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
KLHL36	79786	broad.mit.edu	37	16	84695527	84695527	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:84695527C>T	uc002fig.3	+	4	1780	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	KLHL36_uc010chl.3_Missense_Mutation_p.R483C|AK057887_uc002fih.3_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	547										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTGGGAGGGCCGCATCTACAT	0.682000														6			5		0	0	1.23904e-05	0	0
HECW2	57520	broad.mit.edu	37	2	197208396	197208396	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:197208396G>A	uc002utm.1	-	2	568	c.385C>T	c.(385-387)Ccc>Tcc	p.P129S	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	129					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGAAATAGGGCCCAGGCTCA	0.363000														116			94		0	0	0.000147903	0	0
ITK	3702	broad.mit.edu	37	5	156670656	156670656	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:156670656G>A	uc003lwo.1	+	11	1166	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	362					T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGACCCCTCAGAGCTCACTTT	0.498000			T	SYK	peripheral T-cell lymphoma									167			108		0	0	0.000147903	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515278	140515278	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140515278G>A	uc003liq.3	+	0	479	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	88	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTATATGAAAAACTAGA	0.473000														46			33		0	0	0.000409698	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959833	157959833	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:157959833C>T	uc003wno.3	-	5	821	c.700G>A	c.(700-702)Gac>Aac	p.D234N	PTPRN2_uc003wnp.3_Missense_Mutation_p.D217N|PTPRN2_uc003wnq.3_Missense_Mutation_p.D234N|PTPRN2_uc003wnr.3_Missense_Mutation_p.D196N|PTPRN2_uc011kwa.2_Missense_Mutation_p.D257N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	234						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACACCACTGTCCACCTTAGGG	0.692000														10			26		0	0	0.000184323	0	0
DNAH2	146754	broad.mit.edu	37	17	7679380	7679380	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:7679380C>T	uc002giu.1	+	29	4874	c.4860C>T	c.(4858-4860)acC>acT	p.T1620T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1620	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGAGGGTGACCCTGCGGGACC	0.632000														26			21		0	0	0.000295444	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419668	56419668	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:56419668C>T	uc002rzn.3	+	1	835	c.333C>T	c.(331-333)ttC>ttT	p.F111F	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	111										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTGCTGTTTCCTGGATGATG	0.527000														33			22		0	0	0.000375601	0	0
MYLK	4638	broad.mit.edu	37	3	123457789	123457789	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:123457789G>A	uc003ego.3	-	6	825	c.543C>T	c.(541-543)tcC>tcT	p.S181S	MYLK_uc011bjw.2_Silent_p.S181S|MYLK_uc003egp.3_Silent_p.S181S|MYLK_uc003egq.3_Silent_p.S181S|MYLK_uc003egr.3_Silent_p.S181S|MYLK_uc003egs.3_Silent_p.S5S|MYLK_uc010hrs.1_Silent_p.S181S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	181	Ig-like C2-type 2.				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)		TGATCTTGCAGGAGAATCGTC	0.572000														11			9		0	0	0.000274275	0	0
OR2W3	343171	broad.mit.edu	37	1	248059074	248059074	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:248059074C>T	uc010pzb.2	+	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F	OR2W3_uc001idp.1_Silent_p.F62F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTACTTCTTCCTCGCCCACC	0.572000														61			36		0	0	0.000191422	0	0
SDK1	221935	broad.mit.edu	37	7	4213962	4213962	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:4213962C>T	uc003smx.3	+	32	5048	c.4909C>T	c.(4909-4911)Cct>Tct	p.P1637S	SDK1_uc010kso.3_Missense_Mutation_p.P913S|SDK1_uc003smy.3_Missense_Mutation_p.P124S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1637	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCTCAAAAACCCTATAGCTTT	0.552000														85			23		0	0	0.000586117	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	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					36			53		0	0	0.000147903	0	0
TXN2	25828	broad.mit.edu	37	22	36876791	36876791	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:36876791G>A	uc003apk.1	-	1	171	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	TXN2_uc003apl.1_Non-coding_Transcript	NM_012473	NP_036605	Q99757	THIOM_HUMAN	Homo sapiens thioredoxin 2 (TXN2), nuclear gene encoding mitochondrial protein, mRNA.	32					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						GGGGTCTGCAGGGCTCTGGAA	0.562000														36			24		0	0	0.000117367	0	0
PSG3	5671	broad.mit.edu	37	19	43237057	43237057	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:43237057G>A	uc002oue.3	-	2	720	c.588C>T	c.(586-588)tcC>tcT	p.S196S	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	196	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.S196S(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTTTGTTTTTGGACAACTGCA	0.507000														132			83		0	0	0.000147903	0	0
UBR1	197131	broad.mit.edu	37	15	43340622	43340622	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:43340622G>A	uc001zqq.3	-	12	1573	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	UBR1_uc010udk.1_Nonsense_Mutation_p.R503*	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	503					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.R503Q(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAAAAGATCGAAAACCTTCA	0.303000														29			21		0	0	0.000295444	0	0
NLRP5	126206	broad.mit.edu	37	19	56539052	56539052	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:56539052G>A	uc002qmj.3	+	6	1453	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	NLRP5_uc002qmi.3_Missense_Mutation_p.D466N	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	485	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCAGCTGCAGGACGTGGTGGG	0.647000														27			7		0	0	8.12818e-05	0	0
EXOC6B	23233	broad.mit.edu	37	2	72802710	72802710	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:72802710T>A	uc010fep.3	-	6	895	c.757A>T	c.(757-759)Atc>Ttc	p.I253F	EXOC6B_uc002sij.2_Missense_Mutation_p.I253F	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	253					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTATCAAAGATTATATATGCA	0.398000														52			38		0	0	0.000159656	0	0
WDR72	256764	broad.mit.edu	37	15	53889401	53889401	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:53889401G>A	uc002acj.2	-	17	3065	c.3023C>T	c.(3022-3024)cCc>cTc	p.P1008L		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	1008								p.I1007M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACTATTGACGGGTATCTTTCC	0.408000														97			57		0	0	0.000147903	0	0
PTCHD3	374308	broad.mit.edu	37	10	27687789	27687789	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr10:27687789C>T	uc001itu.2	-	3	1856	c.1738G>A	c.(1738-1740)Gat>Aat	p.D580N		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	580					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGATGGATATCAGTTCCATGT	0.383000														7			21		0	0	0.000229342	0	0
TTN	7273	broad.mit.edu	37	2	179485585	179485585	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:179485585G>A	uc021vsy.1	-	195	38273	c.38048C>T	c.(38047-38049)tCa>tTa	p.S12683L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S6378L|TTN_uc021vta.1_Missense_Mutation_p.S6311L|TTN_uc021vtb.1_Missense_Mutation_p.S6186L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13610							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)			GATGTATTTTGAACTATCAAA	0.393000														66			62		0	0	0.000147903	0	0
MAN2A2	4122	broad.mit.edu	37	15	91462873	91462874	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:91462873_91462874GG>TT	uc010bnz.2	+	22	3424_3425	c.3309_3310GG>TT	c.(3307-3312)ctgggc>ctTTgc	p.G1104C	MAN2A2_uc002bqc.3_Missense_Mutation_p.G1104C|MAN2A2_uc010uql.2_Missense_Mutation_p.G766C|MAN2A2_uc010uqm.2_Missense_Mutation_p.G683C|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	1104					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGGTAGCCCTGGGCAGCCTTTT	0.520000														326			9		0	0	6.4e-05	0	0
STAB2	55576	broad.mit.edu	37	12	104078786	104078786	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:104078786C>T	uc001tjw.3	+	26	3107	c.2921C>T	c.(2920-2922)tCg>tTg	p.S974L		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	974	EGF-like 10.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAATCTACTTCGTCTGGTGTC	0.453000														106			71		0	0	0.000147903	0	0
C6	729	broad.mit.edu	37	5	41160404	41160404	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:41160404C>T	uc003jmk.2	-	10	1734	c.1524G>A	c.(1522-1524)agG>agA	p.R508R	C6_uc003jml.1_Silent_p.R508R	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	508	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R508S(2)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCAAAGCTTTCCTGAGGTTGT	0.522000														54			30		0	0	0.000339439	0	0
ZHX3	23051	broad.mit.edu	37	20	39831821	39831821	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr20:39831821G>A	uc010ggg.1	-	0	1886	c.1736C>T	c.(1735-1737)tCg>tTg	p.S579L	ZHX3_uc002xjr.1_Missense_Mutation_p.S579L|ZHX3_uc002xjs.1_Missense_Mutation_p.S579L|ZHX3_uc002xjt.1_Missense_Mutation_p.S579L|ZHX3_uc002xju.1_Missense_Mutation_p.S579L|ZHX3_uc002xjv.1_Missense_Mutation_p.S579L|ZHX3_uc002xjw.1_Missense_Mutation_p.S579L	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	579					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GACCTTGGACGATGGGGAGAA	0.532000														75			44		0	0	0.000147903	0	0
F13A1	2162	broad.mit.edu	37	6	6224981	6224982	+	Missense_Mutation	DNP	CG	AT	AT	rs139164988		TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:6224981_6224982CG>AT	uc003mwv.3	-	6	1033_1034	c.910_911CG>AT	c.(910-912)cgg>ATg	p.R304M	F13A1_uc011dib.2_Missense_Mutation_p.R241M	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	304					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTCAGAGCTCCGGTATTCCAAT	0.460000														132			6		0	0	6.4e-05	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269283	150269283	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:150269283G>A	uc003whl.3	+	2	207	c.125G>A	c.(124-126)gGa>gAa	p.G42E	GIMAP4_uc011kuu.2_5'UTR|GIMAP4_uc011kuv.2_Missense_Mutation_p.G56E	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	42							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCGGAGCAGGAAAAAGTGCA	0.463000														49			11		0	0	0.000151284	0	0
