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
RAB5B	5869	broad.mit.edu	37	12	56385913	56385913	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:56385913C>T	uc001siv.3	+	5	745	c.565C>T	c.(565-567)Ctg>Ttg	p.L189L	RAB5B_uc001siw.3_Silent_p.L189L|RAB5B_uc010spz.2_Silent_p.L148L|RAB5B_uc009zog.3_Silent_p.L129L	NM_001252036	NP_001238965	P61020	RAB5B_HUMAN	Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA.	189					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|membrane fraction|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1)	9			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			ACCCCAGAATCTGGGAGGTGC	0.527000														39			21		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347640	91347640	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:91347640C>T	uc001tbj.3	-	0	1314	c.880G>A	c.(880-882)Gtg>Atg	p.V294M		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	294	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GCATCACACAcctcctggtca	0.517000														119			76		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929262	4929262	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:4929262G>A	uc010qyq.2	+	0	663	c.663G>A	c.(661-663)ttG>ttA	p.L221L		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TGCTGATCTTGAAGACTATAC	0.458000														25			91		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37864763	37864763	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:37864763G>A	uc002hso.3	+	2	653	c.415G>A	c.(415-417)Gag>Aag	p.E139K	ERBB2_uc010cwa.3_Missense_Mutation_p.E124K|ERBB2_uc002hsm.3_Missense_Mutation_p.E109K|ERBB2_uc002hsp.3_5'UTR|ERBB2_uc010cwb.3_Missense_Mutation_p.E139K|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Missense_Mutation_p.E109K|ERBB2_uc002hsn.1_Missense_Mutation_p.E139K	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	139					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	AGGCCTGCGGGAGCTGCAGCT	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				79			51		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10440701	10440701	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:10440701C>T	uc010coi.3	-	15	1874	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.L582L|MYH2_uc010coj.3_Silent_p.L582L	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	582	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATAGTGAATCAGAGCGAAGT	0.537000														119			82		0	0	1	0	0
CAV3	859	broad.mit.edu	37	3	8775623	8775623	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:8775623G>A	uc003bra.3	+	0	138	c.61G>A	c.(61-63)Gag>Aag	p.E21K	C3orf32_uc003bqz.3_Intron|CAV3_uc003brb.3_Missense_Mutation_p.E21K	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	21					T-tubule organization|cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of MAP kinase activity|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization	Golgi membrane|T-tubule|caveola|dystrophin-associated glycoprotein complex|neuromuscular junction	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CCACTGCAAGGAGATTGACCT	0.572000														40			10		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158587365	158587365	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:158587365C>T	uc001fst.1	-	46	6761	c.6562G>A	c.(6562-6564)Gaa>Aaa	p.E2188K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2188					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.E2188K(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTCCTGTTTCTTTGAGCAAT	0.338000														32			12		0	0	1	0	0
SUPT7L	9913	broad.mit.edu	37	2	27876388	27876388	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:27876388G>T	uc002rli.1	-	5	1552	c.1209C>A	c.(1207-1209)ttC>ttA	p.F403L	SUPT7L_uc002rlh.1_Missense_Mutation_p.F403L|SUPT7L_uc010ymf.1_Missense_Mutation_p.F268L|SUPT7L_uc010ezh.1_Missense_Mutation_p.F401L|SUPT7L_uc002rlj.1_Missense_Mutation_p.F401L	NM_014860	NP_055675	O94864	ST65G_HUMAN	Homo sapiens suppressor of Ty 7 (S. cerevisiae)-like (SUPT7L), mRNA.	403					histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)					AGCGCTGGTTGAAAACAGGGG	0.478000														64			52		2.43468e-25	2.50474e-25	1	1	0
PLEKHG5	57449	broad.mit.edu	37	1	6534165	6534165	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:6534165G>A	uc001anp.1	-	7	1228	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	PLEKHG5_uc001ann.1_Silent_p.L204L|PLEKHG5_uc001ano.1_Silent_p.L223L|PLEKHG5_uc001anq.1_Silent_p.L244L|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Silent_p.L7L|PLEKHG5_uc010nzr.1_Silent_p.L236L|PLEKHG5_uc001ank.1_Silent_p.L167L|PLEKHG5_uc009vmb.1_Silent_p.L167L|PLEKHG5_uc001anl.1_Silent_p.L167L|PLEKHG5_uc001anm.1_Silent_p.L167L	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	223					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GGCAAACTCAGGGACTTGGAG	0.662000														13			13		0	0	1	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24346017	24346017	+	RNA	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:24346017C>T	uc010edb.1	-	0		c.233G>A								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		TAGTGTGTGTCCTTCCGATAG	0.453000														41			26		0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125620300	125620300	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:125620300G>A	uc010mwc.1	-	12	2597	c.2356C>T	c.(2356-2358)Cac>Tac	p.H786Y	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.H786Y|RC3H2_uc004bne.4_Missense_Mutation_p.H786Y	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	786						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTCTGAGTGTGGTACTGTGCC	0.468000														12			64		0	0	1	0	0
ZNF93	81931	broad.mit.edu	37	19	20045607	20045607	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:20045607C>T	uc002non.3	+	3	2019	c.1843C>T	c.(1843-1845)Cat>Tat	p.H615Y		NM_031218	NP_112495	P35789	ZNF93_HUMAN	Homo sapiens zinc finger protein 93 (ZNF93), mRNA.	615						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						TGAGATAATTCATACTGGGGA	0.408000														37			23		0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179077937	179077937	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:179077937G>A	uc001gmj.4	-	11	2752	c.2465C>T	c.(2464-2466)cCa>cTa	p.P822L	ABL2_uc010pnf.2_Missense_Mutation_p.P719L|ABL2_uc010png.2_Missense_Mutation_p.P698L|ABL2_uc010pnh.2_Missense_Mutation_p.P801L|ABL2_uc001gmg.4_Missense_Mutation_p.P704L|ABL2_uc001gmi.4_Missense_Mutation_p.P807L|ABL2_uc010pne.2_Missense_Mutation_p.P683L	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	822	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ATTCTCTTCTGGCTGAGAAGA	0.517000			T	ETV6	AML									75			10		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659776	206659776	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:206659776G>A	uc002vaw.3	+	16	3581	c.2790G>A	c.(2788-2790)gaG>gaA	p.E930E	NRP2_uc002vax.3_Silent_p.E925E|NRP2_uc002vay.3_Silent_p.E908E	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	930					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCTGCTCCGAGGCATGACGGA	0.478000														22			19		0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030225	95030225	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr14:95030225G>A	uc010avd.3	+	1	791	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	SERPINA4_uc001ydk.3_Missense_Mutation_p.E136K|SERPINA4_uc001ydl.3_Missense_Mutation_p.E136K	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	136					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CCATGGGCTGGAAACACGCGT	0.567000														28			57		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76649203	76649203	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:76649203T>C	uc003kfa.3	+	9	1184	c.1139T>C	c.(1138-1140)cTg>cCg	p.L380P	PDE8B_uc003kfd.3_Missense_Mutation_p.L333P|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Missense_Mutation_p.L360P|PDE8B_uc003kfc.3_Missense_Mutation_p.L380P	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	380					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CTCAAGAAACTGTGTTGTACC	0.368000														37			26		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67148034	67148034	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:67148034G>A	uc001dcr.3	+	14	1514	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	SGIP1_uc010opd.2_Intron|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|SGIP1_uc009wat.3_Missense_Mutation_p.G200S	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	433	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CTCGGGCCCTGGTCCGGGGAC	0.592000														152			84		0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102215871	102215871	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:102215871G>A	uc002bxm.3	-	12	1775	c.1720C>T	c.(1720-1722)Caa>Taa	p.Q574*	TARSL2_uc002bxl.3_Nonsense_Mutation_p.Q119*|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	574					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGTTTAATTGAAAGGAGAAG	0.383000														65			67		0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67168328	67168328	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:67168328G>A	uc002erd.3	+	7	783	c.619G>A	c.(619-621)Gga>Aga	p.G207R	C16orf70_uc002erc.3_Missense_Mutation_p.G207R|C16orf70_uc002ere.1_3'UTR	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	207										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TCTTCGAGATGGAACTGGACC	0.512000														211			129		0	0	1	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476272	87476272	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:87476272G>A	uc003uje.3	-	7	998	c.623C>T	c.(622-624)cCt>cTt	p.P208L		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	208					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ACCTGAGAAAGGTACATCTCT	0.373000														73			87		0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48626277	48626277	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:48626277C>T	uc002ird.3	+	4	609	c.468C>T	c.(466-468)gaC>gaT	p.D156D	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Silent_p.D96D|SPATA20_uc002irf.3_Silent_p.D140D|SPATA20_uc010wmv.1_Silent_p.D140D|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	140					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			TGAAGGTAGACCGTGAGGAGC	0.587000														39			22		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320839	128320840	+	Missense_Mutation	DNP	GG	AA	AA	rs148544932		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:128320839_128320840GG>AA	uc003kuy.3	+	2	891_892	c.495_496GG>AA	c.(493-498)acggta>acAAta	p.V166I	SLC27A6_uc003kuz.3_Missense_Mutation_p.V166I	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	166					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGCTTGGAACGGTAGAAGAAAT	0.391000														30			18		0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850855	71850855	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:71850855C>T	uc001ory.1	+	4	894	c.844C>T	c.(844-846)Cgt>Tgt	p.R282C	FOLR3_uc001orx.1_Missense_Mutation_p.R239C			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	238					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	GGCCCCGTCTCGTGGGATTAT	0.517000														21			35		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804556	54804556	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:54804556G>A	uc003pck.3	+	4	903	c.787G>A	c.(787-789)Gga>Aga	p.G263R		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	263										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GATAATTACAGGACAACTTGT	0.363000														47			29		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115582051	115582051	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:115582051C>T	uc003vhj.2	-	6	812	c.559G>A	c.(559-561)Gag>Aag	p.E187K	TFEC_uc003vhm.2_Missense_Mutation_p.E120K|TFEC_uc003vhk.2_Missense_Mutation_p.E158K|TFEC_uc003vhl.4_Missense_Mutation_p.E158K|TFEC_uc011kmw.2_Missense_Mutation_p.E277K	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	187	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.V186V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TTGATGTACTCCACTGATGCT	0.418000														93			119		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9892267	9892267	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:9892267G>A	uc003gmc.3	-	8	1243	c.1182C>T	c.(1180-1182)ttC>ttT	p.F394F	SLC2A9_uc003gmd.3_Silent_p.F365F	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	394					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GGGTCCCAAAGAAGAGGCCCA	0.527000														34			21		0	0	1	0	0
IQCE	23288	broad.mit.edu	37	7	2645590	2645590	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:2645590C>T	uc003sml.1	+	19	2008	c.1824C>T	c.(1822-1824)atC>atT	p.I608I	IQCE_uc011jvy.1_Silent_p.I592I|IQCE_uc011jvz.1_Silent_p.I543I|IQCE_uc003smo.4_Silent_p.I608I|IQCE_uc003smk.4_Silent_p.I592I|IQCE_uc003smn.4_Silent_p.I543I	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	608	IQ 2.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		TCGTCATCATCCAGTCCGCTC	0.692000														35			24		0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188250306	188250306	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:188250306G>A	uc010frt.3	-	2	400	c.17C>T	c.(16-18)aCc>aTc	p.T6I	CALCRL_uc002upv.4_Missense_Mutation_p.T6I	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	6						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AAAATTCAGGGTACACTTTTT	0.259000														32			12		0	0	1	0	0
