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
PHF21A	51317	broad.mit.edu	37	11	45991416	45991416	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr11:45991416G>T	uc001ncc.4	-	7	1273	c.649C>A	c.(649-651)Cag>Aag	p.Q217K	PHF21A_uc001ncb.4_Missense_Mutation_p.Q218K|PHF21A_uc009ykx.3_Missense_Mutation_p.Q218K|PHF21A_uc001nce.2_Missense_Mutation_p.Q218K|PHF21A_uc001nca.1_5'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	217					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GGGATAAACTGTGGTACTTTG	0.423000														17			6		2.0095e-06	2.33102e-06	0.001984	1	0
MYH8	4626	broad.mit.edu	37	17	10307679	10307679	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr17:10307679C>T	uc002gmm.2	-	21	2751	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	886					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATTTTTCTCTTTTAAGAGA	0.408000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					48			75		0	0	0.014410	0	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350174	51350174	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr15:51350174G>A	uc001zyy.3	-	2	883	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	261										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		GGGTGGAGAGGAACTCCACAT	0.517000														43			43		0	0	0.010771	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129469	248129469	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:248129469C>G	uc010pzd.2	+	0	836	c.836C>G	c.(835-837)tCc>tGc	p.S279C	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S279S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGGCCACACTCCTTGCGTTCC	0.483000														59			18		0	0	0.004990	0	0
ARAP3	64411	broad.mit.edu	37	5	141051859	141051859	+	Silent	SNP	G	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr5:141051859G>T	uc003llm.3	-	9	1473	c.1395C>A	c.(1393-1395)gcC>gcA	p.A465A	ARAP3_uc011dbe.2_Silent_p.A127A|ARAP3_uc003lln.3_Silent_p.A387A|ARAP3_uc003llo.1_Silent_p.A465A	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	465	PH 2.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCCAGACTCGGCTGTGAAGC	0.627000														50			27		7.38237e-10	8.76386e-10	0.006320	1	0
GPR98	84059	broad.mit.edu	37	5	89939773	89939773	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr5:89939773G>A	uc003kju.3	+	13	2803	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	903					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGATAAATGAAAGCAAAGG	0.294000														3			12		0	0	0.013537	0	0
BC073927	0	broad.mit.edu	37	11	71513918	71513918	+	RNA	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr11:71513918A>G	uc001oqx.1	-	2		c.682T>C								Homo sapiens cDNA clone IMAGE:5297769.																		TGAAGTTCACAGCACACGCAG	0.572000														38			3		0	0	0.004482	0	0
HJURP	55355	broad.mit.edu	37	2	234750609	234750609	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:234750609G>A	uc002vvg.3	-	7	883	c.817C>T	c.(817-819)Cgg>Tgg	p.R273W	HJURP_uc010znd.2_Missense_Mutation_p.R212W|HJURP_uc010zne.2_Missense_Mutation_p.R181W	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	273					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CTCAACAGCCGGCTCATGGAG	0.493000														34			91		0	0	0.014410	0	0
DSCAM	1826	broad.mit.edu	37	21	41505858	41505858	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr21:41505858C>T	uc002yyq.1	-	18	3937	c.3485G>A	c.(3484-3486)aGc>aAc	p.S1162N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1162	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACCTGGATGCTGTAGTTGGT	0.567000														58			28		0	0	0.005443	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97393334	97393334	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr10:97393334G>A	uc001kkz.3	-	5	873	c.631C>T	c.(631-633)Ctt>Ttt	p.L211F	ALDH18A1_uc001kky.3_Missense_Mutation_p.L211F|ALDH18A1_uc010qog.2_Missense_Mutation_p.L100F|ALDH18A1_uc010qoh.2_5'UTR	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	211	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity	p.L210L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TTCATTCTAAGGAGTTCATGA	0.438000														77			38		0	0	0.005524	0	0
PGC	5225	broad.mit.edu	37	6	41712139	41712139	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr6:41712139G>A	uc003ora.2	-	2	391	c.324C>T	c.(322-324)gcC>gcT	p.A108A	PGC_uc021yzm.1_Silent_p.A108A	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	108					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	p.A108T(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			ACTCACTGCAGGCCTGGCTCT	0.612000														70			71		0	0	0.014410	0	0
ARGFX	503582	broad.mit.edu	37	3	121305296	121305296	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr3:121305296C>T	uc003eef.3	+	4	892	c.797C>T	c.(796-798)tCc>tTc	p.S266F		NM_001012659	NP_001012677	A6NJG6	ARGFX_HUMAN	Homo sapiens arginine-fifty homeobox (ARGFX), mRNA.	266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GGACAGGGTTCCTCTCTCAGC	0.478000														70			47		0	0	0.011902	0	0
POGZ	23126	broad.mit.edu	37	1	151396447	151396447	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:151396447T>G	uc001eyd.2	-	8	1816	c.1501A>C	c.(1501-1503)Aaa>Caa	p.K501Q	POGZ_uc021oyq.1_Missense_Mutation_p.K448Q|POGZ_uc010pdb.2_Missense_Mutation_p.K492Q|POGZ_uc010pdc.2_Missense_Mutation_p.K439Q|POGZ_uc009wmv.2_Missense_Mutation_p.K406Q|POGZ_uc001eyf.2_Missense_Mutation_p.K448Q|POGZ_uc010pdd.2_Intron	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	501					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTTAGCCTTTTGGTACAATGT	0.398000														100			21		0	0	0.014323	0	0
CDRT15P1	94158	broad.mit.edu	37	17	13927900	13927900	+	RNA	SNP	T	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr17:13927900T>C	uc002god.1	+	0		c.86T>C								Homo sapiens CMT1A duplicated region transcript 15 pseudogene 1 (CDRT15P1), non-coding RNA.																		GAGCCTTTTCTGACGATGCCG	0.572000														52			3		0	0	0.009096	0	0
EMP2	2013	broad.mit.edu	37	16	10626808	10626808	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr16:10626808G>A	uc002czx.3	-	4	652	c.458C>T	c.(457-459)aCc>aTc	p.T153I		NM_001424	NP_001415	P54851	EMP2_HUMAN	Homo sapiens epithelial membrane protein 2 (EMP2), mRNA.	153					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCTGATGAAGGTGCAGGCGAA	0.522000														76			34		0	0	0.003755	0	0
SPINK4	27290	broad.mit.edu	37	9	33246632	33246632	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr9:33246632G>A	uc003zsh.3	+	2	132	c.121G>A	c.(121-123)Gta>Ata	p.V41I		NM_014471	NP_055286	O60575	ISK4_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 4 (SPINK4), mRNA.	41	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			TGAACACATGGTAGAGTCTCC	0.557000														73			47		0	0	0.014410	0	0
NLRP4	147945	broad.mit.edu	37	19	56363606	56363606	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:56363606G>A	uc002qmd.4	+	1	582	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	54	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATCCCGGGAAGAACTTGCAAA	0.403000														75			55		0	0	0.014410	0	0
ZNF271	10778	broad.mit.edu	37	18	32887691	32887691	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr18:32887691G>A	uc002kyq.4	+	2	2095	c.1103G>A	c.(1102-1104)aGc>aAc	p.S368N	ZNF271_uc002kyp.4_Missense_Mutation_p.S368N|ZNF271_uc002kyr.4_Missense_Mutation_p.S368N					Homo sapiens zinc finger protein 271 (ZNF271), transcript variant 1, non-coding RNA.											large_intestine(3)|lung(9)	12						GTTCAGTGCAGCAGAAGTTGT	0.428000														45			9		0	0	0.006214	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112234	64112234	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr11:64112234G>A	uc001nzy.3	+	13	2270	c.2221G>A	c.(2221-2223)Gct>Act	p.A741T	CCDC88B_uc009ypo.2_Missense_Mutation_p.A738T|CCDC88B_uc001nzz.1_Missense_Mutation_p.A390T	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	741					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGGAGAAAGGCTGAGGCCCT	0.662000														23			23		0	0	0.014323	0	0