UNC13C	440279	broad.mit.edu	37	15	54305180	54305180	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:54305180G>A	uc021smr.1	+	0	80	c.80G>A	c.(79-81)gGa>gAa	p.G27E	UNC13C_uc021sms.1_Missense_Mutation_p.G27E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	27					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGAAATTGGGAAATACAAAC	0.368000														46			32		0	0	0.000109025	0	0
PLA2G3	50487	broad.mit.edu	37	22	31533863	31533864	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:31533863_31533864GG>AA	uc003aka.3	-	3	1027_1028	c.898_899CC>TT	c.(898-900)ccc>TTc	p.P300F		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	300					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCGAGGCTTGGGAGGGGCTGGG	0.658000														61			35		0	0	6.4e-05	0	0
FAM86C1	55199	broad.mit.edu	37	8	8092007	8092007	+	RNA	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:8092007C>T	uc011kwt.2	+	3		c.375C>T			FAM86C1_uc010lrq.2_Intron|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						GCCCCCAGCACGAGGCTGTCC	0.547000														23			10		0	0	3.86212e-05	0	0
MAGEE1	57692	broad.mit.edu	37	X	75651013	75651013	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:75651013A>G	uc004ecm.2	+	0	2968	c.2690A>G	c.(2689-2691)tAt>tGt	p.Y897C		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	897	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCAGTGCAATATGAGTTTGTA	0.478000														4			19		0	0	0.000295444	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444060	5444060	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:5444060C>T	uc010qzd.2	+	0	720	c.630C>T	c.(628-630)atC>atT	p.I210I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTATTATCGTGGATCCTC	0.502000														70			48		0	0	0.000147903	0	0
DSP	1832	broad.mit.edu	37	6	7583574	7583574	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:7583574G>A	uc003mxp.1	+	23	6358	c.6079G>A	c.(6079-6081)Gaa>Aaa	p.E2027K	DSP_uc003mxq.1_Missense_Mutation_p.E1428K|DSP_uc021yle.1_Missense_Mutation_p.E1584K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2027	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTCTCCTAAGGAAAAATACTC	0.468000														33			44		0	0	0.000589545	0	0
ASPM	259266	broad.mit.edu	37	1	197097757	197097757	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:197097757G>A	uc001gtu.3	-	9	3056	c.2799C>T	c.(2797-2799)ttC>ttT	p.F933F	ASPM_uc001gtv.3_Silent_p.F933F|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	933	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CACCACTTAGGAAATCTCGTG	0.333000														18			14		0	0	0.000422831	0	0
PTCH2	8643	broad.mit.edu	37	1	45292179	45292179	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:45292179G>A	uc010olf.2	-	17	2969	c.2957C>T	c.(2956-2958)cCc>cTc	p.P986L	PTCH2_uc021omv.1_Missense_Mutation_p.P986L|PTCH2_uc010olg.2_Missense_Mutation_p.P684L	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	986					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					AGCCGTCCAGGGGTTGAGGAG	0.632000									Basal Cell Nevus syndrome					10			7		0	0	8.12818e-05	0	0
ACSBG2	81616	broad.mit.edu	37	19	6185474	6185474	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:6185474G>A	uc002mef.1	+	10	1577	c.1350G>A	c.(1348-1350)aaG>aaA	p.K450K	ACSBG2_uc002mee.1_Silent_p.K263K|ACSBG2_uc002meg.1_Silent_p.K450K|ACSBG2_uc002meh.1_Silent_p.K450K|ACSBG2_uc002mei.1_Silent_p.K400K|ACSBG2_uc010xiz.1_Silent_p.K450K	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	450					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGGTGTAAGAATATGCTGT	0.517000														112			78		0	0	0.000147903	0	0
CHD1	1105	broad.mit.edu	37	5	98229193	98229193	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:98229193G>A	uc003knf.3	-	12	2066	c.1918C>T	c.(1918-1920)Ctt>Ttt	p.L640F		NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	640	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCAGTGATAAGGAGACGATGA	0.343000														83			55		0	0	0.000147903	0	0
ABCA9	10350	broad.mit.edu	37	17	66981056	66981056	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:66981056C>T	uc002jhu.3	-	33	4492	c.4349G>A	c.(4348-4350)gGg>gAg	p.G1450E	ABCA9_uc010dez.3_Missense_Mutation_p.G1412E	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1450	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGGGTCCATCCCGGTCGACGG	0.557000														22			11		0	0	0.000219431	0	0
AAMP	14	broad.mit.edu	37	2	219131205	219131205	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:219131205G>A	uc002vhl.3	-	4	727	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	AAMP_uc002vhk.3_Missense_Mutation_p.P214S	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	214					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCAGTTGGGACCCTGGAAG	0.612000														10			8		0	0	0.000157383	0	0
OR4C15	81309	broad.mit.edu	37	11	55321940	55321940	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:55321940G>A	uc010rig.2	+	0	158	c.158G>A	c.(157-159)gGa>gAa	p.G53E		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTTTCCTTGGGAAACATGCAA	0.358000										HNSCC(20;0.049)				83			54		0	0	0.000147903	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576831	158576831	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:158576831C>T	uc010pio.2	+	0	603	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F200I(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GGATCTTTATCCTCAGTCTTT	0.522000														67			43		0	0	0.000147903	0	0
ABI3BP	25890	broad.mit.edu	37	3	100527030	100527030	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:100527030G>A	uc003dun.3	-	18	1732	c.1647C>T	c.(1645-1647)cgC>cgT	p.R549R	ABI3BP_uc003duj.3_Silent_p.R104R|ABI3BP_uc003duk.3_Silent_p.R233R|ABI3BP_uc003dul.3_Silent_p.R354R|ABI3BP_uc011bhd.2_Silent_p.R503R|ABI3BP_uc003dum.3_5'UTR	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	549	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGATTCTTGGGCGTGGTGATG	0.393000														24			11		0	0	0.000308642	0	0
CSPG5	10675	broad.mit.edu	37	3	47618383	47618384	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:47618383_47618384GG>TT	uc003crp.4	-	1	1308_1309	c.1132_1133CC>AA	c.(1132-1134)cca>AAa	p.P378K	CSPG5_uc003crn.3_Missense_Mutation_p.P240K|CSPG5_uc003cro.4_Missense_Mutation_p.P378K|CSPG5_uc021wxh.1_Missense_Mutation_p.P378K|CSPG5_uc021wxi.1_Missense_Mutation_p.P240K|CSPG5_uc011bbb.2_Missense_Mutation_p.P240K	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	378	EGF-like.				cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity	p.P378Q(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACAGTAACTTGGGAAGAGGTCG	0.589000														166			7		0	0	6.4e-05	0	0
HSD17B1	3292	broad.mit.edu	37	17	40705284	40705284	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:40705284G>A	uc002hzw.3	+	1	1208	c.240G>A	c.(238-240)gtG>gtA	p.V80V	HSD17B1_uc010wgm.2_Non-coding_Transcript|BC043620_uc002hzy.3_Silent_p.V99V|HSD17B1_uc010cyi.3_Silent_p.V111V	NM_000413	NP_000404	P14061	DHB1_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 1 (HSD17B1), mRNA.	80					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GGGAACGCGTGACTGAGGGCC	0.667000														23			13		0	0	0.000566183	0	0
ZNF620	253639	broad.mit.edu	37	3	40553021	40553021	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:40553021G>A	uc003ckk.3	+	2	234	c.85G>A	c.(85-87)Gac>Aac	p.D29N	ZNF620_uc003ckl.3_Intron	NM_175888	NP_787084	Q6ZNG0	ZN620_HUMAN	Homo sapiens zinc finger protein 620 (ZNF620), transcript variant 1, mRNA.	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GGCCAGCCTGGACTCTGTGCA	0.507000														47			32		0	0	0.00058488	0	0
MYH1	4619	broad.mit.edu	37	17	10408747	10408747	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:10408747G>A	uc002gmo.3	-	19	2350	c.2256C>T	c.(2254-2256)tcC>tcT	p.S752S	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	752	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CAATGTCAATGGACCCCAGGA	0.403000														41			31		0	0	0.000279167	0	0
SCN5A	6331	broad.mit.edu	37	3	38592525	38592525	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:38592525C>T	uc021wvo.1	-	26	5390	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K	SCN5A_uc021wvk.1_Missense_Mutation_p.E1747K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1726K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1762K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1779K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1780K|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.E1592K|SCN5A_uc021wvi.1_Missense_Mutation_p.E1646K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1780					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGCTCTCCTCCGTGGCCACG	0.507000														39			22		0	0	0.000175454	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566767	20566767	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:20566767C>T	uc002dhj.4	-	4	630	c.420G>A	c.(418-420)atG>atA	p.M140I	ACSM2B_uc002dhk.4_Missense_Mutation_p.M140I|ACSM2B_uc010bwf.1_Missense_Mutation_p.M140I	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	140					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGTGGATTTCATCTGGATGG	0.428000														50			26		0	0	0.000339439	0	0
HYDIN	54768	broad.mit.edu	37	16	70843823	70843823	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:70843823G>A	uc002ezr.3	-	84	14894	c.14743C>T	c.(14743-14745)Caa>Taa	p.Q4915*	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4916								p.Y4914>?(1)|p.Y4866>?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGCTCATATTGGTAGTAACCC	0.468000														280			152		0	0	0.000147903	0	0
FMN2	56776	broad.mit.edu	37	1	240371717	240371717	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:240371717C>T	uc010pye.2	+	5	3842	c.3617C>T	c.(3616-3618)cCt>cTt	p.P1206L	FMN2_uc010pyd.2_Missense_Mutation_p.P1202L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1202	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCCTCTACCTGGTGCTGGG	0.672000														3			3		0	0	0.00024832	0	0
SERPINB3	6317	broad.mit.edu	37	18	61322895	61322896	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr18:61322895_61322896GG>TT	uc002lji.3	-	7	1312_1313	c.1168_1169CC>AA	c.(1168-1170)ccg>AAg	p.P390K	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.P338K	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	390					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.P390Q(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTGCATCTACGGGGATGAGAAT	0.396000														121			7		0	0	6.4e-05	0	0
