	0	0.000602	0	0
SI	6476	broad.mit.edu	37	3	164716418	164716418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:164716418G>A	uc003fei.3	-	37	4513	c.4450C>T	c.(4450-4452)Cgt>Tgt	p.R1484C		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1484	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TACGTGGAACGAGAAATTACA	0.383000										HNSCC(35;0.089)				50			6		0	0	0.003080	0	0
GOLGA4	2803	broad.mit.edu	37	3	37367211	37367211	+	Silent	SNP	T	C	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:37367211T>C	uc003cgv.3	+	13	4194	c.3834T>C	c.(3832-3834)ctT>ctC	p.L1278L	GOLGA4_uc010hgr.2_Silent_p.L839L|GOLGA4_uc003cgw.3_Silent_p.L1300L|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Silent_p.L1159L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1278	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGCACAACTTAGACAGTTGA	0.353000														32			15		0	0	0.003163	0	0
GAS2	2620	broad.mit.edu	37	11	22833509	22833509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:22833509G>A	uc009yie.3	+	7	1195	c.889G>A	c.(889-891)Gat>Aat	p.D297N	GAS2_uc001mqm.3_Missense_Mutation_p.D297N|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.D297N	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	297					cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CATGAATCCAGATAACTACTT	0.458000														33			4		0	0	0.000602	0	0
ATP8B1	5205	broad.mit.edu	37	18	55399013	55399013	+	Silent	SNP	C	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr18:55399013C>A	uc002lgw.3	-	1	147	c.27G>T	c.(25-27)acG>acT	p.T9T	LOC100505549_uc002lgv.1_Non-coding_Transcript	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	9					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CGTCAAATGTCGTTTCTGAGT	0.433000														82			18		9.57634e-11	4.89735e-10	0.003330	1	0
KIF9	64147	broad.mit.edu	37	3	47282423	47282423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:47282423C>T	uc010hjp.3	-	17	2396	c.1792G>A	c.(1792-1794)Gaa>Aaa	p.E598K	KIF9_uc003cqx.3_Missense_Mutation_p.E598K|KIF9_uc003cqy.3_Missense_Mutation_p.E533K|KIF9_uc011bat.1_Non-coding_Transcript|FLJ39534_uc003cqw.2_Intron	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	598					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GATTTGTTTTCTTTGAAAATT	0.488000														69			21		0	0	0.002299	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455626	72455626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:72455626G>A	uc002atq.3	-	9	961	c.937C>T	c.(937-939)Ctc>Ttc	p.L313F	GRAMD2_uc010bis.2_Missense_Mutation_p.L313F|GRAMD2_uc010ukh.2_Missense_Mutation_p.L107F	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	313						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						AAGACCTTGAGGAGCCGGTAA	0.562000														33			8		0	0	0.004482	0	0
SLC9C1	285335	broad.mit.edu	37	3	111996615	111996615	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:111996615G>A	uc003dyu.3	-	4	633	c.411C>T	c.(409-411)acC>acT	p.T137T	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Silent_p.T137T	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	137					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										ATAACCATTGGGTAGGCTTCA	0.358000														54			12		0	0	0.000978	0	0
MORC1	27136	broad.mit.edu	37	3	108751625	108751625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:108751625C>T	uc003dxl.3	-	15	1594	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	MORC1_uc011bhn.2_Missense_Mutation_p.E503K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	503					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCTTTTTCCTGATAATTA	0.289000														45			10		0	0	0.001368	0	0
BRWD3	254065	broad.mit.edu	37	X	79945479	79945479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:79945479G>A	uc004edt.3	-	31	3978	c.3715C>T	c.(3715-3717)Ctt>Ttt	p.L1239F	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.L1068F|BRWD3_uc004edq.3_Missense_Mutation_p.L835F|BRWD3_uc010nmj.2_Missense_Mutation_p.L835F|BRWD3_uc004edr.3_Missense_Mutation_p.L909F|BRWD3_uc004eds.3_Missense_Mutation_p.L835F|BRWD3_uc004edo.3_Missense_Mutation_p.L835F|BRWD3_uc004edu.3_Missense_Mutation_p.L909F|BRWD3_uc004edv.3_Missense_Mutation_p.L835F|BRWD3_uc004edw.3_Missense_Mutation_p.L835F|BRWD3_uc004edx.3_Missense_Mutation_p.L835F|BRWD3_uc004edy.3_Missense_Mutation_p.L835F|BRWD3_uc004edz.3_Missense_Mutation_p.L909F|BRWD3_uc004eea.3_Missense_Mutation_p.L909F|BRWD3_uc004eeb.3_Missense_Mutation_p.L835F	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1239										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATAAATCGAAGTAAGACATCA	0.299000														6			4		0	0	0.001168	0	0
MRPL28	10573	broad.mit.edu	37	16	418402	418402	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:418402G>C	uc002cgs.2	-	4	667	c.589C>G	c.(589-591)Cca>Gca	p.P197A		NM_006428	NP_006419	Q13084	RM28_HUMAN	Homo sapiens mitochondrial ribosomal protein L28 (MRPL28), nuclear gene encoding mitochondrial protein, mRNA.	197					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				TCCTCCTCTGGGATGGCAAAT	0.622000														43			11		0	0	0.001368	0	0
TMCO4	255104	broad.mit.edu	37	1	20066390	20066390	+	Missense_Mutation	SNP	G	A	A	rs145902797		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:20066390G>A	uc001bcn.3	-	11	1348	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L	TMCO4_uc001bco.1_Missense_Mutation_p.P369L|TMCO4_uc001bcp.1_Missense_Mutation_p.P329L	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	369						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CACCCCCCAGGGGTTGTCGAT	0.617000														36			5		0	0	0.001984	0	0
VWA3A	146177	broad.mit.edu	37	16	22132294	22132294	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:22132294C>T	uc010vbq.2	+	12	1218	c.1122C>T	c.(1120-1122)tcC>tcT	p.S374S	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Silent_p.S361S	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	374						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTTAGATTTCCACAGAGATTA	0.438000														15			8		0	0	0.004482	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562470	140562470	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:140562470C>T	uc003liv.3	+	0	1491	c.336C>T	c.(334-336)aaC>aaT	p.N112N		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	112	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGGAAAACCCTTTAGAAA	0.398000														14			4		0	0	0.000602	0	0
SART1	9092	broad.mit.edu	37	11	65733863	65733863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:65733863G>A	uc001ogl.3	+	8	1116	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	SART1_uc010rot.1_Silent_p.L227L	NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	342					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGAAGAGCTTGAAGGGGAGCG	0.622000														22			4		0	0	0.000602	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:128302184C>T	uc003kuy.3	+	1	750	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_uc003kuz.3_Silent_p.F118F	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	118					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567000														14			4		0	0	0.000248	0	0
SDK2	54549	broad.mit.edu	37	17	71354240	71354240	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:71354240G>A	uc010dfm.3	-	39	5571	c.5571C>T	c.(5569-5571)taC>taT	p.Y1857Y	SDK2_uc002jjt.4_Silent_p.Y997Y|SDK2_uc010dfn.2_Silent_p.Y1536Y	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1857	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTCGATGACGTAGCGGGTGA	0.652000														131			12		0	0	0.001855	0	0
SLC2A7	155184	broad.mit.edu	37	1	9074868	9074868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:9074868C>T	uc009vmo.1	-	6	775	c.775G>A	c.(775-777)Gag>Aag	p.E259K		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	259						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.E259K(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCGGGCCTCCGCACGCATG	0.687000														2			3		0	0	0.004672	0	0
C1orf105	92346	broad.mit.edu	37	1	172434488	172434488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:172434488G>A	uc001gik.3	+	5	589	c.391G>A	c.(391-393)Gat>Aat	p.D131N		NM_139240	NP_640333	O95561	CA105_HUMAN	Homo sapiens chromosome 1 open reading frame 105 (C1orf105), mRNA.	131										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						GCCTTTCCATGATGACATCCC	0.368000														70			8		0	0	0.000443	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121650643	121650643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:121650643G>A	uc003vjy.3	+	11	1938	c.1543G>A	c.(1543-1545)Gat>Aat	p.D515N	PTPRZ1_uc011knt.2_Missense_Mutation_p.D515N|PTPRZ1_uc003vjz.3_Missense_Mutation_p.D515N	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	515					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CACAGAAAAAGATATTTCCTT	0.413000														48			23		0	0	0.002780	0	0
HIPK2	28996	broad.mit.edu	37	7	139311392	139311392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:139311392G>A	uc003vvf.4	-	5	1845	c.1574C>T	c.(1573-1575)cCc>cTc	p.P525L	HIPK2_uc003vvd.4_Missense_Mutation_p.P525L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	525	Protein kinase.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGTGACAAAGGGATGGTTCAG	0.498000														17			9		0	0	0.004482	0	0
RERG	85004	broad.mit.edu	37	12	15262345	15262345	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:15262345T>C	uc001rcs.3	-	3	439	c.299A>G	c.(298-300)aAc>aGc	p.N100S	RERG_uc001rct.3_Missense_Mutation_p.N100S|RERG_uc010shu.2_Missense_Mutation_p.N81S	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	100					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ATCTAGGATGTTCTTAAGTGG	0.493000														157			31		0	0	0.002096	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163850	150163851	+	Missense_Mutation	DNP	GG	AA	AA	rs150937690		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:150163850_150163851GG>AA	uc003whj.3	+	1	394_395	c.64_65GG>AA	c.(64-66)gga>AAa	p.G22K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	22						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.G22G(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ATGCCGCTCGGGAAAAAGTGCC	0.525000														43			12		0	0	0.004672	0	0
KLC1	3831	broad.mit.edu	37	14	104056554	104056554	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:104056554C>T	uc010tyc.2	+	4	553	c.552C>T	c.(550-552)ttC>ttT	p.F184F	KLC1_uc010tyd.1_Intron	NM_032374	NP_115750	Q07866	KLC1_HUMAN	Homo sapiens apoptogenic 1 (APOPT1), mRNA.	0					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TCACCTTCTTCATGGGAAAAG	0.512000														116			8		0	0	0.004482	0	0