REP15	387849	broad.mit.edu	37	12	27849976	27849976	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:27849976G>A	uc001rig.1	+	0	549	c.481G>A	c.(481-483)Ggt>Agt	p.G161S		NM_001029874	NP_001025045	Q6BDI9	REP15_HUMAN	Homo sapiens RAB15 effector protein (REP15), mRNA.	161						early endosome membrane				breast(1)|cervix(1)|large_intestine(2)|lung(4)|ovary(1)	9	Lung SC(9;0.0873)					GGATTGCCTGGGTCTGTTTAT	0.453000														51			51		0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110169802	110169802	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:110169802C>T	uc009wfh.1	+	7	1428	c.886C>T	c.(886-888)Ccg>Tcg	p.P296S	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.P215S|AMPD2_uc001dyc.1_Missense_Mutation_p.P296S|AMPD2_uc010ovr.1_Missense_Mutation_p.P221S|AMPD2_uc010ovs.1_Missense_Mutation_p.P178S|AMPD2_uc001dyd.1_Missense_Mutation_p.P177S|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	296					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGCAGATGCCCCGGTGCACCC	0.637000														48			33		0	0	1	0	0
OR8J1	219477	broad.mit.edu	37	11	56128352	56128352	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:56128352C>T	uc010rjh.2	+	0	662	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S210Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TGGTTGGTTCCTTGATTATAG	0.323000														64			46		0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186274415	186274415	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:186274415G>A	uc003fqg.3	-	3	771	c.642C>T	c.(640-642)ttC>ttT	p.F214F	TBCCD1_uc011bry.2_Silent_p.F214F|TBCCD1_uc003fqh.3_Silent_p.F118F	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	214					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		CTTCAATAAGGAAGCTGAGCG	0.443000														41			48		0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231738153	231738153	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:231738153C>T	uc002vqz.3	+	1	262	c.142C>T	c.(142-144)Cga>Tga	p.R48*	ITM2C_uc002vra.3_Intron|ITM2C_uc002vrb.3_Nonsense_Mutation_p.R48*|ITM2C_uc002vrc.3_5'Flank|ITM2C_uc002vrd.3_5'Flank	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	48					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCCACAACATCGATCCAAGAG	0.627000														24			14		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89653829	89653829	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:89653829G>A	uc001kfb.3	+	1	1159	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	43	Phosphatase tensin-type.				T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.L42R(6)|p.Y27fs*1(2)|p.E43*(2)|p.Y27_N212>Y(2)|p.E43fs*11(2)|p.L42P(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGAAAGACTTGAAGGCGTATA	0.294000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				14			35		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103453274	103453274	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:103453274G>A	uc001dum.3	-	29	2771	c.2453C>T	c.(2452-2454)cCa>cTa	p.P818L	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.P806L|COL11A1_uc001dun.3_Missense_Mutation_p.P767L|COL11A1_uc009weh.3_Missense_Mutation_p.P690L	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	806	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P818S(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTCCCCTCTTGGGCCAATTTG	0.458000														43			28		0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130778039	130778039	+	Splice_Site	SNP	C	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:130778039C>A	uc003ysr.3	-	4	1287	c.405_splice	c.e4-1	p.R135_splice		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	135						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CCAACAGTTTCCTGGGGATTT	0.522000														36			23		3.10358e-05	3.1476e-05	1	1	0
LOC643733	643733	broad.mit.edu	37	11	104779603	104779603	+	RNA	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:104779603G>A	uc021qpn.1	-	1		c.196C>T			LOC643733_uc021qpo.1_Non-coding_Transcript|LOC643733_uc001phz.3_Non-coding_Transcript					Homo sapiens caspase 4, apoptosis-related cysteine peptidase pseudogene (LOC643733), transcript variant 1, non-coding RNA.																		CTGTAACCCAGATCCTCAAGC	0.463000														21			19		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8595349	8595349	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:8595349C>T	uc002mkg.3	-	19	2290	c.2152G>A	c.(2152-2154)Gag>Aag	p.E718K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	718	IQ.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCACCTTCCTCCCGCATCTCC	0.652000														155			83		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51748166	51748166	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:51748166G>A	uc001ryk.2	-	10	2091	c.1866C>T	c.(1864-1866)gtC>gtT	p.V622V	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Silent_p.V622V|GALNT6_uc001ryj.1_Silent_p.V187V	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	622	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGGTCCTAGACAAAGAGCC	0.562000														22			6		0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33545302	33545302	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:33545302C>T	uc001iwx.4	-	4	1279	c.756G>A	c.(754-756)gcG>gcA	p.A252A	NRP1_uc001iwv.4_Silent_p.A252A|NRP1_uc001iwy.4_Silent_p.A252A|NRP1_uc009xlz.3_Silent_p.A252A|NRP1_uc001iww.4_Silent_p.A71A|NRP1_uc001iwz.2_Silent_p.A252A|NRP1_uc001ixa.2_Silent_p.A252A|NRP1_uc001ixb.2_Silent_p.A252A|NRP1_uc001ixc.1_Silent_p.A252A	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	252	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CTTTTGCTATCGCGCTGTCGG	0.473000														24			53		0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2943920	2943920	+	Splice_Site	SNP	G	C	C	rs144256817		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:2943920G>C	uc003ggj.1	-	14	2123	c.2051_splice	c.e14+1	p.R684_splice	NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggl.3_Splice_Site_p.R684_splice	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	684					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CTCACATACCGGATGTGATTG	0.602000														46			32		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196227479	196227479	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:196227479C>T	uc001gtd.1	-	25	3116	c.3056G>A	c.(3055-3057)cGa>cAa	p.R1019Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.R952Q|KCNT2_uc001gtf.1_Missense_Mutation_p.R995Q|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.R523Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1019						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R1019Q(2)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTCAGTCTTCGGGCCCACTG	0.512000														49			56		0	0	1	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032355	46032355	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr21:46032355C>T	uc002zfo.1	+	0	360	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	113	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ACCTCCTCCCCCTGCCAACAG	0.637000														133			105		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1992122	1992122	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:1992122C>T	uc021qsx.1	-	12	1627	c.1396G>A	c.(1396-1398)Gtg>Atg	p.V466M	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.V354M	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	466	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TATTCCATCACGTTCTCCTGG	0.622000														22			3		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91497757	91497757	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:91497757C>T	uc001kgs.1	+	19	3231	c.3159C>T	c.(3157-3159)ttC>ttT	p.F1053F	KIF20B_uc001kgr.1_Silent_p.F1013F|KIF20B_uc001kgt.1_Silent_p.F264F|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1053					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAATTCTTTCCACTCTAGTA	0.333000														23			48		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49030703	49030703	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:49030703T>C	uc001zwz.3	-	26	5069	c.4876A>G	c.(4876-4878)Att>Gtt	p.I1626V	CEP152_uc001zwy.3_Missense_Mutation_p.I1570V	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1570					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GTTTGACAAATCATATTACTT	0.398000														98			84		0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94975508	94975508	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:94975508C>A	uc001tdj.2	-	1	1003	c.885G>T	c.(883-885)agG>agT	p.R295S	TMCC3_uc001tdi.2_Missense_Mutation_p.R264S	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	295						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						CCTTGATCTCCCTCAGTTCCT	0.557000														49			25		1.37878e-21	1.40833e-21	1	1	0
STL	7955	broad.mit.edu	37	6	125233680	125233680	+	RNA	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:125233680C>T	uc003pzq.3	-	6		c.1054G>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		TGCCAAGGGACTTACTGCCTC	0.418000			T	ETV6	B-ALL									3			13		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37904009	37904009	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:37904009G>A	uc003tfn.3	+	8	886	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	172	NDK 1.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AAAAGTTCTAGAAATTAAAAG	0.274000														35			6		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540522	169540522	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:169540522G>A	uc003fgb.3	+	0	813	c.813G>A	c.(811-813)aaG>aaA	p.K271K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	271										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCTGGAGAAGGTGCCACGCC	0.612000														34			19		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540286	55540286	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:55540286C>T	uc003xsd.1	+	3	3992	c.3844C>T	c.(3844-3846)Cct>Tct	p.P1282S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1282					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CACTTTTTTTCCTAGTGATGG	0.408000														161			78		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24919327	24919327	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:24919327C>T	uc002dmu.3	+	12	1540	c.1309C>T	c.(1309-1311)Cct>Tct	p.P437S	SLC5A11_uc002dms.3_Missense_Mutation_p.P373S|SLC5A11_uc010vcd.2_Missense_Mutation_p.P402S|SLC5A11_uc002dmt.3_Missense_Mutation_p.P281S|SLC5A11_uc010vce.2_Missense_Mutation_p.P367S|SLC5A11_uc010bxt.3_Missense_Mutation_p.P373S|SLC5A11_uc002dmv.3_Missense_Mutation_p.P60S	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	437					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CCTCTGGATCCCTGTGGTCCA	0.577000														163			126		0	0	1	0	0
GLT25D1	79709	broad.mit.edu	37	19	17690353	17690353	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:17690353C>T	uc002nhc.1	+	9	1341	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	GLT25D1_uc010eax.1_Silent_p.F171F	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	443					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						TTGAGATCTTCTTCAAGAGAC	0.597000														98			53		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777008	18777008	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:18777008C>T	uc003zne.4	+	18	2933	c.2781C>T	c.(2779-2781)gcC>gcT	p.A927A		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	927	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCACGGTGGCCCCCTTCGGCT	0.667000														5			29		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325757	158325757	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:158325757C>T	uc001fse.3	+	3	1059	c.766C>T	c.(766-768)Cga>Tga	p.R256*	CD1E_uc010pid.2_Nonsense_Mutation_p.R254*|CD1E_uc010pie.2_Nonsense_Mutation_p.R157*|CD1E_uc001fsh.3_Nonsense_Mutation_p.R67*|CD1E_uc001fry.3_Intron|CD1E_uc001fsf.3_Nonsense_Mutation_p.R256*|CD1E_uc001fsg.3_Nonsense_Mutation_p.R67*|CD1E_uc009wsv.3_Nonsense_Mutation_p.R157*|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Nonsense_Mutation_p.R166*|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Nonsense_Mutation_p.R256*|CD1E_uc001frz.3_Nonsense_Mutation_p.R166*|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Nonsense_Mutation_p.R67*|CD1E_uc021pbm.1_Non-coding_Transcript|CD1E_uc009wsw.3_Nonsense_Mutation_p.R14*	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	256	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGCACTCAGCGAGGGGACGT	0.627000														69			40		0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560367	210560367	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:210560367C>T	uc002vde.1	+	6	3721	c.3473C>T	c.(3472-3474)tCa>tTa	p.S1158L	MAP2_uc002vdc.1_Missense_Mutation_p.S1158L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.S1154L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1158					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCTCCAGAATCATCTCTAATT	0.453000														65			49		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149482222	149482222	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:149482222G>A	uc010lpk.3	+	20	2896	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	SSPO_uc010lpl.1_Silent_p.T301T	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	966					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCCAGGACGAGCGCTGTGT	0.637000														42			65		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108112877	108112877	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:108112877C>T	uc003dxa.1	-	37	5376	c.5319_splice	c.e37+1	p.E1773_splice		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1773						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAGGGACCCACCTCAATGGCT	0.537000														62			51		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27941432	27941432	+	Silent	SNP	A	G	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:27941432A>G	uc001boj.3	-	7	1170	c.1024T>C	c.