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
NEIL2	252969	broad.mit.edu	37	8	11629028	11629028	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:11629028G>A	uc003wug.2	+	1	747	c.72G>A	c.(70-72)aaG>aaA	p.K24K	NEIL2_uc003wue.2_Silent_p.K24K|NEIL2_uc003wuf.2_Intron|NEIL2_uc011kxd.1_Silent_p.K24K	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	24					base-excision repair|nucleotide-excision repair	nucleus	DNA-(apurinic or apyrimidinic site) lyase activity|damaged DNA binding|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		AGGTGGTCAAGACAGGGGGCA	0.572000								Base excision repair (BER), DNA glycosylases						122			10		0	0	0.000673444	0	0
MYO7A	4647	broad.mit.edu	37	11	76910721	76910721	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:76910721C>T	uc001oyb.2	+	34	4982	c.4710C>T	c.(4708-4710)ttC>ttT	p.F1570F	MYO7A_uc010rsm.1_Silent_p.F1521F|MYO7A_uc001oyc.2_Silent_p.F1532F|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.F743F	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1570	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCCCAGCTTCACGCTGGCCA	0.637000														19			11		0	0	0.00136819	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806727	33806727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:33806727C>T	uc002hjn.3	-	2	1303	c.589G>A	c.(589-591)Gaa>Aaa	p.E197K	SLFN12L_uc021tuy.1_Missense_Mutation_p.E168K	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	200						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCAGTTTTTTCCATGTCTTTG	0.453000														16			6		0	0	0.000274275	0	0
KANK2	25959	broad.mit.edu	37	19	11285168	11285168	+	Silent	SNP	C	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:11285168C>A	uc002mqm.3	-	6	2152	c.2073G>T	c.(2071-2073)gtG>gtT	p.V691V	KANK2_uc021upe.1_Silent_p.V683V|KANK2_uc002mqo.4_Silent_p.V683V|KANK2_uc002mqp.1_Silent_p.V492V	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	683										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCAGCTGCTGCACCACGGGGA	0.637000														13			4		0.00024832	0.00151547	0.00024832	1	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	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					51			26		0	0	0.00106085	0	0
TMEM97	27346	broad.mit.edu	37	17	26652620	26652620	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:26652620A>G	uc002hat.3	+	1	363	c.218A>G	c.(217-219)gAg>gGg	p.E73G		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	Homo sapiens transmembrane protein 97 (TMEM97), mRNA.	73					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding	p.E73*(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CTGTTTTGCGAGCTTGTGTTT	0.453000														81			43		0	0	0.000437636	0	0
LRP5	4041	broad.mit.edu	37	11	68115510	68115510	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:68115510G>A	uc001ont.3	+	1	362	c.287G>A	c.(286-288)gGg>gAg	p.G96E	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	96	Beta-propeller 1.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AACCAGACGGGGGCCGCCGTG	0.637000														107			23		0	0	0.00047179	0	0
KCNB2	9312	broad.mit.edu	37	8	73849017	73849017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:73849017C>T	uc003xzb.3	+	2	2015	c.1427C>T	c.(1426-1428)gCc>gTc	p.A476V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	476					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAGAGTCCGCCAACACAAAG	0.522000														121			38		0	0	0.00148497	0	0
PARP14	54625	broad.mit.edu	37	3	122404049	122404049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:122404049G>A	uc003efq.4	+	1	264	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAAGGTTCTGGAGAGAAAAAA	0.393000														22			27		0	0	0.00106085	0	0
MYLK	4638	broad.mit.edu	37	3	123376213	123376213	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:123376213G>T	uc003ego.3	-	23	4330	c.4048C>A	c.(4048-4050)Ctg>Atg	p.L1350M	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Missense_Mutation_p.L150M|MYLK_uc011bjw.2_Missense_Mutation_p.L1350M|MYLK_uc003egp.3_Missense_Mutation_p.L1281M|MYLK_uc003egq.3_Missense_Mutation_p.L1350M|MYLK_uc003egr.3_Missense_Mutation_p.L1281M|MYLK_uc003egs.3_Missense_Mutation_p.L1174M	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1350	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TACCAGGACAGGGTCAGTGAG	0.547000														21			20		7.45023e-12	4.62288e-11	0.00152264	1	0
MORC2	22880	broad.mit.edu	37	22	31330890	31330890	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr22:31330890G>A	uc003aje.1	-	19	3249	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	691							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGCTGCACCAGAGGGGCAGGT	0.587000														67			65		0	0	0.000781405	0	0
NISCH	11188	broad.mit.edu	37	3	52521644	52521644	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:52521644G>A	uc003ded.4	+	15	2270	c.2136G>A	c.(2134-2136)tgG>tgA	p.W712*	NISCH_uc003dee.4_Nonsense_Mutation_p.W201*|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	712	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AGGTGCTGTGGTGCTTCCTGA	0.632000														15			25		0	0	0.000586117	0	0
PRR4	11272	broad.mit.edu	37	12	10999770	10999770	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:10999770G>A	uc001qyz.4	-	2	336	c.297C>T	c.(295-297)caC>caT	p.H99H	PRH1_uc001qzb.4_Non-coding_Transcript|TAS2R14_uc021qve.1_Non-coding_Transcript|PRR4_uc001qza.4_Intron	NM_007244	NP_009175	Q16378	PROL4_HUMAN	Homo sapiens proline rich 4 (lacrimal) (PRR4), transcript variant 2, mRNA.	99					visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						AGAGTTGACGGTGTCCTCGTC	0.557000														140			73		0	0	0.000781405	0	0
NETO1	81832	broad.mit.edu	37	18	70451055	70451055	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:70451055G>A	uc002lkw.3	-	6	1010	c.726C>T	c.(724-726)tcC>tcT	p.S242S	NETO1_uc002lky.2_Silent_p.S242S	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	242	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.S241C(1)|p.S241I(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AATCCTCCACGGAACTGCTTC	0.443000														77			56		0	0	0.000781405	0	0
ATP8A2	51761	broad.mit.edu	37	13	26154053	26154053	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:26154053C>T	uc001uqk.3	+	21	2117	c.1975C>T	c.(1975-1977)Cgg>Tgg	p.R659W	ATP8A2_uc010tdi.2_Missense_Mutation_p.R619W|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.R169W	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	619					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CAGAGCTCAACGGTTGGAAGA	0.443000														39			15		0	0	0.000308642	0	0
UNC45B	146862	broad.mit.edu	37	17	33501269	33501269	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:33501269G>A	uc002hja.3	+	13	1942	c.1845G>A	c.(1843-1845)aaG>aaA	p.K615K	UNC45B_uc002hjb.3_Silent_p.K613K|UNC45B_uc002hjc.3_Silent_p.K613K|UNC45B_uc010cto.3_Silent_p.K534K	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	615					cell differentiation|muscle organ development	cytosol	binding	p.K615*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGACAAGAAGGACTTTATAG	0.517000														137			60		0	0	0.000781405	0	0
FZD10	11211	broad.mit.edu	37	12	130649206	130649206	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:130649206C>T	uc001uii.3	+	0	2203	c.1719C>T	c.(1717-1719)atC>atT	p.I573I	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	573					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AATATGAGATCCCTGCCCAGT	0.552000														19			17		0	0	0.000958276	0	0
NWD1	284434	broad.mit.edu	37	19	16860971	16860971	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:16860971C>T	uc002neu.4	+	5	1940	c.1518C>T	c.(1516-1518)ctC>ctT	p.L506L	NWD1_uc002net.4_Silent_p.L371L|NWD1_uc002nev.4_Silent_p.L300L|NWD1_uc021uqg.1_Silent_p.L371L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	506	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGATCCAACTCCTGCTGGCAG	0.642000														59			29		0	0	0.00178596	0	0
SAV1	60485	broad.mit.edu	37	14	51132299	51132299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:51132299G>A	uc001wyh.1	-	1	471	c.133C>T	c.(133-135)Cca>Tca	p.P45S	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	45					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GTTCGTCTTGGAATTGTTGGA	0.358000														35			5		0	0	0.000602214	0	0
PRTG	283659	broad.mit.edu	37	15	55919241	55919241	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:55919241G>A	uc002adg.3	-	16	2940	c.2892C>T	c.(2890-2892)atC>atT	p.I964I		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	964					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TGAGAACACAGATGAGGATGC	0.408000														41			18		0	0	0.00074312	0	0
KIAA1244	57221	broad.mit.edu	37	6	138607931	138607931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:138607931C>T	uc003qhu.3	+	15	2834	c.2663C>T	c.(2662-2664)tCc>tTc	p.S888F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	888					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCGGGGAGCTCCAAAGGGCTG	0.567000														52			48		0	0	0.000781405	0	0
GDAP1	54332	broad.mit.edu	37	8	75276227	75276228	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:75276227_75276228CC>TT	uc003yah.3	+	5	781_782	c.702_703CC>TT	c.(700-705)ggccag>ggTTag	p.Q235*	GDAP1_uc011lfj.2_Nonsense_Mutation_p.Q120*|GDAP1_uc003yai.3_Nonsense_Mutation_p.Q167*	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	235	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TAGAAGAGGGCCAGCAACCTTG	0.510000														32			14		0	0	6.4e-05	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18139841	18139841	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:18139841T>C	uc021wbb.1	+	3	1051	c.614T>C	c.(613-615)gTt>gCt	p.V205A	CSRP2BP_uc002wqk.3_Missense_Mutation_p.V77A|CSRP2BP_uc010zru.2_Missense_Mutation_p.V77A	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	205					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TGGAAACTTGTTCATAACAAG	0.483000														36			21		0	0	0.00152264	0	0
LRRC15	131578	broad.mit.edu	37	3	194081290	194081290	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:194081290C>T	uc003ftt.3	-	2	626	c.501G>A	c.(499-501)ctG>ctA	p.L167L	LRRC15_uc003ftu.3_Silent_p.L161L|LRRC15_uc021xiy.1_Silent_p.L161L	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	161						integral to membrane		p.G167*(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGATGTATTCCAGGTGGTTGC	0.572000														72			81		0	0	0.000781405	0	0
SLC9C2	284525	broad.mit.edu	37	1	173526486	173526486	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:173526486G>A	uc001giz.2	-	9	1631	c.1208C>T	c.(1207-1209)cCa>cTa	p.P403L	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	403					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TACCATTTGTGGTACTTCCAC	0.373000														130			43		0	0	0.00195071	0	0
NUPL1	9818	broad.mit.edu	37	13	25889500	25889500	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:25889500G>A	uc001uqi.3	+	5	826	c.580G>A	c.(580-582)Gga>Aga	p.G194R	NUPL1_uc001uqg.1_Missense_Mutation_p.G194R|NUPL1_uc001uqj.3_Missense_Mutation_p.G182R	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	Homo sapiens nucleoporin like 1 (NUPL1), transcript variant 1, mRNA.	194	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		p.G194*(2)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TATAGGACTTGGACAGAATGC	0.378000														259			94		0	0	0.000781405	0	0
ZNF582	147948	broad.mit.edu	37	19	56896336	56896336	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:56896336G>A	uc002qmy.3	-	4	836	c.543C>T	c.(541-543)ccC>ccT	p.P181P	ZNF582_uc002qmz.1_Silent_p.P150P	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GGTCAAAAGTGGGCATTTCTT	0.378000														90			44		0	0	0.000509022	0	0