IL36A	27179	broad.mit.edu	37	2	113763452	113763452	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:113763452G>A	uc010yxr.2	+	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_014440	NP_055255	Q9UHA7	IL36A_HUMAN	Homo sapiens interleukin 36, alpha (IL36A), mRNA.	2					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CACCACAATGGAAAAAGGTAA	0.443000														28			15		0	0	7.07596e-05	0	0
TREM1	54210	broad.mit.edu	37	6	41254361	41254361	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:41254361C>T	uc003oqf.2	-	0	97	c.33G>A	c.(31-33)tgG>tgA	p.W11*	TREM1_uc003oqg.2_Nonsense_Mutation_p.W11*|TREM1_uc021yzj.1_Nonsense_Mutation_p.W11*	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	11					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	CAAAGAGCATCCACAGCAGCC	0.577000														49			12		0	0	0.000151284	0	0
DDX60	55601	broad.mit.edu	37	4	169227844	169227844	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:169227844G>A	uc003irp.3	-	4	584	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	98							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGAAGTTCAGGGAAGTTGAAA	0.353000														29			24		0	0	9.22233e-05	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604424	160604425	+	Nonsense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:160604424_160604425CG>AT	uc001fwl.4	-	2	1024_1025	c.678_679CG>AT	c.(676-681)cccgga>ccATga	p.G227*	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	227					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	p.P226P(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GTCCTGCATCCGGGCCACGGGC	0.579000														66			5		0	0	6.4e-05	0	0
ODZ1	10178	broad.mit.edu	37	X	123518420	123518420	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:123518420C>T	uc010nqy.3	-	29	6425	c.6361G>A	c.(6361-6363)Gaa>Aaa	p.E2121K	ODZ1_uc011muj.2_Missense_Mutation_p.E2120K|ODZ1_uc004euj.3_Missense_Mutation_p.E2114K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2114					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.I2121N(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTTAGGATTTCATATTGGACT	0.373000														12			50		0	0	0.000147903	0	0
LINGO2	158038	broad.mit.edu	37	9	27950117	27950117	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr9:27950117C>T	uc003zqv.1	-	6	1203	c.553G>A	c.(553-555)Gag>Aag	p.E185K	LINGO2_uc010mjf.1_Missense_Mutation_p.E185K|LINGO2_uc003zqu.1_Missense_Mutation_p.E185K|LINGO2_uc022bfc.1_Missense_Mutation_p.E185K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	185						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTGCATTTCTCCAGGGTGAGC	0.473000														13			18		0	0	7.07596e-05	0	0
CYP17A1	1586	broad.mit.edu	37	10	104594763	104594763	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr10:104594763C>T	uc001kwg.3	-	2	617	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	149					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GTACTGATTTCCTGACAAACT	0.517000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			17		0	0	0.000566183	0	0
OR51A7	119687	broad.mit.edu	37	11	4929452	4929452	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:4929452C>T	uc010qyq.2	+	0	853	c.853C>T	c.(853-855)Ctt>Ttt	p.L285F		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P284L(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGCCGCCCCTTATGAACCC	0.453000														70			42		0	0	0.000270559	0	0
OR8B2	26595	broad.mit.edu	37	11	124253109	124253109	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:124253109C>T	uc010sai.2	-	0	131	c.131G>A	c.(130-132)gGc>gAc	p.G44D	OR8B2_uc001qab.3_Non-coding_Transcript	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 2 (OR8B2), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGTGATCAAGCCAAGGTTGCC	0.418000														58			45		0	0	0.000147903	0	0
OR2L2	26246	broad.mit.edu	37	1	248202216	248202216	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:248202216C>T	uc001idw.3	+	0	743	c.647C>T	c.(646-648)tCc>tTc	p.S216F	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATTGCATGTTCCTATGGCCGG	0.507000														85			44		0	0	0.000589545	0	0
OR51B5	282763	broad.mit.edu	37	11	5364611	5364611	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:5364611C>T	uc001map.1	-	0	144	c.144G>A	c.(142-144)aaG>aaA	p.K48K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.K48K	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGATCTTCCTTAATGAGAA	0.498000														38			27		0	0	0.000227799	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140865726	140865726	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140865726C>T	uc003lky.2	+	0	986	c.986C>T	c.(985-987)gCc>gTc	p.A329V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc011dbb.2_Missense_Mutation_p.A329V	NM_018928	NP_061751	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 4 (PCDHGC4), transcript variant 1, mRNA.	329	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTCTCCAGCCATGGAGCAA	0.522000														30			9		0	0	0.000274275	0	0
KRT78	196374	broad.mit.edu	37	12	53233687	53233687	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:53233687C>T	uc001sbc.1	-	6	1193	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	377	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCTCCAGCTCGTCCACCTTG	0.627000														9			10		0	0	0.000442599	0	0
HRNR	388697	broad.mit.edu	37	1	152192762	152192762	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:152192762C>T	uc001ezt.1	-	2	1419	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	448					keratinization		calcium ion binding|protein binding	p.R448Q(2)|p.R448*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGATCGACCAAAGCC	0.582000														42			23		0	0	0.00047179	0	0
KCNH6	81033	broad.mit.edu	37	17	61611442	61611442	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:61611442G>T	uc002jay.3	+	4	951	c.871G>T	c.(871-873)Ggg>Tgg	p.G291W	KCNH6_uc002jax.1_Missense_Mutation_p.G291W|KCNH6_uc010wpl.2_Missense_Mutation_p.G168W|KCNH6_uc010wpm.2_Missense_Mutation_p.G291W|KCNH6_uc002jaz.1_Missense_Mutation_p.G291W	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	291					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	ATCACGGCGTGGGGCCTGCAG	0.582000														45			5		3.07112e-06	5.90386e-05	6.40141e-05	1	0
LEFTY1	10637	broad.mit.edu	37	1	226074761	226074761	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:226074761G>A	uc001hpo.3	-	3	847	c.767C>T	c.(766-768)cCa>cTa	p.P256L	PYCR2_uc010pvj.2_3'UTR	NM_020997	NP_066277	O75610	LFTY1_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	256					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CTCGGTCATTGGTGCTTCAGG	0.647000														8			9		0	0	0.000274275	0	0
IL28A	282616	broad.mit.edu	37	19	39760175	39760175	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:39760175G>A	uc002oku.1	+	3	370	c.318G>A	c.(316-318)ctG>ctA	p.L106L		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA.	106					response to virus	extracellular space	cytokine activity			cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCCTGACGCTGAAGGTTCTGG	0.637000														24			15		0	0	0.000566183	0	0
ZNRF1	84937	broad.mit.edu	37	16	75140409	75140409	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:75140409G>T	uc010cgr.1	+	4	1464	c.809G>T	c.(808-810)aGa>aTa	p.R270I	ZNRF1_uc002fdk.3_Missense_Mutation_p.R219I|ZNRF1_uc002fdl.1_Missense_Mutation_p.R219I	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN	Homo sapiens zinc and ring finger 1 (ZNRF1), mRNA.	219						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						GAAGTGAACAGATCTTGTCCG	0.602000														27			16		2.94398e-08	5.68654e-07	9.7654e-05	1	0
MUC5B	727897	broad.mit.edu	37	11	1272382	1272382	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:1272382C>T	uc001lta.3	+	30	14331	c.14272C>T	c.(14272-14274)Ctg>Ttg	p.L4758L		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4758	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCTCCACCCTGTGGACCAC	0.582000														26			6		0	0	3.59834e-05	0	0
NDRG2	57447	broad.mit.edu	37	14	21486621	21486621	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr14:21486621G>A	uc001vyy.3	-	13	1006	c.856C>T	c.(856-858)Ctc>Ttc	p.L286F	NDRG2_uc010tll.2_Missense_Mutation_p.L282F|NDRG2_uc001vyt.3_Missense_Mutation_p.L199F|NDRG2_uc001vyu.3_Missense_Mutation_p.L243F|NDRG2_uc001vyv.3_Missense_Mutation_p.L272F|NDRG2_uc001vyw.3_Missense_Mutation_p.L272F|NDRG2_uc001vzb.3_Missense_Mutation_p.L226F|NDRG2_uc001vyx.3_Missense_Mutation_p.L286F|NDRG2_uc001vza.3_Missense_Mutation_p.L272F|NDRG2_uc001vyz.3_Missense_Mutation_p.L272F|NDRG2_uc001vzc.3_Intron|NDRG2_uc010aig.3_Missense_Mutation_p.L275F|NDRG2_uc001vze.3_Missense_Mutation_p.L286F|NDRG2_uc001vzd.3_Missense_Mutation_p.L286F|NDRG2_uc001vzg.3_Missense_Mutation_p.L272F|NDRG2_uc001vzf.3_Missense_Mutation_p.L272F	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	286					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CTGACCTTGAGGAACGAGGTC	0.582000														13			9		0	0	0.000274275	0	0
RECQL4	9401	broad.mit.edu	37	8	145740779	145740779	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:145740779G>A	uc003zdj.3	-	6	1363	c.1321C>T	c.(1321-1323)Cct>Tct	p.P441S	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	441			P -> S.		DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCACCTCAGGTACAGGTTGT	0.627000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					47			12		0	0	0.000151284	0	0
PCLO	27445	broad.mit.edu	37	7	82545193	82545193	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:82545193C>T	uc003uhx.2	-	6	12398	c.12109G>A	c.(12109-12111)Gat>Aat	p.D4037N	PCLO_uc003uhv.2_Missense_Mutation_p.D4037N|PCLO_uc010lec.3_Missense_Mutation_p.D1002N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3968					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGATCAATATCTGCATAGAAA	0.398000														74			15		0	0	0.000422831	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376714	8376714	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:8376714C>A	uc001qui.2	-	4	780	c.221G>T	c.(220-222)gGg>gTg	p.G74V	FAM90A1_uc001quh.2_Missense_Mutation_p.G74V	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	74							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TTCCTTTTCCCCAAAGTTCGG	0.547000														45			32		9.65021e-13	1.87298e-11	0.000339439	1	0
CD48	962	broad.mit.edu	37	1	160650956	160650956	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:160650956C>T	uc001fwo.1	-	2	720	c.688G>A	c.(688-690)Ggt>Agt	p.G230S	CD48_uc001fwn.3_Intron	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	0					blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTCCAGTTACCCTGTGCCCCC	0.557000														10			9		0	0	3.86212e-05	0	0