(1024-1026)Ttg>Ctg	p.L342L	FGR_uc001boi.3_Silent_p.L45L|FGR_uc001bok.3_Silent_p.L342L|FGR_uc001bol.3_Silent_p.L342L|FGR_uc001bom.3_Silent_p.L342L	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	342	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AAATCCAGCAAGCTGCCTGGG	0.637000														10			4		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126137126	126137126	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:126137126G>A	uc001uhe.1	+	7	2047	c.2039G>A	c.(2038-2040)aGg>aAg	p.R680K	TMEM132B_uc001uhf.1_Missense_Mutation_p.R192K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	680						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)		GCAGACAAAAGGGCCATCGTC	0.607000														48			27		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190046	49190046	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:49190046G>A	uc002rww.3	-	9	2024	c.1914C>T	c.(1912-1914)ttC>ttT	p.F638F	FSHR_uc010fbn.3_Silent_p.F612F|FSHR_uc002rwx.3_Silent_p.F576F	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	638					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCAGCAGAATGAAGAAATCTC	0.458000									Gonadal Dysgenesis, 46 XX					39			26		0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365624	13365624	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:13365624G>A	uc003nat.2	-	1	1271	c.524C>T	c.(523-525)tCc>tTc	p.S175F	GFOD1_uc021ylt.1_Missense_Mutation_p.S72F|GFOD1_uc003nas.2_Missense_Mutation_p.S72F	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	175						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGTGCCCACGGAGTGCAGGCC	0.637000														24			14		0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151740681	151740681	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:151740681C>T	uc010pdm.2	+	3	518	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	OAZ3_uc010pdl.2_Nonsense_Mutation_p.Q106*	NM_016178	NP_057262	Q9UMX2	OAZ3_HUMAN	Homo sapiens ornithine decarboxylase antizyme 3 (OAZ3), transcript variant 1, mRNA.	103					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	TATCCCATATCAGGCCTTGGA	0.527000														24			13		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152188039	152188039	+	Silent	SNP	T	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:152188039T>A	uc001ezt.1	-	2	6142	c.6066A>T	c.(6064-6066)gcA>gcT	p.A2022A		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2022					keratinization		calcium ion binding|protein binding			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)			ACTGTCCTGATGCAGAACCAT	0.552000														742			160		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166187941	166187941	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:166187941C>T	uc002udc.3	+	13	2541	c.2251C>T	c.(2251-2253)Ctt>Ttt	p.L751F	SCN2A_uc002udd.3_Missense_Mutation_p.L751F|SCN2A_uc002ude.3_Missense_Mutation_p.L751F	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	751					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGTGAAACACCTTGTCAACCT	0.418000														66			46		0	0	1	0	0
INPP5K	51763	broad.mit.edu	37	17	1401312	1401312	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:1401312G>A	uc002fsr.3	-	7	1270	c.881C>T	c.(880-882)tCc>tTc	p.S294F	INPP5K_uc002fss.3_Missense_Mutation_p.S218F|INPP5K_uc002fsq.3_Missense_Mutation_p.S218F|INPP5K_uc010cjr.3_Missense_Mutation_p.S218F|INPP5K_uc010vql.2_Missense_Mutation_p.S202F|INPP5K_uc010vqm.2_Missense_Mutation_p.S198F	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	294	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CAGAGACAAGGAGAAGTGTGA	0.612000														141			86		0	0	1	0	0
PTTG2	10744	broad.mit.edu	37	4	37962067	37962067	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:37962067G>A	uc011bye.2	+	0	12	c.12G>A	c.(10-12)ctG>ctA	p.L4L	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	4					DNA metabolic process|chromosome organization	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						TGGCTACTCTGATCTACGTTG	0.438000														34			17		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454588	84454588	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:84454588C>T	uc001vlk.3	-	0	1941	c.1055G>A	c.(1054-1056)gGg>gAg	p.G352E		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	352	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TAAACCCGACCCTGGGATGTG	0.537000														73			57		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167163561	167163561	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:167163561C>T	uc010fpl.3	-	2	623	c.282G>A	c.(280-282)ggG>ggA	p.G94G	SCN9A_uc002udr.1_5'Flank|SCN9A_uc002uds.1_5'Flank|SCN9A_uc002udt.1_5'Flank	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	94						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGATTGTTTTCCCTTTGTTCA	0.328000														23			10		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453559	84453559	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:84453559G>A	uc001vlk.3	-	0	2970	c.2084C>T	c.(2083-2085)tCa>tTa	p.S695L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	695						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCTTAGTCTGAGAGCGAGTG	0.587000														26			18		0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714442	65714442	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:65714442C>T	uc001ogk.1	+	2	268	c.236C>T	c.(235-237)cCc>cTc	p.P79L	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	80										endometrium(2)|kidney(3)|lung(9)	14						GACCGCAAGCCCAGGGGCCAG	0.607000														48			21		0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92981814	92981814	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:92981814G>A	uc002bra.3	+	3	677	c.522G>A	c.(520-522)gaG>gaA	p.E174E	ST8SIA2_uc002brb.3_Silent_p.E153E	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	174					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTGGGCAGGAGATTGACGCCC	0.602000														51			27		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	107823080	107823080	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:107823080C>T	uc001vql.3	-	2	1658	c.1142G>A	c.(1141-1143)aGa>aAa	p.R381K		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	381						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTTTTCTTCTCTCCTGACGTC	0.443000														32			24		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63511054	63511054	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr18:63511054G>A	uc002lkb.3	+	6	1414	c.988G>A	c.(988-990)Gat>Aat	p.D330N	CDH7_uc002ljz.3_Missense_Mutation_p.D330N|CDH7_uc002lka.3_Missense_Mutation_p.D330N	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	330	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ACAGGAGCTGGATTTTGAAGC	0.423000														58			34		0	0	1	0	0
CCL23	6368	broad.mit.edu	37	17	34340784	34340784	+	Splice_Site	SNP	A	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:34340784A>C	uc002hkt.1	-	3	322	c.251_splice	c.e3+1	p.I84_splice	CCL23_uc002hks.1_Splice_Site_p.I101_splice	NM_145898	NP_665905	P55773	CCL23_HUMAN	Homo sapiens chemokine (C-C motif) ligand 23 (CCL23), transcript variant CKbeta8, mRNA.	84					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|negative regulation of cell proliferation	extracellular space	chemokine activity|heparin binding			large_intestine(2)|liver(1)|lung(2)|prostate(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	Treprostinil(DB00374)	TGGCACCTACATGACACCCGG	0.547000														33			26		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73053279	73053279	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:73053279C>T	uc001jro.3	+	11	2341	c.1890C>T	c.(1888-1890)gcC>gcT	p.A630A	UNC5B_uc001jrp.3_Silent_p.A619A	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	630	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AAGTCAGTGCCCGTGACTGGA	0.657000														29			49		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36641212	36641212	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:36641212A>T	uc002xhl.3	-	2	1216	c.1007T>A	c.(1006-1008)tTa>tAa	p.L336*	TTI1_uc002xhm.3_Nonsense_Mutation_p.L336*	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	336							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TAGTCCCACTAAGGCCTTCAG	0.463000														139			70		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31387101	31387101	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:31387101C>T	uc002wyc.3	+	15	2047	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Nonsense_Mutation_p.R556*|DNMT3B_uc002wye.3_Nonsense_Mutation_p.R556*|DNMT3B_uc010ztz.2_Nonsense_Mutation_p.R514*|DNMT3B_uc010zua.2_Nonsense_Mutation_p.R480*|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Nonsense_Mutation_p.R568*|DNMT3B_uc002wyg.3_Nonsense_Mutation_p.R275*|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	576					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCGGCCCATTCGAGTCCTGTC	0.587000														11			11		0	0	1	0	0
RNF185	91445	broad.mit.edu	37	22	31592963	31592963	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr22:31592963C>T	uc003akb.3	+	4	550	c.350C>T	c.(349-351)cCg>cTg	p.P117L	RNF185_uc010gwh.3_Non-coding_Transcript|RNF185_uc011alm.2_Missense_Mutation_p.P55L|RNF185_uc003akc.3_Missense_Mutation_p.P55L|RNF185_uc003ake.3_Intron	NM_152267	NP_689480	Q96GF1	RN185_HUMAN	Homo sapiens ring finger protein 185 (RNF185), transcript variant 1, mRNA.	117						integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						AGGCCAGAGCCGGAGAATAGA	0.433000														29			18		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33346697	33346697	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:33346697G>A	uc002xav.3	-	6	3125	c.554C>T	c.(553-555)cCc>cTc	p.P185L	NCOA6_uc002xaw.3_Missense_Mutation_p.P185L|NCOA6_uc021wcd.1_Missense_Mutation_p.P185L|NCOA6_uc021wce.1_Missense_Mutation_p.P185L|NCOA6_uc021wcf.1_Missense_Mutation_p.P185L|NCOA6_uc010gew.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	185	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCCACCCGGGGGTATCATAAC	0.458000														54			58		0	0	1	0	0
LGI3	203190	broad.mit.edu	37	8	22013918	22013919	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:22013918_22013919GG>AA	uc003xav.3	-	0	426_427	c.137_138CC>TT	c.(136-138)acc>aTT	p.T46I	SFTPC_uc003xaw.4_5'Flank|LGI3_uc010ltu.3_Missense_Mutation_p.T46I	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	46	LRRNT.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGGTGTCCCTGGTGCAAGAGCA	0.683000														1			7		0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102375280	102375280	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:102375280C>T	uc001vpf.2	-	4	756	c.660G>A	c.(658-660)ggG>ggA	p.G220G	FGF14_uc001vpe.2_Silent_p.G215G	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	215					JNK cascade|cell death|cell-cell signaling|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.G220W(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGACCGTTTCCCCAACATCAT	0.478000														62			36		0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128748467	128748467	+	Missense_Mutation	SNP	G	A	A	rs141383757	byFrequency	TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:128748467G>A	uc003ifm.3	+	16	2307	c.2054G>A	c.(2053-2055)gGc>gAc	p.G685D	HSPA4L_uc011cgr.2_Missense_Mutation_p.G652D	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	685					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAGAAATACGGCCAGCCTATT	0.323000														44			34		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065719	32065719	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:32065719C>T	uc003nzl.2	-	1	459	c.257G>A	c.(256-258)gGc>gAc	p.G86D	TNXB_uc010jts.1_Missense_Mutation_p.G85D|ATF6B_uc003nzm.1_3'UTR	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	86					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						TGGGGGACAGCCACAGCCAGT	0.602000														18			7		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018569	36018569	+	Silent	SNP	T	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:36018569T>C	uc002oad.2	-	0	685	c.615A>G	c.(613-615)agA>agG	p.R205R	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	200	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCAGCCT	0.632000														12			4		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33690465	33690465	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:33690465A>T	uc002hjg.4	-	1	609	c.362T>A	c.(361-363)gTc>gAc	p.V121D	SLFN11_uc010ctr.3_Missense_Mutation_p.V121D|SLFN11_uc010ctp.3_Missense_Mutation_p.V121D|SLFN11_uc010ctq.3_Missense_Mutation_p.V121D|SLFN11_uc002hjh.4_Missense_Mutation_p.V121D	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	121			V -> F (in dbSNP:rs12453150).			nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGGGGCTTGACAGAGCGATC	0.473000														73			40		0	0	1	0	0