OR51M1	390059	broad.mit.edu	37	11	5410796	5410796	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:5410796C>T	uc010qzc.2	+	0	190	c.168C>T	c.(166-168)ttC>ttT	p.F56F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	56						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAATTGTTTCATTCTGATCA	0.453000														119			18		0	0	0.000566183	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105420355	105420355	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:105420355C>A	uc001tlc.3	-	21	2811	c.2684G>T	c.(2683-2685)gGa>gTa	p.G895V	ALDH1L2_uc009zuo.3_Missense_Mutation_p.G350V|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	895	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding	p.G895*(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTGTTTAACTCCGCCAAATGG	0.393000														71			30		1.7881e-09	1.1049e-08	0.001512	1	0
F7	2155	broad.mit.edu	37	13	113760179	113760179	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:113760179C>T	uc001vsv.3	+	0	75	c.24C>T	c.(22-24)ctC>ctT	p.L8L	F7_uc010agp.1_Silent_p.L23L|F7_uc001vsw.3_Silent_p.L8L|F7_uc010tjt.2_Silent_p.L23L	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	8					anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCTCAGGCTCCTCTGCCTTC	0.592000														15			7		0	0	0.000157383	0	0
SRRM2	23524	broad.mit.edu	37	16	2816697	2816698	+	Missense_Mutation	DNP	CC	TT	TT	rs144781002		TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:2816697_2816698CC>TT	uc002crk.3	+	10	6717_6718	c.6168_6169CC>TT	c.(6166-6171)tcccgt>tcTTgt	p.R2057C	SRRM2_uc002crj.1_Missense_Mutation_p.R1961C|SRRM2_uc002crl.1_Missense_Mutation_p.R2057C|SRRM2_uc010bsu.1_Missense_Mutation_p.R1961C	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2057	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCTCCAGATCCCGTACTCCACG	0.564000														41			21		0	0	6.4e-05	0	0
C17orf70	80233	broad.mit.edu	37	17	79517916	79517916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:79517916G>A	uc002kaq.3	-	2	677	c.604C>T	c.(604-606)Cca>Tca	p.P202S	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.P51S	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	202					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GAGCCTGATGGTGACACAGAG	0.672000														20			9		0	0	0.000442599	0	0
PAK7	57144	broad.mit.edu	37	20	9624913	9624913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:9624913G>A	uc002wnl.2	-	3	609	c.64C>T	c.(64-66)Cat>Tat	p.H22Y	PAK7_uc002wnk.2_Missense_Mutation_p.H22Y|PAK7_uc002wnj.2_Missense_Mutation_p.H22Y|PAK7_uc010gby.1_Missense_Mutation_p.H22Y	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	22	CRIB.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AACCCAGTATGAACCCTGTGT	0.468000														47			31		0	0	0.000692331	0	0
LIPE	3991	broad.mit.edu	37	19	42931281	42931281	+	Silent	SNP	T	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:42931281T>G	uc002otr.3	-	0	298	c.21A>C	c.(19-21)tcA>tcC	p.S7S	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	7					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ACCTAGACACTGACTTAGAAC	0.527000														50			23		0	0	0.000375601	0	0
CILP2	148113	broad.mit.edu	37	19	19656504	19656504	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:19656504C>T	uc002nmw.4	+	7	3253	c.3168C>T	c.(3166-3168)gcC>gcT	p.A1056A	CILP2_uc002nmv.4_Silent_p.A1050A	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	1050						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCATGCTGGCCCCCCTAGACC	0.657000														18			7		0	0	8.12818e-05	0	0
GBF1	8729	broad.mit.edu	37	10	104140011	104140011	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr10:104140011C>T	uc001kux.2	+	36	5175	c.4881C>T	c.(4879-4881)ttC>ttT	p.F1627F	GBF1_uc001kuy.2_Silent_p.F1623F|GBF1_uc001kuz.2_Silent_p.F1624F	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1627					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CATAGGTCTTCCTGCAGCACC	0.587000														47			66		0	0	0.000781405	0	0
SERPING1	710	broad.mit.edu	37	11	57373518	57373518	+	Missense_Mutation	SNP	C	T	T	rs145436911		TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:57373518C>T	uc001nkp.1	+	4	912	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	SERPING1_uc010rju.1_Missense_Mutation_p.R189W|SERPING1_uc010rjv.1_Missense_Mutation_p.R246W|SERPING1_uc001nkr.1_Missense_Mutation_p.R241W|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	241					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GAATGCCTCTCGGACCCTGTA	0.527000														100			20		0	0	0.000958276	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831649	7831649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:7831649G>A	uc010dvt.3	+	4	1010	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.E275K|CLEC4M_uc010xjw.2_Missense_Mutation_p.E231K|CLEC4M_uc010dvs.3_Missense_Mutation_p.E274K|CLEC4M_uc010xjx.2_Missense_Mutation_p.E247K|CLEC4M_uc002mhz.3_Missense_Mutation_p.E206K|CLEC4M_uc002mic.3_Missense_Mutation_p.E270K|CLEC4M_uc002mia.3_Missense_Mutation_p.E162K	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	298	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CGCCTGCCAGGAAGTGAGGGC	0.597000														69			24		0	0	0.000878237	0	0
SIRPG	55423	broad.mit.edu	37	20	1638337	1638337	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:1638337G>A	uc002wfm.1	-	0	89	c.24C>T	c.(22-24)ccC>ccT	p.P8P	SIRPG_uc002wfn.1_Silent_p.P8P|SIRPG_uc002wfo.1_Silent_p.P8P	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	8					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CAGGAGGATGGGGCCAGGAGG	0.552000														63			23		0	0	0.00047179	0	0
AK022914	0	broad.mit.edu	37	14	19857036	19857036	+	RNA	SNP	A	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:19857036A>G	uc001vvq.1	-	4		c.494T>C								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		CTGGATAATAAAGTTCATCTC	0.373000														162			5		0	0	0.000602214	0	0
KCNG1	3755	broad.mit.edu	37	20	49626217	49626217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:49626217G>A	uc002xwa.4	-	1	954	c.659C>T	c.(658-660)cCg>cTg	p.P220L	KCNG1_uc002xwb.3_Missense_Mutation_p.P220L	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	220						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCCCGAGTGCGGCCTCTCCAC	0.726000														19			7		0	0	8.12818e-05	0	0
PDE1C	5137	broad.mit.edu	37	7	31855585	31855585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:31855585C>T	uc003tcm.2	-	14	2227	c.1766G>A	c.(1765-1767)gGg>gAg	p.G589E	PDE1C_uc003tcn.1_Missense_Mutation_p.G589E|PDE1C_uc003tco.2_Missense_Mutation_p.G649E|PDE1C_uc003tcr.3_Missense_Mutation_p.G589E|PDE1C_uc003tcs.3_Missense_Mutation_p.G589E	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	589					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GGAGTTTTTCCCACGAGGGTT	0.458000														189			70		0	0	0.000781405	0	0
MYADML	151325	broad.mit.edu	37	2	33952355	33952355	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:33952355A>G	uc002rpb.3	-	0	930	c.488T>C	c.(487-489)cTg>cCg	p.L163P						Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																		CAGCCCCAACAGGAAACTGGG	0.627000														10			17		0	0	0.00121646	0	0
SNTG1	54212	broad.mit.edu	37	8	51571223	51571224	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:51571223_51571224GG>AA	uc010lxy.1	+	16	1409	c.1038_splice	c.e16+1	p.K346_splice	SNTG1_uc003xqs.1_Splice_Site_p.K346_splice|SNTG1_uc010lxz.1_Splice_Site_p.K346_splice|SNTG1_uc011ldl.1_Splice_Site	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	346	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				AGATCCTCAAGGTATGATCAAT	0.371000														39			18		0	0	6.4e-05	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467791	35467791	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr21:35467791C>T	uc021wir.1	+	0	294	c.294C>T	c.(292-294)atC>atT	p.I98I	SLC5A3_uc002yto.3_Silent_p.I98I|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	98						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GGGTTTTCATCCCAATTTACA	0.478000														232			279		0	0	0.000781405	0	0
KLC3	147700	broad.mit.edu	37	19	45850770	45850770	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:45850770G>A	uc002pbg.1	+	2	697	c.597G>A	c.(595-597)agG>agA	p.R199R	KLC3_uc002pbf.1_Silent_p.R185R|KLC3_uc010ejy.1_Silent_p.R184R	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	185						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AGGAGGAGAGGAAAGGTGGGT	0.657000														49			14		0	0	0.000219431	0	0
CUX1	1523	broad.mit.edu	37	7	101840359	101840359	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:101840359C>T	uc003uys.4	+	14	1828	c.1701C>T	c.(1699-1701)atC>atT	p.I567I	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.I556I	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	556					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTGCAGAAATCGCCCGGCAGG	0.537000														138			58		0	0	0.000781405	0	0
ZNF490	57474	broad.mit.edu	37	19	12691317	12691317	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:12691317A>C	uc002mtz.2	-	4	1701	c.1572T>G	c.(1570-1572)caT>caG	p.H524Q		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TCTGTCTACTATGAGTCCTTT	0.398000														157			50		0	0	0.000781405	0	0
KLHDC3	116138	broad.mit.edu	37	6	42985004	42985004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:42985004G>A	uc003otl.3	+	1	379	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	KLHDC3_uc003otn.3_5'UTR|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Intron|KLHDC3_uc003oto.3_Missense_Mutation_p.R25Q	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	25					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTCGGGCATCGGGTATACTCC	0.572000														119			11		0	0	0.000673444	0	0
IQCH	64799	broad.mit.edu	37	15	67713666	67713666	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:67713666C>T	uc002aqo.2	+	15	2353	c.2256C>T	c.(2254-2256)gtC>gtT	p.V752V	IQCH_uc002aqp.2_Silent_p.V413V|IQCH_uc002aqq.2_Silent_p.V409V|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	752										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CAGACAATGTCACCAACCTCA	0.517000														45			12		0	0	0.00136819	0	0
OR6V1	346517	broad.mit.edu	37	7	142749478	142749478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:142749478G>A	uc011ksv.2	+	0	41	c.41G>A	c.(40-42)gGc>gAc	p.G14D		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GTCCTCTTGGGCTTCTCCTCC	0.512000														129			46		0	0	0.000781405	0	0
SELP	6403	broad.mit.edu	37	1	169588454	169588454	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:169588454T>G	uc001ggi.4	-	1	72	c.7A>C	c.(7-9)Aac>Cac	p.N3H	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.N3H	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	3					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ATTTGGCAGTTGGCCTGAAAC	0.383000														89			6		0	0	0.00116845	0	0
ALPK2	115701	broad.mit.edu	37	18	56204595	56204595	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:56204595C>T	uc002lhj.4	-	4	3038	c.2824G>A	c.(2824-2826)Gaa>Aaa	p.E942K	ALPK2_uc002lhk.1_Missense_Mutation_p.E273K	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	942			E -> K (in an ovarian undifferentiated carcinoma sample; somatic mutation).				ATP binding|protein serine/threonine kinase activity	p.E308K(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGCTGTGTTTCATCAAGCCCT	0.527000														33			22		0	0	0.00188189	0	0
TUBB3	10381	broad.mit.edu	37	16	90001226	90001226	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:90001226G>T	uc002fpf.2	+	4	1816	c.1408G>T	c.(1408-1410)Gag>Tag	p.E470*	TUBB3_uc010ciz.1_Nonsense_Mutation_p.E51*|TUBB3_uc002fph.2_Nonsense_Mutation_p.E123*|TUBB3_uc002fpj.1_Nonsense_Mutation_p.E51*|TUBB3_uc002fpk.1_5'UTR	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	123					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGTGCGGAAGGAGTGTGAAAA	0.652000														52			18		2.4624e-09	1.51524e-08	0.00121646	1	0
DNAH7	56171	broad.mit.edu	37	2	196681592	196681592	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:196681592G>A	uc002utj.4	-	50	9622	c.9521C>T	c.(9520-9522)tCc>tTc	p.S3174F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3174	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGCCTTGGAGGAAGATAATAT	0.403000														84			15		0	0	0.000308642	0	0