BAIAP3	8938	broad.mit.edu	37	16	1392990	1392990	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr16:1392990A>G	uc002clk.2	+	13	1501	c.1343A>G	c.(1342-1344)aAc>aGc	p.N448S	BAIAP3_uc010uuz.2_Missense_Mutation_p.N413S|BAIAP3_uc010uva.2_Missense_Mutation_p.N385S|BAIAP3_uc021tag.1_Missense_Mutation_p.N390S|BAIAP3_uc002clj.3_Missense_Mutation_p.N430S|BAIAP3_uc010uvc.1_Missense_Mutation_p.N377S	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	448					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCCCAGAGCAACCTGTCACCC	0.687000														45			23		0	0	0.004656	0	0
TNC	3371	broad.mit.edu	37	9	117848377	117848377	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr9:117848377C>T	uc004bjj.4	-	2	2045	c.1633G>A	c.(1633-1635)Ggg>Agg	p.G545R	TNC_uc010mvf.3_Missense_Mutation_p.G545R|TNC_uc022bmj.1_Missense_Mutation_p.G545R	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	545	EGF-like 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACGCACTGCCCATTCACACAG	0.592000														42			21		0	0	0.010504	0	0
MYH13	8735	broad.mit.edu	37	17	10212567	10212567	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr17:10212567T>G	uc002gmk.1	-	34	5243	c.5153A>C	c.(5152-5154)cAg>cCg	p.Q1718P		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1718					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTGCAGGAGCTGCACGCGGTC	0.672000														54			15		0	0	0.004007	0	0
TRPM6	140803	broad.mit.edu	37	9	77370293	77370293	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr9:77370293T>C	uc004ajl.1	-	27	5120	c.4882A>G	c.(4882-4884)Aca>Gca	p.T1628A	TRPM6_uc004ajk.1_Missense_Mutation_p.T1623A|TRPM6_uc022bib.1_Missense_Mutation_p.T1623A|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.T579A|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.T584A	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1628					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGGACACTGTGAACCAGTTC	0.458000														126			30		0	0	0.012213	0	0
FCRL3	115352	broad.mit.edu	37	1	157650538	157650538	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:157650538C>T	uc001fqz.4	-	12	2272	c.1980G>A	c.(1978-1980)ccG>ccA	p.P660P	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.P386P|FCRL3_uc001frb.3_Silent_p.P660P|FCRL3_uc001frc.1_Silent_p.P660P	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	660			P -> L (in dbSNP:rs944627).			integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGGAATAAATCGGGTTGCTAT	0.413000														88			46		0	0	0.014410	0	0
VSTM1	284415	broad.mit.edu	37	19	54545555	54545555	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:54545555T>G	uc002qcw.4	-	4	639	c.463A>C	c.(463-465)Atc>Ctc	p.I155L	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Missense_Mutation_p.I67L|VSTM1_uc002qcx.4_Intron|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.I35L	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	155						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CTGTAGATGATGAAGACTGAG	0.507000														32			25		0	0	0.003954	0	0
KDM4D	55693	broad.mit.edu	37	11	94731152	94731152	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr11:94731152C>T	uc021qow.1	+	0	616	c.616C>T	c.(616-618)Ctt>Ttt	p.L206F	KDM4D_uc001pfe.3_Missense_Mutation_p.L206F	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	206	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			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTACCTGCACCTTGGGGAGCC	0.557000														24			70		0	0	0.014410	0	0
AKAP4	8852	broad.mit.edu	37	X	49958737	49958737	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chrX:49958737A>C	uc004dow.1	-	4	751	c.627T>G	c.(625-627)gaT>gaG	p.D209E	AKAP4_uc004dou.1_Missense_Mutation_p.D200E|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.D31E	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	209					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AACATTCTCCATCAGGGGAAA	0.443000														58			150		0	0	0.014410	0	0
FBRS	64319	broad.mit.edu	37	16	30680186	30680186	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr16:30680186C>T	uc002dzd.4	+	10	955	c.692C>T	c.(691-693)cCt>cTt	p.P231L	FBRS_uc002dzc.4_Missense_Mutation_p.P143L	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	231										ovary(1)	1			Colorectal(24;0.103)			CACCGCAGTCCTCTGACCTTT	0.701000														12			11		0	0	0.010729	0	0
TRPM2	7226	broad.mit.edu	37	21	45802618	45802618	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr21:45802618G>A	uc010gpt.1	+	8	1333	c.1233G>A	c.(1231-1233)cgG>cgA	p.R411R	TRPM2_uc002zet.1_Silent_p.R411R|TRPM2_uc002zeu.1_Silent_p.R411R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.R411R|TRPM2_uc002zex.1_Silent_p.R197R	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	411						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ATATCGTCCGGAGGCGGCAGC	0.562000														19			16		0	0	0.004007	0	0
RERE	473	broad.mit.edu	37	1	8420555	8420556	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:8420555_8420556GG>AA	uc001ape.3	-	18	3821_3822	c.3011_3012CC>TT	c.(3010-3012)ccc>cTT	p.P1004L	RERE_uc001apf.3_Missense_Mutation_p.P1004L|RERE_uc010nzx.1_Missense_Mutation_p.P736L|RERE_uc001apd.3_Missense_Mutation_p.P450L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1004	Pro-rich.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCAGCCCGGGGGGCTGGGCGGG	0.723000														3			9		0	0	0.004672	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227799	112227799	+	Missense_Mutation	SNP	A	G	G	rs712665	by1000genomes	TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr5:112227799A>G	uc021ycm.1	+	0	491	c.463A>G	c.(463-465)Agt>Ggt	p.S155G	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						TTTAGAAAATAGTACCACATG	0.433000														56			4		0	0	0.000602	0	0
OR4L1	122742	broad.mit.edu	37	14	20528800	20528800	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr14:20528800C>T	uc001vwn.1	+	0	597	c.597C>T	c.(595-597)gtC>gtT	p.V199V		NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily L, member 1 (OR4L1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AATTATTTGTCATTGCTGACA	0.423000														90			55		0	0	0.014410	0	0
OR2J2	26707	broad.mit.edu	37	6	29141738	29141738	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr6:29141738G>A	uc011dlm.2	+	0	428	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTTGCACTGGGAATCACAGAG	0.488000														149			125		0	0	0.014410	0	0
EVPL	2125	broad.mit.edu	37	17	74011093	74011093	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr17:74011093T>C	uc010wss.1	-	16	2420	c.2192A>G	c.(2191-2193)aAc>aGc	p.N731S	EVPL_uc002jqi.2_Missense_Mutation_p.N709S|EVPL_uc010wst.1_Missense_Mutation_p.N179S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	709	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCCTGGAAGTTGTTCTGCAG	0.682000														24			69		0	0	0.014410	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149206305	149206305	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr5:149206305G>A	uc003lrc.3	+	2	413	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	PPARGC1B_uc003lrb.2_Missense_Mutation_p.V108M|PPARGC1B_uc003lrd.3_Missense_Mutation_p.V108M|PPARGC1B_uc021yfr.1_Missense_Mutation_p.V83M|PPARGC1B_uc003lre.1_Missense_Mutation_p.V87M|PPARGC1B_uc003lrf.3_Missense_Mutation_p.V87M	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	108					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TGAAGATGACGTGGGTCTGGC	0.622000														41			38		0	0	0.004878	0	0
TEKT1	83659	broad.mit.edu	37	17	6722611	6722611	+	Missense_Mutation	SNP	T	A	A	rs143710127		TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr17:6722611T>A	uc002gdt.3	-	2	367	c.257A>T	c.(256-258)aAt>aTt	p.N86I	TEKT1_uc010vth.2_Intron	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	86					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ATCAGTTACATTCACAAGCTG	0.458000														98			15		0	0	0.004990	0	0