DSCR10	259234	broad.mit.edu	37	21	39580519	39580519	+	RNA	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr21:39580519C>T	uc010gnt.2	+	2		c.641C>T								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		GTGTGTATGCCTGTGTGAGAA	0.448000														201			170		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113744028	113744028	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:113744028C>T	uc001vsu.3	+	25	3110	c.3110C>T	c.(3109-3111)cCc>cTc	p.P1037L	MCF2L_uc001vsq.3_Missense_Mutation_p.P1037L|MCF2L_uc010tjr.2_Missense_Mutation_p.P980L|MCF2L_uc001vsr.3_Missense_Mutation_p.P984L|MCF2L_uc001vss.4_Missense_Mutation_p.P978L|MCF2L_uc010tjs.2_Missense_Mutation_p.P978L	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	1010					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				ACAAAGCCCCCCGAAAAGGGC	0.577000														56			22		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46652877	46652877	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr22:46652877C>T	uc003bhh.3	-	0	6343	c.6343G>A	c.(6343-6345)Gaa>Aaa	p.E2115K		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2115					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAGTTCCATTCATGCTGACCA	0.443000														43			28		0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67267828	67267828	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:67267828G>A	uc002esl.3	-	12	1890	c.1778C>T	c.(1777-1779)cCc>cTc	p.P593L	FHOD1_uc010ced.3_Missense_Mutation_p.P400L|FHOD1_uc010vjh.1_Missense_Mutation_p.P253L	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	593	FH1.|Poly-Pro.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCCTTTGATGGGTGGGGGAGG	0.637000														5			21		0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118479464	118479464	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:118479464A>T	uc010oxe.1	+	3	520	c.454A>T	c.(454-456)Atc>Ttc	p.I152F	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_5'UTR	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	152						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAAGGATGCCATCACACAAGC	0.363000														56			38		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578217	58578217	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:58578217G>A	uc002qrg.3	+	3	440	c.437G>A	c.(436-438)tGg>tAg	p.W146*	ZNF135_uc002qre.3_Nonsense_Mutation_p.W122*|ZNF135_uc002qrf.3_Nonsense_Mutation_p.W80*|ZNF135_uc010yhq.2_Nonsense_Mutation_p.W134*|ZNF135_uc010yhr.2_5'UTR|ZNF135_uc002qrd.2_Nonsense_Mutation_p.W134*|ZNF135_uc021vcu.1_Intron	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	134					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.P146S(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GATGGTCTGTGGTACTGCAGG	0.517000														48			30		0	0	1	0	0
KRTAP10-5	386680	broad.mit.edu	37	21	45999719	45999719	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr21:45999719G>A	uc002zfl.1	-	0	763	c.737C>T	c.(736-738)tCc>tTc	p.S246F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	246	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCCTGGTAGGAGGAGGCAGG	0.721000														89			48		0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35579871	35579871	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:35579871C>T	uc001bym.3	+	9	2586	c.2440C>T	c.(2440-2442)Cgt>Tgt	p.R814C	ZMYM1_uc001byn.3_Missense_Mutation_p.R814C|ZMYM1_uc010ohu.2_Missense_Mutation_p.R795C|ZMYM1_uc001byo.3_Missense_Mutation_p.R454C|ZMYM1_uc009vut.3_Missense_Mutation_p.R739C	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	814						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGTCCATGATCGTACATTACT	0.358000														58			27		0	0	1	0	0
RPRD1A	55197	broad.mit.edu	37	18	33647303	33647303	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr18:33647303C>A	uc002kzg.3	-	0	71	c.65G>T	c.(64-66)aGc>aTc	p.S22I	RPRD1A_uc002kze.1_5'UTR|RPRD1A_uc010dmw.3_5'UTR|RPRD1A_uc010dmx.3_Missense_Mutation_p.S22I	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.	22	CID.							p.Q21H(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						GGTCTGCACGCTCTGCTGCGA	0.622000														7			5		0.014758	0.0148098	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52412278	52412278	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:52412278G>A	uc003xqu.4	-	4	534	c.433C>T	c.(433-435)Ctt>Ttt	p.L145F		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	145					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.A144V(1)|p.A144T(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATCTCAGAAGGTCTCCAAAG	0.418000														99			53		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579604	58579604	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:58579604G>A	uc002qrg.3	+	3	1827	c.1824G>A	c.(1822-1824)ggG>ggA	p.G608G	ZNF135_uc002qre.3_Silent_p.G584G|ZNF135_uc002qrf.3_Silent_p.G542G|ZNF135_uc010yhq.2_Silent_p.G596G|ZNF135_uc010yhr.2_Silent_p.G405G|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	596					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.C608C(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ATGAGTGTGGGAAATCCTTCA	0.532000														98			49		0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	69255255	69255255	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:69255255G>A	uc004dxs.3	+	7	1214	c.972G>A	c.(970-972)gtG>gtA	p.V324V	EDA_uc011mpj.2_Silent_p.V319V|EDA_uc004dxr.3_Silent_p.V322V	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	324					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						AGGTGGTGGTGGATGAGAAGC	0.552000														8			17		0	0	1	0	0
TWIST2	117581	broad.mit.edu	37	2	239757124	239757124	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:239757124C>T	uc021vyw.1	+	0	268	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	TWIST2_uc010znx.2_Missense_Mutation_p.R90C	NM_057179	NP_476527	Q8WVJ9	TWST2_HUMAN	Homo sapiens twist homolog 2 (Drosophila) (TWIST2), mRNA.	90	Helix-loop-helix motif.				negative regulation of osteoblast differentiation	cytoplasm	DNA binding										CGCGGCGCTGCGCAAGATCAT	0.647000														9			3		0	0	1	0	0
TACC3	10460	broad.mit.edu	37	4	1725500	1725500	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:1725500C>T	uc003gdo.3	+	2	363	c.208C>T	c.(208-210)Cta>Tta	p.L70L	TMEM129_uc003gdn.3_5'Flank|TMEM129_uc003gdm.3_5'Flank|TACC3_uc010ibz.3_Silent_p.L70L|TACC3_uc003gdp.3_Silent_p.L70L	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	70						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCACAGGATTCTAAGTCCTAG	0.507000														52			29		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427614	97427614	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:97427614G>A	uc002swx.3	+	0	976	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	293	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTGTGCTCCCGACATGGGCTG	0.552000														85			46		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119592159	119592159	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:119592159G>A	uc001txa.2	+	11	1891	c.1503G>A	c.(1501-1503)ccG>ccA	p.P501P		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	501	Arg-rich.|Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GAGACTCCCCGAGCCACCTGG	0.632000														12			7		0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232458755	232458755	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:232458755G>A	uc002vrz.3	+	0	1181	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.	365										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGAGACAGTGGAGCAGAGGAC	0.662000														42			34		0	0	1	0	0
CCDC19	25790	broad.mit.edu	37	1	159858161	159858161	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:159858161T>A	uc001fui.3	-	3	416	c.398A>T	c.(397-399)aAg>aTg	p.K133M	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.K48M|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.K133M	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	133						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTCCTTCTCCTTCTTGAAGGC	0.532000														43			27		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42588380	42588380	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:42588380C>A	uc003gwr.2	-	8	940	c.708G>T	c.(706-708)agG>agT	p.R236S	ATP8A1_uc003gws.2_Missense_Mutation_p.R236S|ATP8A1_uc011byz.1_Missense_Mutation_p.R236S	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	236					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTCCATCAAGCCTTATGTTTC	0.373000														43			22		7.41877e-09	7.55078e-09	1	1	0
ISOC2	79763	broad.mit.edu	37	19	55966692	55966692	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:55966692C>T	uc002qla.3	-	3	576	c.402G>A	c.(400-402)acG>acA	p.T134T	ISOC2_uc002qlb.3_Silent_p.T118T|ISOC2_uc002qlc.3_Silent_p.T48T	NM_024710	NP_078986	Q96AB3	ISOC2_HUMAN	Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	118					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GGTCCAGGGTCGTGTTCTGTG	0.632000														20			14		0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106879638	106879638	+	Silent	SNP	A	G	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:106879638A>G	uc011cfd.2	+	9	1473	c.1260A>G	c.(1258-1260)caA>caG	p.Q420Q	NPNT_uc011cfc.2_Silent_p.Q407Q|NPNT_uc011cfe.2_Intron|NPNT_uc003hya.3_Silent_p.Q390Q|NPNT_uc011cff.2_Intron	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	390	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TTCCACGGCAACCTTCAAATG	0.408000														32			14		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152284145	152284145	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:152284145C>T	uc001ezu.1	-	2	3253	c.3217G>A	c.(3217-3219)Gat>Aat	p.D1073N	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1073	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCACTATCACTGGCCTGA	0.577000									Ichthyosis					711			231		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120673793	120673793	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:120673793C>T	uc003eec.4	+	2	336	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	STXBP5L_uc011bji.2_Missense_Mutation_p.R66W	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	66					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCAGACAGTTCGGCATGGTTT	0.378000														31			17		0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74763985	74763985	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:74763985G>A	uc002smp.1	-	4	835	c.763C>T	c.(763-765)Ctc>Ttc	p.L255F	LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Missense_Mutation_p.L255F|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	255	SRCR 2.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CAGAGGGAGAGGTGGGCCTCC	0.657000														66			36		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730618	37730618	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:37730618G>A	uc003xkm.2	-	3	1758	c.1702C>T	c.(1702-1704)Cct>Tct	p.P568S	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	568	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GAGCTAGAAGGAAGAGGAGGA	0.532000														45			41		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51503047	51503047	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:51503047C>T	uc001zyz.4	-	10	1721	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	CYP19A1_uc001zza.4_Missense_Mutation_p.M490I	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	490					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GGGTAAAGATCATTTCCAGCA	0.448000														93			106		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471362	4471362	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:4471362C>T	uc001lyz.2	+	0	838	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTCATGCACCGTGTAGCCCG	0.512000														46			124		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28650811	28650811	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr18:28650811G>A	uc002kwl.4	-	13	2585	c.2131C>T	c.(2131-2133)Ctg>Ttg	p.L711L	DSC2_uc002kwk.4_Silent_p.L711L	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	711					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AGCGTAAACAGGATGCCTGGA	0.348000														53			22		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41749596	41749596	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:41749596G>A	uc010ehj.3	+	11	1711	c.1521G>A	c.(1519-1521)cgG>cgA	p.R507R	AXL_uc010ehi.1_Silent_p.R507R|AXL_uc010ehk.3_Silent_p.R498R|TRNA_Pseudo_uc021uux.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	507						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ACAGTCGTCGGACCACTGAAG	0.557000														70			63		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977757	70977757	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:70977757G>A	uc002ezr.3	-	41	6775	c.6624C>T	c.(6622-6624)ctC>ctT	p.L2208L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2209										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)				GTTCATCCGGGAGCACACAGC	0.627000														23			12		0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803375	20803375	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:20803375G>A	uc010vba.2	+	10	1540	c.1465G>A	c.(1465-1467)Ggg>Agg	p.G489R	ACSM3_uc002dhr.3_Missense_Mutation_p.G460R|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	460					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						CTATATCACTGGGGACAGAGG	0.378000														116			69		0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38131251	38131251	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:38131251C>T	uc002htl.1	+	9	1123	c.1005C>T	c.(1003-1005)ttC>ttT	p.F335F	GSDMA_uc002htm.1_Silent_p.F335F	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	335					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TCCTCTATTTCGTTGGAGCCC	0.458000														9			10		0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81680759	81680759	+	RNA	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:81680759G>A	uc021puw.1	+	3		c.602G>A			MBL1P_uc001kbg.1_Non-coding_Transcript					Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		GGGCCCCCAGGAAACACAGGG	0.562000														7			3		0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24175874	24175874	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr22:24175874C>T	uc002zyd.3	+	7	1336	c.1129C>T	c.(1129-1131)Cag>Tag	p.Q377*	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Nonsense_Mutation_p.Q368*|SMARCB1_uc002zyc.3_Nonsense_Mutation_p.Q359*	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	368					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.R377H(4)|p.Q368*(2)|p.?(2)|p.Q377*(1)|p.L266_*386del(1)|p.R377fs*10(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GATCCGCGACCAGGACAGGAA	0.622000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid								71			31		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105932271	105932271	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:105932271T>A	uc001kxw.3	-	19	2599	c.2483A>T	c.