FAM113B	91523	broad.mit.edu	37	12	47629822	47629822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:47629822C>T	uc001rpq.3	+	1	1501	c.976C>T	c.(976-978)Cat>Tat	p.H326Y	FAM113B_uc001rpn.3_Missense_Mutation_p.H326Y|FAM113B_uc021qxi.1_Missense_Mutation_p.H326Y	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	326	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					tcccATTCTCCATCACCAGGG	0.592000														95			45		0	0	0.000781405	0	0
DMXL2	23312	broad.mit.edu	37	15	51830432	51830432	+	Silent	SNP	A	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:51830432A>G	uc010ufy.2	-	9	1548	c.1323T>C	c.(1321-1323)ggT>ggC	p.G441G	DMXL2_uc002abf.3_Silent_p.G441G|DMXL2_uc010bfa.3_Silent_p.G441G	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	441						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCATATGTAAACCCCGTTCTC	0.358000														110			7		0	0	0.000274275	0	0
ZNF347	84671	broad.mit.edu	37	19	53644084	53644084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:53644084G>A	uc002qbc.2	-	4	2427	c.2000C>T	c.(1999-2001)tCa>tTa	p.S667L	ZNF347_uc002qbb.2_Missense_Mutation_p.S666L|ZNF347_uc010eql.2_Missense_Mutation_p.S667L	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	666					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H667Q(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGCAAGGTGTGAATTCTGAGT	0.418000														88			38		0	0	0.00195071	0	0
C12orf42	374470	broad.mit.edu	37	12	103699889	103699889	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:103699889G>A	uc001tjt.2	-	4	582	c.494C>T	c.(493-495)tCa>tTa	p.S165L	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.S165L|C12orf42_uc001tju.2_Missense_Mutation_p.S70L	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	165										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TTCCAAAAATGAACTGTTCCA	0.488000														56			36		0	0	0.000491102	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910676	230910676	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:230910676T>C	uc002vqd.2	-	3	1625	c.1166A>G	c.(1165-1167)aAc>aGc	p.N389S	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.N389S|SLC16A14_uc002vqf.3_Missense_Mutation_p.N389S	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	389						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAGGGTGAAGTTGGCCAACAG	0.468000														23			16		0	0	0.000566183	0	0
SCN7A	6332	broad.mit.edu	37	2	167304175	167304175	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:167304175G>A	uc002udu.2	-	10	1464	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	445					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGTCTGTGGAAATTGGTGA	0.383000														62			48		0	0	0.000781405	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47218632	47218632	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:47218632A>G	uc002ion.2	+	1	277	c.218A>G	c.(217-219)aAg>aGg	p.K73R	B4GALNT2_uc010wlt.1_5'UTR|B4GALNT2_uc010wlu.1_Missense_Mutation_p.K13R	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	73					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGCTCCTCAAGATATTGGTC	0.393000														184			80		0	0	0.000781405	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64138132	64138132	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:64138132C>T	uc001oae.3	+	15	2138	c.2055C>T	c.(2053-2055)ctC>ctT	p.L685L	RPS6KA4_uc001oad.3_Silent_p.L679L|RPS6KA4_uc010rnl.2_Silent_p.L622L|RPS6KA4_uc001oaf.3_Silent_p.L678L|RPS6KA4_uc009ypp.3_Silent_p.L437L	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	685					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CGCCCCCGCTCCGGACGCCCG	0.711000														8			8		0	0	0.000157383	0	0
HES1	3280	broad.mit.edu	37	3	193854430	193854430	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:193854430A>T	uc003ftq.2	+	1	372	c.133A>T	c.(133-135)Aga>Tga	p.R45*	HES1_uc011bst.2_Nonsense_Mutation_p.R45*	NM_005524	NP_005515	Q14469	HES1_HUMAN	Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA.	45					Notch signaling pathway|endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		TATGGAGAAAAGACGAAGAGC	0.428000														16			11		0	0	0.00185496	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042101	75042102	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:75042101_75042102CC>TT	uc002ayr.1	+	1	86_87	c.22_23CC>TT	c.(22-24)ccc>TTc	p.P8F		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	8					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCAGTCTGTTCCCTTCTCGGCC	0.535000														214			88		0	0	6.4e-05	0	0
ANAPC7	51434	broad.mit.edu	37	12	110812041	110812041	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:110812041T>A	uc001tqo.2	-	10	1709	c.1708A>T	c.(1708-1710)Atg>Ttg	p.M570L		NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	570					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTCCCTTCCATGTCGTCCACA	0.612000														115			5		0	0	8.12818e-05	0	0
PROC	5624	broad.mit.edu	37	2	128186177	128186177	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:128186177C>A	uc002tol.3	+	8	1131	c.1104C>A	c.(1102-1104)agC>agA	p.S368R	PROC_uc002tok.3_Missense_Mutation_p.S347R|PROC_uc010yzi.2_Missense_Mutation_p.S403R|PROC_uc010yzj.2_Missense_Mutation_p.S242R|PROC_uc010yzk.2_Missense_Mutation_p.S402R	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	347	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	ACCACAGCAGCCGAGAGAAGG	0.617000														135			9		3.09899e-07	1.89909e-06	0.000274275	1	0
CYP4F12	66002	broad.mit.edu	37	19	15784510	15784510	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:15784510G>A	uc002nbl.3	+	1	290	c.171G>A	c.(169-171)cgG>cgA	p.R57R	CYP4F12_uc010xoo.2_Silent_p.R57R|CYP4F12_uc010xop.2_Silent_p.R57R	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)					CCCCAAAACGGAACTGGTTTT	0.587000														91			41		0	0	0.000509022	0	0
IL19	29949	broad.mit.edu	37	1	207010336	207010336	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:207010336C>T	uc001hep.3	+	3	1117	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	IL19_uc001heo.3_Silent_p.L98L|IL19_uc010prx.1_Silent_p.L60L	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	Homo sapiens interleukin 19 (IL19), transcript variant 2, mRNA.	60					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TGTCACTATCCTGTCCACATT	0.428000														79			42		0	0	0.000781405	0	0
NEK5	341676	broad.mit.edu	37	13	52646132	52646132	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:52646132C>T	uc001vge.3	-	20	2012	c.1872G>A	c.(1870-1872)gaG>gaA	p.E624E		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	624							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AATCTCCATGCTCCTTTACAC	0.358000														26			16		0	0	0.000308642	0	0
FMO1	2326	broad.mit.edu	37	1	171251294	171251294	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:171251294C>T	uc009wvz.3	+	6	1141	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	FMO1_uc010pme.2_Silent_p.F272F|FMO1_uc001ghl.3_Silent_p.F335F|FMO1_uc001ghm.3_Silent_p.F335F	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	335					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATTTGCTTTCCCCTTCCTTG	0.418000														69			39		0	0	0.00148497	0	0
LHX4	89884	broad.mit.edu	37	1	180217561	180217561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:180217561G>A	uc001goe.2	+	1	450	c.218G>A	c.(217-219)gGg>gAg	p.G73E		NM_033343	NP_203129	Q969G2	LHX4_HUMAN	Homo sapiens LIM homeobox 4 (LHX4), mRNA.	73	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						TCCAGGGCTGGGAGCGTCTAC	0.587000														58			27		0	0	0.000720815	0	0
ADAM7	8756	broad.mit.edu	37	8	24300054	24300054	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:24300054C>T	uc003xeb.3	+	1	234	c.121C>T	c.(121-123)Cga>Tga	p.R41*	ADAM7_uc003xea.1_Nonsense_Mutation_p.R41*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	41					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATACAGAAGCGAGATACTGG	0.403000														160			53		0	0	0.000781405	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	22797	22797	+	RNA	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrGL000241.1:22797C>T	uc011mgv.2	-	5		c.623G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		ACAACAAGTTCATCTGAATTT	0.323000														106			5		0	0	8.12818e-05	0	0
DOK7	285489	broad.mit.edu	37	4	3495069	3495069	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr4:3495069G>A	uc003ghd.3	+	6	1426	c.1356G>A	c.(1354-1356)cgG>cgA	p.R452R	DOK7_uc003ghe.3_3'UTR|DOK7_uc003ghf.3_Missense_Mutation_p.G194E|DOK7_uc003ghg.1_Silent_p.R142R	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	452					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGAGACGGCGGGGCCTGGTGA	0.776000														6			7		0	0	0.000157383	0	0
RND1	27289	broad.mit.edu	37	12	49255804	49255804	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:49255804G>A	uc001rsn.3	-	2	409	c.306C>T	c.(304-306)agC>agT	p.S102S		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	102					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TCTTGAGTGCGCTGTCCACTG	0.473000														86			35		0	0	0.000953801	0	0
DNAH5	1767	broad.mit.edu	37	5	13911497	13911497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:13911497G>A	uc003jfd.2	-	11	1684	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	548	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAACCTACATGAAGGTCATTA	0.363000									Kartagener syndrome					49			14		0	0	0.000308642	0	0
MYO5B	4645	broad.mit.edu	37	18	47511176	47511176	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:47511176G>A	uc002leb.2	-	7	1146	c.858C>T	c.(856-858)ttC>ttT	p.F286F	MYO5B_uc021ukb.1_Silent_p.F285F	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	286	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTGATGTATAGAAAAAGTCCT	0.512000														58			7		0	0	0.000157383	0	0
GRIN3A	116443	broad.mit.edu	37	9	104433233	104433233	+	Silent	SNP	T	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr9:104433233T>C	uc004bbp.2	-	2	2062	c.1461A>G	c.(1459-1461)ggA>ggG	p.G487G	GRIN3A_uc004bbq.1_Silent_p.G487G	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	487			G -> R (in dbSNP:rs10989589).		response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	p.G487E(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGACAATCTTTCCCCCCTGCC	0.502000														161			7		0	0	0.000157383	0	0
TAF1C	9013	broad.mit.edu	37	16	84212771	84212771	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:84212771G>A	uc002fhn.3	-	13	2628	c.2386C>T	c.(2386-2388)Cag>Tag	p.Q796*	TAF1C_uc010vnz.2_Nonsense_Mutation_p.Q464*|TAF1C_uc002fho.3_Nonsense_Mutation_p.Q319*|TAF1C_uc010voa.2_Nonsense_Mutation_p.Q464*|TAF1C_uc002fhm.3_Nonsense_Mutation_p.Q702*|TAF1C_uc010vnx.2_Nonsense_Mutation_p.Q770*|TAF1C_uc010vny.2_Nonsense_Mutation_p.Q387*	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	796					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GTCAACTCCTGGGAGGGCGGG	0.662000														13			9		0	0	0.000442599	0	0
EDEM2	55741	broad.mit.edu	37	20	33703408	33703408	+	Missense_Mutation	SNP	G	A	A	rs146309337	byFrequency	TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:33703408G>A	uc002xbo.2	-	10	1665	c.1565C>T	c.(1564-1566)tCg>tTg	p.S522L	EDEM2_uc010zus.1_Missense_Mutation_p.S301L|EDEM2_uc002xbq.2_Missense_Mutation_p.S485L|EDEM2_uc010zut.1_Missense_Mutation_p.S481L|EDEM2_uc002xbn.2_Missense_Mutation_p.S370L|EDEM2_uc010zuu.1_Missense_Mutation_p.S246L	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	522					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCATGGCCCCGAACTAACAGT	0.522000														189			103		0	0	0.000781405	0	0