GLT8D2	83468	broad.mit.edu	37	12	104390557	104390557	+	Missense_Mutation	SNP	C	T	T	rs7133444		TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr12:104390557C>T	uc001tkh.1	-	7	1113	c.556G>A	c.(556-558)Gat>Aat	p.D186N	GLT8D2_uc001tki.1_Missense_Mutation_p.D186N	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	186						integral to membrane	transferase activity, transferring glycosyl groups	p.D186N(2)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAGGGCAAATCGCAGTCATCT	0.502000														30			60		0	0	0.014410	0	0
FILIP1	27145	broad.mit.edu	37	6	76023848	76023848	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr6:76023848T>C	uc010kbe.3	-	5	2239	c.1709A>G	c.(1708-1710)aAc>aGc	p.N570S	FILIP1_uc003phy.1_Missense_Mutation_p.N567S|FILIP1_uc003phz.3_Missense_Mutation_p.N468S|FILIP1_uc003pia.3_Missense_Mutation_p.N567S|FILIP1_uc003pib.1_Missense_Mutation_p.N319S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	567										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTTGTCAAGTTGTATACTTT	0.313000														49			22		0	0	0.012319	0	0
VWC2L	402117	broad.mit.edu	37	2	215279277	215279277	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:215279277G>A	uc002vet.2	+	1	490	c.360G>A	c.(358-360)ggG>ggA	p.G120G	VWC2L_uc010zjl.1_Silent_p.G120G	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	120	VWFC 2.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						AATATCACGGGAAAAATTACA	0.358000														4			16		0	0	0.006122	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140801461	140801461	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr5:140801461C>T	uc003lkq.2	+	0	925	c.667C>T	c.(667-669)Cga>Tga	p.R223*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Nonsense_Mutation_p.R223*|PCDHGC5_uc003lkp.2_Nonsense_Mutation_p.R223*	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R222H(1)		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)			CGATCCCATCCGAAAGGGCGC	0.522000														24			44		0	0	0.008740	0	0
FREM1	158326	broad.mit.edu	37	9	14824925	14824925	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr9:14824925C>T	uc003zlm.3	-	11	2763	c.1947G>A	c.(1945-1947)cgG>cgA	p.R649R	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	649			R -> W (in BNAR).		cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAACCAAATGCCGAGAAACTC	0.393000														16			21		0	0	0.012319	0	0
MDN1	23195	broad.mit.edu	37	6	90468045	90468045	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr6:90468045G>A	uc003pnn.1	-	18	2747	c.2631C>T	c.(2629-2631)ttC>ttT	p.F877F	MDN1_uc003pno.1_Silent_p.F296F	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	877					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAAATAAACGGAAGTCAGGAT	0.443000														9			12		0	0	0.013537	0	0
CACNA1S	779	broad.mit.edu	37	1	201022629	201022629	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:201022629T>G	uc001gvv.3	-	29	3980	c.3753A>C	c.(3751-3753)gaA>gaC	p.E1251D		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1251					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTCGCACTCCTTCTGCCCGGC	0.617000														81			22		0	0	0.003954	0	0
GGT7	2686	broad.mit.edu	37	20	33449261	33449261	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr20:33449261G>A	uc002xay.3	-	3	705	c.662C>T	c.(661-663)tCc>tTc	p.S221F	GGT7_uc002xaz.1_Missense_Mutation_p.S238F|GGT7_uc002xba.1_Missense_Mutation_p.S221F	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	221					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.S221F(2)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GGTCTCCCAGGATCTTTGCAG	0.527000														58			32		0	0	0.008361	0	0
NSUN5P2	260294	broad.mit.edu	37	7	72420461	72420461	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr7:72420461C>T	uc003two.3	-	2	318	c.127G>A	c.(127-129)Gct>Act	p.A43T	POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.3_Non-coding_Transcript|NSUN5P2_uc003twn.3_Missense_Mutation_p.A43T|NSUN5P2_uc003twm.3_Missense_Mutation_p.A43T|NSUN5P2_uc003twp.3_Missense_Mutation_p.A43T|NSUN5P2_uc003twq.3_Missense_Mutation_p.A43T|NSUN5P2_uc010lan.2_5'UTR					Homo sapiens NOP2/Sun domain family, member 5 pseudogene 2 (NSUN5P2), non-coding RNA.											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|stomach(1)	15						GACATGGGAGCCTGGCGGGGG	0.627000														80			16		0	0	0.007413	0	0
GUCY2D	3000	broad.mit.edu	37	17	7918671	7918671	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr17:7918671T>G	uc002gjt.2	+	14	2869	c.2795T>G	c.(2794-2796)aTg>aGg	p.M932R		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	932	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GACGCCTATATGGTGGCCTCG	0.577000														45			38		0	0	0.009718	0	0
DTX1	1840	broad.mit.edu	37	12	113515335	113515335	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr12:113515335T>G	uc001tuk.1	+	1	702	c.366T>G	c.(364-366)gaT>gaG	p.D122E		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	122	WWE 2.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGGCCTACGATATGGACATCT	0.622000														68			6		0	0	0.001984	0	0
TUFM	7284	broad.mit.edu	37	16	28857367	28857367	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr16:28857367G>A	uc002drh.2	-	1	252	c.113C>T	c.(112-114)gCa>gTa	p.A38V	NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_5'Flank|SH2B1_uc002dri.3_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA.	35						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						GAGAGGCAATGCCGGGGCTTT	0.652000														75			22		0	0	0.003330	0	0
SRPX	8406	broad.mit.edu	37	X	38079978	38079978	+	Missense_Mutation	SNP	A	G	G	rs72445954		TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chrX:38079978A>G	uc004ddy.2	-	0	200	c.68T>C	c.(67-69)cTg>cCg	p.L23P	SRPX_uc011mki.2_Missense_Mutation_p.L23P|SRPX_uc004ddz.2_Missense_Mutation_p.L23P|SRPX_uc011mkh.2_Missense_Mutation_p.L23P	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(4)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CGGGACGCgcagcagcagcag	0.726000											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		10			4		0	0	0.000602	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83307	83307	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chrGL000219.1:83307G>T	uc022brb.1	-	3	360	c.47C>A	c.(46-48)gCt>gAt	p.A16D	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GGCCAACAAAGCCATTTTCCC	0.373000														48			4		0.000602214	0.000686795	0.000602	1	0
SULT1A1	6817	broad.mit.edu	37	16	28617511	28617511	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr16:28617511G>A	uc002dqn.3	-	9	1506	c.914C>T	c.(913-915)tCc>tTc	p.S305F	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.S214F|SULT1A1_uc002dqi.3_Missense_Mutation_p.S214F|SULT1A1_uc002dqk.3_Missense_Mutation_p.S214F|SULT1A1_uc002dql.3_Missense_Mutation_p.S214F|SULT1A1_uc002dqm.3_Missense_Mutation_p.S136F|SULT1A1_uc002dqp.3_Missense_Mutation_p.S214F	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	214					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						CTCTGGCAGGGAGCGCCCCAC	0.547000														52			62		0	0	0.014410	0	0
IL10RA	3587	broad.mit.edu	37	11	117866368	117866368	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr11:117866368C>T	uc001prv.3	+	5	830	c.753C>T	c.(751-753)gcC>gcT	p.A251A	IL10RA_uc010rxl.2_Silent_p.A231A|IL10RA_uc010rxm.2_Silent_p.A231A|IL10RA_uc010rxn.2_Silent_p.A102A|IL10RA_uc001prw.3_Silent_p.A102A	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	251						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GAGCCCTCGCCTACTGCCTGG	0.592000														16			44		0	0	0.009718	0	0
ALPI	248	broad.mit.edu	37	2	233321670	233321670	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:233321670G>A	uc002vst.4	+	3	439	c.362G>A	c.(361-363)gGg>gAg	p.G121E	ALPI_uc002vsu.4_Missense_Mutation_p.G32E	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	121					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TACCTGTGCGGGGTCAAGGCC	0.607000														7			16		0	0	0.006122	0	0