C7orf34	135927	broad.mit.edu	37	7	142637485	142637486	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:142637485_142637486GG>AA	uc003wca.2	+	1	296_297	c.255_256GG>AA	c.(253-258)gtgggt>gtAAgt	p.G86S		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	61						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CCTCCTCAGTGGGTGAGATGTG	0.550000														53			26		0	0	0.004672	0	0
TEX15	56154	broad.mit.edu	37	8	30703356	30703356	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:30703356T>C	uc003xil.3	-	0	3178	c.3178A>G	c.(3178-3180)Act>Gct	p.T1060A		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1060										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAATGCTTAGTAGAATAATAT	0.328000														43			15		0	0	0.003163	0	0
NEFM	4741	broad.mit.edu	37	8	24774698	24774698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:24774698C>T	uc003xed.4	+	2	1363	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	NEFM_uc011lac.1_Missense_Mutation_p.P444S|NEFM_uc010lue.3_Missense_Mutation_p.P68S	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	444	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGTGGAAGCTCCCAAGCTTAA	0.463000														33			4		0	0	0.000602	0	0
CYFIP1	23191	broad.mit.edu	37	15	22933600	22933600	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:22933600C>T	uc001yus.3	+	6	713	c.609C>T	c.(607-609)tcC>tcT	p.S203S	CYFIP1_uc001yut.3_Silent_p.S203S|CYFIP1_uc010aya.1_Silent_p.S231S	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	203					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATCCACAGTCCATCCAGGAAT	0.438000														28			5		0	0	0.001168	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56736307	56736307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:56736307C>T	uc002qmq.3	-	1	275	c.109G>A	c.(109-111)Gac>Aac	p.D37N	ZSCAN5A_uc010ygi.2_Intron|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.D37N|ZSCAN5A_uc002qms.1_Missense_Mutation_p.D37N	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	37					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGGTCCACGTCGTGATTTCCA	0.527000														52			5		0	0	0.001168	0	0
PDE5A	8654	broad.mit.edu	37	4	120528041	120528041	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:120528041G>A	uc003idh.3	-	1	719	c.564C>T	c.(562-564)ttC>ttT	p.F188F	PDE5A_uc003idf.3_Silent_p.F146F|PDE5A_uc003idg.3_Silent_p.F136F	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	188	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	CACAGACAAGGAACAGGGAAT	0.408000														56			15		0	0	0.004990	0	0
WDR3	10885	broad.mit.edu	37	1	118501935	118501935	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:118501935G>A	uc010oxe.1	+	26	2763	c.2697G>A	c.(2695-2697)atG>atA	p.M899I	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	899						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GCTTCAATATGGCTGGTCTTG	0.393000														31			12		0	0	0.002450	0	0
PARP1	142	broad.mit.edu	37	1	226564912	226564912	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:226564912T>C	uc001hqd.4	-	12	2009	c.1838A>G	c.(1837-1839)cAc>cGc	p.H613R		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	613				H -> Q (in Ref. 3; AAA60155).	cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTTCATGAAGTGCTCAATGGC	0.478000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						234			9		0	0	0.000673	0	0
KRT75	9119	broad.mit.edu	37	12	52827645	52827645	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:52827645C>T	uc001saj.2	-	0	466	c.444G>A	c.(442-444)gaG>gaA	p.E148E		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	148	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCTCGCGCTCCTCGGCCCGCA	0.562000														45			13		0	0	0.002450	0	0
COL6A3	1293	broad.mit.edu	37	2	238303716	238303716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:238303716C>T	uc002vwl.2	-	2	508	c.223G>A	c.(223-225)Gat>Aat	p.D75N	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.D75N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	75	Nonhelical region.|VWFA 1.				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)		AAATGGAAATCATTTTCTCCC	0.388000														24			10		0	0	0.000978	0	0
CNTN6	27255	broad.mit.edu	37	3	1444027	1444027	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:1444027G>C	uc003boz.3	+	21	3110	c.2843G>C	c.(2842-2844)aGt>aCt	p.S948T	CNTN6_uc011asj.2_Missense_Mutation_p.S876T|CNTN6_uc003bpa.3_Missense_Mutation_p.S948T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	948	Fibronectin type-III 4.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACAGACAGAGTAAAACTCAT	0.368000														31			8		0	0	0.000443	0	0
ZNF830	91603	broad.mit.edu	37	17	33289448	33289449	+	Missense_Mutation	DNP	CC	TT	TT	rs143227754	byFrequency	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:33289448_33289449CC>TT	uc002hih.4	+	0	900_901	c.863_864CC>TT	c.(862-864)tcc>tTT	p.S288F	CCT6B_uc002hig.3_5'Flank|CCT6B_uc010ctg.3_5'Flank|CCT6B_uc010wcc.2_5'Flank	NM_052857	NP_443089	Q96NB3	ZN830_HUMAN	Homo sapiens zinc finger protein 830 (ZNF830), mRNA.	288					cell division|mitosis	cytoplasm|nucleus	metal ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AACACTATTTCCGAAGCCATAG	0.500000														48			6		0	0	0.004672	0	0
DRP2	1821	broad.mit.edu	37	X	100497922	100497922	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:100497922C>T	uc004egz.2	+	8	1374	c.1005C>T	c.(1003-1005)ctC>ctT	p.L335L	DRP2_uc011mrh.1_Silent_p.L257L	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	335					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TTAAGCAGCTCCAGGATGCCC	0.532000														21			13		0	0	0.002450	0	0
ENPP2	5168	broad.mit.edu	37	8	120620200	120620200	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:120620200G>A	uc003yos.2	-	8	881	c.795C>T	c.(793-795)acC>acT	p.T265T	ENPP2_uc010mdd.2_Silent_p.T265T|ENPP2_uc003yot.2_Silent_p.T265T	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	265					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCCCTTGCTTGGTGGCTGTAA	0.318000														18			4		0	0	0.000602	0	0
TMCC3	57458	broad.mit.edu	37	12	94965246	94965246	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:94965246G>A	uc001tdj.2	-	3	1517	c.1399C>T	c.(1399-1401)Ctg>Ttg	p.L467L	TMCC3_uc001tdi.2_Silent_p.L436L	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	467						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATGGCACACAGGATATGGTCC	0.408000														31			6		0	0	0.001168	0	0
CWC25	54883	broad.mit.edu	37	17	36971165	36971165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:36971165G>A	uc002hqu.3	-	2	530	c.377C>T	c.(376-378)tCc>tTc	p.S126F	CWC25_uc010wdv.2_Missense_Mutation_p.S63F|CWC25_uc010wdw.1_Non-coding_Transcript|CWC25_uc010wdx.1_Non-coding_Transcript	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	126										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GTCAAGAAGGGAATTGGCACC	0.507000														25			8		0	0	0.004482	0	0
TRRAP	8295	broad.mit.edu	37	7	98609128	98609128	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:98609128C>T	uc003upp.3	+	70	11474	c.11265C>T	c.(11263-11265)gtC>gtT	p.V3755V	TRRAP_uc011kis.2_Silent_p.V3726V|TRRAP_uc003upr.3_Silent_p.V3461V|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3755	PI3K/PI4K.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGATTGCGGTCGCCCGGTGCT	0.607000														38			13		0	0	0.002450	0	0
CDH18	1016	broad.mit.edu	37	5	19721469	19721469	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:19721469G>A	uc003jgd.3	-	4	1164	c.630C>T	c.(628-630)gtC>gtT	p.V210V	CDH18_uc011cnm.2_Silent_p.V210V|CDH18_uc003jgc.3_Silent_p.V210V|CDH18_uc021xwu.1_Silent_p.V210V	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	210	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V210I(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTTTAGGGTCGACGGAGAAGT	0.453000														67			10		0	0	0.000978	0	0
TSSK4	283629	broad.mit.edu	37	14	24675720	24675720	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:24675720G>A	uc001wnh.3	+	1	435	c.231G>A	c.(229-231)atG>atA	p.M77I	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Missense_Mutation_p.M1I|TSSK4_uc001wnf.3_5'UTR|TSSK4_uc001wng.3_Missense_Mutation_p.M77I	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	77	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		GTCAGGTAATGAAAGTCTTGC	0.517000														32			6		0	0	0.001984	0	0
FRMPD1	22844	broad.mit.edu	37	9	37707446	37707446	+	Silent	SNP	G	A	A	rs112589819		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr9:37707446G>A	uc004aag.1	+	2	179	c.135G>A	c.(133-135)agG>agA	p.R45R	FRMPD1_uc004aah.1_Silent_p.R45R	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	45						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGCCCGCCAGGAACCCAACTC	0.498000														31			17		0	0	0.001882	0	0
BTNL9	153579	broad.mit.edu	37	5	180477129	180477129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:180477129G>A	uc003mmt.3	+	3	727	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	BTNL9_uc011dhi.1_Missense_Mutation_p.E97K	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Homo sapiens butyrophilin-like 9 (BTNL9), mRNA.	166						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCTTCAAGGAAGGAGGCAT	0.572000														39			5		0	0	0.000602	0	0
TRHR	7201	broad.mit.edu	37	8	110099745	110099745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:110099745G>A	uc003ymz.4	+	0	93	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	2						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			TCTAAAGATGGAAAACGAGAC	0.458000														24			4		0	0	0.000248	0	0
IFI16	3428	broad.mit.edu	37	1	158988354	158988354	+	Silent	SNP	C	T	T	rs149200088		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:158988354C>T	uc001ftg.3	+	4	1175	c.885C>T	c.(883-885)atC>atT	p.I295I	IFI16_uc010pis.2_Silent_p.I239I|IFI16_uc010pit.2_Silent_p.I295I|IFI16_uc001ftf.1_Silent_p.I295I	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	295	HIN-200 1.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATAAAATCATCAACAGAGCAA	0.353000														36			14		0	0	0.002450	0	0
PKHD1	5314	broad.mit.edu	37	6	51889856	51889856	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:51889856G>A	uc003pah.1	-	31	5028	c.4752C>T	c.(4750-4752)agC>agT	p.S1584S	PKHD1_uc003pai.3_Silent_p.S1584S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1584	IPT/TIG 11.		S -> I (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCATGTAAGCTGAAATTCT	0.438000														30			12		0	0	0.001368	0	0