RASGRP2	10235	broad.mit.edu	37	11	64507588	64507588	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:64507588C>T	uc009ypu.3	-	5	646	c.419G>A	c.(418-420)gGa>gAa	p.G140E	RASGRP2_uc001oat.3_Missense_Mutation_p.G42E|RASGRP2_uc001oau.3_5'UTR|RASGRP2_uc009ypv.3_Missense_Mutation_p.G140E|RASGRP2_uc009ypw.3_Missense_Mutation_p.G140E	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	140					Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTTTTCTGTCCCACAGGGTT	0.587000														45			21		0	0	0.000229342	0	0
EEF2	1938	broad.mit.edu	37	19	3982420	3982420	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:3982420G>A	uc002lze.3	-	4	698	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	205						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACAGGATCGATCTGGAAGT	0.632000														26			18		0	0	9.7654e-05	0	0
ABCC3	8714	broad.mit.edu	37	17	48734526	48734526	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:48734526C>T	uc002isl.3	+	3	548	c.468C>T	c.(466-468)atC>atT	p.I156I	ABCC3_uc002isk.4_Silent_p.I156I	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	156					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTCCAAGATCCTTTTAGCCA	0.567000														44			31		0	0	0.00058488	0	0
FBN1	2200	broad.mit.edu	37	15	48719895	48719895	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:48719895A>C	uc001zwx.2	-	57	7468	c.7073T>G	c.(7072-7074)gTc>gGc	p.V2358G	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2358	TB 9.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.P2357L(1)|p.P2357P(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGATTTGGTGACGGGGTTCCT	0.542000														26			21		0	0	0.000117367	0	0
GRID2	2895	broad.mit.edu	37	4	94316831	94316831	+	Missense_Mutation	SNP	G	A	A	rs76699542		TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:94316831G>A	uc011cdt.2	+	8	1577	c.1319G>A	c.(1318-1320)gGa>gAa	p.G440E	GRID2_uc011cdu.2_Missense_Mutation_p.G345E	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	440					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AACATGCGTGGAGTGGTTCTA	0.393000														54			30		0	0	0.000159656	0	0
NIN	51199	broad.mit.edu	37	14	51224286	51224286	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr14:51224286G>A	uc001wyi.3	-	17	3653	c.3462C>T	c.(3460-3462)gaC>gaT	p.D1154D	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Silent_p.D1154D|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Silent_p.D1154D	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1154					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TACTTCCCAGGTCCCGGACCT	0.478000			T	PDGFRB	MPD									55			20		0	0	0.000229342	0	0
MIPEP	4285	broad.mit.edu	37	13	24433031	24433031	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr13:24433031G>A	uc001uox.4	-	9	1202	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	358					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TGTAGTAAGGGGGGTCCCAGG	0.403000														17			17		0	0	9.7654e-05	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18800921	18800921	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:18800921G>A	uc001rdt.3	+	31	4413	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.D1474N|PIK3C2G_uc010sic.2_Missense_Mutation_p.D1252N	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1433					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGTCCCACTCGATAAAGAAAA	0.358000														18			14		0	0	0.000219431	0	0
TSPAN12	23554	broad.mit.edu	37	7	120446649	120446649	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:120446649C>T	uc003vjk.3	-	6	940	c.566G>A	c.(565-567)tGt>tAt	p.C189Y	TSPAN12_uc010lkj.3_Missense_Mutation_p.C62Y	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	189					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CTGTTTGGAACATCCTGGGAA	0.418000														39			21		0	0	0.000375601	0	0
SETD2	29072	broad.mit.edu	37	3	47155463	47155463	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:47155463A>G	uc003cqv.3	-	4	4671	c.4585T>C	c.(4585-4587)Tcc>Ccc	p.S1529P	SETD2_uc003cqs.3_Missense_Mutation_p.S1540P	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1540	AWS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CGTCTATTGGAACAATAATCC	0.393000			"""N, F, S, Mis"""		clear cell renal carcinoma									66			20		0	0	0.000375601	0	0
LOC440563	440563	broad.mit.edu	37	1	13183615	13183615	+	Silent	SNP	T	C	C			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:13183615T>C	uc010obg.2	-	1	501	c.258A>G	c.(256-258)gcA>gcG	p.A86A		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	86						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CTTTTGGCTCTGCAGCCAGGT	0.493000														51			4		0	0	0.00024832	0	0
EVPL	2125	broad.mit.edu	37	17	74015056	74015056	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:74015056C>T	uc010wss.1	-	10	1451	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	EVPL_uc002jqi.2_Missense_Mutation_p.R408Q|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	408	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGTTTCTTCGCTGTGGCAG	0.682000														16			11		0	0	0.000219431	0	0
ZNF304	57343	broad.mit.edu	37	19	57867735	57867735	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:57867735C>T	uc010etw.3	+	3	1027	c.639C>T	c.(637-639)tcC>tcT	p.S213S	ZNF304_uc010ygw.2_Silent_p.S166S|ZNF304_uc010etx.3_Silent_p.S124S	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TAGGGAGATCCTTTACGTGCA	0.498000														27			10		0	0	3.86212e-05	0	0
CDH18	1016	broad.mit.edu	37	5	19483630	19483630	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:19483630C>T	uc003jgd.3	-	11	2196	c.1662G>A	c.(1660-1662)agG>agA	p.R554R	CDH18_uc011cnm.2_Intron|CDH18_uc003jgc.3_Silent_p.R554R|CDH18_uc021xwu.1_Intron	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	554	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GACTAAATCTCCTCCGCCTTG	0.443000														26			19		0	0	0.000375601	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834771	125834771	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:125834771G>A	uc001uhe.1	+	1	834	c.826G>A	c.(826-828)Gtg>Atg	p.V276M	TMEM132B_uc021rgl.1_Missense_Mutation_p.V166M	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	276						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGGTCCCTGGTGAGCTTGGA	0.582000														93			59		0	0	0.000147903	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141231633	141231633	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:141231633G>A	uc003yvh.2	-	16	2790	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	TRAPPC9_uc003yvj.2_Silent_p.V827V|TRAPPC9_uc010mel.1_Silent_p.V248V|TRAPPC9_uc003yvi.1_Silent_p.V818V	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	827					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGGGCCGAACGACCTGCCGAA	0.522000														16			25		0	0	0.000586117	0	0
ADORA2A	135	broad.mit.edu	37	22	24829686	24829686	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:24829686C>T	uc002zzx.3	+	3	1077	c.314C>T	c.(313-315)gCc>gTc	p.A105V	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Missense_Mutation_p.A105V|ADORA2A_uc021wng.1_3'UTR|ADORA2A_uc011ajs.2_Intron|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guo.1_3'UTR|ADORA2A_uc010guq.3_Missense_Mutation_p.A105V|ADORA2A_uc010gup.3_Missense_Mutation_p.A105V|ADORA2A_uc003aab.3_Missense_Mutation_p.A105V	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	105					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CGCTACATTGCCATCCGCATC	0.632000														30			9		0	0	6.40141e-05	0	0
CDR1	1038	broad.mit.edu	37	X	139866084	139866084	+	Nonsense_Mutation	SNP	T	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:139866084T>A	uc004fbg.1	-	0	640	c.448A>T	c.(448-450)Aga>Tga	p.R150*	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	150	6 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AATCTACGTCTTCCAAAAAAG	0.438000														27			89		0	0	0.000147903	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432780	140432780	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140432780C>T	uc003lik.1	+	0	1802	c.1725C>T	c.(1723-1725)gaC>gaT	p.D575D		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	575					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCAATGACCTGGTGCCCA	0.493000														47			9		0	0	0.000274275	0	0
SCN5A	6331	broad.mit.edu	37	3	38601660	38601660	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:38601660C>T	uc021wvo.1	-	21	4275	c.4223G>A	c.(4222-4224)gGg>gAg	p.G1408E	SCN5A_uc021wvk.1_Missense_Mutation_p.G1407E|SCN5A_uc021wvl.1_Missense_Mutation_p.G1354E|SCN5A_uc021wvm.1_Missense_Mutation_p.G1408E|SCN5A_uc021wvn.1_Missense_Mutation_p.G1407E|SCN5A_uc021wvp.1_Missense_Mutation_p.G1408E|SCN5A_uc021wvq.1_Missense_Mutation_p.G1407E|SCN5A_uc021wvr.1_Missense_Mutation_p.G1408E|SCN5A_uc021wvs.1_Missense_Mutation_p.G1408E|SCN5A_uc021wvt.1_Missense_Mutation_p.G1407E|SCN5A_uc021wvu.1_Missense_Mutation_p.G1354E|SCN5A_uc021wvv.1_Missense_Mutation_p.G1408E|SCN5A_uc021wvj.1_Missense_Mutation_p.G1220E|SCN5A_uc021wvi.1_Missense_Mutation_p.G1274E|SCN5A_uc021wvw.1_Missense_Mutation_p.G1018E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1408			G -> R (in SSS1 and BRS1; also in cardiac conduction defect; dbSNP:rs28936971).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGCCAGGTACCCGGCCCCCAC	0.542000														4			4		0	0	1.23904e-05	0	0
OR2M2	391194	broad.mit.edu	37	1	248343804	248343804	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:248343804G>A	uc010pzf.2	+	0	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGTCTCGGGAAATAGCCCA	0.418000														140			67		0	0	0.000147903	0	0
DSC3	1825	broad.mit.edu	37	18	28604330	28604330	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr18:28604330C>T	uc002kwj.4	-	5	915	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	DSC3_uc002kwi.4_Missense_Mutation_p.E254K	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	254	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTACTACTTTCCAAAACTTCA	0.348000														36			16		0	0	0.000132079	0	0
NAA35	60560	broad.mit.edu	37	9	88577022	88577022	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr9:88577022C>T	uc004aoi.4	+	5	580	c.443C>T	c.(442-444)gCt>gTt	p.A148V	NAA35_uc004aoj.4_Missense_Mutation_p.A148V|NAA35_uc004aok.1_Missense_Mutation_p.A148V	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	148					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GCTATGAAGGCTTTTGCTCTG	0.368000														15			20		0	0	0.000175454	0	0