(2482-2484)aAt>aTt	p.N828I	WDR96_uc009xxq.3_Missense_Mutation_p.N136I|WDR96_uc001kxx.4_Missense_Mutation_p.N829I	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	828										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGTTTGTCATTTTCTTCCAT	0.313000														7			16		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936848	15936849	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:15936848_15936849GG>AA	uc003jfn.1	+	3	1510_1511	c.1029_1030GG>AA	c.(1027-1032)cgggag>cgAAag	p.E344K		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	344					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCGGCCTGCGGGAGATCGCCAA	0.658000														14			11		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220155602	220155602	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:220155602C>T	uc002vkz.3	-	20	2981	c.2740G>A	c.(2740-2742)Ggg>Agg	p.G914R	PTPRN_uc010zlc.2_Missense_Mutation_p.G824R|PTPRN_uc002vla.3_Missense_Mutation_p.G885R	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	914	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCGGTCCTCCCCGCACCATCA	0.612000														37			31		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6083420	6083420	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:6083420C>T	uc010idb.1	-	5	1503	c.1017G>A	c.(1015-1017)atG>atA	p.M339I	JAKMIP1_uc010idc.1_Missense_Mutation_p.M174I|JAKMIP1_uc010idd.1_Missense_Mutation_p.M339I|JAKMIP1_uc003giu.4_Missense_Mutation_p.M339I|JAKMIP1_uc011bwc.2_Missense_Mutation_p.M174I|JAKMIP1_uc003giv.4_Missense_Mutation_p.M339I|JAKMIP1_uc010ide.3_Missense_Mutation_p.M339I	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	339	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R338Q(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTTCTTGTTCATCCGCTTGT	0.517000														57			41		0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7851537	7851537	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:7851537C>T	uc002gjp.3	+	16	3222	c.2272C>T	c.(2272-2274)Cac>Tac	p.H758Y	CNTROB_uc002gjq.3_Missense_Mutation_p.H758Y|CNTROB_uc002gjr.3_Missense_Mutation_p.H660Y	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	758	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				ACCGCCTGTCCACAAAACCAA	0.552000														89			43		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773269	141773269	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:141773269C>T	uc002tvj.1	-	12	3158	c.2186G>A	c.(2185-2187)aGg>aAg	p.R729K	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	729					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTACCTTCCTGTGAGTCCC	0.358000										TSP Lung(27;0.18)				24			14		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19644444	19644444	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:19644444G>A	uc002gwk.3	-	3	1383	c.1120C>T	c.(1120-1122)Cag>Tag	p.Q374*	ALDH3A1_uc010cqu.3_Nonsense_Mutation_p.Q257*|ALDH3A1_uc010vzd.2_Nonsense_Mutation_p.Q257*|ALDH3A1_uc002gwj.3_Nonsense_Mutation_p.Q257*|ALDH3A1_uc010cqv.3_Nonsense_Mutation_p.Q257*|ALDH3A1_uc002gwl.1_Nonsense_Mutation_p.Q184*			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	257					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	ATTTGGTTCTGGATCGAGGGG	0.567000														43			26		0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49210091	49210091	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:49210091G>A	uc002rww.3	-	7	738	c.628C>T	c.(628-630)Cct>Tct	p.P210S	FSHR_uc010fbn.3_Missense_Mutation_p.P184S|FSHR_uc002rwx.3_Missense_Mutation_p.P210S	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	210					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	ACATCATTAGGCAATTCTTCT	0.403000									Gonadal Dysgenesis, 46 XX					54			27		0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51465133	51465133	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:51465133T>C	uc002puh.3	-	3	541	c.476A>G	c.(475-477)gAt>gGt	p.D159G	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.D150G|KLK6_uc002puj.3_Missense_Mutation_p.D43G|KLK6_uc010ycn.2_Missense_Mutation_p.D43G|KLK6_uc002pul.3_Missense_Mutation_p.D150G|KLK6_uc002pum.3_Missense_Mutation_p.D43G	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	150	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GTCAGGGAAATCACCTGTTAG	0.572000														52			31		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42088290	42088290	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:42088290G>A	uc011kbh.2	-	4	570	c.479C>T	c.(478-480)tCc>tTc	p.S160F	GLI3_uc011kbg.2_Missense_Mutation_p.S101F	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	160					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGATAAGGCGGAAGTCCTGGG	0.493000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					20			35		0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28775809	28775809	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:28775809G>A	uc002rmb.2	+	16	1142	c.1098G>A	c.(1096-1098)gcG>gcA	p.A366A	PLB1_uc010ezj.2_Silent_p.A377A|PLB1_uc002rmc.3_Silent_p.A54A	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	366	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GAGAAGGAGCGGAAATCAGAT	0.443000														105			17		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78195416	78195416	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:78195416C>T	uc002jyb.2	+	2	363	c.57C>T	c.(55-57)gcC>gcT	p.A19A	SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Silent_p.A19A|SLC26A11_uc002jyd.2_Silent_p.A19A|SLC26A11_uc010dhv.2_Silent_p.A19A	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	19						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCGGGATGGCCCCGAGCGCCT	0.682000														17			10		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38016291	38016291	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:38016291C>T	uc003gtb.3	+	2	937	c.579C>T	c.(577-579)atC>atT	p.I193I	TBC1D1_uc011byd.2_Silent_p.I193I|TBC1D1_uc010ifd.3_Intron|TBC1D1_uc011byf.1_Silent_p.I64I	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	193						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						CGGCCCTGATCGACGAGTGCA	0.672000														95			51		0	0	1	0	0
EMID2	136227	broad.mit.edu	37	7	101190505	101190506	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:101190505_101190506CC>TT	uc010lhy.1	+	7	1111_1112	c.919_920CC>TT	c.(919-921)ccc>TTc	p.P307F	EMID2_uc003uyo.1_Missense_Mutation_p.P309F	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	309	Collagen-like 2.					collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					ACCCCGGGGTCCCCCTGGTCCA	0.668000														5			11		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039696	248039696	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:248039696C>T	uc001ido.3	+	5	1414	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	456	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGCAACTCCTCTTATCTTGCC	0.408000														65			115		0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90161556	90161556	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:90161556G>C	uc002fqq.3	+	3	482	c.482G>C	c.(481-483)cGg>cCg	p.R161P	BC139719_uc002fqp.3_Missense_Mutation_p.R144P					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		GTGTGGGGCCGGAAACAACTG	0.567000														49			12		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107476	107476	+	RNA	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrGL000211.1:107476G>A	uc003boa.3	+	4		c.1016G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTTATATTTGGAAGCTCAACC	0.289000														86			6		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106480601	106480601	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:106480601C>T	uc001tlj.1	-	2	1804	c.424G>A	c.(424-426)Gat>Aat	p.D142N		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	142	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CTGATGTAATCGTACAGCTCC	0.502000														52			29		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741862	98741862	+	Missense_Mutation	SNP	C	T	T	rs150999644		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:98741862C>T	uc001kmv.3	+	0	822	c.715C>T	c.(715-717)Cca>Tca	p.P239S	C10orf12_uc009xvg.2_Missense_Mutation_p.P549S	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	239								p.P239S(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCTTACAATTCCAGCCCCTAG	0.493000														22			67		0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29629639	29629639	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr22:29629639G>A	uc003aem.3	+	9	1025	c.950G>A	c.(949-951)gGg>gAg	p.G317E	EMID1_uc003aen.3_Missense_Mutation_p.G315E|EMID1_uc021wnr.1_Missense_Mutation_p.G14E	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	315	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGTGTCCCTGGGAGTCCTGGT	0.522000														36			18		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15587190	15587190	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:15587190C>T	uc002nbg.3	-	1	424	c.291G>A	c.(289-291)gtG>gtA	p.V97V	PGLYRP2_uc002nbf.4_Silent_p.V97V	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	97					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATGTCGGGCCACCTCCTTGG	0.617000														64			15		0	0	1	0	0
IFT74	80173	broad.mit.edu	37	9	27011931	27011931	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:27011931G>C	uc010mja.3	+	9	881	c.754G>C	c.(754-756)Gat>Cat	p.D252H	IFT74_uc010mjb.3_Missense_Mutation_p.D252H|IFT74_uc003zqf.4_Missense_Mutation_p.D252H|IFT74_uc003zqg.4_Missense_Mutation_p.D252H	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	252						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		ACAACAATTGGATTCACAGAA	0.328000														4			6		0	0	1	0	0
SLC25A27	9481	broad.mit.edu	37	6	46623671	46623671	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:46623671C>T	uc003oyh.3	+	1	476	c.198C>T	c.(196-198)gcC>gcT	p.A66A	SLC25A27_uc011dwb.2_Silent_p.A66A|SLC25A27_uc003oyg.3_Silent_p.A66A|SLC25A27_uc011dwc.2_5'UTR|SLC25A27_uc003oyi.3_5'Flank	NM_004277	NP_004268	O95847	UCP4_HUMAN	Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	66					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		p.A66A(2)		central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAGAATCTGCCCCCTATAGGG	0.502000														77			52		0	0	1	0	0
PSG2	5670	broad.mit.edu	37	19	43585288	43585288	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:43585288G>A	uc002ovr.3	-	1	347	c.175C>T	c.(175-177)Ccc>Tcc	p.P59S	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	59	Ig-like V-type.				cell migration|female pregnancy	extracellular region		p.P59A(3)		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)				AGATTCTGGGGCAAATTGTGG	0.448000														137			101		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26849096	26849096	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:26849096C>T	uc001iss.3	+	11	1539	c.1218C>T	c.(1216-1218)acC>acT	p.T406T		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	406	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						ACACAAGAACCCTTAACCAGT	0.483000														19			41		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542491	55542491	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:55542491G>A	uc003xsd.1	+	3	6197	c.6049G>A	c.(6049-6051)Gaa>Aaa	p.E2017K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2017					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGGGTTAGAGGAAGAAGGTAA	0.313000														54			36		0	0	1	0	0
PSMD6	9861	broad.mit.edu	37	3	64008022	64008022	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:64008022G>A	uc003dmb.1	-	2	507	c.482C>T	c.(481-483)gCc>gTc	p.A161V	PSMD6_uc003dlz.1_Missense_Mutation_p.A59V|PSMD6_uc003dma.1_Missense_Mutation_p.A108V|PSMD6_uc003dmd.1_Missense_Mutation_p.A70V	NM_014814	NP_055629	Q15008	PSMD6_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 6 (PSMD6), mRNA.	108					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	ATPase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		GAGGTACTCGGCCTTTGCCAT	0.448000														96			53		0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65041212	65041212	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:65041212G>A	uc002anq.3	-	4	657	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_194272	NP_919248	Q6ZRY4	RBPS2_HUMAN	Homo sapiens RNA binding protein with multiple splicing 2 (RBPMS2), mRNA.	135							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						GGTCCCGTGCGATGAAGTGTG	0.577000														63			22		0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49094967	49094967	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:49094967C>T	uc002pjl.3	+	3	606	c.525C>T	c.(523-525)ttC>ttT	p.F175F	SULT2B1_uc002pjm.3_Silent_p.F160F	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	175					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CCGACCAGTTCCTGAGGGACT	0.627000														12			8		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67669846	67669846	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr14:67669846C>T	uc001xja.2	+	3	485	c.195C>T	c.(193-195)aaC>aaT	p.N65N	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	65										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		ACCTTCATAACCGAGCCAACT	0.483000														5			25		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42105899	42105899	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:42105899C>G	uc001zok.4	+	9	1204	c.918C>G	c.(916-918)aaC>aaG	p.N306K	MAPKBP1_uc010bci.3_Missense_Mutation_p.N300K|MAPKBP1_uc010udb.2_Missense_Mutation_p.N188K|MAPKBP1_uc001zoj.4_Missense_Mutation_p.N300K|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Intron	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	306										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCTTTTCAACCCCTCTAACC	0.602000														175			67		0	0	1	0	0