HECW1	23072	broad.mit.edu	37	7	43351401	43351401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:43351401G>A	uc003tid.1	+	3	672	c.67G>A	c.(67-69)Gcg>Acg	p.A23T	HECW1_uc011kbi.1_Missense_Mutation_p.A23T|HECW1_uc003tie.1_Missense_Mutation_p.A55T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	23					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCCGCCATGGCGTCTCCTTC	0.597000														93			14		0	0	0.004007	0	0
DSCAM	1826	broad.mit.edu	37	21	42080554	42080554	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr21:42080554C>T	uc002yyq.1	-	1	639	c.187G>A	c.(187-189)Ggc>Agc	p.G63S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	63	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.T62M(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATCTCCTCGCCCGTGGCTAGG	0.587000														55			15		0	0	0.004990	0	0
RAG2	5897	broad.mit.edu	37	11	36614379	36614379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:36614379G>A	uc021qge.1	-	0	1340	c.1340C>T	c.(1339-1341)tCt>tTt	p.S447F	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.S447F|RAG2_uc021qgd.1_Missense_Mutation_p.S447F|RAG2_uc001mwv.4_Missense_Mutation_p.S447F|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	447					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATCCCCATGAGAGCAGTAGAT	0.493000									Familial Hemophagocytic Lymphohistiocytosis					30			7		0	0	0.004482	0	0
abParts	0	broad.mit.edu	37	14	106967191	106967191	+	RNA	SNP	A	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:106967191A>T	uc021ser.1	-	263		c.10309T>A								Parts of antibodies, mostly variable regions.																		ACTAGGGTTGATTATTCCCAT	0.547000														45			12		0	0	0.001368	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140183169	140183169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:140183169C>T	uc003lhf.2	+	0	2387	c.2387C>T	c.(2386-2388)tCa>tTa	p.S796L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S796L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	771					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)			GTTGATCTCTCAGCCAAAGTG	0.413000														26			7		0	0	0.001984	0	0
ZNF684	127396	broad.mit.edu	37	1	41012390	41012390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:41012390C>T	uc001cft.2	+	4	646	c.395C>T	c.(394-396)tCa>tTa	p.S132L		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AGAAAAAAATCATATAAATCG	0.313000														31			11		0	0	0.001368	0	0
NBEAL1	65065	broad.mit.edu	37	2	204030954	204030954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:204030954C>T	uc002uzt.3	+	35	6043	c.5710C>T	c.(5710-5712)Cct>Tct	p.P1904S	NBEAL1_uc021vvj.1_Missense_Mutation_p.P607S	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1904							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGATGTAATTCCTGGCAGATT	0.333000														222			105		0	0	0.003610	0	0
LAMC1	3915	broad.mit.edu	37	1	183087213	183087213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:183087213C>T	uc001gpy.4	+	10	2179	c.1922C>T	c.(1921-1923)cCt>cTt	p.P641L		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	641	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P641L(2)|p.P641P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTCTTACCCCTTTTGAATTT	0.423000														86			33		0	0	0.002445	0	0
CSMD1	64478	broad.mit.edu	37	8	3141843	3141843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:3141843C>T	uc022aqr.1	-	25	4366	c.3976G>A	c.(3976-3978)Gag>Aag	p.E1326K	CSMD1_uc011kwj.2_Missense_Mutation_p.E719K|CSMD1_uc003wqe.3_Missense_Mutation_p.E483K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1327	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGCCATCTCCGTGTCGAAA	0.557000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		14			5		0	0	0.001984	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407689	1407689	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:1407689C>T	uc010nct.2	+	6	703	c.381C>T	c.(379-381)ttC>ttT	p.F127F	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.F127F|CSF2RA_uc004cpq.2_Silent_p.F127F|CSF2RA_uc004cpn.2_Silent_p.F127F|CSF2RA_uc004cpo.2_Silent_p.F127F|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.F127F|CSF2RA_uc010ncv.2_Silent_p.F127F|CSF2RA_uc004cpr.2_Silent_p.F127F	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	127						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TCTCCTGTTTCATCTACAATG	0.463000														158			13		0	0	0.003163	0	0
ZNF43	7594	broad.mit.edu	37	19	21992551	21992551	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:21992551G>T	uc002nqj.3	-	3	418	c.288C>A	c.(286-288)ttC>ttA	p.F96L	ZNF43_uc002nql.3_Missense_Mutation_p.F90L|ZNF43_uc002nqm.3_Missense_Mutation_p.F90L|ZNF43_uc010ecv.3_Missense_Mutation_p.F90L|ZNF43_uc002nqk.3_Missense_Mutation_p.F26L	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TCGCTTTTTGGAAAGGATCTT	0.328000														71			8		7.48243e-07	3.78949e-06	0.000443	1	0
ZIM3	114026	broad.mit.edu	37	19	57646552	57646552	+	Missense_Mutation	SNP	G	A	A	rs150510557		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:57646552G>A	uc002qnz.1	-	4	1539	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H385Y(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCCAGTATGGATTTTTTTA	0.393000														94			16		0	0	0.003163	0	0
NBPF3	84224	broad.mit.edu	37	1	21799391	21799391	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:21799391G>A	uc001ber.3	+	5	1067	c.717G>A	c.(715-717)caG>caA	p.Q239Q	NBPF3_uc001bes.3_Silent_p.Q183Q|NBPF3_uc009vqb.3_Silent_p.Q239Q|NBPF3_uc010odm.2_Silent_p.Q169Q	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	239	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGAAAGTACAGGAATTATATG	0.413000														30			7		0	0	0.003080	0	0
OR10S1	219873	broad.mit.edu	37	11	123847810	123847811	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:123847810_123847811GG>AA	uc001pzm.1	-	0	588_589	c.588_589CC>TT	c.(586-591)ccccct>ccTTct	p.P197S		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TTTAGGACAGGGGGTATGTCGC	0.564000														26			4		0	0	0.004672	0	0
TLR3	7098	broad.mit.edu	37	4	187004921	187004921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:187004921C>T	uc003iyq.3	+	3	2182	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L	TLR3_uc011ckz.2_Missense_Mutation_p.S417L|TLR3_uc003iyr.3_Missense_Mutation_p.S417L	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	694	LRRCT.				I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTTGATACATCATCTTGCAAA	0.423000														124			25		0	0	0.001061	0	0
PRAME	23532	broad.mit.edu	37	22	22892369	22892369	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:22892369C>T	uc002zwf.3	-	3	888	c.732G>A	c.(730-732)tgG>tgA	p.W244*	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Nonsense_Mutation_p.W228*|PRAME_uc010gtr.3_Nonsense_Mutation_p.W244*|PRAME_uc002zwg.3_Nonsense_Mutation_p.W244*|PRAME_uc002zwh.3_Nonsense_Mutation_p.W244*|PRAME_uc002zwi.3_Nonsense_Mutation_p.W244*|PRAME_uc002zwj.3_Nonsense_Mutation_p.W244*|PRAME_uc002zwk.3_Nonsense_Mutation_p.W244*	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	244					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.W244*(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TGGGTAGCTTCCAGGTACAAG	0.458000														37			6		0	0	0.001168	0	0
GRM3	2913	broad.mit.edu	37	7	86416341	86416341	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:86416341C>T	uc003uid.3	+	2	2332	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	GRM3_uc010lef.3_Silent_p.L409L|GRM3_uc010leg.3_Silent_p.L283L|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	411					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AGCGCACCCTCTGTCCCAACA	0.488000														96			35		0	0	0.004878	0	0
LPIN1	23175	broad.mit.edu	37	2	11905715	11905715	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:11905715G>A	uc010yjm.2	+	2	248	c.195G>A	c.(193-195)aaG>aaA	p.K65K	LPIN1_uc010yjn.2_Silent_p.K16K|LPIN1_uc002rbt.3_Silent_p.K16K|LPIN1_uc002rbs.3_Silent_p.K16K|LPIN1_uc010exi.1_Non-coding_Transcript	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	16	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCACCGTGAAGGAGCTCTACA	0.507000														36			20		0	0	0.002780	0	0
ACSL5	51703	broad.mit.edu	37	10	114169274	114169274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr10:114169274C>T	uc001kzu.3	+	6	822	c.710C>T	c.(709-711)gCc>gTc	p.A237V	ACSL5_uc001kzs.3_Missense_Mutation_p.A181V|ACSL5_uc001kzt.3_Missense_Mutation_p.A181V|ACSL5_uc009xxz.3_Missense_Mutation_p.A181V|ACSL5_uc010qrj.2_5'UTR	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	181					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		GCTGATATCGCCATGGTGATC	0.473000														72			13		0	0	0.003163	0	0
TNS4	84951	broad.mit.edu	37	17	38638427	38638427	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:38638427G>A	uc010cxb.3	-	7	1790	c.1626C>T	c.(1624-1626)tcC>tcT	p.S542S	TNS4_uc002huu.4_5'Flank	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	542	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGGCCATGATGGAATGCTGGC	0.597000														25			10		0	0	0.001855	0	0
MCM3AP	8888	broad.mit.edu	37	21	47700421	47700421	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr21:47700421C>T	uc002zir.1	-	2	1548	c.1512G>A	c.(1510-1512)agG>agA	p.R504R		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	504					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTATTTTCTTCCTGTGCCAAA	0.368000														53			11		0	0	0.000978	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918076	51918076	+	Splice_Site	SNP	A	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:51918076A>G	uc002pwo.3	-	8	1837	c.1615_splice	c.e8+1	p.D539_splice	SIGLEC10_uc002pwp.3_Splice_Site_p.D481_splice|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	539					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CGGCCCCCTAACCTGGCAGCT	0.637000														55			15		0	0	0.006122	0	0
RASA2	5922	broad.mit.edu	37	3	141272772	141272772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:141272772G>A	uc010huq.1	+	5	601	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	RASA2_uc003etz.1_Missense_Mutation_p.G201S|RASA2_uc003eua.1_Missense_Mutation_p.G201S|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	201	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTCTCTAGTGGGCCCTTCTAG	0.323000														90			9		0	0	0.000443	0	0
FAM186B	84070	broad.mit.edu	37	12	49982310	49982310	+	Missense_Mutation	SNP	G	A	A	rs149783745	by1000genomes	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:49982310G>A	uc001ruo.3	-	5	2634	c.2461C>T	c.(2461-2463)Cgc>Tgc	p.R821C	FAM186B_uc010smk.2_Missense_Mutation_p.R731C	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	821						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCACTGGGGCGGATGTGCCGG	0.617000														69			11		0	0	0.000978	0	0