ADH6	130	broad.mit.edu	37	4	100137326	100137326	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:100137326G>A	uc003huo.2	-	1	206	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Missense_Mutation_p.R38C|ADH6_uc010ile.3_Missense_Mutation_p.R38C	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	38					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACCTTTATGCGAACTTCCTTT	0.393000														47			22		0	0	0.000375601	0	0
EPRS	2058	broad.mit.edu	37	1	220153506	220153506	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:220153506G>A	uc001hly.1	-	25	3902	c.3632C>T	c.(3631-3633)aCg>aTg	p.T1211M	RNU5F-1_uc021pjd.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	1211	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTCCTTTTCCGTCTTTCTTCC	0.373000														72			56		0	0	0.000147903	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011861	160011861	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:160011861G>A	uc001fuw.2	-	1	702	c.462C>T	c.(460-462)acC>acT	p.T154T		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	154						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	p.L153P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCAGGATGGTGGTGAGCACCA	0.537000														43			41		0	0	0.000589545	0	0
ZFR2	23217	broad.mit.edu	37	19	3834900	3834900	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:3834900C>T	uc002lyw.2	-	1	147	c.135G>A	c.(133-135)gtG>gtA	p.V45V	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	45						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGGCCGGGTTCACGGCAGGGT	0.677000														6			4		0	0	0.00024832	0	0
RUNX1T1	862	broad.mit.edu	37	8	93023292	93023292	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:93023292G>A	uc022axs.1	-	4	860	c.673C>T	c.(673-675)Cat>Tat	p.H225Y	RUNX1T1_uc003yfc.2_Missense_Mutation_p.H139Y|RUNX1T1_uc010mam.3_Missense_Mutation_p.H139Y|RUNX1T1_uc003yfe.2_Missense_Mutation_p.H129Y|RUNX1T1_uc003yfd.3_Missense_Mutation_p.H166Y|RUNX1T1_uc022axo.1_Missense_Mutation_p.H166Y|RUNX1T1_uc010mao.3_Missense_Mutation_p.H139Y|RUNX1T1_uc011lgi.2_Missense_Mutation_p.H177Y|RUNX1T1_uc022axp.1_Missense_Mutation_p.H166Y|RUNX1T1_uc022axq.1_Missense_Mutation_p.H166Y|RUNX1T1_uc022axr.1_Missense_Mutation_p.H166Y|RUNX1T1_uc022axt.1_Missense_Mutation_p.H166Y|RUNX1T1_uc022axu.1_Missense_Mutation_p.H146Y|RUNX1T1_uc022axv.1_Missense_Mutation_p.H166Y|RUNX1T1_uc003yfb.2_Missense_Mutation_p.H129Y|RUNX1T1_uc003yff.1_Missense_Mutation_p.H129Y|RUNX1T1_uc003yfg.2_Missense_Mutation_p.H129Y	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	166					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGTTTGGAATGAAATTCTTCA	0.318000														54			62		0	0	0.000147903	0	0
PRR14	78994	broad.mit.edu	37	16	30666248	30666249	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:30666248_30666249CC>TT	uc002dyy.3	+	7	1215_1216	c.957_958CC>TT	c.(955-960)acccca>acTTca	p.P320S	PRR14_uc002dyz.3_Missense_Mutation_p.P165S|PRR14_uc002dza.3_Missense_Mutation_p.P320S|PRR14_uc002dzb.1_Missense_Mutation_p.P134S	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	320	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			ACCACAATACCCCAGCACTTCT	0.668000														23			9		0	0	6.4e-05	0	0
VIL1	7429	broad.mit.edu	37	2	219299365	219299365	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:219299365C>T	uc002vib.3	+	12	1639	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	VIL1_uc010zke.2_Silent_p.F228F|VIL1_uc002via.3_Silent_p.F539F	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	539	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCCAATTTCCTCAATTCCA	0.562000														34			15		0	0	0.000308642	0	0
DGKH	160851	broad.mit.edu	37	13	42763258	42763258	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr13:42763258C>T	uc001uyl.2	+	14	1792	c.1725C>T	c.(1723-1725)agC>agT	p.S575S	DGKH_uc010tfh.2_Silent_p.S575S|DGKH_uc001uym.2_Silent_p.S575S|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Silent_p.S330S|DGKH_uc001uyo.2_Silent_p.S439S|DGKH_uc010tfj.2_Silent_p.S439S|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	575					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		CTGGCCTCAGCCCTCTCATTG	0.522000														40			23		0	0	0.000295444	0	0
RPP40	10799	broad.mit.edu	37	6	4996556	4996556	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:4996556G>A	uc003mwl.3	-	5	693	c.658C>T	c.(658-660)Cca>Tca	p.P220S	RPP40_uc003mwm.3_Missense_Mutation_p.P197S	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	220					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TGCAGCACTGGGCACTGGAGA	0.537000														54			21		0	0	0.000132079	0	0
USH2A	7399	broad.mit.edu	37	1	215914870	215914870	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:215914870C>T	uc001hku.1	-	59	11945	c.11558G>A	c.(11557-11559)gGa>gAa	p.G3853E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3853	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACTGCTAACTCCACAACTTCC	0.358000										HNSCC(13;0.011)				68			34		0	0	0.00058488	0	0
MNDA	4332	broad.mit.edu	37	1	158813902	158813902	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:158813902C>T	uc001fsz.1	+	3	760	c.560C>T	c.(559-561)tCg>tTg	p.S187L		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	187					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCCAACACTTCGTTTACTCCG	0.493000														53			35		0	0	0.000159656	0	0
ANK1	286	broad.mit.edu	37	8	41550337	41550337	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:41550337C>T	uc003xok.3	-	30	3771	c.3687G>A	c.(3685-3687)ctG>ctA	p.L1229L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.L545L|ANK1_uc003xoi.3_Silent_p.L1229L|ANK1_uc003xoj.3_Silent_p.L1229L|ANK1_uc003xol.3_Silent_p.L1229L|ANK1_uc003xom.3_Silent_p.L1270L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1229					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTCTTTGTACAGCAGGGTGG	0.542000														138			62		0	0	0.000147903	0	0
LSR	51599	broad.mit.edu	37	19	35741388	35741388	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:35741388C>T	uc002nyl.3	+	1	647	c.424C>T	c.(424-426)Ccg>Tcg	p.P142S	LSR_uc010xsr.2_Missense_Mutation_p.P142S|LSR_uc002nym.3_Missense_Mutation_p.P142S|LSR_uc002nyn.3_Missense_Mutation_p.P142S|LSR_uc002nyo.3_Missense_Mutation_p.P142S|LSR_uc002nyp.3_Missense_Mutation_p.P105S	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	142	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGCCTTCTCCCCGGCCAGCGT	0.632000														33			17		0	0	7.07596e-05	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716597	13716597	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:13716597C>T	uc001rbt.2	-	12	3754	c.3575G>A	c.(3574-3576)gGg>gAg	p.G1192E		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1192					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCAGGTACCCCGCTGACCAC	0.617000														36			29		0	0	0.000491102	0	0
SALL1	6299	broad.mit.edu	37	16	51174059	51174059	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:51174059G>A	uc021tif.1	-	1	2105	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*	SALL1_uc021tid.1_Nonsense_Mutation_p.Q595*|SALL1_uc021tie.1_Nonsense_Mutation_p.Q692*|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	692					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACCAGTTGCTGAAGCTTGGAC	0.532000														71			46		0	0	0.000147903	0	0
ITGAL	3683	broad.mit.edu	37	16	30510810	30510810	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:30510810G>A	uc002dyi.4	+	17	2321	c.2145_splice	c.e17+1	p.P715_splice	ITGAL_uc002dyj.4_Splice_Site_p.P632_splice|ITGAL_uc010vev.2_Splice_Site_p.P111_splice	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	715					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCATTTCCCGGTAAGGGAGC	0.557000														36			22		0	0	0.000229342	0	0
PEG3	5178	broad.mit.edu	37	19	57328917	57328917	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:57328917G>A	uc002qnu.2	-	6	1244	c.893C>T	c.(892-894)tCa>tTa	p.S298L	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S269L|PEG3_uc002qnv.2_Missense_Mutation_p.S298L|PEG3_uc002qnw.2_Missense_Mutation_p.S174L|PEG3_uc002qnx.2_Missense_Mutation_p.S172L|PEG3_uc010etr.2_Missense_Mutation_p.S298L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	298					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCGGTGGGTTGATTTTTTGGC	0.468000														61			40		0	0	0.000147903	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503831	140503831	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140503831G>A	uc003lip.1	+	0	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	751					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACCAGTACGAGGTGTGTCT	0.597000														45			31		0	0	0.000409698	0	0
CCDC105	126402	broad.mit.edu	37	19	15132664	15132664	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:15132664G>A	uc002nae.2	+	5	1283	c.1184G>A	c.(1183-1185)aGa>aAa	p.R395K		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	395					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AAGCTGGACAGACCCCTGGTT	0.642000														13			14		0	0	0.000566183	0	0
IL31RA	133396	broad.mit.edu	37	5	55155392	55155392	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:55155392G>A	uc003jql.3	+	1	311	c.119G>A	c.(118-120)tGg>tAg	p.W40*	IL31RA_uc003jqk.3_Nonsense_Mutation_p.W40*|IL31RA_uc011cqj.2_5'UTR|IL31RA_uc003jqm.3_Nonsense_Mutation_p.W21*|IL31RA_uc003jqn.3_Nonsense_Mutation_p.W40*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.W8*|IL31RA_uc021xyq.1_Nonsense_Mutation_p.W21*|IL31RA_uc003jqo.3_5'UTR	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	8	Fibronectin type-III 1.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGGCACTGTGGATGCTCCCC	0.473000														48			35		0	0	0.000374591	0	0
WRAP73	49856	broad.mit.edu	37	1	3551763	3551763	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:3551763G>A	uc001ako.3	-	6	807	c.699C>T	c.(697-699)ccC>ccT	p.P233P	WRAP73_uc001akn.3_Silent_p.P233P|WRAP73_uc010nzi.2_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	233						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ACTGACTGCTGGGGCTCCAGG	0.602000														15			10		0	0	0.00010058	0	0
TTN	7273	broad.mit.edu	37	2	179422801	179422801	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:179422801C>T	uc021vsy.1	-	276	79801	c.79576G>A	c.(79576-79578)Gaa>Aaa	p.E26526K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E20221K|TTN_uc021vta.1_Missense_Mutation_p.E20154K|TTN_uc021vtb.1_Missense_Mutation_p.E20029K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27453	Fibronectin type-III 93.						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)			GCAGTAATTTCGGTATTAAAT	0.428000														88			31		0	0	0.000339439	0	0