ACAD10	80724	broad.mit.edu	37	12	112182552	112182552	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr12:112182552A>T	uc009zvx.3	+	13	2113	c.1913A>T	c.(1912-1914)gAg>gTg	p.E638V	ACAD10_uc001tsp.3_Missense_Mutation_p.E607V|ACAD10_uc001tsq.3_Missense_Mutation_p.E607V|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	607							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GTTTTCAAAGAGATGCCCTTC	0.537000														50			19		0	0	0.007413	0	0
BCL9L	283149	broad.mit.edu	37	11	118769345	118769345	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr11:118769345G>A	uc001pug.3	-	7	5244	c.4279C>T	c.(4279-4281)Ctc>Ttc	p.L1427F	BCL9L_uc009zal.3_Missense_Mutation_p.L1422F	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1427					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGGTCATGAGGCCTTGTGGA	0.662000														12			26		0	0	0.003954	0	0
SUGP2	10147	broad.mit.edu	37	19	19121075	19121075	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:19121075T>C	uc002nkz.1	-	4	1989	c.1969A>G	c.(1969-1971)Aac>Gac	p.N657D	SUGP2_uc002nkx.2_Missense_Mutation_p.N643D|SUGP2_uc002nla.1_Missense_Mutation_p.N643D|SUGP2_uc002nlb.2_Missense_Mutation_p.N643D|SUGP2_uc010xqk.1_Missense_Mutation_p.N412D	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	643					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTCGCAAGTTCTCGCTCATC	0.488000														283			62		0	0	0.014410	0	0
ZNF34	80778	broad.mit.edu	37	8	145999097	145999097	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr8:145999097G>A	uc003zdy.4	-	5	1339	c.1237C>T	c.(1237-1239)Cac>Tac	p.H413Y	ZNF34_uc010mgb.3_Missense_Mutation_p.H310Y|ZNF34_uc003zdx.4_Missense_Mutation_p.H392Y	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		TCTCCAGTGTGAATTCTCTGA	0.438000														24			19		0	0	0.008871	0	0
FAM86HP	729375	broad.mit.edu	37	3	129821754	129821754	+	RNA	SNP	C	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr3:129821754C>A	uc003ene.2	-	1		c.162G>T			FAM86HP_uc011ble.1_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		CAATACAGCACGTCTACGGTG	0.587000														71			6		3.86212e-05	4.4546e-05	0.008291	1	0
DNMT3L	29947	broad.mit.edu	37	21	45671560	45671560	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr21:45671560C>T	uc002zeg.1	-	8	1199	c.715G>A	c.(715-717)Gat>Aat	p.D239N	DNMT3L_uc002zeh.1_Missense_Mutation_p.D239N	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	239					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding	p.F238F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TACACAAGATCGAAGGGTCCC	0.652000														33			30		0	0	0.010818	0	0
IMP4	92856	broad.mit.edu	37	2	131103834	131103834	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:131103834C>T	uc002tra.1	+	7	767	c.750C>T	c.(748-750)cgC>cgT	p.R250R		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	Homo sapiens IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast) (IMP4), mRNA.	250	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	ATP binding|aminoacyl-tRNA ligase activity|protein binding	p.R250H(1)		central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					TCGGGCCCCGCTTTGAGCTGA	0.617000														32			13		0	0	0.003163	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417709	150417709	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr7:150417709G>A	uc003whq.3	+	2	757	c.617G>A	c.(616-618)gGg>gAg	p.G206E	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.									p.G206E(1)									CAGCTGCTGGGGATGGTCGAG	0.692000														15			15		0	0	0.002450	0	0
SALL2	6297	broad.mit.edu	37	14	21993455	21993455	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr14:21993455C>A	uc001wbe.3	-	1	689	c.407G>T	c.(406-408)gGa>gTa	p.G136V	SALL2_uc010tly.2_Missense_Mutation_p.G134V|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	136	Poly-Gly.						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		GCCCCCGCCTCCCCCAGCCGC	0.682000														36			26		1.68575e-08	1.97808e-08	0.007291	1	0
TINAG	27283	broad.mit.edu	37	6	54212203	54212203	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr6:54212203C>T	uc003pcj.2	+	5	933	c.787C>T	c.(787-789)Cga>Tga	p.R263*	TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	263					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GTCTAAGGGTCGATACACGGC	0.418000														27			23		0	0	0.014323	0	0
ZNF536	9745	broad.mit.edu	37	19	31038958	31038958	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:31038958C>T	uc002nsu.1	+	3	2570	c.2432C>T	c.(2431-2433)cCg>cTg	p.P811L	ZNF536_uc010edd.1_Missense_Mutation_p.P811L	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGGCTGGGCCGCTGTCTGGG	0.567000														30			64		0	0	0.014410	0	0
FOSL2	2355	broad.mit.edu	37	2	28627176	28627176	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:28627176T>G	uc002rma.3	+	1	1114	c.305T>G	c.(304-306)gTg>gGg	p.V102G	FOSL2_uc021vfg.1_Missense_Mutation_p.V77G|FOSL2_uc010ymi.2_Missense_Mutation_p.V63G	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	102					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					AGACCTGGCGTGATCAAGACC	0.637000														136			35		0	0	0.006230	0	0
ZNF274	10782	broad.mit.edu	37	19	58718389	58718389	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:58718389A>G	uc002qrq.1	+	5	1016	c.557A>G	c.(556-558)cAc>cGc	p.H186R	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Non-coding_Transcript|ZNF274_uc002qrr.1_Missense_Mutation_p.H154R|ZNF274_uc002qrs.1_Missense_Mutation_p.H81R|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	187	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GAGCTGTGTCACCAGTGGCTA	0.627000														20			6		0	0	0.001168	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410686	153410686	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:153410686G>A	uc010pdx.2	-	1	231	c.153C>T	c.(151-153)ttC>ttT	p.F51F		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.									p.S50C(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAAGTTGGGGAAGTTCTCCT	0.507000														49			25		0	0	0.007291	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30094403	30094403	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr7:30094403A>G	uc003taq.3	+	7	1277	c.875A>G	c.(874-876)gAc>gGc	p.D292G	PLEKHA8_uc022aba.1_Missense_Mutation_p.D292G|PLEKHA8_uc003tan.3_Missense_Mutation_p.D292G	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	292					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TCTGGATCAGACTCAAGTTGC	0.388000														123			39		0	0	0.006230	0	0
CLDN18	51208	broad.mit.edu	37	3	137743456	137743456	+	Silent	SNP	T	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr3:137743456T>C	uc003ero.1	+	2	446	c.393T>C	c.(391-393)tgT>tgC	p.C131C	CLDN18_uc003erp.1_Silent_p.C131C|CLDN18_uc010hue.1_Intron	NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	131					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CAGGTCTTTGTGCAATTGCTG	0.453000														229			45		0	0	0.014410	0	0
TADA3	10474	broad.mit.edu	37	3	9831606	9831606	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr3:9831606G>A	uc003bsx.1	-	2	797	c.249C>T	c.(247-249)ttC>ttT	p.F83F	TADA3_uc010hcn.1_Silent_p.F83F|TADA3_uc003bsy.3_Silent_p.F83F|TTLL3_uc003btb.2_5'Flank|TTLL3_uc003bta.2_5'Flank|TTLL3_uc003bsz.2_5'Flank|TTLL3_uc003btd.4_5'Flank|TTLL3_uc003btc.2_5'Flank	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	83					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCAGCTTCAGGAATCGTCTGT	0.522000														20			43		0	0	0.013114	0	0
NLGN1	22871	broad.mit.edu	37	3	173998380	173998380	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr3:173998380C>T	uc021xhm.1	+	6	2199	c.1879C>T	c.(1879-1881)Cat>Tat	p.H627Y	NLGN1_uc003fio.1_Missense_Mutation_p.H587Y|NLGN1_uc003fip.1_Missense_Mutation_p.H587Y	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	604					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACTTTATCTCCATATTGGATT	0.398000														88			64		0	0	0.014410	0	0