CCDC67	159989	broad.mit.edu	37	11	93097393	93097393	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:93097393G>A	uc001pdq.3	+	4	465	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	CCDC67_uc001pdo.1_Missense_Mutation_p.R122Q|CCDC67_uc001pdp.3_Missense_Mutation_p.R122Q	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	122										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAAGTTCCACGAAAAGAATTA	0.294000														36			6		0	0	0.001168	0	0
CRNN	49860	broad.mit.edu	37	1	152382619	152382619	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:152382619G>A	uc001ezx.2	-	2	1013	c.939C>T	c.(937-939)acC>acT	p.T313T		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	313	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGTGCTGGTGCTTCCTG	0.607000														155			10		0	0	0.000673	0	0
ATP13A2	23400	broad.mit.edu	37	1	17322554	17322554	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:17322554G>A	uc001baa.2	-	14	1649	c.1459C>T	c.(1459-1461)Cga>Tga	p.R487*	ATP13A2_uc001bac.2_Nonsense_Mutation_p.R482*|ATP13A2_uc001bab.2_Nonsense_Mutation_p.R482*|ATP13A2_uc009vpa.1_Nonsense_Mutation_p.R163*|ATP13A2_uc001bad.1_Nonsense_Mutation_p.R200*	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	487					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(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CTCCGCAGTCGGCTCTGGGCG	0.622000														46			6		0	0	0.001984	0	0
CD163	9332	broad.mit.edu	37	12	7649678	7649678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:7649678C>T	uc001qsz.3	-	4	958	c.830G>A	c.(829-831)gGa>gAa	p.G277E	CD163_uc001qta.3_Missense_Mutation_p.G277E|CD163_uc009zfw.2_Missense_Mutation_p.G277E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	277	SRCR 3.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCTAATCTTCCTGAACATTC	0.488000														62			9		0	0	0.000673	0	0
LRIG3	121227	broad.mit.edu	37	12	59307766	59307766	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:59307766G>A	uc001sqr.3	-	2	626	c.380C>T	c.(379-381)tCc>tTc	p.S127F	LRIG3_uc009zqh.3_Missense_Mutation_p.S67F|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	127						integral to membrane		p.L126I(1)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CACTTACAAGGAGAGAAGTGT	0.378000			T	ROS1	NSCLC									46			7		0	0	0.004482	0	0
PCDHB17	54661	broad.mit.edu	37	5	140536960	140536960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:140536960C>T	uc003lis.3	+	0	1381	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		CCTGTTCGTCCGCGAGAACAA	0.617000														55			5		0	0	0.000602	0	0
GPR98	84059	broad.mit.edu	37	5	89992796	89992796	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:89992796C>T	uc003kju.3	+	33	8084	c.7988C>T	c.(7987-7989)tCt>tTt	p.S2663F	GPR98_uc003kjt.3_Missense_Mutation_p.S369F|GPR98_uc003kjv.3_Missense_Mutation_p.S263F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2663	Calx-beta 18.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGGATGACTCTGAACCAGAG	0.368000														37			5		0	0	0.000602	0	0
HNF4G	3174	broad.mit.edu	37	8	76472605	76472605	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:76472605C>T	uc003yaq.3	+	9	1279	c.1009C>T	c.(1009-1011)Cat>Tat	p.H337Y	HNF4G_uc003yar.3_Missense_Mutation_p.H374Y	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	337					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CAGTCATCTCCATCATCCAAT	0.388000														15			5		0	0	0.000602	0	0
SPATA2	9825	broad.mit.edu	37	20	48522808	48522808	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:48522808G>A	uc010gie.3	-	2	1261	c.911C>T	c.(910-912)tCc>tTc	p.S304F	SPATA2_uc002xuw.3_Missense_Mutation_p.S304F|SPATA2_uc010zyn.2_Missense_Mutation_p.S167F	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	304					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GCCGTGGGGGGAGCTGGCCAT	0.642000														47			13		0	0	0.001855	0	0
CLPB	81570	broad.mit.edu	37	11	72040825	72040825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:72040825C>T	uc001osj.3	-	6	939	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CLPB_uc010rqx.2_Missense_Mutation_p.E252K|CLPB_uc010rqy.2_Missense_Mutation_p.E238K|CLPB_uc001osk.3_Missense_Mutation_p.E267K|CLPB_uc010rqz.2_Missense_Mutation_p.E96K	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	297					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGTCCCATTTCATTCCTCTGC	0.532000														172			19		0	0	0.000958	0	0
MYH2	4620	broad.mit.edu	37	17	10432922	10432922	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:10432922G>A	uc010coi.3	-	23	3204	c.3076C>T	c.(3076-3078)Ctg>Ttg	p.L1026L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.L1026L|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1026					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTTTGGTCAGGGTGTTGACT	0.458000														98			12		0	0	0.001855	0	0
CYP4F2	8529	broad.mit.edu	37	19	16000349	16000349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:16000349C>T	uc002nbs.1	-	6	852	c.802G>A	c.(802-804)Gat>Aat	p.D268N	CYP4F2_uc010xot.1_Missense_Mutation_p.D119N|CYP4F2_uc010xou.1_Missense_Mutation_p.D119N	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	268					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ATGACGGCATCTGTGAAGTCG	0.552000														60			10		0	0	0.000443	0	0
CD19	930	broad.mit.edu	37	16	28944626	28944626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:28944626C>T	uc010byo.2	+	3	693	c.631C>T	c.(631-633)Ccc>Tcc	p.P211S	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P211S	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	211	Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GTCCAGGGGCCCCCTCTCCTG	0.602000														12			5		0	0	0.001168	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506357	178506357	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:178506357C>T	uc003mju.3	+	4	1039	c.924C>T	c.(922-924)gcC>gcT	p.A308A		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		GTGGTAAAGCCTTTAGCCAGT	0.428000														81			14		0	0	0.004007	0	0
ARRDC5	645432	broad.mit.edu	37	19	4902816	4902816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:4902816C>T	uc002mbm.3	-	0	64	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	22					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		AGCACTAATTCGATCGACTTC	0.547000														34			6		0	0	0.001168	0	0
KIAA1324	57535	broad.mit.edu	37	1	109731788	109731788	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:109731788G>A	uc021orb.1	+	9	1541	c.1320G>A	c.(1318-1320)ggG>ggA	p.G440G	KIAA1324_uc009wex.2_Silent_p.G390G|KIAA1324_uc010ovg.2_Silent_p.G338G|KIAA1324_uc009wey.3_Silent_p.G353G|KIAA1324_uc001dwr.3_Silent_p.G90G	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	440					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TTCTCAGTGGGATCAACTTCG	0.522000														30			10		0	0	0.000443	0	0
GABRR3	200959	broad.mit.edu	37	3	97744447	97744447	+	RNA	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:97744447C>T	uc021xbo.1	-	2		c.319G>A			GABRR3_uc021xbp.1_Non-coding_Transcript	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						TCGTTGTCCTCTATATGGAGA	0.398000														38			10		0	0	0.000673	0	0
FBXO18	84893	broad.mit.edu	37	10	5958258	5958258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr10:5958258C>T	uc001iit.3	+	10	1884	c.1780C>T	c.(1780-1782)Ctt>Ttt	p.L594F	FBXO18_uc001iir.3_Missense_Mutation_p.L469F|FBXO18_uc001iis.3_Missense_Mutation_p.L543F|FBXO18_uc009xig.3_Missense_Mutation_p.L469F	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	543					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAACTCCGTCCTTGCTGAAGG	0.473000														48			7		0	0	0.003080	0	0
CLK3	1198	broad.mit.edu	37	15	74922068	74922068	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:74922068C>T	uc010uln.2	+	12	2222	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	CLK3_uc002ayg.4_Silent_p.S439S|CLK3_uc002ayh.4_Silent_p.S218S|CLK3_uc002ayj.4_Silent_p.S416S|CLK3_uc002ayk.4_Silent_p.S366S|CLK3_uc002ayl.4_Silent_p.S272S	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	587	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TCCAAGACTCCCTGGAGCACG	0.602000														8			5		0	0	0.003080	0	0
PIEZO2	63895	broad.mit.edu	37	18	10677820	10677820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr18:10677820G>A	uc002kos.2	-	48	7840	c.7666C>T	c.(7666-7668)Cct>Tct	p.P2556S	PIEZO2_uc002koq.3_Missense_Mutation_p.P348S	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2556						integral to membrane	ion channel activity										TTTTTAAGAGGAAAAGAAAGC	0.323000														33			4		0	0	0.000602	0	0
CEACAM18	729767	broad.mit.edu	37	19	51981873	51981873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:51981873C>T	uc002pwv.1	+	1	160	c.160C>T	c.(160-162)Ctc>Ttc	p.L54F		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	54						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGACCCCTCCTCCTGGAGGA	0.622000														16			5		0	0	0.001168	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171244	150171244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:150171244G>A	uc003whj.3	+	3	1157	c.827G>A	c.(826-828)gGa>gAa	p.G276E		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	276						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTTCAGACCGGATTTAGTGAG	0.502000														79			11		0	0	0.000978	0	0
MYH9	4627	broad.mit.edu	37	22	36702008	36702008	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:36702008G>A	uc003apg.3	-	16	2358	c.2127C>T	c.(2125-2127)ccC>ccT	p.P709P	MYH9_uc003aph.1_Silent_p.P573P	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	709	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCACCCTGTTGGGGAAGCCCT	0.662000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					64			10		0	0	0.000673	0	0
ZNF442	79973	broad.mit.edu	37	19	12462032	12462032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:12462032C>T	uc002mtr.1	-	5	978	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	ZNF442_uc010xmk.1_Missense_Mutation_p.E54K	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CCCATGATTTCTCCACACACA	0.398000														60			19		0	0	0.001216	0	0
GIP	2695	broad.mit.edu	37	17	47044539	47044539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:47044539C>T	uc002iol.1	-	1	154	c.56G>A	c.(55-57)gGa>gAa	p.G19E		NM_004123	NP_004114	P09681	GIP_HUMAN	Homo sapiens gastric inhibitory polypeptide (GIP), mRNA.	19					energy reserve metabolic process|signal transduction	extracellular region|soluble fraction	hormone activity			lung(2)|skin(1)|stomach(1)	4						CTCTCCTAGTCCCACTGCCAG	0.522000														58			9		0	0	0.000978	0	0