LRP6	4040	broad.mit.edu	37	12	12302058	12302059	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:12302058_12302059CG>AT	uc001rah.4	-	13	3165_3166	c.3023_3024CG>AT	c.(3022-3024)ccg>cAT	p.P1008H	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P1008H	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1008	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.P1008L(3)|p.P1008S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTTCTGACTCGGAACTGAGCT	0.431000														312			10		0	0	6.4e-05	0	0
ISLR2	57611	broad.mit.edu	37	15	74425238	74425238	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:74425238G>A	uc002axd.3	+	3	912	c.143G>A	c.(142-144)gGa>gAa	p.G48E	ISLR2_uc002axe.3_Missense_Mutation_p.G48E|ISLR2_uc010bjg.3_Missense_Mutation_p.G48E|ISLR2_uc010bjf.3_Missense_Mutation_p.G48E|ISLR2_uc021sqe.1_Missense_Mutation_p.G48E	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	48	LRRNT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTGCCGGAAGGACTGCCTGCC	0.642000														29			12		0	0	0.000151284	0	0
ODZ3	55714	broad.mit.edu	37	4	183245230	183245230	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:183245230G>A	uc003ivd.1	+	0	132	c.57G>A	c.(55-57)aaG>aaA	p.K19K	ODZ3_uc021xux.1_Silent_p.K19K|ODZ3_uc010irv.1_Silent_p.K19K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	19	Teneurin N-terminal.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GACGAGAGAAGGAACGGCGCT	0.507000														26			9		0	0	0.000442599	0	0
IL23R	149233	broad.mit.edu	37	1	67635191	67635191	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:67635191G>A	uc001ddo.3	+	2	322	c.237G>A	c.(235-237)agG>agA	p.R79R	IL23R_uc009waz.3_5'UTR|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_5'UTR|IL23R_uc010opk.2_Silent_p.R36R|IL23R_uc010opl.2_5'UTR|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_5'UTR|IL23R_uc010opn.2_5'UTR|IL23R_uc001ddr.3_Non-coding_Transcript	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	79					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						AAATCACAAGGATTAATAAAA	0.348000														87			47		0	0	0.000147903	0	0
CRYZ	1429	broad.mit.edu	37	1	75172593	75172593	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:75172593G>A	uc001dgk.3	-	8	1323	c.818C>T	c.(817-819)tCc>tTc	p.S273F	CRYZ_uc001dgj.3_Missense_Mutation_p.S273F|CRYZ_uc001dgl.3_Missense_Mutation_p.S239F|CRYZ_uc001dgm.3_Missense_Mutation_p.S136F	NM_001130042	NP_001880	Q08257	QOR_HUMAN	Homo sapiens crystallin, zeta (quinone reductase) (CRYZ), transcript variant 1, mRNA.	273					protein homotetramerization|visual perception|xenobiotic catabolic process	Golgi apparatus|cytosol	NADPH binding|NADPH:quinone reductase activity|mRNA 3'-UTR binding|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	CTTGGTTGAGGAAAAGAGAGT	0.383000														99			71		0	0	0.000147903	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334241	37334241	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:37334241G>A	uc003aqa.4	+	13	2608	c.2391G>A	c.(2389-2391)ggG>ggA	p.G797G	CSF2RB_uc003aqc.4_Silent_p.G803G	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	797					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGAACCCAGGGGAACGCCCGG	0.652000														16			12		0	0	0.000422831	0	0
RYR1	6261	broad.mit.edu	37	19	38985160	38985160	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:38985160C>T	uc002oit.3	+	38	6573	c.6443C>T	c.(6442-6444)tCc>tTc	p.S2148F	RYR1_uc002oiu.3_Missense_Mutation_p.S2148F|RYR1_uc002oiv.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2148	6 X approximate repeats.				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)	TCACCGTCCTCCGTGGAAGAC	0.662000														16			15		0	0	0.000219431	0	0
FAT3	120114	broad.mit.edu	37	11	92523143	92523143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:92523143G>A	uc001pdj.4	+	6	4387	c.4370G>A	c.(4369-4371)gGc>gAc	p.G1457D		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1457	Cadherin 13.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATGATAATGGCCCAGAATTC	0.398000										TCGA Ovarian(4;0.039)				195			123		0	0	0.000147903	0	0
LAMA2	3908	broad.mit.edu	37	6	129636925	129636925	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:129636925A>G	uc021zfb.1	+	25	3859	c.3754A>G	c.(3754-3756)Aaa>Gaa	p.K1252E	LAMA2_uc003qbn.3_Missense_Mutation_p.K1252E|LAMA2_uc003qbo.3_Missense_Mutation_p.K1252E	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1252	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTATGGGGGCAAACTCAAGTA	0.388000														17			45		0	0	0.000147903	0	0
FCRLA	84824	broad.mit.edu	37	1	161677088	161677088	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:161677088C>T	uc001gbe.3	+	0	327	c.85C>T	c.(85-87)Ctc>Ttc	p.L29F	FCRLA_uc001gbg.3_Missense_Mutation_p.L29F|FCRLA_uc009wup.3_Missense_Mutation_p.L29F|FCRLA_uc009wuq.3_Missense_Mutation_p.L29F|FCRLA_uc001gbd.3_Missense_Mutation_p.L29F|FCRLA_uc001gbf.3_Missense_Mutation_p.L29F|FCRLA_uc009wuo.3_Missense_Mutation_p.L29F	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	12					cell differentiation	cytoplasm|extracellular region		p.A28D(1)		breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGCCTGGGCCCTCTACCTTTC	0.488000														20			12		0	0	0.00010058	0	0
OVOS2	0	broad.mit.edu	37	12	31353379	31353379	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:31353379G>A	uc010sjy.1	-	2	351	c.351C>T	c.(349-351)ccC>ccT	p.P117P						RecName: Full=Ovostatin homolog 2; Flags: Precursor;									p.P117P(1)				all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTTGTAGGTGGGTTTATCAG	0.413000														10			13		0	0	0.000566183	0	0
TMEM57	55219	broad.mit.edu	37	1	25784926	25784926	+	Missense_Mutation	SNP	C	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:25784926C>A	uc001bkk.3	+	5	899	c.697C>A	c.(697-699)Cac>Aac	p.H233N	TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	233						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTATACACCACAATGGAGG	0.403000														189			11		0.000151284	0.00288083	0.000151284	1	0
LEPREL1	55214	broad.mit.edu	37	3	189681802	189681803	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:189681802_189681803CC>TT	uc011bsk.2	-	13	2366_2367	c.1978_1979GG>AA	c.(1978-1980)gga>AAa	p.G660K	LEPREL1_uc003fsg.3_Missense_Mutation_p.G479K	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	660	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACACCTCTTTCCCTTGGTGACT	0.495000														35			34		0	0	6.4e-05	0	0
FHL1	2273	broad.mit.edu	37	X	135289972	135289972	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:135289972A>T	uc004ezo.3	+	4	682	c.353A>T	c.(352-354)aAg>aTg	p.K118M	FHL1_uc010nrz.2_Missense_Mutation_p.K118M|FHL1_uc004ezq.2_Missense_Mutation_p.K118M|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Missense_Mutation_p.K118M|FHL1_uc011mvy.1_Missense_Mutation_p.K118M|FHL1_uc004ezn.2_Missense_Mutation_p.K118M|FHL1_uc022ceu.1_Missense_Mutation_p.K118M|FHL1_uc011mwa.1_Missense_Mutation_p.K147M|FHL1_uc011mwb.1_Non-coding_Transcript|FHL1_uc004ezp.2_Missense_Mutation_p.K134M|FHL1_uc004ezr.2_5'UTR	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	118	LIM zinc-binding 2.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTGGAGTACAAGGGGACCGTC	0.567000														10			4		0	0	0.00024832	0	0
CRNN	49860	broad.mit.edu	37	1	152382958	152382958	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:152382958C>T	uc001ezx.2	-	2	674	c.600G>A	c.(598-600)agG>agA	p.R200R		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	200	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTGATTCCTCTTGCCTT	0.542000														126			77		0	0	0.000147903	0	0
PDZD4	57595	broad.mit.edu	37	X	153071017	153071017	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:153071017G>A	uc004fja.1	-	5	862	c.612C>T	c.(610-612)atC>atT	p.I204I	PDZD4_uc004fiy.1_Silent_p.I123I|PDZD4_uc004fiz.1_Silent_p.I198I|PDZD4_uc004fix.2_Silent_p.I102I|PDZD4_uc011mze.1_Silent_p.I89I|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	198	PDZ.					cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGGCTCAGGATGGCCACCG	0.622000														10			21		0	0	9.22233e-05	0	0
FAT4	79633	broad.mit.edu	37	4	126336923	126336923	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:126336923C>T	uc003ifj.4	+	4	6805	c.6805C>T	c.(6805-6807)Cct>Tct	p.P2269S	FAT4_uc011cgp.2_Missense_Mutation_p.P567S	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2269	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTAAATGTCCCTGAGAATTT	0.368000														25			14		0	0	0.000219431	0	0
MYH4	4622	broad.mit.edu	37	17	10356510	10356511	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:10356510_10356511GG>TT	uc002gmn.3	-	23	3180_3181	c.3069_3070CC>AA	c.(3067-3072)accctg>acAAtg	p.L1024M	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1024					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTTGGTCAGGGTGTTGACTT	0.455000														252			11		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9089934	9089934	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:9089934G>A	uc002mkp.3	-	0	2085	c.1881C>T	c.(1879-1881)ctC>ctT	p.L627L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	627	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						TGGCTCTGGTGAGTAGGTGGG	0.587000														31			24		0	0	0.000586117	0	0
SEPT3	55964	broad.mit.edu	37	22	42377818	42377818	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:42377818C>T	uc003bbr.4	+	1	318	c.180C>T	c.(178-180)ttC>ttT	p.F60F	SEPT3_uc003bbs.4_Silent_p.F60F|SEPT3_uc011apj.2_Intron|SEPT3_uc010gys.3_5'UTR	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	Homo sapiens septin 3 (SEPT3), transcript variant A, mRNA.	60					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						AGACCGGTTTCGACTTCAACA	0.567000														7			4		0	0	0.00024832	0	0
PATZ1	23598	broad.mit.edu	37	22	31741169	31741169	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr22:31741169G>A	uc003akq.3	-	0	1081	c.420C>T	c.(418-420)gcC>gcT	p.A140A	PATZ1_uc003akp.3_Silent_p.A140A|PATZ1_uc003akr.3_Silent_p.A140A|PATZ1_uc003aks.3_Silent_p.A140A|Em:AC005003.4_uc003akt.3_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	140					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GCAGGAACTTGGCGGCCGTCA	0.547000														65			36		0	0	0.000437636	0	0
ZNF883	169834	broad.mit.edu	37	9	115759834	115759834	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr9:115759834G>A	uc011lwy.2	-	4	1945	c.706C>T	c.(706-708)Ccc>Tcc	p.P236S		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CACTCATAGGGTTTTTCTCCA	0.423000														7			20		0	0	0.000132079	0	0