ADAM7	8756	broad.mit.edu	37	8	24300024	24300024	+	Missense_Mutation	SNP	C	T	T	rs137990671		TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:24300024C>T	uc003xeb.3	+	1	204	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	ADAM7_uc003xea.1_Missense_Mutation_p.R31C	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	31					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.R31C(6)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACAACTGGTTCGTCCTAAAAA	0.403000														214			72		0	0	0.000781405	0	0
AQP11	282679	broad.mit.edu	37	11	77301464	77301464	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:77301464C>T	uc001oyj.3	+	0	785	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L	AQP11_uc009yuu.3_Intron	NM_173039	NP_766627	Q8NBQ7	AQP11_HUMAN	Homo sapiens aquaporin 11 (AQP11), mRNA.	143						cell surface|integral to membrane	transporter activity			kidney(2)|large_intestine(1)|lung(5)	8	all_cancers(14;1.75e-17)|all_epithelial(13;4.7e-20)|Ovarian(111;0.249)		Epithelial(5;4.73e-49)|BRCA - Breast invasive adenocarcinoma(5;1.4e-30)			GAGCTTGGGTCTGACCCAGTA	0.597000														38			23		0	0	0.000375601	0	0
PIAS2	9063	broad.mit.edu	37	18	44408073	44408073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:44408073G>A	uc002lck.3	-	10	1544	c.1357C>T	c.(1357-1359)Cct>Tct	p.P453S	PIAS2_uc010dnp.3_Missense_Mutation_p.P151S|PIAS2_uc010xda.2_Missense_Mutation_p.P151S|PIAS2_uc002lcl.3_Missense_Mutation_p.P453S|PIAS2_uc002lcm.3_Missense_Mutation_p.P453S	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	453					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ACTGAACAAGGCTTACTGAGG	0.383000														48			12		0	0	0.000308642	0	0
DUSP27	92235	broad.mit.edu	37	1	167095025	167095025	+	Splice_Site	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:167095025G>A	uc001geb.1	+	5	672	c.656_splice	c.e5-1	p.G219_splice		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	219	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCATTTCAGGGAAAGTCCTGG	0.453000														25			15		0	0	0.000219431	0	0
TSC2	7249	broad.mit.edu	37	16	2098705	2098705	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:2098705C>A	uc002con.3	+	1	195	c.89C>A	c.(88-90)tCt>tAt	p.S30Y	TCRBV20S1_uc021tak.1_Intron|NTHL1_uc002col.1_5'Flank|TSC2_uc010uvu.1_Missense_Mutation_p.S30Y|TSC2_uc010bsd.3_Missense_Mutation_p.S30Y|TSC2_uc002coo.3_Missense_Mutation_p.S30Y|TSC2_uc010uvv.2_Missense_Mutation_p.S30Y|TSC2_uc010uvw.2_Intron|TSC2_uc002cop.3_5'UTR	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	30	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AATCCCAGGTCTGCAGAGGGT	0.498000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					68			24		7.87624e-14	4.90776e-13	0.000375601	1	0
DNAH5	1767	broad.mit.edu	37	5	13727715	13727715	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:13727715C>T	uc003jfd.2	-	69	11976	c.11934G>A	c.(11932-11934)ccG>ccA	p.P3978P	DNAH5_uc003jfc.2_Silent_p.P146P	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3978					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTCCTCCTCCGGGTTTTCCT	0.423000									Kartagener syndrome					29			17		0	0	0.00074312	0	0
AXL	558	broad.mit.edu	37	19	41754431	41754431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:41754431G>A	uc010ehj.3	+	12	1740	c.1550G>A	c.(1549-1551)gGc>gAc	p.G517D	AXL_uc010ehk.3_Missense_Mutation_p.G508D	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	517						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AACAGCCTGGGCATCAGTGAA	0.582000														39			24		0	0	0.000339439	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	RNA	SNP	T	G	G	rs10796418	by1000genomes	TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:16946407T>G	uc010ocf.2	-	2		c.491A>C			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		AGCAATCTCCTCACTCAGCTG	0.672000														17			3		0	0	0.000602214	0	0
AFM	173	broad.mit.edu	37	4	74350021	74350021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr4:74350021G>A	uc003hhb.3	+	2	215	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	62	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACCTTTGAAGAAATGGAAAA	0.403000														23			22		0	0	0.00188189	0	0
BOC	91653	broad.mit.edu	37	3	112968657	112968657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:112968657G>A	uc003dzx.3	+	2	629	c.8G>A	c.(7-9)cGt>cAt	p.R3H	BOC_uc010hqi.3_Missense_Mutation_p.R3H|BOC_uc003dzy.3_Missense_Mutation_p.R3H|BOC_uc003dzz.3_Missense_Mutation_p.R3H|BOC_uc003dzw.1_Missense_Mutation_p.R3H|BOC_uc003eaa.1_Missense_Mutation_p.R3H	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	3					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACCATGCTGCGTGGGACGATG	0.557000														23			24		0	0	0.00127121	0	0
ENGASE	64772	broad.mit.edu	37	17	77081744	77081744	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:77081744C>T	uc002jwv.3	+	12	1751	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	ENGASE_uc002jww.3_Silent_p.L286L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	581						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGCTAGACCTCCTCGTTTGCT	0.657000														47			15		0	0	0.00152264	0	0
CYP4F3	4051	broad.mit.edu	37	19	15754856	15754856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:15754856C>T	uc010xok.2	+	2	388	c.338C>T	c.(337-339)gCc>gTc	p.A113V	CYP4F3_uc010xol.2_Missense_Mutation_p.A113V|CYP4F3_uc002nbj.3_Intron|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.A113V	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	113					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GTCATCAACGCCTCAGGTACC	0.582000														42			9		0	0	0.000673444	0	0
BEST3	144453	broad.mit.edu	37	12	70049472	70049472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:70049472G>A	uc001svg.3	-	9	1449	c.1222C>T	c.(1222-1224)Ccc>Tcc	p.P408S	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.P195S|BEST3_uc010stm.2_Missense_Mutation_p.P302S	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	408						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCTTCTGGGGCTGGAGGGG	0.557000														109			54		0	0	0.000781405	0	0
ME1	4199	broad.mit.edu	37	6	83933597	83933597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:83933597C>T	uc003pjy.3	-	11	1596	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	ME1_uc011dzb.2_Missense_Mutation_p.G369E|ME1_uc011dzc.2_Missense_Mutation_p.G278E	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	444				NGQTLY -> DGRTLF (in Ref. 2; AAB01380).	NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TAGGGTCTGTCCATTTGGAAG	0.438000														23			4		0	0	0.00024832	0	0
FCRL5	83416	broad.mit.edu	37	1	157516848	157516848	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:157516848T>G	uc009wsm.3	-	2	350	c.192A>C	c.(190-192)aaA>aaC	p.K64N	FCRL5_uc001fqu.3_Missense_Mutation_p.K64N|FCRL5_uc010phv.1_Missense_Mutation_p.K64N|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.K64N|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	64	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTAGTATTTCTTTCCCAAGGT	0.502000														100			5		0	0	0.000602214	0	0
ZZEF1	23140	broad.mit.edu	37	17	4020382	4020382	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:4020382T>C	uc002fxe.3	-	2	642	c.578A>G	c.(577-579)aAt>aGt	p.N193S	ZZEF1_uc002fxk.1_Missense_Mutation_p.N193S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	193							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGAGAGCCGATTGCGGTGCAG	0.507000														117			51		0	0	0.000781405	0	0
MYH6	4624	broad.mit.edu	37	14	23865948	23865948	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:23865948G>A	uc001wjv.3	-	18	2318	c.2247C>T	c.(2245-2247)agC>agT	p.S749S		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	749	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGTCCAGAGAGCTGAGCAGCT	0.557000														38			37		0	0	0.000953801	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887470	12887470	+	Silent	SNP	T	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:12887470T>C	uc001auk.2	-	2	583	c.387A>G	c.(385-387)ctA>ctG	p.L129L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	129										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCTTGACCCATAGAAGGAGGC	0.468000														87			6		0	0	0.000673444	0	0
NMUR2	56923	broad.mit.edu	37	5	151784666	151784667	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:151784666_151784667CC>TT	uc003luv.2	-	0	174_175	c.8_9GG>AA	c.(7-9)ggg>gAA	p.G3E		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	3					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GTTTTTCCATCCCTGACATTAA	0.431000														89			26		0	0	6.4e-05	0	0
BBS1	582	broad.mit.edu	37	11	66287153	66287153	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:66287153G>A	uc001oii.1	+	7	846	c.768G>A	c.(766-768)ctG>ctA	p.L256L	BBS1_uc010rpf.1_Non-coding_Transcript|BBS1_uc001oil.1_Silent_p.L219L|BBS1_uc010rpg.1_Intron|BBS1_uc001oij.1_Silent_p.L219L|BBS1_uc001oik.1_Silent_p.L143L	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	219					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						TGTCTTGCCTGGTGCTGGGCA	0.597000									Bardet-Biedl syndrome					56			14		0	0	0.000422831	0	0
NCR1	9437	broad.mit.edu	37	19	55420643	55420643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:55420643C>T	uc002qib.2	+	3	433	c.395C>T	c.(394-396)cCc>cTc	p.P132L	NCR1_uc002qic.2_Missense_Mutation_p.P132L|NCR1_uc002qie.2_Missense_Mutation_p.P132L|NCR1_uc002qid.2_Missense_Mutation_p.P37L|NCR1_uc002qif.2_Missense_Mutation_p.P37L|NCR1_uc010esj.2_Missense_Mutation_p.P25L	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	132	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CATCCTGGACCCGAAGTGATC	0.512000														34			17		0	0	0.000422831	0	0
SLC43A1	8501	broad.mit.edu	37	11	57268284	57268284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:57268284C>T	uc001nkk.3	-	4	551	c.433G>A	c.(433-435)Ggt>Agt	p.G145S	SLC43A1_uc001nkl.3_Missense_Mutation_p.G145S	NM_001198810	NP_001185739	O75387	LAT3_HUMAN	Homo sapiens solute carrier family 43, member 1 (SLC43A1), transcript variant 2, mRNA.	145					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGATGCCACCAAAGCCATTC	0.592000														20			14		0	0	0.000219431	0	0
COL22A1	169044	broad.mit.edu	37	8	139611073	139611073	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:139611073G>A	uc003yvd.3	-	60	4701	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I	COL22A1_uc011ljo.2_Silent_p.I698I	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1418	Collagen-like 14.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1417*(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTGGCCTGGGATTCCAGGGT	0.592000										HNSCC(7;0.00092)				49			13		0	0	0.000308642	0	0
KCNB1	3745	broad.mit.edu	37	20	47989844	47989844	+	Silent	SNP	A	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:47989844A>C	uc002xur.1	-	1	2419	c.2253T>G	c.(2251-2253)ggT>ggG	p.G751G	KCNB1_uc002xus.1_Silent_p.G751G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	751					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.G751G(4)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACTGGTGGACACCCGCCTCAA	0.572000														169			19		0	0	0.000509022	0	0
ALG10	84920	broad.mit.edu	37	12	34179674	34179674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:34179674C>T	uc001rlm.3	+	2	1565	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	416					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGAATTTCGTTACTTCAT	0.348000														156			69		0	0	0.000781405	0	0
SLC6A5	9152	broad.mit.edu	37	11	20673876	20673876	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:20673876C>T	uc001mqd.3	+	14	2385	c.2112C>T	c.(2110-2112)acC>acT	p.T704T	SLC6A5_uc009yic.3_Silent_p.T469T	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	704					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AGCCCATGACCTATGGCTCTT	0.468000														65			55		0	0	0.000781405	0	0