SNX24	28966	broad.mit.edu	37	5	122343409	122343409	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:122343409C>T	uc011cwo.2	+	6	644	c.475C>T	c.(475-477)Cat>Tat	p.H159Y	SNX24_uc010jcy.3_3'UTR	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	Homo sapiens sorting nexin 24 (SNX24), mRNA.	159					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		AGGAGTCCTCCATGGGATATT	0.328000														105			61		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107773620	107773620	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:107773620G>T	uc003ymm.4	-	1	845	c.791C>A	c.(790-792)cCt>cAt	p.P264H		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	264	Interaction with actin (By similarity).				positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TTCACTGAAAGGATTGAGCTT	0.502000														65			37		3.21399e-22	3.29463e-22	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112358356	112358356	+	Missense_Mutation	SNP	G	A	A	rs35973273		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:112358356G>A	uc003dzf.3	-	1	615	c.397C>T	c.(397-399)Cct>Tct	p.P133S	CCDC80_uc011bhv.2_Missense_Mutation_p.P133S|CCDC80_uc003dzg.3_Missense_Mutation_p.P133S|CCDC80_uc003dzh.1_Missense_Mutation_p.P133S	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	133										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						GACCCCGAAGGGAAACGCAAC	0.592000														102			55		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936926	21936926	+	RNA	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:21936926C>T	uc010tzj.1	-	0		c.3814G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		GCGTTCTGACCACGGTACTGC	0.498000														219			62		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53043718	53043718	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:53043718C>T	uc001sat.3	-	2	874	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	281	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GTCACAAAATCATTCTCAGCA	0.448000														49			25		0	0	1	0	0
MAPKAPK2	9261	broad.mit.edu	37	1	206902119	206902119	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:206902119C>T	uc001hem.2	+	1	554	c.344C>T	c.(343-345)cCg>cTg	p.P115L	MAPKAPK2_uc001hel.2_Missense_Mutation_p.P115L	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	115	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCCCAGTGCCCGCACATCGTA	0.587000														30			37		0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119004810	119004810	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:119004810G>A	uc001pvp.3	+	10	1400	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	HINFP_uc021qrj.1_Silent_p.K406K|HINFP_uc001pvq.3_Missense_Mutation_p.D386N|HINFP_uc001pvr.3_Missense_Mutation_p.D139N	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	386	Interaction with NPAT.|Required for activation of histone H4 transcription and contributes to DNA- binding.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGAACATGAAGATGGCTATAT	0.552000														73			24		0	0	1	0	0
TMEM14E	645843	broad.mit.edu	37	3	152058688	152058688	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:152058688C>T	uc010hvo.3	-	0	92	c.6G>A	c.(4-6)caG>caA	p.Q2Q	MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN	Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.	2						integral to membrane				lung(1)	1						CAGGGTCCATCTGCATTGTTC	0.498000														41			18		0	0	1	0	0
RASSF9	9182	broad.mit.edu	37	12	86198973	86198973	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:86198973C>T	uc001taf.1	-	1	1154	c.815G>A	c.(814-816)cGa>cAa	p.R272Q		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	272					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.R272*(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATATTTCAGTCGTTCTTCCAG	0.393000														79			70		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196620890	196620890	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:196620890C>T	uc002utj.4	-	61	11654	c.11553G>A	c.(11551-11553)gtG>gtA	p.V3851V	DNAH7_uc002uti.4_Silent_p.V334V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3851					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						GGAAGTCATTCACATAGCTGC	0.383000														45			30		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137763658	137763658	+	Silent	SNP	T	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:137763658T>C	uc003lcy.1	+	19	4836	c.4636T>C	c.(4636-4638)Ttg>Ctg	p.L1546L	KDM3B_uc010jew.1_Silent_p.L1202L|KDM3B_uc011cys.1_Silent_p.L578L	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1546	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCCTTTAGGGTTGATAACAGC	0.408000														144			111		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189901529	189901529	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:189901529C>T	uc002uqk.3	-	52	4201	c.3926_splice	c.e52-1	p.G1309_splice	COL5A2_uc010frx.3_Splice_Site_p.G885_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1309	Fibrillar collagen NC1.				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)			CCAGTATTCACCTATTTTTCA	0.328000														8			14		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94547420	94547420	+	Splice_Site	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:94547420G>A	uc011cdt.2	+	14	2452	c.2194_splice	c.e14-1	p.V732_splice	GRID2_uc011cdu.2_Splice_Site_p.V637_splice	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	732					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)	TTTTTCACAGGTAAAATATGG	0.303000														40			26		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	G	G	rs141732548	by1000genomes	TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000														66			6		0	0	1	0	0
SLC7A3	84889	broad.mit.edu	37	X	70146006	70146006	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:70146006G>T	uc004dyn.3	-	10	1817	c.1643C>A	c.(1642-1644)cCa>cAa	p.P548Q	SLC7A3_uc004dyo.3_Missense_Mutation_p.P548Q	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	548					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTCATTAGTGGGAGGAGAGG	0.453000														18			3		0.004672	0.00472153	1	1	0
HGSNAT	138050	broad.mit.edu	37	8	43054595	43054595	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:43054595G>C	uc003xpx.4	+	17	1839	c.1791G>C	c.(1789-1791)tgG>tgC	p.W597C		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	625					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCTTTCAGTGGAAGCTGAAGG	0.478000														26			12		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64604591	64604591	+	Silent	SNP	T	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr14:64604591T>C	uc001xgl.3	+	78	14963	c.14733T>C	c.(14731-14733)tgT>tgC	p.C4911C	SYNE2_uc001xgm.3_Silent_p.C4911C|SYNE2_uc021ruh.1_Silent_p.C4828C|SYNE2_uc010apy.3_Silent_p.C1296C|SYNE2_uc001xgn.3_5'Flank|SYNE2_uc021rui.1_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4911					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTGAGCTGTCCTGAATTAG	0.458000														18			36		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411976	51411976	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:51411976G>A	uc001nhi.2	-	0	473	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CCAACAGAAGGAAGCAAACCT	0.473000														88			41		0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73572997	73572997	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:73572997A>T	uc001vjc.3	+	16	2392	c.2087A>T	c.(2086-2088)cAt>cTt	p.H696L	PIBF1_uc010aep.3_Missense_Mutation_p.H155L	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	696						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTTAAGATGCATAGTAAACAT	0.343000														47			27		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475518	42475518	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:42475518G>A	uc002igw.2	-	7	4146	c.3927C>T	c.(3925-3927)ccC>ccT	p.P1309P	GPATCH8_uc002igv.2_Silent_p.P1231P|GPATCH8_uc010wiz.2_Silent_p.P1231P	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1309						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGAAGGTGATGGGCTGGCTTT	0.557000														77			53		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720248	140720248	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:140720248C>T	uc003ljk.2	+	0	1895	c.1710C>T	c.(1708-1710)gaC>gaT	p.D570D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.D570D	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	572			D -> G (in dbSNP:rs2074912).		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)			TCCCCACAGACGGTTCCACTG	0.642000														135			116		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182400246	182400246	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:182400246G>A	uc002unu.3	+	27	3854	c.3091G>A	c.(3091-3093)Gat>Aat	p.D1031N	ITGA4_uc002unv.3_Missense_Mutation_p.D276N	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	1031					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAAAGCAATGATGATTAAGG	0.308000														115			72		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174597	140174597	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:140174597C>T	uc003lhd.2	+	0	154	c.48C>T	c.(46-48)ctC>ctT	p.L16L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.L16L|PCDHAC2_uc011czy.2_Silent_p.L16L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	29					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)			CACGGCTGCTCTCGCTTCTGC	0.582000														70			48		0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36538010	36538010	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr22:36538010C>T	uc003aot.3	-	2	485	c.447G>A	c.(445-447)agG>agA	p.R149R	APOL3_uc003aoq.3_Silent_p.R78R|APOL3_uc003aor.3_Silent_p.R78R|APOL3_uc003aos.3_Silent_p.R78R|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	149					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						AAAACCATTCCCTAAACTGCT	0.453000														52			33		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92101085	92101085	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:92101085G>A	uc010tif.2	+	1	600	c.234G>A	c.(232-234)caG>caA	p.Q78Q		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	78						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGAGATATCAGATTGCGGCTC	0.428000														86			58		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283661	152283661	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:152283661C>T	uc001ezu.1	-	2	3737	c.3701G>A	c.(3700-3702)gGg>gAg	p.G1234E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1234	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACGTGACCCTGAGTGCCT	0.567000									Ichthyosis					477			173		0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015405	21015405	+	Missense_Mutation	SNP	C	T	T	rs143565471		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:21015405C>T	uc010sil.2	+	4	606	c.541C>T	c.(541-543)Cgt>Tgt	p.R181C	SLCO1B3_uc001rek.3_Missense_Mutation_p.R181C|SLCO1B3_uc001rel.3_Missense_Mutation_p.R181C|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	181					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GAATATGCTTCGTGGCATAGG	0.378000														91			34		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69034517	69034517	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:69034517G>A	uc010fdg.3	+	4	998	c.579G>A	c.(577-579)cgG>cgA	p.R193R	ARHGAP25_uc010yqk.2_Silent_p.R167R|ARHGAP25_uc010yql.2_Silent_p.R153R|ARHGAP25_uc002sev.3_Silent_p.R186R|ARHGAP25_uc002sew.3_Silent_p.R185R|ARHGAP25_uc002sex.3_Silent_p.R186R|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	192	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGCACGGCCGGAATGAAGAGG	0.572000														40			32		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20738088	20738088	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:20738088C>T	uc010kuh.3	+	16	2306	c.2069C>T	c.(2068-2070)cCt>cTt	p.P690L	ABCB5_uc003suw.4_Missense_Mutation_p.P245L	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	245	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CCTGAATGGCCTTTTGTGGTT	0.318000														31			52		0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60883138	60883139	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:60883138_60883139CC>TT	uc002ycn.3	+	7	998_999	c.918_919CC>TT	c.(916-921)gtccag>gtTTag	p.Q307*	ADRM1_uc002yco.3_Nonsense_Mutation_p.Q307*	NM_007002	NP_783163	Q16186	ADRM1_HUMAN	Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA.	307					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ACGCGGATGTCCAGGAGCGCCT	0.624000														16			16		0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56435546	56435546	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:56435546G>A	uc002iwf.3	-	7	3547	c.1591C>T	c.(1591-1593)Cgt>Tgt	p.R531C	RNF43_uc010wnv.2_Missense_Mutation_p.R490C|RNF43_uc002iwh.4_Missense_Mutation_p.R531C|RNF43_uc002iwg.4_Missense_Mutation_p.R531C|RNF43_uc010dcw.3_Missense_Mutation_p.R404C	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	531						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.P530P(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAAGGAACGAGGCCGAGAG	0.597000														83			64		0	0	1	0	0
SBSPON	157869	broad.mit.edu	37	8	73993254	73993254	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:73993254C>T	uc003xzf.3	-	2	614	c.409_splice	c.e2+1	p.V137_splice		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	137					immune response	extracellular region	polysaccharide binding|scavenger receptor activity										ACATCAGTACCATAGGTGTGC	0.572000														111			64		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93595812	93595812	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:93595812G>A	uc003drb.4	-	13	2209	c.1868C>T	c.(1867-1869)cCa>cTa	p.P623L	PROS1_uc010hoo.3_Missense_Mutation_p.P492L|PROS1_uc003dqz.4_Missense_Mutation_p.P492L	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	623	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GCAGATACCTGGAAGGCCACC	0.338000														57			43		0	0	1	0	0