TPD52L3	89882	broad.mit.edu	37	9	6328770	6328770	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr9:6328770G>A	uc003zjw.3	+	0	422	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	TPD52L3_uc003zjv.3_Missense_Mutation_p.E59K|TPD52L3_uc003zjx.2_Missense_Mutation_p.E59K	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	59							protein binding	p.G58G(1)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ACGCTGTGGGGAACTCAAGAG	0.502000														6			13		0	0	0.00010058	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046221	42046221	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:42046221C>T	uc001cgz.4	-	3	5461	c.4248G>A	c.(4246-4248)ttG>ttA	p.L1416L	HIVEP3_uc001cha.4_Silent_p.L1416L|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1416					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCTCCAGGCTCAAGATACTCT	0.493000														54			34		0	0	0.00058488	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984576	118984576	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr11:118984576C>T	uc001pvn.3	+	11	1863	c.1504C>T	c.(1504-1506)Ctt>Ttt	p.L502F	C2CD2L_uc001pvo.3_Missense_Mutation_p.L501F	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	501						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGACAGCCACCTTTCCAACGG	0.562000														19			10		0	0	3.86212e-05	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711066	140711066	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140711066G>A	uc003lji.2	+	0	815	c.815G>A	c.(814-816)gGa>gAa	p.G272E	PCDHGC5_uc011dan.2_Missense_Mutation_p.G272E	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	272	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGATGAGGGAGCCAATGGG	0.448000														25			14		0	0	0.000308642	0	0
MAMSTR	284358	broad.mit.edu	37	19	49217244	49217244	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:49217244C>T	uc002pkg.2	-	7	844	c.782G>A	c.(781-783)gGg>gAg	p.G261E	MAMSTR_uc002pkf.2_Missense_Mutation_p.G158E	NM_001130915	NP_872380	Q6ZN01	MASTR_HUMAN	Homo sapiens MEF2 activating motif and SAP domain containing transcriptional regulator (MAMSTR), transcript variant 1, mRNA.	261	Pro-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						cggagccgTCCCCGGGGTATC	0.682000														10			7		0	0	8.12818e-05	0	0
DNAH7	56171	broad.mit.edu	37	2	196709789	196709789	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:196709789C>T	uc002utj.4	-	46	8983	c.8882G>A	c.(8881-8883)cGa>cAa	p.R2961Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2961	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						ATTCCAAGTTCGAATTGTCAC	0.363000														27			19		0	0	0.000375601	0	0
CT45A5	441521	broad.mit.edu	37	X	134947909	134947909	+	Missense_Mutation	SNP	C	T	T	rs143395460	byFrequency	TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:134947909C>T	uc004eze.3	-	2	661	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	CT45A5_uc022ces.1_Missense_Mutation_p.R139Q|CT45A5_uc011mvu.2_Missense_Mutation_p.R139Q	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	139								p.R139Q(4)		endometrium(1)|large_intestine(2)|lung(6)	9						CTACTTACTTCGTCCAAGGCA	0.388000														17			53		0	0	0.000147903	0	0
GRIN2B	2904	broad.mit.edu	37	12	13715834	13715834	+	Silent	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:13715834G>A	uc001rbt.2	-	12	4517	c.4338C>T	c.(4336-4338)atC>atT	p.I1446I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1446					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCCTATACAGATGTCCTTCT	0.562000														18			27		0	0	0.000117367	0	0
CDYL2	124359	broad.mit.edu	37	16	80718728	80718728	+	Missense_Mutation	SNP	C	T	T	rs151165278	byFrequency	TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:80718728C>T	uc002ffs.3	-	1	428	c.323G>A	c.(322-324)cGa>cAa	p.R108Q		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	108						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGGGTTAATTCGCTTCCGTTT	0.562000														18			23		0	0	0.000375601	0	0
DOCK4	9732	broad.mit.edu	37	7	111381658	111381658	+	Silent	SNP	C	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:111381658C>A	uc003vfy.3	-	46	5234	c.4965G>T	c.(4963-4965)gtG>gtT	p.V1655V	DOCK4_uc011kml.2_Silent_p.V491V|DOCK4_uc011kmm.2_Silent_p.V517V|DOCK4_uc003vfw.3_Silent_p.V1060V|DOCK4_uc003vfx.3_Silent_p.V1610V|DOCK4_uc003vfv.3_5'Flank	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1610	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AGTTTCTACACACACGAGGGC	0.423000														6			18		7.07596e-05	0.00135382	7.07596e-05	1	0
PSG2	5670	broad.mit.edu	37	19	43576013	43576013	+	Missense_Mutation	SNP	G	A	A	rs149747966		TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:43576013G>A	uc002ovr.3	-	3	975	c.803C>T	c.(802-804)cCg>cTg	p.P268L	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	268	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.P268S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ATACTGTGCCGGTGGGTTAGA	0.458000														18			55		0	0	0.000147903	0	0
GRID2	2895	broad.mit.edu	37	4	94032039	94032039	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:94032039C>T	uc011cdt.2	+	3	928	c.670C>T	c.(670-672)Cga>Tga	p.R224*	GRID2_uc010ikx.3_Nonsense_Mutation_p.R224*|GRID2_uc011cdu.2_Nonsense_Mutation_p.R129*|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	224					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAATCGCTATCGAGACACTCT	0.413000														70			44		0	0	0.000147903	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84553961	84553961	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:84553961G>A	uc002bjz.4	+	9	1293	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G357R	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	357						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACGTGTGGAGGAGGTGAGGC	0.428000														21			11		0	0	0.000151284	0	0
FBN1	2200	broad.mit.edu	37	15	48719891	48719891	+	Silent	SNP	G	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:48719891G>T	uc001zwx.2	-	57	7472	c.7077C>A	c.(7075-7077)acC>acA	p.T2359T	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2359	TB 9.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATTCCGATTTGGTGACGGGGT	0.547000														25			18		9.86323e-18	1.93291e-16	0.000586117	1	0
MUC16	94025	broad.mit.edu	37	19	9049481	9049482	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:9049481_9049482CC>AA	uc002mkp.3	-	4	32353_32354	c.32149_32150GG>TT	c.(32149-32151)ggg>TTg	p.G10717L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10719	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						GGTTTCTGCCCCAGGACTGGTG	0.475000														221			9		0	0	6.4e-05	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745024	33745024	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:33745024G>A	uc002rox.3	+	5	806	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	RASGRP3_uc010ync.2_Missense_Mutation_p.R60Q|RASGRP3_uc002roy.3_Missense_Mutation_p.R60Q	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	60	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity	p.R60Q(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTTACGTATCGAAATGCCACT	0.368000														13			11		0	0	0.00010058	0	0
MYO9A	4649	broad.mit.edu	37	15	72191230	72191230	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:72191230G>A	uc002atl.4	-	24	4087	c.3614C>T	c.(3613-3615)gCc>gTc	p.A1205V	MYO9A_uc010biq.3_Missense_Mutation_p.A825V|MYO9A_uc002atn.1_Missense_Mutation_p.A1186V|MYO9A_uc002atk.3_5'UTR|MYO9A_uc002atm.1_5'UTR	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1205	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCCTCTATGGCTTTTATTCT	0.423000														88			63		0	0	0.000147903	0	0
C15orf38-AP3S2	100526783	broad.mit.edu	37	15	90378847	90378847	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr15:90378847G>A	uc002bos.4	-	9	1240	c.1085C>T	c.(1084-1086)gCt>gTt	p.A362V	C15orf38-AP3S2_uc010bns.3_Non-coding_Transcript|C15orf38-AP3S2_uc002bor.4_Non-coding_Transcript|C15orf38-AP3S2_uc002boq.4_Missense_Mutation_p.A161V	NM_001199058	NP_001185987	E2QRD5	E2QRD5_HUMAN	Homo sapiens C15orf38-AP3S2 readthrough (C15orf38-AP3S2), mRNA.	362					intracellular protein transport|vesicle-mediated transport	membrane coat	protein transporter activity										AGCAGACACAGCCCGCGCAGG	0.448000														62			29		0	0	0.000227799	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216016	140216016	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:140216016C>T	uc003lhq.2	+	0	2048	c.2048C>T	c.(2047-2049)tCg>tTg	p.S683L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.S683L	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	692	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGGGCATCGTTGGGCATT	0.632000														28			23		0	0	0.000295444	0	0
GLIS3	169792	broad.mit.edu	37	9	3879532	3879532	+	Missense_Mutation	SNP	G	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr9:3879532G>T	uc003zhx.1	-	7	2905	c.2192C>A	c.(2191-2193)cCa>cAa	p.P731Q	GLIS3_uc010mhf.1_Missense_Mutation_p.P125Q|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.P576Q|GLIS3_uc003zhy.1_Missense_Mutation_p.P509Q	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	576					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GACAGGATGTGGGGGTGGTAC	0.557000														9			25		9.39395e-14	1.83205e-12	0.000147802	1	0
TIE1	7075	broad.mit.edu	37	1	43777681	43777681	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr1:43777681C>T	uc001ciu.3	+	10	1686	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	TIE1_uc010okd.2_Silent_p.N503N|TIE1_uc010oke.2_Silent_p.N458N|TIE1_uc009vwq.3_Silent_p.N459N|TIE1_uc010okf.1_Silent_p.N148N|TIE1_uc010okg.2_Silent_p.N148N	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	503	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAGTGAGAACGTGACGTTAA	0.607000														37			11		0	0	0.000219431	0	0
ZNF331	55422	broad.mit.edu	37	19	54080114	54080114	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:54080114C>T	uc002qbx.1	+	6	1734	c.300C>T	c.(298-300)gtC>gtT	p.V100V	ZNF331_uc002qby.1_Silent_p.V100V|ZNF331_uc002qbz.1_Silent_p.V100V|ZNF331_uc010eqr.1_Silent_p.V100V|ZNF331_uc002qca.1_Silent_p.V100V|ZNF331_uc021uzg.1_Silent_p.V100V|ZNF331_uc021uzh.1_Silent_p.V100V|ZNF331_uc002qcb.1_Silent_p.V100V|ZNF331_uc002qcc.1_Silent_p.V100V|ZNF331_uc002qcd.1_Silent_p.V100V	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GGAGGTATGTCAATCAGATGA	0.428000			T	?	follicular thyroid adenoma									61			39		0	0	0.000509022	0	0