IGF2R	3482	broad.mit.edu	37	6	160501173	160501173	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr6:160501173G>A	uc003qta.3	+	38	5847	c.5699G>A	c.(5698-5700)gGc>gAc	p.G1900D		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1900	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.G1900G(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACCGATGACGGCGTCCCCTGT	0.532000														105			35		0	0	0.004289	0	0
REV3L	5980	broad.mit.edu	37	6	111695074	111695074	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr6:111695074G>A	uc003puy.4	-	12	4825	c.4484C>T	c.(4483-4485)tCg>tTg	p.S1495L	REV3L_uc003pux.4_Missense_Mutation_p.S1417L|REV3L_uc003puz.4_Missense_Mutation_p.S1417L	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1495					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.R1495L(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTGATAACGACCTCGGTTT	0.388000								DNA polymerases (catalytic subunits)						122			36		0	0	0.003755	0	0
SLC13A1	6561	broad.mit.edu	37	7	122821122	122821122	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr7:122821122C>T	uc003vkm.3	-	1	158	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	SLC13A1_uc010lks.3_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	45						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	CAAAATGTGGCGACCACAAAG	0.428000														81			25		0	0	0.005443	0	0
OR4K15	81127	broad.mit.edu	37	14	20443798	20443798	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr14:20443798C>T	uc010tkx.2	+	0	121	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTGCTGGGACTGTCTAGTTC	0.408000														86			61		0	0	0.014410	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880577	142880577	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr7:142880577C>T	uc011ksw.2	+	0	66	c.66C>T	c.(64-66)tgC>tgT	p.C22C		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	22					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CTAAACTCTGCGATCCTGCAG	0.408000														49			14		0	0	0.002450	0	0
OR4K1	79544	broad.mit.edu	37	14	20404268	20404268	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr14:20404268C>T	uc001vwj.2	+	0	502	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GTGTCTATTTCCTGGGCGGTG	0.453000														101			15		0	0	0.004990	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215734	8215734	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr17:8215734C>A	uc002glc.3	+	1	532	c.377C>A	c.(376-378)tCa>tAa	p.S126*	ARHGEF15_uc002glb.2_Nonsense_Mutation_p.S126*|ARHGEF15_uc002gld.3_Nonsense_Mutation_p.S126*|ARHGEF15_uc010vuw.2_Nonsense_Mutation_p.S126*	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	126	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCGTCTGGGTCACCCTGCACG	0.672000														184			21		8.10497e-08	9.4558e-08	0.010504	1	0
SLC17A5	26503	broad.mit.edu	37	6	74320250	74320250	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr6:74320250A>G	uc003phn.4	-	8	1260	c.1132T>C	c.(1132-1134)Ttc>Ctc	p.F378L	SLC17A5_uc010kax.3_Missense_Mutation_p.F37L|SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Intron	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	378					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTACCAGGAATACTGCAGGT	0.383000														93			31		0	0	0.013726	0	0
IGFN1	91156	broad.mit.edu	37	1	201184809	201184809	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:201184809G>A	uc001gwc.3	+	14	9268	c.9138G>A	c.(9136-9138)gtG>gtA	p.V3046V	IGFN1_uc001gwb.3_Intron	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGCTGAGGTGGTGGGCAGCA	0.657000														46			25		0	0	0.003330	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994526	140994526	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chrX:140994526C>T	uc004fbt.3	+	3	1660	c.1336C>T	c.(1336-1338)Cct>Tct	p.P446S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P105S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	446							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGATTCCTGTGAGCTC	0.463000										HNSCC(15;0.026)				140			139		0	0	0.014410	0	0
OTOF	9381	broad.mit.edu	37	2	26725240	26725240	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:26725240C>T	uc002rhk.3	-	6	765	c.638G>A	c.(637-639)gGa>gAa	p.G213E	OTOF_uc010ylb.1_Non-coding_Transcript	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	213					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTCCATCTCCTAGCCGAAT	0.567000														19			23		0	0	0.012319	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747072	10747072	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:10747072C>T	uc002mpf.3	+	14	1446	c.1307C>T	c.(1306-1308)tCg>tTg	p.S436L	SLC44A2_uc002mpe.4_Missense_Mutation_p.S434L|SLC44A2_uc002mpg.1_Missense_Mutation_p.S156L|SLC44A2_uc002mph.3_5'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	436					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGTGGTGAGTCGGGCTACCAC	0.622000														121			37		0	0	0.003271	0	0
MUC2	4583	broad.mit.edu	37	11	1080564	1080564	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr11:1080564C>T	uc001lsx.1	+	8	1233	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	402	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCACCACCTTCGATGGGAAGA	0.652000														5			17		0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	141243054	141243054	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:141243054C>T	uc002tvj.1	-	58	10255	c.9283G>A	c.(9283-9285)Gat>Aat	p.D3095N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3095					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)		CCAATCCAATCGACAGCAAGT	0.373000										TSP Lung(27;0.18)				13			44		0	0	0.013114	0	0
LOC440518	440518	broad.mit.edu	37	19	22785490	22785490	+	RNA	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:22785490G>A	uc002nqu.4	+	7		c.1579G>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CAGCTCTCTGGAGAGACAGAC	0.612000														88			54		0	0	0.014410	0	0
PABPC1	26986	broad.mit.edu	37	8	101717163	101717163	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr8:101717163G>A	uc003yjs.1	-	12	2313	c.1809C>T	c.(1807-1809)ctC>ctT	p.L603L	PABPC1_uc011lhc.1_Silent_p.L571L|PABPC1_uc011lhd.1_Silent_p.L558L|PABPC1_uc003yjt.1_Silent_p.L600L|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	603	PABC.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CCTTAGAACGGAGTGACTCTG	0.393000														90			54		0	0	0.014410	0	0
C1orf198	84886	broad.mit.edu	37	1	230979330	230979330	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:230979330G>A	uc001hub.3	-	2	741	c.697C>T	c.(697-699)Cct>Tct	p.P233S	C1orf198_uc009xfh.2_Missense_Mutation_p.P103S|C1orf198_uc001huc.2_Missense_Mutation_p.P16S|C1orf198_uc001hud.2_Missense_Mutation_p.P195S	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	233										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTCGGGGCAGGTTCCTGCCGG	0.637000														101			19		0	0	0.010504	0	0
FAM216B	144809	broad.mit.edu	37	13	43360951	43360951	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr13:43360951A>G	uc010tfk.2	+	2	275	c.152A>G	c.(151-153)aAc>aGc	p.N51S	FAM216B_uc010tfl.2_Missense_Mutation_p.N51S	NM_182508	NP_872314	Q8N7L0	CM030_HUMAN	Homo sapiens chromosome 13 open reading frame 30 (C13orf30), mRNA.	51																	AGGATTTACAACTCCAGGCCC	0.502000														159			51		0	0	0.014410	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43808546	43808546	+	Missense_Mutation	SNP	C	T	T	rs140614903	byFrequency	TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr21:43808546C>T	uc002zbb.2	-	4	613	c.412G>A	c.(412-414)Gca>Aca	p.A138T	TMPRSS3_uc002zaz.2_Missense_Mutation_p.A11T|TMPRSS3_uc002zba.2_Missense_Mutation_p.A11T|TMPRSS3_uc002zbc.2_Missense_Mutation_p.A138T|TMPRSS3_uc002zbd.3_Missense_Mutation_p.A138T	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	138	SRCR.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GCAACATTTGCGTAGTGACCC	0.512000														85			30		0	0	0.010818	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514314	58514314	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr20:58514314C>T	uc002ybb.3	-	0	1039	c.673G>A	c.(673-675)Ggg>Agg	p.G225R	FAM217B_uc002yba.3_Intron|FAM217B_uc002ybc.3_5'Flank|FAM217B_uc010zzx.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3D (PPP1R3D), mRNA.	225	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			CCTGCGGGCCCGCGCCACCGC	0.692000														60			13		0	0	0.003163	0	0