KCNV1	27012	broad.mit.edu	37	8	110986181	110986181	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr8:110986181C>T	uc003ynr.4	-	0	1241	c.437G>A	c.(436-438)aGc>aAc	p.S146N	KCNV1_uc010mcw.3_Missense_Mutation_p.S146N	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	146						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GGAATCGATGCTGAGCTCATC	0.647000														17			7		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10427155	10427155	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:10427155G>A	uc010coi.3	-	35	5350	c.5222C>T	c.(5221-5223)tCc>tTc	p.S1741F	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S1741F|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1741					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGCATTTGGGAAATATCTGT	0.418000														57			50		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52910596	52910596	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:52910596C>T	uc001san.3	-	6	1427	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	KRT5_uc009zmh.3_Missense_Mutation_p.E422K	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	422	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGGCCAGCTCCCCACGCTGC	0.617000														59			62		0	0	1	0	0
TIGD4	201798	broad.mit.edu	37	4	153691655	153691655	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:153691655G>A	uc003imy.3	-	1	1323	c.502C>T	c.(502-504)Cct>Tct	p.P168S	TIGD4_uc021xtf.1_Missense_Mutation_p.P168S	NM_145720	NP_663772	Q8IY51	TIGD4_HUMAN	Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA.	168					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding|chromatin binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AAATAATAAGGAAGTACATTT	0.348000														56			32		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28609539	28609539	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr18:28609539C>T	uc002kwj.4	-	3	565	c.410G>A	c.(409-411)tGg>tAg	p.W137*	DSC3_uc002kwi.4_Nonsense_Mutation_p.W137*	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	137	Cadherin 1.				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)			AATAGGTGCCCATCTCCTCTT	0.413000														50			31		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73843167	73843167	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:73843167G>A	uc011dyh.2	+	10	1675	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	KCNQ5_uc011dyi.2_Missense_Mutation_p.R434Q|KCNQ5_uc010kat.3_Missense_Mutation_p.R415Q|KCNQ5_uc003pgk.3_Missense_Mutation_p.R424Q|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.R174Q	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	424					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTTAAGGAGCGAGTGCGCATG	0.502000														37			35		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160721115	160721115	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:160721115G>A	uc003lys.1	-	10	1730	c.1512C>T	c.(1510-1512)atC>atT	p.I504I	GABRB2_uc011deh.1_Silent_p.I305I|GABRB2_uc003lyr.1_Silent_p.I466I|GABRB2_uc003lyt.1_Silent_p.I466I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	504					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCAATAGACGATGTTGAAGA	0.458000														63			41		0	0	1	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648703	41648703	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:41648703G>A	uc003gvz.4	+	16	3030	c.2613G>A	c.(2611-2613)atG>atA	p.M871I	LIMCH1_uc003gwe.4_Missense_Mutation_p.M486I|LIMCH1_uc003gvu.4_Missense_Mutation_p.M486I|LIMCH1_uc003gvv.4_Missense_Mutation_p.M486I|LIMCH1_uc003gvw.4_Missense_Mutation_p.M486I|LIMCH1_uc003gvx.4_Missense_Mutation_p.M474I|LIMCH1_uc003gvy.4_Missense_Mutation_p.M315I|LIMCH1_uc003gwa.4_Missense_Mutation_p.M327I|LIMCH1_uc011byu.2_Missense_Mutation_p.M320I|LIMCH1_uc003gwc.4_Missense_Mutation_p.M332I|LIMCH1_uc003gwd.4_Missense_Mutation_p.M320I|LIMCH1_uc011byv.2_Missense_Mutation_p.M237I	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	486					actomyosin structure organization		actin binding|zinc ion binding	p.M486I(1)|p.M871I(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCAATCCCATGAAATACCTGC	0.493000														220			137		0	0	1	0	0
XCR1	2829	broad.mit.edu	37	3	46062675	46062675	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:46062675G>A	uc003cpe.3	-	2	989	c.765C>T	c.(763-765)atC>atT	p.I255I	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Silent_p.I255I|XCR1_uc021wwx.1_Silent_p.I255I	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	255					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGCTCCGGATGATCTGGGTCC	0.577000														39			32		0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146620	70146620	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:70146620G>A	uc003hej.3	+	0	404	c.402G>A	c.(400-402)aaG>aaA	p.K134K	UGT2B28_uc010ihr.3_Silent_p.K134K	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	134					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.K134N(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTTCAAATAAGAAAGTTATGA	0.328000														13			64		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130411013	130411013	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:130411013G>A	uc004ewe.4	-	13	2806	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	IGSF1_uc004ewd.3_Silent_p.I836I|IGSF1_uc022cdv.1_Silent_p.I827I|IGSF1_uc004ewf.2_Silent_p.I816I	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	836	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCACCGAAATGATTAGAAAGT	0.498000														92			207		0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32449071	32449071	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:32449071C>T	uc003zqw.4	+	19	2703	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	ACO1_uc003zqx.4_Nonsense_Mutation_p.Q850*|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	850					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AATGAAAGTCCAGGTCAAGGT	0.478000														8			19		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34498027	34498027	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:34498027C>T	uc003ojo.3	+	6	1054	c.796C>T	c.(796-798)Cat>Tat	p.H266Y	PACSIN1_uc003ojp.3_Missense_Mutation_p.H266Y	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	266					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CAGCTACATCCATGTGTACCG	0.617000														26			10		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122699	39122699	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:39122699G>A	uc002hvo.1	-	0	446	c.410C>T	c.(409-411)cCt>cTt	p.P137L	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	137	Linker 1.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ACATAGAACAGGGAGCTCTTT	0.423000														97			59		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42282347	42282347	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:42282347C>T	uc021sjp.1	-	13	1557	c.1557G>A	c.(1555-1557)aaG>aaA	p.K519K	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Silent_p.K143K	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	507	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTACATCATCCTTGACATTGA	0.527000														158			119		0	0	1	0	0
CGGBP1	8545	broad.mit.edu	37	3	88104750	88104750	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:88104750A>C	uc003dqs.3	-	3	889	c.377T>G	c.(376-378)gTc>gGc	p.V126G	CGGBP1_uc003dqt.3_Missense_Mutation_p.V126G|CGGBP1_uc003dqu.3_Missense_Mutation_p.V126G|CGGBP1_uc021xbe.1_Missense_Mutation_p.V126G	NM_001008390	NP_003654	Q9UFW8	CGBP1_HUMAN	Homo sapiens CGG triplet repeat binding protein 1 (CGGBP1), transcript variant 1, mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		GAAAGCACGGACTGCTGGGTG	0.478000														70			29		0	0	1	0	0
C12orf68	387856	broad.mit.edu	37	12	48578083	48578083	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:48578083G>A	uc001rrj.2	+	0	718	c.178G>A	c.(178-180)Gcc>Acc	p.A60T		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.	60						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						GGACGTGAGGGCCATGAGGGG	0.627000														39			24		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91027479	91027479	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr15:91027479C>T	uc002bpl.1	+	29	3917	c.3816C>T	c.(3814-3816)gtC>gtT	p.V1272V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1272	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTTGTGATGTCCCAGAGCTTC	0.423000														82			57		0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182909649	182909649	+	Silent	SNP	T	G	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:182909649T>G	uc001gpu.3	-	2	870	c.585A>C	c.(583-585)tcA>tcC	p.S195S	SHCBP1L_uc001gpv.3_Silent_p.S76S|SHCBP1L_uc010pnz.2_Silent_p.S53S|SHCBP1L_uc001gpw.3_5'UTR	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	267										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGAAACGAGATGATGAGTCTT	0.348000														41			17		0	0	1	0	0
MYEOV	26579	broad.mit.edu	37	11	69063347	69063347	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:69063347C>T	uc001oov.3	+	2	880	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Silent_p.L144L|MYEOV_uc001oow.3_Silent_p.L86L	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	144										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		ACAAGGCACTCTGTGTGGCAC	0.622000														203			94		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53556371	53556371	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:53556371C>T	uc021onn.1	-	7	1484	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	SLC1A7_uc021onm.1_Missense_Mutation_p.G308D|SLC1A7_uc001cux.3_5'UTR|SLC1A7_uc001cuy.3_Missense_Mutation_p.G380D|SLC1A7_uc021ono.1_Intron	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	410						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GAGCGCAGTGCCGTCCATGTT	0.597000														28			3		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6080950	6080950	+	Splice_Site	SNP	T	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr18:6080950T>A	uc002kmz.4	-	16	1534	c.1374_splice	c.e16-1	p.R458_splice	L3MBTL4_uc002kmy.4_Splice_Site_p.R458_splice|L3MBTL4_uc010dkt.3_Splice_Site_p.R458_splice	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	458					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GCTGTACAAGTCTGGGCAAAG	0.343000														3			7		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12940065	12940065	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:12940065A>T	uc004cvd.3	+	2	3130	c.2960A>T	c.(2959-2961)gAt>gTt	p.D987V	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.D969V	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	969	TIR.				I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGGCTAATGGATGAGAACATG	0.393000														22			59		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66935637	66935637	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:66935637T>A	uc001stk.3	-	2	471	c.230A>T	c.(229-231)aAg>aTg	p.K77M	GRIP1_uc010sta.1_Missense_Mutation_p.K21M|GRIP1_uc001stm.3_Missense_Mutation_p.K77M|GRIP1_uc001stl.1_Missense_Mutation_p.K21M	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	77	PDZ 1.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TACTCTTGGCTTGCCATCCTT	0.468000														141			115		0	0	1	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12943124	12943124	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:12943124T>A	uc001aun.2	-	1	163	c.92A>T	c.(91-93)gAg>gTg	p.E31V		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	31										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCAGCTCCTCCAGGGTGGA	0.597000														132			100		0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154216955	154216955	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:154216955G>A	uc003inh.2	+	5	1362	c.1277G>A	c.(1276-1278)gGg>gAg	p.G426E	TRIM2_uc003ing.2_Missense_Mutation_p.G399E	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	399						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGAAGGAAGGGGACTTTACC	0.557000														64			31		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629357	47629357	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:47629357G>A	uc001rpq.3	+	1	1036	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	FAM113B_uc001rpn.3_Missense_Mutation_p.E171K|FAM113B_uc021qxi.1_Missense_Mutation_p.E171K	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	171							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					TGTGGGCGAGGAAGTCACCGG	0.617000														41			29		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2559848	2559848	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr20:2559848G>A	uc002wgf.1	+	5	717	c.702G>A	c.(700-702)tgG>tgA	p.W234*	TMC2_uc002wgg.1_Nonsense_Mutation_p.W218*|TMC2_uc010zpw.1_Nonsense_Mutation_p.W66*|TMC2_uc010zpx.1_Nonsense_Mutation_p.W65*	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	234	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTATCCCCTGGGAAATGAAGA	0.368000														39			21		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802931	170802931	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:170802931C>T	uc003fhh.2	-	24	3319	c.2974G>A	c.(2974-2976)Gag>Aag	p.E992K	TNIK_uc003fhi.2_Missense_Mutation_p.E937K|TNIK_uc003fhj.2_Missense_Mutation_p.E963K|TNIK_uc003fhk.2_Missense_Mutation_p.E984K|TNIK_uc003fhl.2_Missense_Mutation_p.E908K|TNIK_uc003fhm.2_Missense_Mutation_p.E929K|TNIK_uc003fhn.2_Missense_Mutation_p.E955K|TNIK_uc003fho.2_Missense_Mutation_p.E900K|TNIK_uc003fhg.2_Missense_Mutation_p.E170K|TNIK_uc003fhp.3_5'Flank	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	992	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTCATCCTCTTCATCTTCA	0.478000														13			11		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126139294	126139294	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:126139294G>A	uc004bnx.1	+	12	3903	c.3811G>A	c.(3811-3813)Gag>Aag	p.E1271K		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	1271						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGCCCGGCTGGAGATGGACAG	0.647000														1			12		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	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					49			86		0	0	1	0	0