NOL11	25926	broad.mit.edu	37	17	65735061	65735061	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr17:65735061C>T	uc002jgd.1	+	14	1780	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y	NOL11_uc010wql.1_Missense_Mutation_p.H411Y|NOL11_uc010deu.1_Missense_Mutation_p.H188Y|SNORA38B_uc010dev.3_5'Flank	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	593						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCAATTCTTCATTCAGCATA	0.338000														70			38		0	0	0.000437636	0	0
TRAK1	22906	broad.mit.edu	37	3	42226209	42226209	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:42226209C>T	uc003cky.3	+	3	612	c.396C>T	c.(394-396)atC>atT	p.I132I	TRAK1_uc011azh.2_Silent_p.I132I|TRAK1_uc011azi.2_Silent_p.I132I|TRAK1_uc003ckz.4_Silent_p.I58I|TRAK1_uc011azj.2_Silent_p.I58I|TRAK1_uc003cla.3_Silent_p.I74I	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	132	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCGCTCGCATCGGCCAGTCGT	0.507000														79			49		0	0	0.000147903	0	0
SNORD113-9	767569	broad.mit.edu	37	14	101412024	101412024	+	RNA	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr14:101412024G>A	uc001yiq.3	+	0		c.39G>A								Homo sapiens small nucleolar RNA, C/D box 113-9 (SNORD113-9), small nucleolar RNA.																		CTGAATCTTGGATTTTGATTA	0.348000														48			69		0	0	0.000147903	0	0
FMNL3	91010	broad.mit.edu	37	12	50050213	50050213	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:50050213G>A	uc001ruv.1	-	8	1093	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	FMNL3_uc001ruw.1_Missense_Mutation_p.L236F|FMNL3_uc001ruu.1_Missense_Mutation_p.L137F	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	287	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding	p.L287F(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						AAGGCAGCAAGGATGATTTCG	0.507000														19			13		0	0	0.000219431	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57873182	57873182	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:57873182G>A	uc001sod.3	-	4	414	c.221C>T	c.(220-222)tCc>tTc	p.S74F	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.S3F|ARHGAP9_uc001soc.3_Missense_Mutation_p.S3F|ARHGAP9_uc001soe.1_Missense_Mutation_p.S82F|ARHGAP9_uc010sro.1_Missense_Mutation_p.S3F	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	3	SH3.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCACCGGCTGGATAGCATTGT	0.572000														16			12		0	0	0.00010058	0	0
GRM8	2918	broad.mit.edu	37	7	126173396	126173396	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:126173396C>T	uc003vlr.2	-	7	2351	c.2040G>A	c.(2038-2040)ggG>ggA	p.G680G	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.G680G|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	680					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CAGATTTCTTCCCCTGCTCAA	0.507000										HNSCC(24;0.065)				29			46		0	0	0.000147903	0	0
AARS	16	broad.mit.edu	37	16	70311047	70311047	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr16:70311047A>G	uc002eyn.1	-	2	265	c.155T>C	c.(154-156)aTt>aCt	p.I52T		NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	52					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GTTCAGGAAAATGGGTTTAAA	0.488000														42			37		0	0	0.000125731	0	0
DOCK11	139818	broad.mit.edu	37	X	117805075	117805075	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:117805075C>T	uc004eqp.2	+	45	5229	c.5166C>T	c.(5164-5166)atC>atT	p.I1722I	DOCK11_uc004eqq.2_Silent_p.I1501I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1722	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCAAGTTGATCGTTCCAATTT	0.353000														7			45		0	0	0.000147903	0	0
SH2D4A	63898	broad.mit.edu	37	8	19221586	19221586	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr8:19221586G>A	uc003wzc.3	+	6	1018	c.710G>A	c.(709-711)cGa>cAa	p.R237Q	SH2D4A_uc003wzb.3_Missense_Mutation_p.R237Q|SH2D4A_uc011kym.2_Missense_Mutation_p.R192Q	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	237						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TTTCCAGTGCGAAAATCCAAA	0.537000														25			26		0	0	0.000184323	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	G	G	rs60608267	by1000genomes	TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:132547093A>G	uc001ujn.3	+	46	8333	c.8181A>G	c.(8179-8181)caA>caG	p.Q2727Q	EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2763	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(18)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000														46			4		0	0	0.00024832	0	0
LYPD4	147719	broad.mit.edu	37	19	42342212	42342212	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:42342212G>A	uc002orp.1	-	3	1319	c.335C>T	c.(334-336)tCt>tTt	p.S112F	LYPD4_uc002orq.1_Missense_Mutation_p.S77F	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	112						anchored to membrane|plasma membrane		p.R111Q(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCAGAGATAAGACCGGCAGAC	0.527000														36			19		0	0	0.000295444	0	0
VCAN	1462	broad.mit.edu	37	5	82817593	82817593	+	Silent	SNP	T	C	C			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr5:82817593T>C	uc003kii.3	+	6	3824	c.3468T>C	c.(3466-3468)ccT>ccC	p.P1156P	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.P1156P|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1156	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTTTGAGTCCTTTTAGTACCC	0.398000														72			4		0	0	1.23904e-05	0	0
CORIN	10699	broad.mit.edu	37	4	47746434	47746434	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:47746434C>T	uc003gxm.3	-	4	877	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CORIN_uc011bzf.2_Missense_Mutation_p.E123K|CORIN_uc011bzg.2_Missense_Mutation_p.E195K|CORIN_uc011bzh.1_Missense_Mutation_p.E262K|CORIN_uc011bzi.1_Missense_Mutation_p.E262K|CORIN_uc003gxn.4_Missense_Mutation_p.E262K	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	262					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTTCCGTTTTCCTGCTGAGGT	0.378000														69			52		0	0	0.000147903	0	0
AKAP11	11215	broad.mit.edu	37	13	42876210	42876211	+	Missense_Mutation	DNP	CG	AT	AT	rs139388454	byFrequency	TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr13:42876210_42876211CG>AT	uc001uys.2	+	7	3503_3504	c.3328_3329CG>AT	c.(3328-3330)cgg>ATg	p.R1110M		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1110					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGTACCATCCCGGGCTAGTTCT	0.426000														66			5		0	0	6.4e-05	0	0
COL5A2	1290	broad.mit.edu	37	2	189957035	189957035	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr2:189957035C>T	uc002uqk.3	-	7	842	c.567_splice	c.e7+1	p.R189_splice		NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	189					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACACAACTCACCCTGCTCAAG	0.458000														4			8		0	0	0.000157383	0	0
MGAM	8972	broad.mit.edu	37	7	141719069	141719069	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr7:141719069C>T	uc003vwy.3	+	3	452	c.398C>T	c.(397-399)tCc>tTc	p.S133F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	133	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCTACTATTCCAAGAATCAT	0.512000														27			56		0	0	0.000147903	0	0
NKTR	4820	broad.mit.edu	37	3	42660522	42660522	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr3:42660522C>T	uc003clo.3	+	3	291	c.144C>T	c.(142-144)ggC>ggT	p.G48G	NKTR_uc003cll.1_Silent_p.G48G|NKTR_uc003clm.1_5'UTR|NKTR_uc011azp.2_5'UTR|NKTR_uc003clp.3_5'UTR|NKTR_uc003clq.1_5'Flank	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	48	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGAGAAAGGCCTTGGGAAAA	0.343000														36			26		0	0	9.22233e-05	0	0
GABRB1	2560	broad.mit.edu	37	4	47163300	47163300	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr4:47163300G>A	uc003gxh.3	+	3	649	c.275G>A	c.(274-276)tGg>tAg	p.W92*	GABRB1_uc011bze.2_Nonsense_Mutation_p.W22*	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	92					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGCAGTCTTGGAAAGACAAA	0.358000														64			31		0	0	0.000339439	0	0
ATP8B3	148229	broad.mit.edu	37	19	1789630	1789630	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:1789630C>T	uc002ltw.3	-	22	2809	c.2575G>A	c.(2575-2577)Gat>Aat	p.D859N	ATP8B3_uc002ltv.3_Missense_Mutation_p.D822N|ATP8B3_uc002ltx.3_Intron	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	859					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGAGGAAATCCCTCCTGGAC	0.692000														4			5		0	0	1.23904e-05	0	0
NLRP7	199713	broad.mit.edu	37	19	55449588	55449588	+	Silent	SNP	C	T	T			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr19:55449588C>T	uc002qih.4	-	4	2029	c.1953G>A	c.(1951-1953)ccG>ccA	p.P651P	NLRP7_uc010esk.3_Silent_p.P651P|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Silent_p.P651P|NLRP7_uc010esl.3_Silent_p.P679P	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	651			P -> S (in HYDM).				ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGCCCAGTTCGGAATGGTTA	0.488000														46			16		0	0	7.07596e-05	0	0
TNXB	7148	broad.mit.edu	37	6	32063513	32063514	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr6:32063513_32063514delAC	uc003nzl.2	-	2	2318_2319	c.2116_2117delGT	c.(2116-2118)gtafs	p.V706fs		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	706	EGF-like 18.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAAGCCCTCTACACACACACAC	0.668													---	239	---	---	7	---					
ABCB9	23457	broad.mit.edu	37	12	123425520	123425520	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chr12:123425520delC	uc001udm.4	-	7	1713	c.1403delG	c.(1402-1404)ggcfs	p.G468fs	ABCB9_uc021rfo.1_Frame_Shift_Del_p.G468fs|ABCB9_uc021rfp.1_Frame_Shift_Del_p.G468fs|ABCB9_uc010tai.2_Frame_Shift_Del_p.G75fs|ABCB9_uc001udo.4_Frame_Shift_Del_p.G425fs|ABCB9_uc010taj.2_Intron|ABCB9_uc001udq.3_Intron|ABCB9_uc021rfq.1_Frame_Shift_Del_p.G468fs|ABCB9_uc001udr.3_Frame_Shift_Del_p.G468fs	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	468	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	TAP complex|lysosomal membrane|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CTGCATCAGGCCACTGTAGAC	0.647													---	4	---	---	2	---					
NR0B1	190	broad.mit.edu	37	X	30326975	30326975	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1ZR-06A-21D-A197-08	TCGA-FS-A1ZR-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9cc5d5d-8138-4152-b438-80205e89997a	ba68f51e-905c-4dc0-aef0-91b38a158616	g.chrX:30326975delC	uc004dcf.4	-	0	521	c.506delG	c.(505-507)ggcfs	p.G169fs		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	169	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CCACCACGCGCCCCCTGGCCG	0.682											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	4	---	---	2	---					