NKAIN2	154215	broad.mit.edu	37	6	125112530	125112530	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr6:125112530G>A	uc003pzo.3	+	4	797	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	NKAIN2_uc010keq.3_Missense_Mutation_p.E107K|NKAIN2_uc003pzp.3_Missense_Mutation_p.E173K|NKAIN2_uc010ker.3_Missense_Mutation_p.E84K	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	174						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATGTATAACTGAAGAAGAGGA	0.408000														41			12		0	0	0.001855	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692762	23692762	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr9:23692762G>A	uc003zpu.3	-	6	1148	c.873C>T	c.(871-873)atC>atT	p.I291I	ELAVL2_uc003zps.3_Silent_p.I278I|ELAVL2_uc003zpt.3_Silent_p.I278I|ELAVL2_uc003zpv.3_Silent_p.I291I|ELAVL2_uc003zpw.3_Silent_p.I278I	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	291	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TTTGCCACAGGATACTCTCAT	0.458000														23			67		0	0	0.014410	0	0
PABPC3	5042	broad.mit.edu	37	13	25670378	25670378	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr13:25670378C>T	uc001upy.3	+	0	103	c.42C>T	c.(40-42)taC>taT	p.Y14Y		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	14	RRM 1.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.Y14*(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCTCGCTCTACGTGGGGGACC	0.637000														65			23		0	0	0.003954	0	0
ZCCHC7	84186	broad.mit.edu	37	9	37357180	37357180	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr9:37357180G>A	uc003zzq.3	+	8	1720	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D	ZCCHC7_uc011lqh.2_Missense_Mutation_p.G226D|ZCCHC7_uc022bgu.1_Missense_Mutation_p.G516D|ZCCHC7_uc010mlt.3_Missense_Mutation_p.G515D	NM_032226	NP_115602	Q8N3Z6	ZCHC7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA.	516							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GGCAAGAGGGGCAAGCAGAAG	0.443000														84			4		0	0	0.009096	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	A	A	rs150688663	by1000genomes	TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:53856702G>A	uc010ydv.1	+	3	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_uc010ydw.1_Missense_Mutation_p.R925H	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000														37			3		0	0	0.009096	0	0
LOC644936	644936	broad.mit.edu	37	5	79596090	79596090	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr5:79596090C>A	uc010jai.3	-	0	208	c.67G>T	c.(67-69)Gac>Tac	p.D23Y						Homo sapiens actin, beta pseudogene (LOC644936), non-coding RNA.																		CCAGTCAGGTCCAGACACAGG	0.552000														6			18		7.07596e-05	8.11537e-05	0.006122	1	0
GUCA1C	9626	broad.mit.edu	37	3	108672598	108672598	+	Silent	SNP	G	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr3:108672598G>T	uc003dxj.2	-	0	80	c.12C>A	c.(10-12)ggC>ggA	p.G4G	GUCA1C_uc003dxk.2_Silent_p.G4G	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	4					signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						CTATAGATTTGCCATTCCCCA	0.428000														106			53		8.99859e-20	1.09384e-19	0.014410	1	0
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:21606712T>C	uc002npw.3	+	3	1370	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S	ZNF493_uc002npx.3_Silent_p.S289S|ZNF493_uc002npy.3_Silent_p.S289S|ZNF493_uc021urq.1_Silent_p.S289S	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348000														77			3		0	0	0.009096	0	0
CCDC108	255101	broad.mit.edu	37	2	219894796	219894796	+	Silent	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:219894796A>G	uc002vjl.1	-	9	1380	c.1296T>C	c.(1294-1296)acT>acC	p.T432T	CCDC108_uc010fwa.1_5'UTR|CCDC108_uc010zkp.1_Silent_p.T421T|CCDC108_uc010zkq.1_Silent_p.T367T	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	432						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTGTCCAGAGTCTTGGGGT	0.557000											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		45			26		0	0	0.004656	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342311	60342311	+	RNA	SNP	G	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr17:60342311G>T	uc010woz.2	-	13		c.1818C>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						AAAACGAGGAGGCGAAGCTTG	0.458000														101			13		1.06801e-11	1.28288e-11	0.009535	1	0
MAL	4118	broad.mit.edu	37	2	95713853	95713853	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:95713853G>A	uc002stx.1	+	1	302	c.243G>A	c.(241-243)gaG>gaA	p.E81E	MAL_uc002sty.1_Intron|MAL_uc002stz.1_Silent_p.E81E|MAL_uc002sua.1_Intron	NM_002371	NP_002362	P21145	MAL_HUMAN	Homo sapiens mal, T-cell differentiation protein (MAL), transcript variant a, mRNA.	81	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	p.E81E(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		ACGGTGGAGAGACTTCCTGGG	0.602000														43			31		0	0	0.010818	0	0
MKI67	4288	broad.mit.edu	37	10	129911718	129911718	+	Silent	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr10:129911718A>G	uc001lke.3	-	7	1824	c.1629T>C	c.(1627-1629)acT>acC	p.T543T	MKI67_uc001lkf.3_Silent_p.T183T|MKI67_uc009yav.1_Silent_p.T118T|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	543					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGACAGGTGGAGTGTGCATTA	0.473000														135			50		0	0	0.014410	0	0
MYO1A	4640	broad.mit.edu	37	12	57424845	57424845	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr12:57424845C>T	uc001smw.4	-	22	2703	c.2463G>A	c.(2461-2463)caG>caA	p.Q821Q	MYO1A_uc010sqz.2_Silent_p.Q659Q|MYO1A_uc009zpd.3_Silent_p.Q821Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	821					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGAAGAGCTGCTGCAGCTCCT	0.532000														49			37		0	0	0.006230	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000671	52000671	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:52000671C>T	uc002pwx.1	-	5	1490	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	SIGLEC12_uc002pww.1_Silent_p.T360T|SIGLEC12_uc010eoy.1_Silent_p.T205T	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	478			T -> M (in dbSNP:rs3829658).		cell adhesion	integral to membrane	sugar binding	p.T478A(1)|p.T478M(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATGCCCCTAGCGTCACTCCTG	0.547000														90			56		0	0	0.014410	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:53856730G>A	uc010ydv.1	+	3	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_uc010ydw.1_Silent_p.K934K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000														33			3		0	0	0.009096	0	0
MYOF	26509	broad.mit.edu	37	10	95095700	95095700	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr10:95095700G>C	uc001kin.3	-	40	4664	c.4541C>G	c.(4540-4542)cCt>cGt	p.P1514R	MYOF_uc001kio.3_Missense_Mutation_p.P1501R|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1514					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AACCACAGAAGGATCTTCATT	0.408000														199			11		0	0	0.010729	0	0
OR10R2	343406	broad.mit.edu	37	1	158449791	158449791	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:158449791G>A	uc010pik.2	+	0	124	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CAGCCTTGGTGAAATTCAGCT	0.423000														107			67		0	0	0.014410	0	0
ETV3L	440695	broad.mit.edu	37	1	157069119	157069119	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:157069119C>T	uc001fqq.2	-	1	395	c.110G>A	c.(109-111)cGg>cAg	p.R37Q		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	37						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CTGGATCTGCCGGGAGCCTGG	0.622000														44			26		0	0	0.006320	0	0