ZHX1	11244	broad.mit.edu	37	8	124266335	124266335	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:124266335C>G	uc003yqe.3	-	2	2462	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.E618Q|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.E618Q|ZHX1_uc022bak.1_Missense_Mutation_p.E618Q	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	618					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTCTTCTTCTCTGTAAACCAA	0.373000														75			18		0	0	0.00152264	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995558	19995558	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:19995558G>A	uc002ktv.1	-	0	2321	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	739	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGGCTGGGGGGAAAAATGCAG	0.498000														13			11		0	0	0.000978159	0	0
IL5RA	3568	broad.mit.edu	37	3	3137117	3137117	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:3137117G>A	uc011ask.2	-	8	1365	c.721C>T	c.(721-723)Cct>Tct	p.P241S	IL5RA_uc010hbq.3_Intron|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.P241S|IL5RA_uc011asl.2_Missense_Mutation_p.P241S|IL5RA_uc011asm.1_Missense_Mutation_p.P241S|IL5RA_uc010hbt.2_Missense_Mutation_p.P241S|IL5RA_uc011asn.1_Missense_Mutation_p.P241S|IL5RA_uc010hbu.2_Missense_Mutation_p.P241S	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	241					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TTCAGTGGAGGATTTATTTGA	0.388000														16			18		0	0	0.00121646	0	0
ADAM7	8756	broad.mit.edu	37	8	24324332	24324332	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:24324332A>G	uc003xeb.3	+	5	523	c.410A>G	c.(409-411)gAc>gGc	p.D137G	ADAM7_uc003xea.1_Missense_Mutation_p.D137G	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	137					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGAATAAACGACCAAAGATAC	0.373000														79			15		0	0	0.000219431	0	0
CCR3	1232	broad.mit.edu	37	3	46306898	46306898	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:46306898C>T	uc003cpl.2	+	2	1379	c.348C>T	c.(346-348)ttC>ttT	p.F116F	CCR3_uc003cpg.2_Silent_p.F83F|CCR3_uc003cpk.2_Silent_p.F104F|CCR3_uc003cpi.2_Silent_p.F83F|CCR3_uc010hjb.2_Silent_p.F101F|CCR3_uc003cpj.2_Silent_p.F83F|CCR3_uc021wwz.1_Silent_p.F83F	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	83					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		ACCTGCTCTTCCTCGTCACCC	0.502000														76			80		0	0	0.000781405	0	0
WDR20	91833	broad.mit.edu	37	14	102675478	102675478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:102675478C>T	uc010txu.2	+	3	1136	c.1064C>T	c.(1063-1065)cCt>cTt	p.P355L	WDR20_uc001ylf.3_Missense_Mutation_p.P336L|WDR20_uc001ykz.3_Missense_Mutation_p.P324L|WDR20_uc001yky.2_Missense_Mutation_p.P67L|WDR20_uc001yla.3_3'UTR|WDR20_uc001ylb.3_Missense_Mutation_p.P263L|WDR20_uc001ylc.3_Intron|WDR20_uc001yle.3_Missense_Mutation_p.P263L|WDR20_uc001yld.3_Missense_Mutation_p.P324L	NM_001242417	NP_001229346	Q8TBZ3	WDR20_HUMAN	Homo sapiens WD repeat domain 20 (WDR20), transcript variant 7, mRNA.	324										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GAAGGTGACCCTATGGAGTTT	0.493000														22			22		0	0	0.000375601	0	0
BRCA2	675	broad.mit.edu	37	13	32913284	32913284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:32913284C>T	uc001uub.1	+	10	5019	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1598					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GCAGAATTCTCTCAATAATGA	0.368000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				79			33		0	0	0.000491102	0	0
SLIT3	6586	broad.mit.edu	37	5	168123404	168123404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:168123404C>T	uc010jjg.3	-	27	3416	c.2996G>A	c.(2995-2997)cGg>cAg	p.R999Q	SLIT3_uc003mab.3_Missense_Mutation_p.R992Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	992	EGF-like 3.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.R992Q(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATCTCACACCGCTGCCCCTC	0.587000														43			10		0	0	0.000673444	0	0
HCN1	348980	broad.mit.edu	37	5	45262228	45262228	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:45262228G>A	uc003jok.3	-	7	2493	c.2468C>T	c.(2467-2469)cCc>cTc	p.P823L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	823						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCCCGTTCCGGGGACCGCCGT	0.672000														25			4		0	0	0.000602214	0	0
SMYD5	10322	broad.mit.edu	37	2	73449886	73449886	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:73449886C>T	uc002siw.2	+	6	675	c.646C>T	c.(646-648)Caa>Taa	p.Q216*	SMYD5_uc010yre.1_Nonsense_Mutation_p.Q100*	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	216							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AATCCAGGGCCAACTGGAACT	0.577000														11			15		0	0	0.000566183	0	0
KALRN	8997	broad.mit.edu	37	3	124438270	124438270	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:124438270C>T	uc003ehg.3	+	59	9041	c.8914C>T	c.(8914-8916)Ccc>Tcc	p.P2972S	KALRN_uc003ehk.3_Missense_Mutation_p.P1275S	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2971					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCGGCCTATTCCCAATGTCAA	0.532000														28			21		0	0	0.00047179	0	0
ACTRT1	139741	broad.mit.edu	37	X	127185816	127185816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrX:127185816C>T	uc004eum.3	-	0	567	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	124						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AACATCATTTCTGCTAGCTTT	0.507000														47			47		0	0	0.000781405	0	0
XKR3	150165	broad.mit.edu	37	22	17288961	17288961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr22:17288961C>T	uc002zlv.3	-	1	101	c.3G>A	c.(1-3)atG>atA	p.M1I	XKR3_uc011agf.2_Missense_Mutation_p.M1I	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	1						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACACTGTCTCCATTCTCAGGG	0.388000														120			37		0	0	0.00195071	0	0
TLR7	51284	broad.mit.edu	37	X	12905615	12905615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrX:12905615G>A	uc004cvc.3	+	2	2127	c.1988G>A	c.(1987-1989)aGt>aAt	p.S663N		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	663					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|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-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AATTCCCTAAGTTTCTTGCCT	0.353000														32			75		0	0	0.000781405	0	0
MMP27	64066	broad.mit.edu	37	11	102567432	102567432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:102567432C>T	uc001phd.1	-	4	777	c.754G>A	c.(754-756)Gat>Aat	p.D252N		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	252					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCATTGATATCATCCTGAGAA	0.388000														27			9		0	0	0.000442599	0	0
KLHL17	339451	broad.mit.edu	37	1	898791	898791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:898791C>T	uc001aca.2	+	7	1369	c.1262C>T	c.(1261-1263)tCc>tTc	p.S421F	KLHL17_uc001acc.2_Non-coding_Transcript|KLHL17_uc010nyb.1_3'UTR	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	421	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGGAGGTGTCCATGGGCACA	0.622000														16			27		0	0	0.000878237	0	0
PTPRB	5787	broad.mit.edu	37	12	70981045	70981045	+	Missense_Mutation	SNP	G	A	A	rs3960114		TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:70981045G>A	uc001swb.4	-	6	1429	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PTPRB_uc010sto.2_Missense_Mutation_p.P467S|PTPRB_uc010stp.2_Missense_Mutation_p.P377S|PTPRB_uc001swc.4_Missense_Mutation_p.P685S|PTPRB_uc001swa.4_Missense_Mutation_p.P685S|PTPRB_uc001swd.4_Missense_Mutation_p.P684S|PTPRB_uc009zrr.2_Missense_Mutation_p.P564S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	467	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.P467S(3)|p.P685S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAGCCAGGGGGACTGAGGAA	0.458000														28			20		0	0	0.000295444	0	0
TAF7L	54457	broad.mit.edu	37	X	100532669	100532669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrX:100532669C>T	uc004ehb.3	-	8	900	c.874G>A	c.(874-876)Gaa>Aaa	p.E292K	TAF7L_uc004eha.3_Missense_Mutation_p.E206K|TAF7L_uc004ehc.2_Missense_Mutation_p.E206K	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	292					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCTTGACTTTCTATTTCCTTG	0.463000														30			38		0	0	0.00148497	0	0
FYB	2533	broad.mit.edu	37	5	39202529	39202529	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:39202529C>T	uc003jls.3	-	0	601	c.534G>A	c.(532-534)ggG>ggA	p.G178G	FYB_uc003jlt.3_Silent_p.G178G|FYB_uc003jlu.3_Silent_p.G178G|FYB_uc011cpl.2_Silent_p.G188G	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	178					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			ACATAAATTTCCCTTTAACCC	0.502000														80			27		0	0	0.00127121	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691861	122691861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:122691861G>A	uc001ubx.3	+	2	1281	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	B3GNT4_uc001uby.3_Missense_Mutation_p.E330K	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	355					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CAGCCCCCTCGAGATGTGGAC	0.627000														39			15		0	0	0.000566183	0	0
FABP6	2172	broad.mit.edu	37	5	159661892	159661892	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:159661892G>A	uc003lya.1	+	2	437	c.309G>A	c.(307-309)gaG>gaA	p.E103E	FABP6_uc003lxx.1_Silent_p.E152E|FABP6_uc003lxz.1_Silent_p.E152E|HI423497_uc021ygz.1_5'Flank	NM_001445	NP_001436	P51161	FABP6_HUMAN	Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA.	103					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	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)			AGACCTCAGAGATCGTGGGTG	0.527000														36			12		0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179588785	179588785	+	Silent	SNP	T	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:179588785T>C	uc021vsy.1	-	69	17694	c.17469A>G	c.(17467-17469)gtA>gtG	p.V5823V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V2484V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6750	Ig-like 39.						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)			ATGATCCAGCTACTTTGCATT	0.443000														27			29		0	0	0.00106085	0	0
CERKL	375298	broad.mit.edu	37	2	182413290	182413290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:182413290G>A	uc002unx.3	-	8	1294	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.S372F|CERKL_uc010zfm.2_Missense_Mutation_p.S354F|CERKL_uc002unz.3_Missense_Mutation_p.S120F|CERKL_uc002uoa.3_Missense_Mutation_p.S303F|CERKL_uc002uob.3_Missense_Mutation_p.S120F|CERKL_uc002uoc.3_Missense_Mutation_p.S259F|CERKL_uc021vth.1_Missense_Mutation_p.S167F|CERKL_uc021vti.1_Missense_Mutation_p.S120F|CERKL_uc021vtj.1_Missense_Mutation_p.S75F|CERKL_uc021vtk.1_Missense_Mutation_p.S120F|CERKL_uc021vtl.1_Missense_Mutation_p.S75F|CERKL_uc021vtm.1_Missense_Mutation_p.S167F|CERKL_uc002uod.2_Missense_Mutation_p.S167F|CERKL_uc002uoe.3_Missense_Mutation_p.S372F|CERKL_uc002unw.3_5'Flank	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	398					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CACATCATCAGAGCTGTTAAA	0.313000														20			14		0	0	0.000422831	0	0
MYH8	4626	broad.mit.edu	37	17	10317561	10317561	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:10317561C>T	uc002gmm.2	-	10	1051	c.956G>A	c.(955-957)gGg>gAg	p.G319E	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	319	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTGATCTCCCCCTGACTGAC	0.393000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					240			100		0	0	0.000781405	0	0
FSTL5	56884	broad.mit.edu	37	4	162841571	162841571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr4:162841571C>T	uc003iqh.3	-	3	830	c.394G>A	c.(394-396)Gac>Aac	p.D132N	FSTL5_uc003iqi.3_Missense_Mutation_p.D131N|FSTL5_uc010iqv.3_Missense_Mutation_p.D131N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	132	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AAGAAGCAGTCTTCATTGTGA	0.383000														17			19		0	0	0.000958276	0	0