MSH3	4437	broad.mit.edu	37	5	79968679	79968679	+	Splice_Site	SNP	T	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:79968679T>A	uc003kgz.3	+	6	1280	c.1027_splice	c.e6+2	p.D343_splice		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	343					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TTGGAGAAGATATCCTTTTTG	0.378000								Mismatch excision repair (MMR)						73			34		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039236	248039236	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:248039236G>A	uc001ido.3	+	5	954	c.906G>A	c.(904-906)ccG>ccA	p.P302P	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	302	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGGCGCACCCGAGTCTGCTCT	0.562000														48			23		0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5466801	5466801	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:5466801C>T	uc003zje.3	+	5	930	c.822C>T	c.(820-822)atC>atT	p.I274I	PLGRKT_uc003zjd.3_Intron|CD274_uc010mhn.3_Non-coding_Transcript|CD274_uc003zjf.3_Silent_p.I160I	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	Homo sapiens CD274 molecule (CD274), mRNA.	274					T cell costimulation|cell proliferation|cell surface receptor linked signaling pathway|immune response	endomembrane system|integral to membrane	receptor activity	p.I274I(4)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		AATGTGGCATCCAAGATACAA	0.343000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									11			25		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34024429	34024429	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:34024429C>T	uc003oir.4	-	4	1423	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N	GRM4_uc011dsn.2_Intron|GRM4_uc010jvh.3_Missense_Mutation_p.D354N|GRM4_uc010jvi.3_Missense_Mutation_p.D46N|GRM4_uc003oio.3_Missense_Mutation_p.D46N|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.D214N|GRM4_uc003oiq.3_Missense_Mutation_p.D221N|GRM4_uc011dsm.2_Missense_Mutation_p.D185N	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	354					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CGGTTGTTGTCCAGCGTGCGG	0.637000														16			11		0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39278649	39278649	+	Silent	SNP	T	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr4:39278649T>C	uc003gtv.3	+	33	3880	c.3726T>C	c.(3724-3726)gaT>gaC	p.D1242D	WDR19_uc011byi.2_Silent_p.D1082D	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	1242					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GGAGACCCGATATATCTGAGA	0.428000														156			8		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544427	82544427	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr7:82544427G>A	uc003uhx.2	-	6	13164	c.12875C>T	c.(12874-12876)tCc>tTc	p.S4292F	PCLO_uc003uhv.2_Missense_Mutation_p.S4292F|PCLO_uc010lec.3_Missense_Mutation_p.S1257F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4223					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						aggtctggaggaaggtctgga	0.478000														25			7		0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121711906	121711907	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:121711906_121711907GG>AA	uc001tzv.3	-	1	1252_1253	c.423_424CC>TT	c.(421-426)ccccgg>ccTTgg	p.R142W	CAMKK2_uc001tzt.3_Missense_Mutation_p.R142W|CAMKK2_uc001tzu.3_Missense_Mutation_p.R142W|CAMKK2_uc001tzw.3_Missense_Mutation_p.R142W|CAMKK2_uc001tzx.3_Missense_Mutation_p.R142W|CAMKK2_uc001tzy.3_Missense_Mutation_p.R142W|CAMKK2_uc001uaa.1_Missense_Mutation_p.R142W|CAMKK2_uc001uab.3_Missense_Mutation_p.R142W|CAMKK2_uc001uac.3_Missense_Mutation_p.R142W|CAMKK2_uc001uad.2_Missense_Mutation_p.R142W	NM_006549	NP_006540	Q96RR4	KKCC2_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 2, beta (CAMKK2), transcript variant 1, mRNA.	142					MAPKKK cascade|calcium-mediated signaling|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTCGGCCGCCGGGGCAGCCGAG	0.693000														6			6		0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18889205	18889205	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr12:18889205C>T	uc021qvx.1	-	2	276	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	PLCZ1_uc001rdv.4_5'UTR|PLCZ1_uc001rdw.4_5'UTR|CAPZA3_uc001rdy.3_5'Flank	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	29					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TCTAATTTTTCAAGTAACCTC	0.353000														17			19		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900152	151900153	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:151900152_151900153GG>AA	uc022chj.1	-	0	648_649	c.648_649CC>TT	c.(646-651)gcccct>gcTTct	p.P217S	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.P217S|MAGEA12_uc022chi.1_Missense_Mutation_p.P217S|MAGEA12_uc004fgc.3_Missense_Mutation_p.P217S	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	217	MAGE.							p.P217H(2)|p.P217P(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCTCAGGGGCACAGTCGC	0.564000														51			134		0	0	1	0	0
ZNF169	169841	broad.mit.edu	37	9	97062125	97062125	+	Silent	SNP	T	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:97062125T>C	uc022bki.1	+	3	343	c.288T>C	c.(286-288)ttT>ttC	p.F96F	ZNF169_uc004aum.1_Silent_p.F95F	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	95				FQPSFPHLV -> IPAKFSPPG (in Ref. 5; AAA70188).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGCCAAGTTTTCCCCACCTGG	0.507000														15			66		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160963809	160963809	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr6:160963809T>G	uc003qtl.3	-	34	5550	c.5430A>C	c.(5428-5430)caA>caC	p.Q1810H		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4318	Kringle 16.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCGGCTCCACTTGAGGCTTCC	0.498000														23			43		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231956	40231956	+	Splice_Site	SNP	T	C	C			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr3:40231956T>C	uc003cka.3	+	10	1800	c.1665_splice	c.e10+2	p.Q555_splice	MYRIP_uc010hhu.3_Splice_Site|MYRIP_uc010hhv.3_Splice_Site_p.Q555_splice|MYRIP_uc010hhw.3_Splice_Site_p.Q466_splice|MYRIP_uc011ayz.2_Splice_Site_p.Q368_splice|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	555	Actin-binding.|Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACACATCAGGTAATGGAAGTG	0.557000														24			20		0	0	1	0	0
SULT1C3	442038	broad.mit.edu	37	2	108881360	108881360	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:108881360A>T	uc010ywo.2	+	5	701	c.701A>T	c.(700-702)tAt>tTt	p.Y234F		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	234						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAAATCATCTATCACACCTCC	0.413000														69			40		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171766218	171766218	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:171766218G>A	uc003mbr.3	-	12	2062	c.1891C>T	c.(1891-1893)Ccc>Tcc	p.P631S		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	631					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATTCTGGGGAGTGGCATCT	0.562000														53			41		0	0	1	0	0
METTL22	79091	broad.mit.edu	37	16	8729085	8729085	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:8729085G>A	uc002cyz.3	+	4	892	c.616G>A	c.(616-618)Gga>Aga	p.G206R	METTL22_uc021tcq.1_Non-coding_Transcript	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	Homo sapiens methyltransferase like 22 (METTL22), mRNA.	206							methyltransferase activity			large_intestine(5)|lung(4)	9						CCTCTTCCGAGGATGTACAGC	0.622000														37			46		0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38122030	38122030	+	Silent	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:38122030C>T	uc002htl.1	+	1	208	c.90C>T	c.(88-90)ttC>ttT	p.F30F	GSDMA_uc002htm.1_Silent_p.F30F	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	30					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TCATCGACTTCAAGCGCTTCC	0.592000														15			8		0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29557308	29557308	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr1:29557308G>A	uc001brq.1	-	0	147	c.111C>T	c.(109-111)tcC>tcT	p.S37S	MECR_uc001brp.1_5'UTR|MECR_uc001brt.1_5'UTR|MECR_uc010ofz.1_Silent_p.S37S	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CAGGCTCGGCGGATGCGGAGT	0.711000														7			9		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908101	139908101	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr5:139908101C>T	uc003lfs.2	+	28	5724	c.5570C>T	c.(5569-5571)gCc>gTc	p.A1857V	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.A1857V|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.A596V|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.A495V|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.A292V|ANKHD1-EIF4EBP3_uc003lfx.1_5'UTR	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1857						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCATTTTGCCCTGCTGGCT	0.473000														114			74		0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33433426	33433426	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr17:33433426G>A	uc010wcd.1	-	5	871	c.615C>T	c.(613-615)ctC>ctT	p.L205L	RFFL_uc002hiq.2_Silent_p.L26L|RAD51D_uc010ctj.2_5'UTR|RFFL_uc002hir.2_Silent_p.L185L|RFFL_uc010wce.1_Silent_p.L66L|RFFL_uc002hit.2_Silent_p.L66L|RFFL_uc002hiu.2_Silent_p.L8L|RFFL_uc002his.2_Silent_p.L73L|RFFL_uc010ctk.2_Silent_p.L66L|RFFL_uc010wcf.1_Non-coding_Transcript|RFFL_uc002hiw.1_Non-coding_Transcript|RFFL_uc002hiv.1_Non-coding_Transcript|RFFL_uc010ctl.1_Non-coding_Transcript|RFFL_uc010ctm.1_Non-coding_Transcript	NM_001142571	NP_001136043	Q8WZ73	RFFL_HUMAN	Homo sapiens RAD51 homolog D (S. cerevisiae) (RAD51D), transcript variant 6, mRNA.	0					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CAGTGCCTCGGAGCTCCTGCA	0.547000														18			7		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119976856	119976856	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr9:119976856C>T	uc004bjt.2	-	2	897	c.796G>A	c.(796-798)Gag>Aag	p.E266K	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	266						integral to membrane		p.R265Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGAAGCTCTCCCGCGCCTGG	0.592000														13			53		0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113975899	113975899	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr13:113975899C>G	uc001vtm.1	+	7	1252	c.971C>G	c.(970-972)tCc>tGc	p.S324C	LAMP1_uc010tka.1_Missense_Mutation_p.S271C	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	324	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCCAACGGCTCCCTGCGAGCG	0.597000														68			38		0	0	1	0	0
CD2BP2	10421	broad.mit.edu	37	16	30365005	30365005	+	Silent	SNP	G	A	A			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr16:30365005G>A	uc002dxr.3	-	3	745	c.492C>T	c.(490-492)ctC>ctT	p.L164L	CD2BP2_uc002dxs.3_Silent_p.L164L	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	164					assembly of spliceosomal tri-snRNP	U5 snRNP|cytoplasm|nucleoplasm	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						TAGGCAATAGGAGCTCCAAAA	0.647000														30			11		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26359273	26359273	+	Silent	SNP	T	G	G			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr10:26359273T>G	uc001isn.2	+	13	1662	c.1302T>G	c.(1300-1302)ggT>ggG	p.G434G	MYO3A_uc009xko.1_Silent_p.G434G|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.G434G	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	434	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGAAAGTGGTGCTGGAAAGA	0.338000														10			23		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227892726	227892726	+	Splice_Site	SNP	C	T	T			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr2:227892726C>T	uc021vxr.1	-	41	4075	c.3974_splice	c.e41-1	p.G1325_splice	COL4A4_uc021vxs.1_Splice_Site_p.G1325_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1325	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCACTGGTCCTTAAAAAAAA	0.463000														18			9		0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967646	4967646	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr11:4967646delT	uc010qys.2	-	0	685	c.685delA	c.(685-687)attfs	p.I229fs		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGATGCAATTCCCAGTACA	0.433													---	16	---	---	34	---					
AKAP8L	26993	broad.mit.edu	37	19	15521344	15521345	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chr19:15521344_15521345delGG	uc002naw.1	-	1	173_174	c.74_75delCC	c.(73-75)cccfs	p.P25fs	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Frame_Shift_Del_p.P25fs|AKAP8L_uc002nay.1_Frame_Shift_Del_p.P25fs	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	25						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						AATCACAGGTGGGCTGAGCGCT	0.480													---	4	---	---	2	---					
NRK	203447	broad.mit.edu	37	X	105161604	105161604	+	Frame_Shift_Del	DEL	A	-	-			TCGA-ER-A42K-06A-11D-A24R-08	TCGA-ER-A42K-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	546e263b-de06-429c-9865-7c1bc4cb54bc	7215a6fc-1c85-462e-9306-f16c4f694cfb	g.chrX:105161604delA	uc004emd.3	+	15	2755	c.2452delA	c.(2452-2454)aagfs	p.K818fs	NRK_uc010npc.1_Frame_Shift_Del_p.K486fs	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	818							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACAAGCTCAGAAGCCCATTGA	0.423										HNSCC(51;0.14)			---	4	---	---	2	---