KIAA1324	57535	broad.mit.edu	37	1	109745567	109745567	+	Splice_Site	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:109745567G>A	uc021orb.1	+	22	3195	c.2974_splice	c.e22-1	p.R992_splice	KIAA1324_uc010ovg.2_Silent_p.E900E|KIAA1324_uc009wey.3_Splice_Site_p.R905_splice|KIAA1324_uc001dwr.3_Splice_Site_p.R642_splice	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	992					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTCTTTCAGAGGACTCCTGAT	0.537000														91			64		0	0	0.014410	0	0
PSG3	5671	broad.mit.edu	37	19	43372258	43372258	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr19:43372258A>G	uc002ovd.1	-	4	1376	c.1238T>C	c.(1237-1239)gTc>gCc	p.V413A	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Missense_Mutation_p.V320A|PSG3_uc002ova.2_Missense_Mutation_p.V320A|PSG3_uc002ouz.2_Missense_Mutation_p.V413A|PSG3_uc002ovb.3_Missense_Mutation_p.V413A	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	413					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CTTACCAGAGACTTCGACTGT	0.463000														336			98		0	0	0.014410	0	0
FAM129A	116496	broad.mit.edu	37	1	184772734	184772734	+	Silent	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:184772734C>T	uc001gra.3	-	11	1733	c.1539G>A	c.(1537-1539)gcG>gcA	p.A513A	FAM129A_uc001grb.1_Silent_p.A276A	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	513					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.A513A(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGCATGTGGACGCCAGTGCCT	0.433000														87			49		0	0	0.014410	0	0
JUP	3728	broad.mit.edu	37	17	39925418	39925418	+	Silent	SNP	C	T	T	rs140539043	byFrequency	TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr17:39925418C>T	uc002hxq.2	-	3	787	c.510G>A	c.(508-510)tcG>tcA	p.S170S	JUP_uc010wfs.2_Silent_p.S170S|JUP_uc002hxr.2_Silent_p.S170S|JUP_uc002hxs.2_Silent_p.S170S	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	170					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCTCCTTCTTCGACAGCTGGT	0.657000														6			59		0	0	0.014410	0	0
CPXM2	119587	broad.mit.edu	37	10	125521537	125521537	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr10:125521537G>T	uc001lhk.1	-	10	1953	c.1628C>A	c.(1627-1629)cCc>cAc	p.P543H	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	543					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGGTCGTCGGGGGTGGGGGT	0.672000														55			35		4.65686e-17	5.62704e-17	0.003755	1	0
MGP	4256	broad.mit.edu	37	12	15035126	15035126	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr12:15035126C>T	uc021qvr.1	-	4	462	c.334G>A	c.(334-336)Gga>Aga	p.G112R	MGP_uc001rcn.2_Missense_Mutation_p.G87R	NM_001190839	NP_001177768	P08493	MGP_HUMAN	Homo sapiens matrix Gla protein (MGP), transcript variant 1, mRNA.	87					cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						GCATTGTATCCATAAACCATG	0.483000														170			60		0	0	0.014410	0	0
C8orf34	116328	broad.mit.edu	37	8	69434077	69434077	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr8:69434077T>C	uc010lyz.3	+	5	1100	c.809T>C	c.(808-810)aTt>aCt	p.I270T	C8orf34_uc010lyy.2_Missense_Mutation_p.I270T|C8orf34_uc003xyb.3_Missense_Mutation_p.I159T	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	184					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCCCGTGTGATTGGAGAATGG	0.403000														60			58		0	0	0.014410	0	0
NT5C1A	84618	broad.mit.edu	37	1	40126862	40126862	+	Silent	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:40126862G>A	uc001cdq.1	-	4	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	210					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGTCCCCATCGAAGGCCACGC	0.612000														11			43		0	0	0.006999	0	0
ALPPL2	251	broad.mit.edu	37	2	233272555	233272555	+	Splice_Site	SNP	G	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:233272555G>T	uc002vss.4	+	5	529	c.476_splice	c.e5-1	p.G159_splice		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	159					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TCACCCTCAGGAAAGTCAGTG	0.617000														8			44		1.5731e-28	1.92373e-28	0.011902	1	0
SCAI	286205	broad.mit.edu	37	9	127762264	127762264	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr9:127762264A>G	uc004bpd.3	-	13	1341	c.1219T>C	c.(1219-1221)Tat>Cat	p.Y407H	SCAI_uc004bpe.3_Missense_Mutation_p.Y384H|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	384					negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						CCAAAATCATAAGGACCTATA	0.378000														139			31		0	0	0.010818	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480063	142480063	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr7:142480063C>A	uc011ksq.2	+	1	278	c.195C>A	c.(193-195)taC>taA	p.Y65*	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		GTCACTGCTACAAGCCGTAAG	0.567000														81			10		2.89027e-11	3.45132e-11	0.014323	1	0
DPYD	1806	broad.mit.edu	37	1	97981340	97981340	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:97981340C>T	uc001drv.3	-	12	1819	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	561					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.R561*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AAAAGCTCTTCGAATCATTGA	0.388000														17			37		0	0	0.011902	0	0
PVRL4	81607	broad.mit.edu	37	1	161044509	161044509	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:161044509C>T	uc001fxo.2	-	4	1191	c.892G>A	c.(892-894)Gac>Aac	p.D298N	PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_Missense_Mutation_p.D32N	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	298	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCCAAAGTGTCCCCATCCACT	0.597000														33			26		0	0	0.003954	0	0
NPHP1	4867	broad.mit.edu	37	2	110922252	110922252	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:110922252A>T	uc002tfn.4	-	7	878	c.784T>A	c.(784-786)Tgt>Agt	p.C262S	NPHP1_uc002tfm.4_Intron|NPHP1_uc002tfl.4_Missense_Mutation_p.C262S|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Intron|NPHP1_uc010fjv.1_Intron	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	262					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TTAACAAGACAGAAGATGCCC	0.468000														112			39		0	0	0.014410	0	0
PLXNA1	5361	broad.mit.edu	37	3	126733579	126733579	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr3:126733579A>C	uc003ejg.3	+	12	2782	c.2782A>C	c.(2782-2784)Agc>Cgc	p.S928R		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	928	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGGGGACGCCAGCTCCGTGCG	0.706000														31			6		0	0	0.001168	0	0
C18orf34	374864	broad.mit.edu	37	18	30847243	30847243	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr18:30847243C>T	uc010xbr.1	-	11	1337	c.1195G>A	c.(1195-1197)Gtt>Att	p.V399I	C18orf34_uc010dme.1_5'Flank|C18orf34_uc002kxn.2_Missense_Mutation_p.V399I|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.V399I|C18orf34_uc002kxp.3_Missense_Mutation_p.V399I	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	399										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TGGTCATAAACTCTTCTCAAA	0.308000														109			34		0	0	0.003271	0	0
NKX2-3	159296	broad.mit.edu	37	10	101293025	101293025	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr10:101293025T>G	uc009xwj.3	+	0	336	c.137T>G	c.(136-138)aTg>aGg	p.M46R	DQ372722_uc001kps.2_5'Flank	NM_145285	NP_660328	Q8TAU0	NKX23_HUMAN	Homo sapiens NK2 homeobox 3 (NKX2-3), mRNA.	46						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	5		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.45e-08)		GCGCCCTGCATGCTGGCCGCC	0.572000														30			7		0	0	0.003080	0	0
SLC7A8	23428	broad.mit.edu	37	14	23609687	23609687	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr14:23609687G>A	uc001wiz.3	-	4	1507	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S	SLC7A8_uc001wix.3_Missense_Mutation_p.P58S|SLC7A8_uc010tnk.2_Intron|SLC7A8_uc010tnl.2_Missense_Mutation_p.P156S|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Missense_Mutation_p.P261S	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	261					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CACTTGTAGGGATCAACAAGC	0.557000														118			61		0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179464170	179464170	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr2:179464170G>A	uc021vsy.1	-	238	48871	c.48646C>T	c.(48646-48648)Cgt>Tgt	p.R16216C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9911C|TTN_uc021vta.1_Missense_Mutation_p.R9844C|TTN_uc021vtb.1_Missense_Mutation_p.R9719C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17143							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCCAGGACGACCTAAAATG	0.368000														20			55		0	0	0.014410	0	0