GPC5	2262	broad.mit.edu	37	13	92345703	92345703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:92345703G>A	uc010tif.2	+	2	954	c.588G>A	c.(586-588)atG>atA	p.M196I		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	196						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R195L(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCATCCGGATGGCTCGCCGGG	0.498000														72			13		0	0	0.00136819	0	0
PEBP4	157310	broad.mit.edu	37	8	22582371	22582371	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:22582371C>T	uc003xcn.1	-	5	594	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K		NM_144962	NP_659399	Q96S96	PEBP4_HUMAN	Homo sapiens phosphatidylethanolamine-binding protein 4 (PEBP4), mRNA.	168						lysosome				breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		GTTTTGTTTTCCTTGGGAAGG	0.537000														57			13		0	0	0.000219431	0	0
KCNC3	3748	broad.mit.edu	37	19	50826917	50826917	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:50826917G>A	uc002pru.1	-	1	1588	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	KCNC3_uc002prt.1_Silent_p.F67F	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	431					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GCAGCCCCACGAAGTGCCGGG	0.657000														41			21		0	0	0.00152264	0	0
TREML5P	221438	broad.mit.edu	37	6	41217211	41217211	+	RNA	SNP	T	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:41217211T>C	uc003oqe.1	+	0		c.97T>C								Homo sapiens triggering receptor expressed on myeloid cells-like 2 pseudogene 1 (TREML2P1), non-coding RNA.																		TGAGCCTGGTTTCACCCAAGT	0.562000														45			72		0	0	0.000781405	0	0
DNAH17	8632	broad.mit.edu	37	17	76570995	76570995	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:76570995C>T	uc010dhp.2	-	1	270	c.145G>A	c.(145-147)Gtc>Atc	p.V49I		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCACCTGGACGTCGGGCTTT	0.567000														37			11		0	0	0.000978159	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376073	376074	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:376073_376074GG>AA	uc001lpb.3	+	12	1105	c.1096_splice	c.e12-1	p.V366_splice		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	366						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACCCCCCAGGTGTACCTGTC	0.668000														20			6		0	0	6.4e-05	0	0
OR4F6	390648	broad.mit.edu	37	15	102346732	102346732	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:102346732C>T	uc010utr.2	+	0	810	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F270C(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTGATAAATTCCTTGCCATCT	0.383000														72			35		0	0	0.000409698	0	0
GALNS	2588	broad.mit.edu	37	16	88904144	88904144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:88904144G>A	uc010cid.3	-	5	711	c.470C>T	c.(469-471)cCc>cTc	p.P157L	GALNS_uc002fly.4_Missense_Mutation_p.P151L|GALNS_uc002flz.4_Intron			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	151						lysosome	N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity|metal ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GTGCTTCAGGGGGTGGAACTG	0.572000														53			29		0	0	0.000491102	0	0
TRPC4	7223	broad.mit.edu	37	13	38211377	38211377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:38211377G>A	uc010abx.3	-	10	2847	c.2612C>T	c.(2611-2613)tCt>tTt	p.S871F	TRPC4_uc010abv.3_Missense_Mutation_p.S446F|TRPC4_uc001uwt.3_Intron|TRPC4_uc001uws.3_Missense_Mutation_p.S866F|TRPC4_uc010tey.2_Intron|TRPC4_uc010abw.3_Missense_Mutation_p.S693F|TRPC4_uc010aby.3_Intron	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	866	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCTGAAACAGAGAAGATTTG	0.408000														53			20		0	0	0.00188189	0	0
RASSF9	9182	broad.mit.edu	37	12	86198791	86198791	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:86198791G>A	uc001taf.1	-	1	1336	c.997C>T	c.(997-999)Cac>Tac	p.H333Y		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	333					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAATGAGAGTGAATTTTCAAA	0.393000														225			93		0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179647015	179647015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:179647015C>T	uc021vsy.1	-	19	3529	c.3304G>A	c.(3304-3306)Gga>Aga	p.G1102R	TTN_uc021vsz.1_Missense_Mutation_p.G1056R|TTN_uc021vta.1_Missense_Mutation_p.G1056R|TTN_uc021vtb.1_Missense_Mutation_p.G1056R|TTN_uc002unb.2_Missense_Mutation_p.G1102R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1102	Ig-like 4.						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)			ACTTGGCATCCAAACACCACG	0.498000														50			38		0	0	0.000953801	0	0
PSD2	84249	broad.mit.edu	37	5	139193814	139193814	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:139193814G>A	uc003leu.1	+	3	1086	c.881G>A	c.(880-882)gGg>gAg	p.G294E		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	294	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTCGGAGGGGTTGGAGCCT	0.632000														56			25		0	0	0.00047179	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15881905	15881905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:15881905C>T	uc010xor.1	-	3	492	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		TCCTGGATGACGGCATCTGTG	0.542000														43			25		0	0	0.000720815	0	0
MUC16	94025	broad.mit.edu	37	19	9057123	9057123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:9057123C>T	uc002mkp.3	-	2	30527	c.30323G>A	c.(30322-30324)gGa>gAa	p.G10108E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10110	Ser-rich.|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						ACTGGTGGTTCCCACATTGGT	0.478000														59			38		0	0	0.000814825	0	0
RANBP2	5903	broad.mit.edu	37	2	109371692	109371692	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:109371692T>C	uc002tem.4	+	16	2569	c.2443T>C	c.(2443-2445)Tgc>Cgc	p.C815R		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	815					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAAATGATTTGCCAACAAGT	0.348000														262			8		0	0	0.000157383	0	0
TRIM10	10107	broad.mit.edu	37	6	30126183	30126183	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:30126183A>G	uc003npo.3	-	2	825	c.749T>C	c.(748-750)cTc>cCc	p.L250P	TRIM10_uc003npn.2_Missense_Mutation_p.L250P	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	250						cytoplasm	zinc ion binding			ovary(1)	1						CACCGTCAGGAGCTCCCTTGC	0.532000														75			61		0	0	0.000781405	0	0
CDH7	1005	broad.mit.edu	37	18	63489479	63489479	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:63489479C>T	uc002lkb.3	+	4	1214	c.788C>T	c.(787-789)cCt>cTt	p.P263L	CDH7_uc002ljz.3_Missense_Mutation_p.P263L|CDH7_uc002lka.3_Missense_Mutation_p.P263L	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	263	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCTCGCTTTCCTCGAAGTAAG	0.363000														21			20		0	0	0.00188189	0	0
OGDHL	55753	broad.mit.edu	37	10	50966519	50966519	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr10:50966519G>C	uc009xog.3	-	0	235	c.201C>G	c.(199-201)ttC>ttG	p.F67L	OGDHL_uc001jie.3_Missense_Mutation_p.F40L|OGDHL_uc010qgt.2_Missense_Mutation_p.F40L|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_Intron	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	40					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGCTGCTTGGGAAGGTGGCCG	0.637000														25			39		0	0	0.00128727	0	0
OR5R1	219479	broad.mit.edu	37	11	56185523	56185523	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:56185523G>A	uc010rji.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGTGGCTGAGGAAATAGTACA	0.428000														38			10		0	0	0.000978159	0	0
ZFP64	55734	broad.mit.edu	37	20	50705006	50705006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:50705006G>A	uc002xwk.3	-	7	1502	c.1153C>T	c.(1153-1155)Ccg>Tcg	p.P385S	ZFP64_uc002xwj.3_Missense_Mutation_p.P166S	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CATTTGTACGGCCGCTCATCA	0.597000														105			43		0	0	0.000509022	0	0
TYW1B	441250	broad.mit.edu	37	7	72178689	72178689	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:72178689G>A	uc011kej.2	-	11	1416	c.1257C>T	c.(1255-1257)ctC>ctT	p.L419L	TYW1B_uc011keh.1_Silent_p.L257L|TYW1B_uc011kei.2_Silent_p.L46L	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	420					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GTTCTCCCACGAGGGACAATG	0.473000														36			17		0	0	0.000586117	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603964	140603964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:140603964C>T	uc003ljb.3	+	0	887	c.887C>T	c.(886-888)cCa>cTa	p.P296L		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	296	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAAATTAATCCAATATCTGGG	0.368000														34			15		0	0	0.000219431	0	0
LONP2	83752	broad.mit.edu	37	16	48311272	48311272	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:48311272C>G	uc002efi.1	+	7	1354	c.1265C>G	c.(1264-1266)cCt>cGt	p.P422R	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.P378R	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	422					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGCAGCATGCCTGGTCGCATC	0.483000														78			24		0	0	0.000720815	0	0
COPA	1314	broad.mit.edu	37	1	160260465	160260465	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:160260465G>A	uc001fvv.4	-	31	3853	c.3459C>T	c.(3457-3459)atC>atT	p.I1153I	COPA_uc009wti.3_Silent_p.I1144I	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1144					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCAGACAGGATTTTTCGGG	0.488000														176			61		0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196822000	196822000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:196822000C>T	uc002utj.4	-	18	3164	c.3063G>A	c.(3061-3063)atG>atA	p.M1021I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1021	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACACTTCTCATTATATCTC	0.378000														50			53		0	0	0.000781405	0	0
IGF1	3479	broad.mit.edu	37	12	102813412	102813412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:102813412C>T	uc001tjp.4	-	2	496	c.277G>A	c.(277-279)Gat>Aat	p.D93N	IGF1_uc001tjn.2_Missense_Mutation_p.D77N|IGF1_uc001tjm.2_Missense_Mutation_p.D93N|IGF1_uc001tjo.2_Missense_Mutation_p.D93N	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	93	A.				DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						CAGCACTCATCCACGATGCCT	0.587000														46			10		0	0	0.000978159	0	0
C4orf40	401137	broad.mit.edu	37	4	71024103	71024103	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr4:71024103G>A	uc003hfa.4	+	3	207	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	C4orf40_uc003hfb.4_Missense_Mutation_p.R45Q	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	45						extracellular region		p.R45W(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TATGGCATACGGAATTTACCA	0.433000														52			46		0	0	0.000781405	0	0
AGFG1	3267	broad.mit.edu	37	2	228401685	228401685	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:228401685C>T	uc002vpc.2	+	9	1604	c.1354C>T	c.(1354-1356)Cag>Tag	p.Q452*	AGFG1_uc002vpd.2_Nonsense_Mutation_p.Q476*|AGFG1_uc002vpe.2_Nonsense_Mutation_p.Q452*|AGFG1_uc002vpf.2_Nonsense_Mutation_p.Q412*	NM_004504	NP_004495	P52594	AGFG1_HUMAN	Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA.	452					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore	ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						AAACCCATTTCAGACCAATGC	0.393000														81			16		0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9077090	9077090	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:9077090G>A	uc002mkp.3	-	2	10560	c.10356C>T	c.(10354-10356)atC>atT	p.I3452I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3453	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						CTGTGGAGGTGATGTATAATG	0.483000														52			24		0	0	0.000375601	0	0