VARS2	57176	broad.mit.edu	37	6	30892296	30892296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:30892296C>T	uc011dmz.2	+	25	2803	c.2722C>T	c.(2722-2724)Ccc>Tcc	p.P908S	VARS2_uc003nsc.2_Missense_Mutation_p.P878S|VARS2_uc011dmx.2_Missense_Mutation_p.P878S|VARS2_uc011dmy.2_Missense_Mutation_p.P738S|VARS2_uc011dna.2_Missense_Mutation_p.P876S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.P316S|VARS2_uc010jsg.2_Missense_Mutation_p.P250S|VARS2_uc010jsh.2_Missense_Mutation_p.P22S	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	878					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCCCCTGCCCCCAGCATCTC	0.677000														28			11		0	0	0.001368	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736019	12736019	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:12736019G>C	uc004cuz.2	+	15	3580	c.3074G>C	c.(3073-3075)aGc>aCc	p.S1025T	FRMPD4_uc011mij.2_Missense_Mutation_p.S1017T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1025					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCCTGCACTAGCAAAAGGAAA	0.512000														49			4		0	0	0.000602	0	0
ADAM21	8747	broad.mit.edu	37	14	70925048	70925048	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:70925048G>A	uc021rvq.1	+	0	832	c.832G>A	c.(832-834)Gat>Aat	p.D278N	ADAM21_uc001xmd.3_Missense_Mutation_p.D278N	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	278	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGTCCTGAACGATTTCTCTCA	0.353000														39			6		0	0	0.001168	0	0
abParts	0	broad.mit.edu	37	22	22677061	22677061	+	RNA	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:22677061C>T	uc021wml.1	+	37		c.3686C>T			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CCCTCAGTGTCTGCGGCCCCA	0.562000														46			7		0	0	0.001984	0	0
CASC3	22794	broad.mit.edu	37	17	38325652	38325653	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:38325652_38325653CC>TT	uc010cwt.1	+	11	2336_2337	c.2041_2042CC>TT	c.(2041-2043)ccc>TTc	p.P681F	CASC3_uc002hue.3_Missense_Mutation_p.P681F	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	681	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCTCCCCACCCCGGAGGACT	0.589000														39			9		0	0	0.004672	0	0
GDPD5	81544	broad.mit.edu	37	11	75146615	75146615	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:75146615G>A	uc001owo.4	-	17	2292	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	GDPD5_uc001owp.4_Silent_p.T585T|GDPD5_uc001own.4_Silent_p.T340T|GDPD5_uc009yuc.3_Silent_p.T447T|GDPD5_uc009yud.3_Silent_p.T466T	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	585					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGCCCACAGGGGTGGCGGTGC	0.582000														30			5		0	0	0.000602	0	0
CCDC83	220047	broad.mit.edu	37	11	85627214	85627214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:85627214G>A	uc001pbg.1	+	10	1623	c.1111G>A	c.(1111-1113)Ggc>Agc	p.G371S	CCDC83_uc001pbh.1_Missense_Mutation_p.G340S|CCDC83_uc001pbj.1_Missense_Mutation_p.G240S|CCDC83_uc001pbi.1_Non-coding_Transcript	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	340										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GGAAAACTCAGGCACAGAGTT	0.368000														95			19		0	0	0.006122	0	0
ESPNP	284729	broad.mit.edu	37	1	17023143	17023143	+	Missense_Mutation	SNP	C	T	T	rs559507	by1000genomes	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:17023143C>T	uc001azn.1	-	9	1721	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		TGTGGGGCTCCGGACTGGTAA	0.692000														9			3		0	0	0.004672	0	0
ZNF676	163223	broad.mit.edu	37	19	22362861	22362861	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:22362861C>T	uc002nqs.1	-	2	1976	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R553I(2)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTATGAATTCTCTTGTGTCT	0.378000														29			4		0	0	0.000248	0	0
DNAJC25	548645	broad.mit.edu	37	9	114411966	114411966	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr9:114411966C>T	uc004bfl.3	+	2	779	c.723C>T	c.(721-723)atC>atT	p.I241I	DNAJC25_uc004bfn.3_Intron|DNAJC25_uc004bfm.3_Silent_p.I119I	NM_001015882	NP_001015882	Q9H1X3	DJC25_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA.	241					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						AACCCCAAATCTGTGATCTTC	0.343000														24			13		0	0	0.002450	0	0
ZNF85	7639	broad.mit.edu	37	19	21131852	21131852	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:21131852A>G	uc002npg.4	+	3	680	c.532A>G	c.(532-534)Aaa>Gaa	p.K178E	ZNF85_uc010ecn.3_Missense_Mutation_p.K113E|ZNF85_uc010eco.3_Missense_Mutation_p.K126E|ZNF85_uc002npi.3_Missense_Mutation_p.K119E	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CAAATGTACAAAATGTGGCAA	0.294000														53			13		0	0	0.001368	0	0
CBLC	23624	broad.mit.edu	37	19	45297477	45297477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:45297477C>T	uc002ozs.3	+	8	1364	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	CBLC_uc010ejt.3_Missense_Mutation_p.P388L	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	434					cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CTTTCGGCTCCTCCATTGCCC	0.627000			M		AML									99			18		0	0	0.001882	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103404735	103404735	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:103404735G>A	uc001ymi.1	-	34	5073	c.4841C>T	c.(4840-4842)cCc>cTc	p.P1614L		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1614					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTCCTGGGAGGGGGGCACAGC	0.637000														28			8		0	0	0.000443	0	0
MUC16	94025	broad.mit.edu	37	19	9084753	9084753	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:9084753G>A	uc002mkp.3	-	0	7266	c.7062C>T	c.(7060-7062)atC>atT	p.I2354I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2354	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D2353Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGCGTCAAGGATATCTGAGG	0.438000														22			6		0	0	0.001168	0	0
VARS	7407	broad.mit.edu	37	6	31760052	31760052	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:31760052C>T	uc003nxe.3	-	5	1236	c.813G>A	c.(811-813)gaG>gaA	p.E271E	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	271					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.R270M(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GATCCCGTTTCTCCCTCTTCT	0.562000														144			28		0	0	0.004289	0	0
OR4C12	283093	broad.mit.edu	37	11	50004008	50004008	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:50004008G>A	uc010ria.2	-	0	64	c.30C>T	c.(28-30)ttC>ttT	p.F10F		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E9K(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTATTAAAATGAATTCAGTCA	0.343000														25			6		0	0	0.001984	0	0
DSCAM	1826	broad.mit.edu	37	21	41559849	41559849	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr21:41559849C>T	uc002yyq.1	-	12	3071	c.2619G>A	c.(2617-2619)gaG>gaA	p.E873E	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	873	Ig-like C2-type 9.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.E873*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCCACGGTCCTCCCCATAAG	0.413000														35			8		0	0	0.003080	0	0
CDH18	1016	broad.mit.edu	37	5	19503173	19503173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:19503173C>T	uc003jgd.3	-	10	2092	c.1558G>A	c.(1558-1560)Gga>Aga	p.G520R	CDH18_uc011cnm.2_Missense_Mutation_p.G520R|CDH18_uc003jgc.3_Missense_Mutation_p.G520R|CDH18_uc021xwu.1_Missense_Mutation_p.G520R	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	520	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AACCTTGGTCCATTGGCAAAA	0.333000														34			5		0	0	0.001168	0	0
GABRG1	2565	broad.mit.edu	37	4	46060533	46060533	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:46060533C>T	uc003gxb.3	-	5	884	c.732G>A	c.(730-732)cgG>cgA	p.R244R		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	244					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R244R(1)|p.R244W(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CAGTTGAGTTCCGTAACCCTA	0.333000														30			9		0	0	0.000673	0	0
OR5A1	219982	broad.mit.edu	37	11	59211055	59211055	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:59211055C>T	uc001nnx.1	+	0	414	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACCCCACTATCATGACCCAGG	0.542000														127			14		0	0	0.003163	0	0
MAST1	22983	broad.mit.edu	37	19	12975902	12975902	+	Silent	SNP	C	T	T	rs149802603		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:12975902C>T	uc002mvm.3	+	13	1676	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	516	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACAGATTTCGGCCTCTCCA	0.567000														46			6		0	0	0.003080	0	0
MUC16	94025	broad.mit.edu	37	19	9047542	9047542	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:9047542C>T	uc002mkp.3	-	4	34293	c.34089G>A	c.(34087-34089)agG>agA	p.R11363R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11365	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						TAGGGGTTGTCCTGGGAACTG	0.488000														132			27		0	0	0.002096	0	0
TNS3	64759	broad.mit.edu	37	7	47333376	47333376	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:47333376G>A	uc003tnw.3	-	24	4085	c.3727C>T	c.(3727-3729)Ccg>Tcg	p.P1243S	TNS3_uc022acn.1_Missense_Mutation_p.P800S	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1243	SH2.					focal adhesion	protein binding	p.P1243Q(1)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACTCCCTTCGGGGTACACTCG	0.458000														64			19		0	0	0.001882	0	0
CYP24A1	1591	broad.mit.edu	37	20	52775632	52775632	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:52775632T>A	uc002xwv.2	-	7	1419	c.1021A>T	c.(1021-1023)Aat>Tat	p.N341Y	CYP24A1_uc002xwu.1_Missense_Mutation_p.N199Y|CYP24A1_uc002xww.2_Missense_Mutation_p.N341Y	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	341					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CGGGATAAATTGTAGAGAATC	0.368000														55			16		0	0	0.000958	0	0
OR2M5	127059	broad.mit.edu	37	1	248309207	248309207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:248309207G>A	uc010pze.2	+	0	758	c.758G>A	c.(757-759)gGa>gAa	p.G253E		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGTACTATGGAGCAGGTTTG	0.498000														78			39		0	0	0.001951	0	0