NCOA6	23054	broad.mit.edu	37	20	33345550	33345550	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr20:33345550G>A	uc002xav.3	-	7	3572	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F	NCOA6_uc002xaw.3_Missense_Mutation_p.S334F|NCOA6_uc021wcd.1_Missense_Mutation_p.S334F|NCOA6_uc021wce.1_Missense_Mutation_p.S334F|NCOA6_uc021wcf.1_Missense_Mutation_p.S334F|NCOA6_uc010gew.1_Missense_Mutation_p.S291F	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	334	CREBBP-binding region.|Gln-rich.|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						TGTGCCCAGAGAACCCTGGGC	0.587000														62			56		0	0	0.014410	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	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					80			42		0	0	0.009718	0	0
TMEM216	51259	broad.mit.edu	37	11	61161357	61161357	+	Splice_Site	SNP	T	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438000														30			11		0	0	0.003330	0	0
PDGFRL	5157	broad.mit.edu	37	8	17447069	17447069	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr8:17447069C>T	uc003wxr.3	+	2	593	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	50						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		GCCCAAAATTCCTAAAATGAA	0.468000														34			114		0	0	0.014410	0	0
ITGB8	3696	broad.mit.edu	37	7	20449354	20449354	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr7:20449354A>G	uc003suu.3	+	12	2845	c.2140A>G	c.(2140-2142)Aat>Gat	p.N714D	ITGB8_uc011jyh.2_Missense_Mutation_p.N579D	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	714					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.S713C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ATGGAATAGTAATAAAATTAA	0.323000														92			59		0	0	0.014410	0	0
SIX4	51804	broad.mit.edu	37	14	61180388	61180388	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr14:61180388G>A	uc001xfc.3	-	2	2143	c.2083C>T	c.(2083-2085)Cag>Tag	p.Q695*		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	695						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGACCTACCTGATCTTCAGCT	0.453000														26			19		0	0	0.006122	0	0
NYAP1	222950	broad.mit.edu	37	7	100086290	100086290	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr7:100086290A>G	uc003uvd.1	+	3	1105	c.946A>G	c.(946-948)Acc>Gcc	p.T316A	NYAP1_uc003uve.1_Missense_Mutation_p.T98A	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	316	Pro-rich.																CGGGACGCCCACCAAGACCAC	0.672000														146			28		0	0	0.012213	0	0
HLA-G	3135	broad.mit.edu	37	6	29856463	29856463	+	Missense_Mutation	SNP	T	G	G	rs151026547	by1000genomes	TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr6:29856463T>G	uc010jro.3	+	2	715	c.569T>G	c.(568-570)tTc>tGc	p.F190C	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Missense_Mutation_p.F188C|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	188	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAGGGCGAGTTCGTGGAGTGG	0.687000														60			8		0	0	0.002450	0	0
PDZD2	23037	broad.mit.edu	37	5	31799634	31799634	+	Silent	SNP	C	T	T	rs146790239		TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr5:31799634C>T	uc003jhl.3	+	1	667	c.279C>T	c.(277-279)ttC>ttT	p.F93F	PDZD2_uc003jhm.3_Silent_p.F93F	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	93	PDZ 1.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCCCTGTTTTCGGGGACTATG	0.567000														29			78		0	0	0.014410	0	0
IGH	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	C	C			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr16:32070612A>C	uc002ecv.1	+	0		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGTCTCCTGCAAGGCTTCTGG	0.552000														117			7		0	0	0.008291	0	0
PDPN	10630	broad.mit.edu	37	1	13940906	13940906	+	Splice_Site	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:13940906C>T	uc001avd.3	+	5	759	c.710_splice	c.e5+1	p.S237_splice	PDPN_uc001avc.3_Intron|PDPN_uc009vob.3_Splice_Site_p.S119_splice|PDPN_uc009voc.3_Splice_Site_p.S119_splice|PDPN_uc001ave.3_Intron|PDPN_uc001avf.3_Splice_Site_p.S119_splice	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	161					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GGAAGGTACTCGTAAGTAAAT	0.423000														32			49		0	0	0.014410	0	0
TRPM1	4308	broad.mit.edu	37	15	31341578	31341578	+	Splice_Site	SNP	T	A	A			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr15:31341578T>A	uc021sia.1	-	12	1937	c.1623_splice	c.e12+1	p.T541_splice	TRPM1_uc010azy.3_Splice_Site_p.T409_splice|TRPM1_uc001zfl.3_Splice_Site|TRPM1_uc021shz.1_Splice_Site_p.T524_splice|TRPM1_uc001zfm.3_Splice_Site_p.T502_splice	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	502			M -> K (in CSNB1C).		cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAGCACTCACTGTGTTATAAA	0.463000														115			52		0	0	0.014410	0	0
SLC6A9	6536	broad.mit.edu	37	1	44466702	44466702	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:44466702A>T	uc001cll.3	-	10	1772	c.1580T>A	c.(1579-1581)aTg>aAg	p.M527K	SLC6A9_uc009vxe.2_Missense_Mutation_p.M383K|SLC6A9_uc010okm.1_Missense_Mutation_p.M454K|SLC6A9_uc001clm.3_Missense_Mutation_p.M473K|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Missense_Mutation_p.M458K|SLC6A9_uc010oko.2_Missense_Mutation_p.M343K|SLC6A9_uc001cln.3_Missense_Mutation_p.M454K|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	527						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	ATAGTTGTCCATCAGCAGCAG	0.627000														47			24		0	0	0.002780	0	0
KLHL20	27252	broad.mit.edu	37	1	173702979	173702979	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:173702979C>T	uc001gjc.3	+	2	330	c.151C>T	c.(151-153)Cct>Tct	p.P51S	KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_Missense_Mutation_p.P33S|KLHL20_uc001gjd.3_Missense_Mutation_p.P51S	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	51					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						AGACAAGCACCCTCGACAAAC	0.527000														116			18		0	0	0.008871	0	0
MDS2	259283	broad.mit.edu	37	1	23953539	23953540	+	RNA	DEL	GA	-	-			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr1:23953539_23953540delGA	uc001bhi.3	+	2		c.829_830delGA			MDS2_uc001bhj.3_Non-coding_Transcript					Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA.											breast(1)|ovary(2)	3						AAAGGGAGGGGAGAGAGAGAGA	0.535			T	ETV6	MDS								---	4	---	---	2	---					
MLL3	58508	broad.mit.edu	37	7	151874148	151874148	+	Frame_Shift_Del	DEL	T	-	-			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr7:151874148delT	uc003wla.3	-	37	8609	c.8390delA	c.(8389-8391)aagfs	p.K2797fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.K1858fs|MLL3_uc003wky.3_Frame_Shift_Del_p.K306fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2797				K -> R (in Ref. 1; AAK00583).	intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.K2797fs*26(39)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTCTTGTTCCTTTTTTTTTGG	0.348			N		medulloblastoma								---	175	---	---	8	---					
ALPK3	57538	broad.mit.edu	37	15	85382960	85382971	+	In_Frame_Del	DEL	CCAGGCCTCTGC	-	-			TCGA-ER-A2ND-06A-11D-A196-08	TCGA-ER-A2ND-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	844cd78e-19d6-45e2-9dba-8cd6cdb71a5d	d5708200-6909-4714-8798-66f9caa736ca	g.chr15:85382960_85382971delCCAGGCCTCTGC	uc002ble.3	+	4	1223_1234	c.1056_1067delCCAGGCCTCTGC	c.(1054-1068)taccaggcctctgcc>tac	p.QASA353del		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	353	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCGCCATCTACCAGGCCTCTGCCCAGAACAGC	0.627													---	92	---	---	11	---