COL4A4	1286	broad.mit.edu	37	2	227919421	227919421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:227919421G>A	uc021vxr.1	-	29	2850	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S	COL4A4_uc021vxs.1_Missense_Mutation_p.P917S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	917	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTTTCTCCGGGAAAACCTGGG	0.512000														24			23		0	0	0.00047179	0	0
FLNB	2317	broad.mit.edu	37	3	58155360	58155360	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr3:58155360C>T	uc003djj.2	+	44	7626	c.7461C>T	c.(7459-7461)tcC>tcT	p.S2487S	FLNB_uc010hne.2_Silent_p.S2518S|FLNB_uc003djk.2_Silent_p.S2476S|FLNB_uc010hnf.2_Silent_p.S2463S|FLNB_uc003djl.2_Silent_p.S2307S|FLNB_uc003djm.2_Silent_p.S2294S|BC041347_uc003djn.3_Intron	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2487	Hinge 2 (By similarity).|Interaction with INPPL1.|Self-association site, tail (By similarity).			S -> C (in Ref. 11; AAA35505).	actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGACCTCATCCATCCTGGTGG	0.587000														73			57		0	0	0.000781405	0	0
ATP10D	57205	broad.mit.edu	37	4	47514627	47514627	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr4:47514627G>A	uc003gxk.1	+	1	234	c.70G>A	c.(70-72)Gat>Aat	p.D24N	ATP10D_uc003gxj.3_Missense_Mutation_p.D24N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	24					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CAGGGATGATGATTCAGGGCC	0.527000														68			11		0	0	0.000978159	0	0
ZNF711	7552	broad.mit.edu	37	X	84526007	84526007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrX:84526007G>A	uc004eeq.3	+	9	2483	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	ZNF711_uc004eep.3_Missense_Mutation_p.E487K|ZNF711_uc004eeo.3_Missense_Mutation_p.E487K|ZNF711_uc011mqy.1_Missense_Mutation_p.E86K	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	487					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TGAAACTGCAGAACAAGGACT	0.418000														3			6		0	0	0.00116845	0	0
COL3A1	1281	broad.mit.edu	37	2	189864605	189864605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:189864605G>A	uc002uqj.1	+	31	2384	c.2267G>A	c.(2266-2268)gGg>gAg	p.G756E		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	756	Triple-helical region.		G -> E (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.G756E(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTGTCCCAGGGAAAGATGGC	0.448000														22			4		0	0	0.000602214	0	0
SERPINB3	6317	broad.mit.edu	37	18	61309074	61309074	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:61309074C>T	uc002ljf.3	-	3	357	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	SERPINB3_uc002lje.3_Missense_Mutation_p.E91K|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	91					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTGTTGAATTCAGTCAGAAGC	0.383000														98			19		0	0	0.00188189	0	0
AK302694	0	broad.mit.edu	37	10	30998233	30998233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr10:30998233G>A	uc010qdx.1	+	7	1321	c.779G>A	c.(778-780)gGa>gAa	p.G260E						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		AAAGATCCCGGAAGTTTTAAC	0.468000														13			18		0	0	0.000958276	0	0
AXIN1	8312	broad.mit.edu	37	16	354394	354394	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:354394G>A	uc002cgp.2	-	4	1553	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.F388F	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	388	Interaction with GSK3B (By similarity).				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.E384fs*31(1)|p.?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTCCTCCGCGAACTTCTGAG	0.667000														32			11		0	0	0.00185496	0	0
FAM210A	125228	broad.mit.edu	37	18	13681927	13681927	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:13681927G>A	uc010dlh.3	-	2	582	c.150C>T	c.(148-150)ggC>ggT	p.G50G	FAM210A_uc010dlg.3_Silent_p.G50G|FAM210A_uc010dli.3_Silent_p.G50G|FAM210A_uc002ksj.4_Silent_p.G50G|FAM210A_uc010dlj.3_Intron	NM_001098801	NP_689565	Q96ND0	CR019_HUMAN	Homo sapiens family with sequence similarity 210, member A (FAM210A), transcript variant 1, mRNA.	50						integral to membrane											GTTTTTGAGGGCCTTGTACCA	0.453000														124			23		0	0	0.00188189	0	0
RASGRP1	10125	broad.mit.edu	37	15	38852056	38852056	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:38852056C>T	uc001zke.4	-	1	364	c.186G>A	c.(184-186)ctG>ctA	p.L62L	RASGRP1_uc001zkd.4_Silent_p.L62L	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	62	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGAGATCGTCCAGGCTGGCTC	0.498000														49			12		0	0	0.00185496	0	0
C7	730	broad.mit.edu	37	5	40981538	40981538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:40981538G>A	uc003jmh.3	+	17	2509	c.2395G>A	c.(2395-2397)Gaa>Aaa	p.E799K		NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	799	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GGAGTGCGAGGAAGAAGGGTT	0.522000														15			6		0	0	0.00116845	0	0
VWC2	375567	broad.mit.edu	37	7	49842315	49842315	+	Silent	SNP	A	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:49842315A>T	uc003tot.1	+	2	1261	c.705A>T	c.(703-705)ccA>ccT	p.P235P		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	235	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						AGGTGTCTCCATGCGAGAGGT	0.507000														115			50		0	0	0.000781405	0	0
ADNP2	22850	broad.mit.edu	37	18	77895150	77895150	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr18:77895150C>T	uc002lnw.3	+	3	2309	c.1854C>T	c.(1852-1854)gcC>gcT	p.A618A		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	618					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A618V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACACGCTGGCCCCCGTGTCTG	0.597000														43			13		0	0	0.00185496	0	0
ZFHX3	463	broad.mit.edu	37	16	72830437	72830437	+	Silent	SNP	T	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:72830437T>G	uc002fck.3	-	8	6817	c.6144A>C	c.(6142-6144)ccA>ccC	p.P2048P	ZFHX3_uc002fcl.3_Silent_p.P1134P	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2048	Poly-Pro.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGTGGGGGTGGAGGGGGTG	0.642000														69			8		0	0	0.000274275	0	0
IL23R	149233	broad.mit.edu	37	1	67721573	67721573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:67721573C>T	uc001ddo.3	+	9	1287	c.1202C>T	c.(1201-1203)cCt>cTt	p.P401L	IL23R_uc009waz.3_Missense_Mutation_p.P198L|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_5'UTR|IL23R_uc010opk.2_Intron|IL23R_uc010opl.2_Intron|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Missense_Mutation_p.P147L|IL23R_uc010opn.2_Missense_Mutation_p.P246L|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010opo.1_Missense_Mutation_p.P260L|IL23R_uc010opp.1_Non-coding_Transcript|IL23R_uc010opq.1_Missense_Mutation_p.P230L|IL23R_uc010opr.1_Non-coding_Transcript|IL23R_uc010oqh.2_Missense_Mutation_p.P42L|IL23R_uc010oqf.2_5'UTR|IL23R_uc010ops.2_Missense_Mutation_p.P198L|IL23R_uc010opt.2_Missense_Mutation_p.P42L|IL23R_uc010opu.2_Missense_Mutation_p.P97L|IL23R_uc010opv.2_Missense_Mutation_p.P159L|IL23R_uc010opw.2_Missense_Mutation_p.P36L|IL23R_uc010opx.2_Missense_Mutation_p.P42L|IL23R_uc010opy.2_Missense_Mutation_p.P168L|IL23R_uc010opz.2_Missense_Mutation_p.P42L|IL23R_uc010oqa.2_Missense_Mutation_p.P42L|IL23R_uc010oqb.2_Missense_Mutation_p.P230L|IL23R_uc010oqc.2_Missense_Mutation_p.P117L|IL23R_uc010oqd.2_Missense_Mutation_p.P36L|IL23R_uc010oqe.2_5'UTR|IL23R_uc010oqg.2_5'UTR|IL23R_uc001dds.3_Missense_Mutation_p.P146L|IL23R_uc001ddt.3_5'UTR	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	401					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GAAGATATTCCTAATATGAAA	0.333000														25			28		0	0	0.00127121	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785738	11785738	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:11785738G>A	uc010buu.1	-	8	1451	c.1389C>T	c.(1387-1389)tcC>tcT	p.S463S	TXNDC11_uc002dbg.1_Silent_p.S436S	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	463					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGTGGGTCCTGGAGAAGGAGT	0.622000														53			16		0	0	0.000566183	0	0
RYR1	6261	broad.mit.edu	37	19	39019618	39019618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:39019618G>A	uc002oit.3	+	75	11192	c.11062G>A	c.(11062-11064)Gaa>Aaa	p.E3688K	RYR1_uc002oiu.3_Missense_Mutation_p.E3683K|RYR1_uc002oiv.1_Missense_Mutation_p.E603K|RYR1_uc010xuf.1_Missense_Mutation_p.E608K	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3688					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)	ggaggaggaggaagaggtgga	0.607000														16			6		0	0	0.00116845	0	0
LOC100132247	0	broad.mit.edu	37	16	21854780	21854780	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr16:21854780G>A	uc002djr.3	-	5	654	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	LOC100132247_uc002djs.3_Non-coding_Transcript|LOC100132247_uc002djq.3_Missense_Mutation_p.R139C|LOC100132247_uc010vbn.1_Missense_Mutation_p.R158C	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		TTCCTCTTACGGATTTTAGCT	0.388000														145			23		0	0	0.00178596	0	0
GABRB2	2561	broad.mit.edu	37	5	160758087	160758087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:160758087C>T	uc003lys.1	-	8	1098	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	GABRB2_uc011deh.1_Missense_Mutation_p.E133K|GABRB2_uc003lyr.1_Missense_Mutation_p.E294K|GABRB2_uc003lyt.1_Missense_Mutation_p.E294K|GABRB2_uc021yhg.1_Missense_Mutation_p.E231K	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	294					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGGAGAGTTTCCCGGAGGTGG	0.433000														81			32		0	0	0.000409698	0	0
RBM7	10179	broad.mit.edu	37	11	114272447	114272447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:114272447C>T	uc001pow.3	+	1	134	c.124C>T	c.(124-126)Cca>Tca	p.P42S	C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.4_5'Flank|RBM7_uc001pov.3_Missense_Mutation_p.P42S|RBM7_uc001pox.3_5'UTR	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	42	RRM.				meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GGTGAAAATTCCAAAAGATAA	0.313000														17			7		0	0	0.000157383	0	0
MYPOP	339344	broad.mit.edu	37	19	46393958	46393958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:46393958G>A	uc002pdt.3	-	2	1210	c.1123C>T	c.(1123-1125)Ccg>Tcg	p.P375S		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	375	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GAGTCGTGCGGAGGGAGCGGG	0.647000														15			10		0	0	0.000442599	0	0
OR5L1	219437	broad.mit.edu	37	11	55579441	55579441	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:55579441C>T	uc001nhw.1	+	0	499	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTTAGGATCCCCTTCTATAG	0.448000														145			21		0	0	0.000295444	0	0
TTC31	64427	broad.mit.edu	37	2	74718708	74718709	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:74718708_74718709CC>TT	uc002slt.2	+	7	808_809	c.785_786CC>TT	c.(784-786)ccc>cTT	p.P262L	TTC31_uc002sls.2_Missense_Mutation_p.P191L|TTC31_uc002slu.2_Missense_Mutation_p.P118L	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	262							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AACCAGGAGCCCCAAGGCAGGG	0.589000														41			60		0	0	6.4e-05	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117666	117666	+	RNA	SNP	G	C	C			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrGL000205.1:117666G>C	uc002kgk.4	+	0		c.1044G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGCGAGTTCAGAGCGTGGAGC	0.612000														12			4		0	0	0.00024832	0	0
SLC2A12	154091	broad.mit.edu	37	6	134349725	134349725	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:134349725G>A	uc003qem.1	-	1	1409	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	413						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity	p.S413F(2)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCTGCTATGGGAAGAAATCCC	0.453000														39			27		0	0	0.000720815	0	0