KCTD3	51133	broad.mit.edu	37	1	215777580	215777580	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:215777580G>A	uc001hks.3	+	12	1539	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q	KCTD3_uc001hkt.3_Silent_p.Q415Q|KCTD3_uc010pub.2_Silent_p.Q313Q|KCTD3_uc009xdn.3_Silent_p.Q167Q	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	415						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGCTTTTTCAGACTTTCACAG	0.448000														46			27		0	0	0.001061	0	0
UTRN	7402	broad.mit.edu	37	6	144811240	144811240	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:144811240A>G	uc003qkt.3	+	29	4260	c.4168A>G	c.(4168-4170)Acc>Gcc	p.T1390A		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1390	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCATGAGCTAACCCTAGAGGA	0.433000														60			23		0	0	0.002780	0	0
MAP4K2	5871	broad.mit.edu	37	11	64567806	64567806	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:64567806G>A	uc001obh.3	-	10	876	c.784C>T	c.(784-786)Ccg>Tcg	p.P262S	MAP4K2_uc001obi.3_Missense_Mutation_p.P262S	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	262	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						TCTGCTGTCGGCCTCTTCTTA	0.602000														51			7		0	0	0.004482	0	0
C6orf222	389384	broad.mit.edu	37	6	36291299	36291299	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:36291299G>A	uc003oly.3	-	7	1420	c.1242C>T	c.(1240-1242)gtC>gtT	p.V414V		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	414										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTTCCTGCTGGACTTGAGGTT	0.537000														64			17		0	0	0.000958	0	0
SHANK1	50944	broad.mit.edu	37	19	51165351	51165351	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:51165351G>A	uc002psx.1	-	22	6376	c.6357C>T	c.(6355-6357)ttC>ttT	p.F2119F	SHANK1_uc002psw.1_Silent_p.F1503F	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2119	SAM.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGTGGTCCAGGAACTGGGCTC	0.617000														29			9		0	0	0.000673	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919306	130919306	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:130919306G>A	uc001uil.2	-	10	2391	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	RIMBP2_uc001uim.3_Silent_p.F633F	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	725						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGCCTTTCAGGAAGTCGTCCA	0.657000														80			11		0	0	0.000978	0	0
TYRP1	7306	broad.mit.edu	37	9	12695539	12695539	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr9:12695539G>A	uc003zkv.4	+	2	588	c.410G>A	c.(409-411)aGt>aAt	p.S137N		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	137					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CTGGACTTAAGTAAAGAAGAA	0.428000									Oculocutaneous Albinism					29			5		0	0	0.003080	0	0
TMEM18	129787	broad.mit.edu	37	2	669634	669634	+	Silent	SNP	C	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:669634C>A	uc002qwl.3	-	4	463	c.369G>T	c.(367-369)ctG>ctT	p.L123L	TMEM18_uc002qwk.3_Non-coding_Transcript	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	Homo sapiens transmembrane protein 18 (TMEM18), mRNA.	123					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		GTGCATTCTTCAGGTCAGTCA	0.423000														25			12		4.3838e-07	2.22737e-06	0.001855	1	0
TIE1	7075	broad.mit.edu	37	1	43772851	43772851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:43772851G>A	uc001ciu.3	+	4	856	c.679G>A	c.(679-681)Gag>Aag	p.E227K	TIE1_uc010okd.2_Missense_Mutation_p.E227K|TIE1_uc010oke.2_Missense_Mutation_p.E182K|TIE1_uc009vwq.3_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'UTR|TIE1_uc010okc.2_Missense_Mutation_p.E227K	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	227	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGTACCAAGGAGTGCCCAGG	0.622000														34			5		0	0	0.000602	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94919500	94919500	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:94919500A>T	uc003unp.3	+	15	3464	c.3182A>T	c.(3181-3183)aAa>aTa	p.K1061I	PPP1R9A_uc010lfj.3_Missense_Mutation_p.K1337I|PPP1R9A_uc011kif.2_Missense_Mutation_p.K1259I|PPP1R9A_uc003unq.3_Missense_Mutation_p.K1216I|PPP1R9A_uc011kig.2_Missense_Mutation_p.K1053I|PPP1R9A_uc003unr.3_Missense_Mutation_p.K350I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	1061	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCCCAAGAGAAAATGGAAAAA	0.453000										HNSCC(28;0.073)				28			11		0	0	0.000673	0	0
SRCIN1	80725	broad.mit.edu	37	17	36704930	36704930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:36704930C>T	uc002hqd.3	-	16	3358	c.3133G>A	c.(3133-3135)Gag>Aag	p.E1045K	SRCIN1_uc002hqf.1_Missense_Mutation_p.E917K|SRCIN1_uc002hqe.2_Missense_Mutation_p.E899K	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	917					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						ACCTCCAGCTCCTCGGACTCA	0.667000														10			5		0	0	0.001168	0	0
TBX18	9096	broad.mit.edu	37	6	85446745	85446745	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:85446745G>A	uc003pkl.1	-	7	1482	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	494					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		ACTGGAGCTGGGGGGACATTC	0.537000														72			19		0	0	0.001523	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965299	88965299	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:88965299G>A	uc011khi.2	+	3	3541	c.3003G>A	c.(3001-3003)acG>acA	p.T1001T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1001						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAGGACTACGGAGAAAGACA	0.363000										HNSCC(36;0.09)				40			8		0	0	0.003080	0	0
CDH4	1002	broad.mit.edu	37	20	60448822	60448822	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:60448822G>A	uc002ybn.2	+	6	1004	c.916G>A	c.(916-918)Gac>Aac	p.D306N	CDH4_uc002ybr.2_Missense_Mutation_p.D269N|CDH4_uc002ybp.2_Missense_Mutation_p.D232N	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	306	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGATGCTGACGACAGCACCAC	0.622000														32			10		0	0	0.000673	0	0
F13A1	2162	broad.mit.edu	37	6	6225052	6225052	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:6225052C>T	uc003mwv.3	-	6	963	c.840G>A	c.(838-840)tgG>tgA	p.W280*	F13A1_uc011dib.2_Nonsense_Mutation_p.W217*	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	280					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGATATTGTCCCAGGATCCAA	0.498000														49			9		0	0	0.000443	0	0
MUC16	94025	broad.mit.edu	37	19	9090527	9090527	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:9090527C>T	uc002mkp.3	-	0	1492	c.1288G>A	c.(1288-1290)Gaa>Aaa	p.E430K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	430	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						AAAGTTCCTTCTGTTTCCTTT	0.498000														46			14		0	0	0.001855	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578823	44578823	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr7:44578823C>T	uc003tlb.3	-	1	1229	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	NPC1L1_uc011kbw.2_Silent_p.R391R|NPC1L1_uc003tlc.3_Silent_p.R391R|NPC1L1_uc003tld.3_Silent_p.R391R	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	391					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.R391L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTTTCTCACTCCGGGCTTGGC	0.592000														75			47		0	0	0.003610	0	0
PAK4	10298	broad.mit.edu	37	19	39665671	39665671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:39665671G>A	uc002okj.1	+	6	1660	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E	PAK4_uc002okl.1_Missense_Mutation_p.G400E|PAK4_uc002okn.1_Missense_Mutation_p.G400E|PAK4_uc002okm.1_Missense_Mutation_p.G247E|PAK4_uc002oko.1_Missense_Mutation_p.G247E|PAK4_uc002okp.1_Missense_Mutation_p.G310E	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	400	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			TTCCTGGAAGGAGGCGCCCTC	0.597000														73			5		0	0	0.001168	0	0
MECOM	2122	broad.mit.edu	37	3	169099072	169099072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr3:169099072C>T	uc011bpj.1	-	1	681	c.278G>A	c.(277-279)gGa>gAa	p.G93E	MECOM_uc003ffl.2_Missense_Mutation_p.G65E|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G93E|MECOM_uc011bpl.1_Missense_Mutation_p.G93E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	93							sequence-specific DNA binding transcription factor activity	p.K92E(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGTCCATATTCCTAGTCCTGC	0.483000														74			19		0	0	0.000958	0	0
GAA	2548	broad.mit.edu	37	17	78084624	78084624	+	Silent	SNP	C	T	T	rs143491365		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:78084624C>T	uc002jxp.3	+	9	1903	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	GAA_uc002jxo.3_Silent_p.F512F|GAA_uc002jxq.3_Silent_p.F512F	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	512					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	AGGTGCCCTTCGACGGCATGT	0.632000														18			4		0	0	0.000602	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307711	46307711	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:46307711C>G	uc002pdm.3	-	2	1623	c.1452G>C	c.(1450-1452)caG>caC	p.Q484H	RSPH6A_uc002pdl.3_Missense_Mutation_p.Q220H	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	484						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TGCGGGCTATCTGGGCCCGCA	0.642000														27			9		0	0	0.004482	0	0
ELMO3	79767	broad.mit.edu	37	16	67236598	67236598	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:67236598C>T	uc002esa.3	+	14	1669	c.1626C>T	c.(1624-1626)ttC>ttT	p.F542F	ELMO3_uc002esb.3_Silent_p.F525F|ELMO3_uc002esc.3_Silent_p.F376F|MIR328_uc010vjf.1_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	489	PH.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TGGAGCTCTTCCGAACCAAGG	0.647000														28			5		0	0	0.001984	0	0
SYT16	83851	broad.mit.edu	37	14	62462927	62462927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:62462927G>A	uc001xfu.1	+	0	387	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	SYT16_uc010tsd.1_Missense_Mutation_p.E64K	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	64										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TCAGATTCAGGAAACGTACTT	0.358000														87			9		0	0	0.004482	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202531961	202531961	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:202531961T>G	uc001gya.2	+	19	2713	c.2563T>G	c.(2563-2565)Tca>Gca	p.S855A	PPP1R12B_uc001gyb.1_Missense_Mutation_p.S81A|PPP1R12B_uc001gyc.1_Missense_Mutation_p.S81A|PPP1R12B_uc021pho.1_Missense_Mutation_p.S59A	NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	855					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TGACCGGGCTTCAGCAAGAGC	0.483000														87			4		0	0	0.001984	0	0
SAAL1	113174	broad.mit.edu	37	11	18101970	18101970	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:18101970G>A	uc001mnq.3	-	11	1451	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	SAAL1_uc001mnr.3_Silent_p.F466F	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN	Homo sapiens serum amyloid A-like 1 (SAAL1), mRNA.	467					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						TCAAACTTGGGAAGTTTTTTT	0.328000														47			7		0	0	0.004482	0	0
CYP2C19	1557	broad.mit.edu	37	10	96612560	96612560	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr10:96612560G>A	uc010qnz.2	+	8	1362	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	CYP2C19_uc010qny.2_Silent_p.Q432Q	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	454					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TCATTTTACAGAACTTTAACC	0.448000														54			13		0	0	0.002450	0	0
DOPEY2	9980	broad.mit.edu	37	21	37650525	37650525	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr21:37650525C>G	uc002yvg.3	+	29	5920	c.5841C>G	c.(5839-5841)agC>agG	p.S1947R	DOPEY2_uc011aeb.2_Missense_Mutation_p.S1896R	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1947					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ATGCTCCCAGCTTCCGGGCTG	0.537000														32			9		0	0	0.000443	0	0
HERC6	55008	broad.mit.edu	37	4	89304453	89304453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:89304453G>A	uc011cdi.2	+	1	463	c.280G>A	c.(280-282)Gga>Aga	p.G94R	HERC6_uc003hrp.1_Non-coding_Transcript|HERC6_uc011cdj.2_Missense_Mutation_p.G94R|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	94					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GTGCCACAAAGGAAGGGTCTT	0.483000														4			4		0	0	0.000248	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784277	140784278	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:140784277_140784278CC>TT	uc003lkh.2	+	0	1758_1759	c.1758_1759CC>TT	c.(1756-1761)tacctg>taTTtg	p.586_587YL>YL	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.586_587YL>YL	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	587	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCTGGCTACCTGGTGACCAA	0.599000														60			7		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179589042	179589042	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:179589042G>A	uc021vsy.1	-	68	17553	c.17328C>T	c.(17326-17328)ttC>ttT	p.F5776F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.F2437F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6703	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAACCTGGAAAGTGTATG	0.398000														27			17		0	0	0.001523	0	0
ABCC6P2	730013	broad.mit.edu	37	16	14916840	14916840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:14916840G>A	uc002dcu.2	-	1	155	c.122C>T	c.(121-123)cCc>cTc	p.P41L						Homo sapiens ATP-binding cassette, sub-family C, member 6 pseudogene 2 (ABCC6P2), non-coding RNA.																		GAGGTACATGGGGGGCACCCA	0.592000														45			11		0	0	0.000673	0	0
PRDM16	63976	broad.mit.edu	37	1	3348622	3348622	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:3348622C>T	uc001akf.3	+	15	3696	c.3614C>T	c.(3613-3615)gCa>gTa	p.A1205V	PRDM16_uc001ake.3_Missense_Mutation_p.A1205V|PRDM16_uc009vlh.3_Missense_Mutation_p.A905V|PRDM16_uc001akc.3_Missense_Mutation_p.A1204V	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1205	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GCTGAGGAAGCATTTGAAGTT	0.527000			T	EVI1	"""MDS, AML"""									35			10		0	0	0.000443	0	0
NEFL	4747	broad.mit.edu	37	8	24811049	24811049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:24811049C>T	uc003xee.3	-	3	1531	c.1429G>A	c.(1429-1431)Gag>Aag	p.E477K		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	477	Tail, subdomain B (acidic).|Tail.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tcctcctcctcGGCTTCTCCT	0.532000														4			3		0	0	0.004672	0	0
CILP	8483	broad.mit.edu	37	15	65490910	65490910	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr15:65490910G>A	uc002aon.2	-	8	1895	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	572					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TTTTTCCGACGAAGCATCTTG	0.507000														32			7		0	0	0.003080	0	0
BRMS1	25855	broad.mit.edu	37	11	66109080	66109081	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:66109080_66109081CC>TT	uc001oho.1	-	2	300_301	c.153_154GG>AA	c.(151-156)gaggac>gaAAac	p.D52N	BRMS1_uc001ohp.1_Missense_Mutation_p.D52N|BRMS1_uc009yre.3_5'Flank	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA.	52					apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CGCTCATAGTCCTCATCATCCA	0.574000														79			9		0	0	0.004672	0	0
CCDC30	728621	broad.mit.edu	37	1	43055041	43055042	+	Missense_Mutation	DNP	TT	CC	CC			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:43055041_43055042TT>CC	uc009vwk.1	+	8	1380_1381	c.1270_1271TT>CC	c.(1270-1272)tta>CCa	p.L424P	CCDC30_uc001chm.2_Missense_Mutation_p.L122P|CCDC30_uc001chn.2_Missense_Mutation_p.L213P|CCDC30_uc001chp.3_Missense_Mutation_p.L238P	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	424								p.T423A(1)|p.T423I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AGTGAGAACCTTACAAGATAAA	0.356000														36			7		0	0	0.004672	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340392	29340392	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr18:29340392C>T	uc002kxa.2	-	0	452	c.233G>A	c.(232-234)cGa>cAa	p.R78Q		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	78					transport	integral to membrane|mitochondrial inner membrane											ATACAAATTTCGAAATCCATC	0.463000														44			7		0	0	0.001984	0	0
RG9MTD3	158234	broad.mit.edu	37	9	37777689	37777689	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr9:37777689G>A	uc004aai.3	+	8	1013	c.936G>A	c.(934-936)cgG>cgA	p.R312R	RG9MTD3_uc011lqo.2_Silent_p.R252R|RG9MTD3_uc011lqp.2_Silent_p.R225R|RG9MTD3_uc011lqq.2_Silent_p.R192R|RG9MTD3_uc004aaj.3_Non-coding_Transcript|RG9MTD3_uc004aak.3_Silent_p.R217R	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 3 (RG9MTD3), mRNA.	312							methyltransferase activity			endometrium(1)|large_intestine(2)|lung(1)	4				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		ATATTCTTCGGAACTCAGTGG	0.483000														34			6		0	0	0.001984	0	0
SRBD1	55133	broad.mit.edu	37	2	45789855	45789855	+	Missense_Mutation	SNP	G	C	C	rs150753231		TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:45789855G>C	uc002rus.3	-	9	1422	c.1346C>G	c.(1345-1347)aCg>aGg	p.T449R	SRBD1_uc010yoc.2_5'UTR	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	449					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GACCTTAACCGTCAGTACCTT	0.363000														39			4		0	0	0.000248	0	0
EPHA10	284656	broad.mit.edu	37	1	38227564	38227564	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:38227564G>A	uc009vvi.3	-	2	449	c.363C>T	c.(361-363)acC>acT	p.T121T	EPHA10_uc001cbw.4_Silent_p.T121T	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	121						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTCCTTGCAGGTACCCGCGG	0.652000														57			9		0	0	0.000443	0	0
GAB3	139716	broad.mit.edu	37	X	153925439	153925439	+	Silent	SNP	A	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:153925439A>G	uc004fmk.1	-	6	1443	c.1395T>C	c.(1393-1395)caT>caC	p.H465H	GAB3_uc004fmj.1_Silent_p.H464H|GAB3_uc010nve.1_Silent_p.H465H|GAB3_uc004fml.1_Silent_p.H84H	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	464										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAAGAGATGCATGTTCCCGGA	0.532000														25			18		0	0	0.001216	0	0
PCYT2	5833	broad.mit.edu	37	17	79867395	79867395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:79867395G>A	uc002kcf.2	-	1	282	c.173C>T	c.(172-174)aCc>aTc	p.T58I	PCYT2_uc010wvb.2_Missense_Mutation_p.T26I|PCYT2_uc002kce.2_5'UTR|PCYT2_uc002kch.2_Missense_Mutation_p.T58I|PCYT2_uc002kci.2_5'UTR|PCYT2_uc010wvc.2_5'UTR	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	58	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTACCATCGGTGTGCACGCC	0.637000														53			10		0	0	0.000443	0	0
CACNB3	784	broad.mit.edu	37	12	49219238	49219239	+	Missense_Mutation	DNP	GC	AA	AA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:49219238_49219239GC>AA	uc001rsl.2	+	7	1054_1055	c.595_596GC>AA	c.(595-597)gct>AAt	p.A199N	CACNB3_uc010sly.2_Missense_Mutation_p.A186N|CACNB3_uc010slz.2_Missense_Mutation_p.A198N|CACNB3_uc001rsk.2_Missense_Mutation_p.A46N|CACNB3_uc021qxm.1_Missense_Mutation_p.A158N	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	199					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GATGCAGAAGGCTCTCTTCGAC	0.564000														42			10		0	0	0.004672	0	0
HSF1	3297	broad.mit.edu	37	8	145533467	145533467	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:145533467C>T	uc003zbt.4	+	3	543	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	125						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGTGTCCACCCTGAAGAGTGA	0.597000														55			9		0	0	0.004482	0	0
LRP1B	53353	broad.mit.edu	37	2	141473615	141473615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:141473615C>T	uc002tvj.1	-	36	6922	c.5950G>A	c.(5950-5952)Ggt>Agt	p.G1984S		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1984					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CGGAAAGAACCATTGAGTCTT	0.343000										TSP Lung(27;0.18)				93			10		0	0	0.000673	0	0
E2F2	1870	broad.mit.edu	37	1	23850914	23850915	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:23850914_23850915CC>TA	uc001bhe.2	-	1	745_746	c.318_319GG>TA	c.(316-321)aagggg>aaTAgg	p.106_107KG>NR	AX748204_uc001bhf.1_5'Flank	NM_004091	NP_004082	Q14209	E2F2_HUMAN	Homo sapiens E2F transcription factor 2 (E2F2), mRNA.	106					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		ATGCACTTCCCCTTGGGGGTTG	0.624000														15			8		0	0	0.004672	0	0
CCNB3	85417	broad.mit.edu	37	X	50085299	50085299	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:50085299C>T	uc004dox.4	+	8	3913	c.3615C>T	c.(3613-3615)ctC>ctT	p.L1205L	CCNB3_uc004doy.3_Silent_p.L1205L|CCNB3_uc004doz.3_Silent_p.L101L|CCNB3_uc010njq.3_Silent_p.L97L|CCNB3_uc004dpa.3_Silent_p.L44L	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1205					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGTTACAACTCCTTGGTGCCA	0.463000														22			8		0	0	0.003080	0	0
CLEC4D	338339	broad.mit.edu	37	12	8673736	8673736	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr12:8673736G>A	uc001qun.3	+	5	710	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	173	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GCATAAGAATGAACCCGACAA	0.333000														52			6		0	0	0.001984	0	0