LIMK2	3985	broad.mit.edu	37	22	31662019	31662019	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr22:31662019C>T	uc003akh.3	+	7	1087	c.942C>T	c.(940-942)tcC>tcT	p.S314S	LIMK2_uc003aki.3_Silent_p.S68S|LIMK2_uc003akj.3_Silent_p.S293S|LIMK2_uc003akk.3_Silent_p.S293S|LIMK2_uc011aln.2_Silent_p.S231S	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	314						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GCTCAGAATCCCTTCGTTGTT	0.577000														105			38		0	0	0.00111076	0	0
CR2	1380	broad.mit.edu	37	1	207640229	207640229	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:207640229G>A	uc001hfw.3	+	1	536	c.417G>A	c.(415-417)ggG>ggA	p.G139G	CR2_uc001hfv.3_Silent_p.G139G|CR2_uc009xch.3_Silent_p.G139G	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	139	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATATGTGGGGGCCGACACGAC	0.473000														58			23		0	0	0.00127121	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887453	12887453	+	Missense_Mutation	SNP	C	T	T	rs2486714	by1000genomes	TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:12887453C>T	uc001auk.2	-	2	600	c.404G>A	c.(403-405)aGa>aAa	p.R135K		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	135										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TAGTAAATCTCTCCTCTGCTT	0.463000														82			6		0	0	0.000442599	0	0
MICAL2	9645	broad.mit.edu	37	11	12231069	12231070	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:12231069_12231070CC>TT	uc001mjz.3	+	5	903_904	c.615_616CC>TT	c.(613-618)ctccct>ctTTct	p.P206S	MICAL2_uc010rch.1_Missense_Mutation_p.P206S|MICAL2_uc001mka.3_Missense_Mutation_p.P206S|MICAL2_uc010rci.2_Missense_Mutation_p.P206S|MICAL2_uc001mkb.3_Missense_Mutation_p.P206S|MICAL2_uc001mkc.3_Missense_Mutation_p.P206S|MICAL2_uc001mkd.3_Missense_Mutation_p.P35S	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	206						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGAATTTCTCCCTACAGACCA	0.520000														80			57		0	0	6.4e-05	0	0
ZNF735	730291	broad.mit.edu	37	7	63679742	63679742	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:63679742G>A	uc011kdn.2	+	3	313	c.313G>A	c.(313-315)Gat>Aat	p.D105N		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GAGCATAAAAGATTCACTCCA	0.338000														111			24		0	0	0.000720815	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589663	140589663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr5:140589663C>T	uc003liz.3	+	0	1373	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PCDHB12_uc011dak.2_Missense_Mutation_p.S58F	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	395	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTAAAATCTTCGGTAAAT	0.488000														30			9		0	0	0.000673444	0	0
TFCP2	7024	broad.mit.edu	37	12	51492621	51492621	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:51492621A>G	uc001rxw.3	-	12	2078	c.1357T>C	c.(1357-1359)Tgc>Cgc	p.C453R	TFCP2_uc001rxv.2_Missense_Mutation_p.C453R|TFCP2_uc009zlx.2_Missense_Mutation_p.C402R|TFCP2_uc009zly.1_Missense_Mutation_p.C355R	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	453					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CTGATCTGGCAAGGGGAAATG	0.408000														46			21		0	0	0.000375601	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000														38			17		0	0	0.000878237	0	0
CYP2A13	1553	broad.mit.edu	37	19	41600879	41600879	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:41600879C>T	uc002opt.3	+	7	1186	c.1177C>T	c.(1177-1179)Cct>Tct	p.P393S		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	393					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.P393L(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TGAAGTGTTCCCTATGCTGGG	0.572000														79			36		0	0	0.00111076	0	0
ADAM28	10863	broad.mit.edu	37	8	24208805	24208805	+	Silent	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:24208805G>A	uc003xdy.3	+	19	2243	c.2160G>A	c.(2158-2160)aaG>aaA	p.K720K	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.K407K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	720					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)		AGATGGTAAAGGCTGTTCAAC	0.468000														72			35		0	0	0.00148497	0	0
EMID2	136227	broad.mit.edu	37	7	101063375	101063375	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr7:101063375C>T	uc010lhy.1	+	1	468	c.276C>T	c.(274-276)ctC>ctT	p.L92L	EMID2_uc003uyo.1_Silent_p.L92L	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	92	EMI.					collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					GCGCCAACCTCGTAAGGTAAA	0.657000														38			21		0	0	0.00152264	0	0
RNF17	56163	broad.mit.edu	37	13	25448326	25448326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:25448326C>T	uc001upr.3	+	32	4563	c.4522C>T	c.(4522-4524)Cct>Tct	p.P1508S	RNF17_uc010tde.2_Missense_Mutation_p.P1504S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P1447S|RNF17_uc010aac.3_Missense_Mutation_p.P700S|RNF17_uc010aad.3_Missense_Mutation_p.P518S	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1508	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AGAATTTAATCCTTTATCTAT	0.328000														45			29		0	0	0.00127121	0	0
PHF3	23469	broad.mit.edu	37	6	64408495	64408495	+	Splice_Site	SNP	T	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr6:64408495T>A	uc003pep.1	+	7	3007	c.2982_splice	c.e7+1	p.N994_splice	PHF3_uc010kah.1_Splice_Site_p.N808_splice|PHF3_uc003pen.2_Splice_Site_p.N906_splice|PHF3_uc011dxs.1_Splice_Site_p.N263_splice	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	994	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTAAAAACAATGTAAGTATGC	0.289000														37			11		0	0	0.000978159	0	0
GPR112	139378	broad.mit.edu	37	X	135426719	135426719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chrX:135426719C>T	uc004ezu.1	+	5	1145	c.854C>T	c.(853-855)tCa>tTa	p.S285L	GPR112_uc010nsb.1_Missense_Mutation_p.S80L|GPR112_uc010nsc.1_Missense_Mutation_p.S52L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	285					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACAACCATATCATATTCCAAT	0.368000														26			22		0	0	0.000295444	0	0
PHF20	51230	broad.mit.edu	37	20	34505530	34505530	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr20:34505530C>T	uc002xek.1	+	12	2061	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCTATGACTTCGAGGTGGTCC	0.502000														49			27		0	0	0.000878237	0	0
SLC26A7	115111	broad.mit.edu	37	8	92330577	92330577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:92330577C>T	uc003yez.3	+	4	850	c.611C>T	c.(610-612)cCa>cTa	p.P204L	SLC26A7_uc003yex.3_Missense_Mutation_p.P204L|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.P204L	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	204						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ATGAAAATGCCATATATATCC	0.398000														105			31		0	0	0.00058488	0	0
IL36RN	26525	broad.mit.edu	37	2	113820044	113820044	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr2:113820044G>T	uc002tis.3	+	4	391	c.258G>T	c.(256-258)atG>atT	p.M86I	IL36RN_uc002tit.3_Missense_Mutation_p.M86I	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	86						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGAACATCATGGAGCTCTATC	0.627000														40			4		0.00116845	0.00710166	0.00116845	1	0
MFSD12	126321	broad.mit.edu	37	19	3544870	3544870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr19:3544870C>T	uc002lxw.3	-	8	1527	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	MFSD12_uc002lxx.3_Missense_Mutation_p.V453M|MFSD12_uc002lxy.3_Missense_Mutation_p.V444M|MFSD12_uc002lxz.3_Missense_Mutation_p.V453M	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	453					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GCCACGCCCACGCCGCCCGTC	0.687000											OREG0025153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			10		0	0	0.000673444	0	0
PIGL	9487	broad.mit.edu	37	17	16120579	16120579	+	Silent	SNP	C	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr17:16120579C>G	uc002gpv.3	+	0	71	c.39C>G	c.(37-39)gtC>gtG	p.V13V	NCOR1_uc002gpo.3_5'Flank|PIGL_uc010vwd.2_Silent_p.V13V|NCOR1_uc002gps.2_5'Flank|NCOR1_uc010cpb.2_5'Flank|NCOR1_uc010coz.2_5'Flank|NCOR1_uc010cpa.2_5'Flank|NCOR1_uc002gpu.3_5'Flank	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class L (PIGL), mRNA.	13					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity	p.V13A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		CGTTGGCGGTCTTGGCATGGG	0.612000														59			17		0	0	0.00121646	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192555	133192555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:133192555G>A	uc003ytj.3	-	3	851	c.626C>T	c.(625-627)tCt>tTt	p.S209F	KCNQ3_uc003yti.3_Missense_Mutation_p.S89F|KCNQ3_uc010mdt.3_Missense_Mutation_p.S209F	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	209					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CACTGGCACAGAGGCAATCAG	0.572000														82			29		0	0	0.00106085	0	0
MYCBP2	23077	broad.mit.edu	37	13	77862354	77862355	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr13:77862354_77862355CC>AA	uc021rks.1	-	2	802_803	c.535_536GG>TT	c.(535-537)gga>TTa	p.G179L	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATCTGATTCTCCACTCTGCACA	0.411000														240			8		0	0	6.4e-05	0	0
C11orf9	745	broad.mit.edu	37	11	61543557	61543557	+	Silent	SNP	C	T	T			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr11:61543557C>T	uc001nsc.1	+	8	1437	c.1341C>T	c.(1339-1341)atC>atT	p.I447I	C11orf9_uc001nse.1_Silent_p.I438I|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	447					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CCATTAACATCGAGCAGTCCC	0.622000														29			12		0	0	0.00185496	0	0
CDK17	5128	broad.mit.edu	37	12	96691070	96691070	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:96691070A>G	uc001tep.2	-	8	1483	c.851T>C	c.(850-852)aTc>aCc	p.I284T	CDK17_uc009ztk.3_Missense_Mutation_p.I284T|CDK17_uc010svb.2_Missense_Mutation_p.I231T	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	284	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						CATACTCATGATGTTTCCACA	0.363000														24			6		0	0	8.12818e-05	0	0
RYR2	6262	broad.mit.edu	37	1	237872838	237872839	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr1:237872838_237872839insA	uc001hyl.1	+	69	10321_10322	c.10201_10202insA	c.(10201-10203)gaafs	p.E3401fs	RYR2_uc010pxz.1_Frame_Shift_Ins_p.E356fs	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3401					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATGGTGGCTGAAGTGTTTATC	0.455													---	15	---	---	13	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	-	-	rs142343457	byFrequency	TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr8:28209226_28209228delGCA	uc003xgq.3	-	6	1105_1107	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_uc003xgt.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgr.3_In_Frame_Del_p.339_340AA>A|ZNF395_uc003xgs.3_In_Frame_Del_p.339_340AA>A	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													---	156	---	---	8	---					
OR6C3	254786	broad.mit.edu	37	12	55726010	55726011	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr12:55726010_55726011delTG	uc010spj.2	+	0	526_527	c.526_527delTG	c.(526-528)tgtfs	p.C176fs		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCACTTTGCATGTGACTATTTT	0.436													---	323	---	---	10	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	4	---	---	2	---					
AQR	9716	broad.mit.edu	37	15	35233143	35233143	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A17Y-06A-11D-A196-08	TCGA-EE-A17Y-10B-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82b28667-3205-4d4b-8c3e-2bde4ccbd2f6	70f95dbd-6497-4bb0-a27f-4676281532d1	g.chr15:35233143delT	uc001ziv.3	-	7	779	c.598delA	c.(598-600)attfs	p.I200fs		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	200						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTCTTTTTAATCAAGTTCCAG	0.358													---	147	---	---	58	---					