MDC1	9656	broad.mit.edu	37	6	30680344	30680344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:30680344C>T	uc003nrg.4	-	4	1815	c.1375G>A	c.(1375-1377)Gag>Aag	p.E459K	MDC1_uc003nrf.4_Missense_Mutation_p.E113K|MDC1_uc011dmp.1_Missense_Mutation_p.E331K|MDC1_uc003nrh.1_Missense_Mutation_p.E331K|MDC1_uc003nri.2_Missense_Mutation_p.E459K	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	459	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGCTCTTCCTCCTCCACGTCT	0.493000								Other conserved DNA damage response genes						44			16		0	0	0.004990	0	0
PCSK9	255738	broad.mit.edu	37	1	55525220	55525220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:55525220C>T	uc001cyf.2	+	9	1927	c.1565C>T	c.(1564-1566)gCc>gTc	p.A522V	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	522			A -> T.		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGTGTCTACGCCATTGCCAGG	0.607000														94			25		0	0	0.005443	0	0
ADAM2	2515	broad.mit.edu	37	8	39624517	39624517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:39624517C>T	uc003xnj.3	-	13	1432	c.1357G>A	c.(1357-1359)Gac>Aac	p.D453N	ADAM2_uc003xnk.3_Missense_Mutation_p.D434N|ADAM2_uc011lck.2_Missense_Mutation_p.D453N|ADAM2_uc003xnl.3_Missense_Mutation_p.D327N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	453	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCAGGGAGGTCGCATTCTTCA	0.398000														76			6		0	0	0.001984	0	0
KRT20	54474	broad.mit.edu	37	17	39041341	39041341	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:39041341G>T	uc002hvl.3	-	0	155	c.97C>A	c.(97-99)Ccc>Acc	p.P33T		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	33	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TAAACGCTGGGTGTCGTCCCG	0.607000														25			6		1.06961e-07	5.45225e-07	0.003080	1	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642682	1642682	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:1642682G>A	uc009ycy.1	-	2	624	c.537C>T	c.(535-537)tcC>tcT	p.S179S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	274	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACTAGACTGGGAGCAGCAGG	0.572000														56			7		0	0	0.000443	0	0
PSG2	5670	broad.mit.edu	37	19	43585056	43585056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr19:43585056C>T	uc002ovr.3	-	1	579	c.407G>A	c.(406-408)gGa>gAa	p.G136E	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	136	Ig-like V-type.				cell migration|female pregnancy	extracellular region		p.G136*(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTGAAATATCCAGTTACTCC	0.502000														96			14		0	0	0.005443	0	0
ABCC8	6833	broad.mit.edu	37	11	17427101	17427101	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr11:17427101C>T	uc001mnc.3	-	26	3465	c.3339G>A	c.(3337-3339)gaG>gaA	p.E1113E		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1113	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GGGGCGTGGTCTCAAAAAACC	0.448000														141			26		0	0	0.004656	0	0
KIF1B	23095	broad.mit.edu	37	1	10332333	10332333	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:10332333T>G	uc001aqx.4	+	8	1035	c.833T>G	c.(832-834)tTg>tGg	p.L278W	KIF1B_uc001aqv.4_Missense_Mutation_p.L278W|KIF1B_uc001aqw.4_Missense_Mutation_p.L278W|KIF1B_uc001aqy.3_Missense_Mutation_p.L278W|KIF1B_uc001aqz.3_Missense_Mutation_p.L278W|KIF1B_uc001ara.3_Missense_Mutation_p.L278W|KIF1B_uc001arb.3_Missense_Mutation_p.L278W|KIF1B_uc009vmt.3_Non-coding_Transcript	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	278	Interaction with KBP.|Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CTTACAACTTTGGGCAAAGTC	0.318000														71			5		0	0	0.000602	0	0
BFAR	51283	broad.mit.edu	37	16	14761504	14761504	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr16:14761504G>A	uc002dco.3	+	7	1454	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	BFAR_uc010uzh.2_Silent_p.Q263Q	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	391					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CCGTGCCTCAGAGGATGTGGA	0.537000														75			11		0	0	0.001855	0	0
CCDC88A	55704	broad.mit.edu	37	2	55555445	55555445	+	Silent	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:55555445G>A	uc002ryv.2	-	16	3821	c.2979C>T	c.(2977-2979)cgC>cgT	p.R993R	CCDC88A_uc010ypa.1_Silent_p.R993R|CCDC88A_uc010yoz.1_Silent_p.R994R|CCDC88A_uc002ryu.2_Silent_p.R276R|CCDC88A_uc002rys.3_5'UTR|CCDC88A_uc002ryw.3_Silent_p.R277R|CCDC88A_uc010fby.1_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	994					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAAGTTCTTGGCGCAATTGCT	0.274000														10			4		0	0	0.001168	0	0
PNMA1	9240	broad.mit.edu	37	14	74179807	74179807	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr14:74179807G>A	uc001xor.1	-	0	1322	c.536C>T	c.(535-537)cCc>cTc	p.P179L		NM_006029	NP_006020	Q8ND90	PNMA1_HUMAN	Homo sapiens paraneoplastic antigen MA1 (PNMA1), mRNA.	179					apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis	cytoplasm|focal adhesion|nucleolus	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		ctccagccagggatcaaaggt	0.537000														34			4		0	0	0.000248	0	0
LOC284009	284009	broad.mit.edu	37	17	2310519	2310519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr17:2310519G>A	uc002fus.3	-	2	332	c.253C>T	c.(253-255)Cct>Tct	p.P85S						Homo sapiens uncharacterized LOC284009 (LOC284009), non-coding RNA.																		ACGATGTCAGGGATTCCTTTA	0.527000														9			3		0	0	0.000248	0	0
SLC4A4	8671	broad.mit.edu	37	4	72425842	72425842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr4:72425842G>A	uc010iic.3	+	22	3087	c.2970G>A	c.(2968-2970)atG>atA	p.M990I	SLC4A4_uc003hfy.3_Missense_Mutation_p.M990I|SLC4A4_uc010iib.3_Missense_Mutation_p.M906I|SLC4A4_uc003hfz.3_Missense_Mutation_p.M990I|SLC4A4_uc003hgc.4_Missense_Mutation_p.M946I|SLC4A4_uc010iid.3_Missense_Mutation_p.M194I	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	990						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.S990P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAAAAGGCATGGACTACCTCT	0.403000														75			8		0	0	0.000978	0	0
BPIFB6	128859	broad.mit.edu	37	20	31629805	31629805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr20:31629805C>T	uc010zuc.2	+	11	1172	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	BPIFB6_uc010zud.2_Missense_Mutation_p.S330L	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	391						extracellular region	lipid binding	p.S391*(1)									AAGTCCTCATCGATTGGCAAC	0.602000														18			4		0	0	0.000602	0	0
HIC2	23119	broad.mit.edu	37	22	21799328	21799328	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr22:21799328C>T	uc002zur.4	+	2	374	c.144C>T	c.(142-144)gtC>gtT	p.V48V	HIC2_uc002zus.4_Silent_p.V48V	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	48	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TGTGTGACGTCATCATCATGG	0.602000														41			10		0	0	0.000673	0	0
TTN	7273	broad.mit.edu	37	2	179397387	179397387	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr2:179397387C>T	uc021vsy.1	-	306	96476	c.96251G>A	c.(96250-96252)aGa>aAa	p.R32084K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R25779K|TTN_uc021vta.1_Missense_Mutation_p.R25712K|TTN_uc021vtb.1_Missense_Mutation_p.R25587K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33011	Fibronectin type-III 132.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAGAACGTCTTCTAGGTCG	0.463000														25			24		0	0	0.002780	0	0
MAGEA4	4103	broad.mit.edu	37	X	151092512	151092512	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:151092512C>T	uc022cgv.1	+	0	376	c.376C>T	c.(376-378)Cga>Tga	p.R126*	MAGEA4_uc004fez.3_Nonsense_Mutation_p.R126*|MAGEA4_uc004ffa.3_Nonsense_Mutation_p.R126*|MAGEA4_uc004ffb.3_Nonsense_Mutation_p.R126*|MAGEA4_uc022cgu.1_Nonsense_Mutation_p.R154*|MAGEA4_uc004ffc.3_Nonsense_Mutation_p.R126*|MAGEA4_uc004ffd.3_Nonsense_Mutation_p.R126*	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	126	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCGCAAGTATCGAGCCAAGGA	0.527000														25			11		0	0	0.000978	0	0
ITPR3	3710	broad.mit.edu	37	6	33631628	33631628	+	Silent	SNP	C	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr6:33631628C>T	uc021ywr.1	+	10	1343	c.1119C>T	c.(1117-1119)acC>acT	p.T373T		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	373					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACCCCACCACCTTGCAGAAAA	0.602000														30			6		0	0	0.001984	0	0
LOC729862	729862	broad.mit.edu	37	5	28927282	28927282	+	RNA	SNP	G	T	T			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr5:28927282G>T	uc003jgz.1	+	0		c.306G>T								Homo sapiens striatin, calmodulin binding protein pseudogene (LOC729862), non-coding RNA.																		AATTGAATCAGGGAGCTATGA	0.408000														18			6		0.00116845	0.00587968	0.001168	1	0
CLCC1	23155	broad.mit.edu	37	1	109477407	109477407	+	Frame_Shift_Del	DEL	T	-	-	rs150759040	by1000genomes	TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr1:109477407delT	uc021ora.1	-	9	1552	c.1541delA	c.(1540-1542)aagfs	p.K514fs	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Frame_Shift_Del_p.K464fs|CLCC1_uc001dwf.1_Frame_Shift_Del_p.K514fs|CLCC1_uc009wes.1_Frame_Shift_Del_p.K393fs|CLCC1_uc009wet.1_Frame_Shift_Del_p.K329fs	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	514						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597													---	385	---	---	7	---					
EPPK1	83481	broad.mit.edu	37	8	144943831	144943831	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chr8:144943831delG	uc003zaa.1	-	0	3604	c.3591delC	c.(3589-3591)cccfs	p.P1197fs		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1197						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGTGGGCCGGGCACCATGA	0.682													---	4	---	---	2	---					
ATRX	546	broad.mit.edu	37	X	76874353	76874354	+	Frame_Shift_Ins	INS	-	CACA	CACA			TCGA-EE-A2GE-06A-11D-A196-08	TCGA-EE-A2GE-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c7b2727-77fe-4ff3-94fd-dae0e7892f5d	40c69184-17d3-4e93-a706-f8e2cc4c6e45	g.chrX:76874353_76874354insCACA	uc004ecp.4	-	20	5600_5601	c.5368_5369insTGTG	c.(5368-5370)gcafs	p.A1790fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.A1752fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.A1575fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1790					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGTAGAATCTGCACACTGACCA	0.342			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						---	53	---	---	18	---					
