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
ABCA12	26154	broad.mit.edu	37	2	215818782	215818782	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:215818782G>A	uc002vew.3	-	43	6663	c.6443C>T	c.(6442-6444)cCa>cTa	p.P2148L	ABCA12_uc002vev.3_Missense_Mutation_p.P1830L|ABCA12_uc010zjn.2_Missense_Mutation_p.P1075L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2148					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGAATTGTGGGAAAATCAG	0.348000														67			5		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178564851	178564851	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:178564851C>T	uc003mjw.3	-	11	1972	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	624	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.E624A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CACTGCTCCTCGCGGAAGTCA	0.706000														2			5		0	0	1	0	0
NR0B2	8431	broad.mit.edu	37	1	27240186	27240186	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:27240186C>T	uc001bnf.3	-	0	382	c.246G>A	c.(244-246)caG>caA	p.Q82Q	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	82	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GCCGCTGGTCCTGGGGAGGCA	0.647000														17			14		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128977626	128977626	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:128977626G>A	uc003kvb.1	+	10	1827	c.1827G>A	c.(1825-1827)atG>atA	p.M609I	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	609	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACCCACCAATGGATGGAACTG	0.393000														28			18		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61290703	61290703	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:61290703C>T	uc001nrv.3	-	7	1003	c.951G>A	c.(949-951)gtG>gtA	p.V317V	SYT7_uc009ynr.3_Silent_p.V392V	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	317	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCTTCTTCTCCACCCGCTTGT	0.562000														39			30		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45088459	45088459	+	Splice_Site	SNP	G	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:45088459G>C	uc001clv.1	+	4	1164	c.804_splice	c.e4+1	p.K268_splice	RNF220_uc001clw.1_Splice_Site_p.K268_splice|RNF220_uc010okx.1_Splice_Site_p.K29_splice|RNF220_uc010oky.1_Splice_Site_p.K29_splice	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	268					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCACCCCAAAGGTAGGTGGCC	0.502000														39			25		0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57182141	57182141	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:57182141C>T	uc010rjr.2	-	10	1388	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	SLC43A3_uc001nke.3_Missense_Mutation_p.G235D|SLC43A3_uc001nkg.3_Missense_Mutation_p.G336D|SLC43A3_uc001nkh.3_Missense_Mutation_p.G336D|SLC43A3_uc009yme.3_Missense_Mutation_p.G336D|SLC43A3_uc001nki.3_Missense_Mutation_p.G336D|SLC43A3_uc009ymf.1_Missense_Mutation_p.G336D	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	336					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CATGAGCAGGCCATTCCAGGG	0.547000														114			78		0	0	1	0	0
BCL2L10	10017	broad.mit.edu	37	15	52404609	52404609	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:52404609C>T	uc002abq.3	-	0	364	c.315G>A	c.(313-315)ggG>ggA	p.G105G		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.	95					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CCAGCAGCGTCCCTGCGAAGG	0.701000														12			9		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447030	226447030	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:226447030C>T	uc002voe.2	+	3	1072	c.897C>T	c.(895-897)ccC>ccT	p.P299P	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.P69P	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	299																	GTGCTACTCCCACGGTGCCTG	0.572000														25			28		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	40999866	40999866	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:40999866C>T	uc003jmj.4	-	39	4988	c.4498G>A	c.(4498-4500)Gaa>Aaa	p.E1500K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.E1055K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1500							binding	p.Q1499H(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CACAGAATTTCCTGGTTTTTC	0.473000														48			21		0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74487084	74487084	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:74487084C>T	uc002fcx.3	-	25	3571	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q	GLG1_uc002fcw.4_Missense_Mutation_p.R1163Q|GLG1_uc002fcy.4_Missense_Mutation_p.R1174Q|GLG1_uc002fcz.4_Missense_Mutation_p.R591Q	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	1174						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CTTGAGCTCTCGTGTCACTCG	0.502000														51			37		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1426855	1426855	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:1426855G>A	uc002qwr.3	+	2	219	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.E45K|TPO_uc002qww.3_Missense_Mutation_p.E45K|TPO_uc002qwx.3_Missense_Mutation_p.E45K|TPO_uc002qwu.3_Missense_Mutation_p.E45K|TPO_uc010yio.2_Missense_Mutation_p.E45K|TPO_uc010yip.2_Missense_Mutation_p.E45K	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	45					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGTCTTGGAGGAAAGCAAGCG	0.587000														24			16		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3984759	3984759	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:3984759G>A	uc002fxe.3	-	17	2804	c.2740C>T	c.(2740-2742)Ctt>Ttt	p.L914F	ZZEF1_uc002fxk.1_Missense_Mutation_p.L915F	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	914							calcium ion binding|zinc ion binding	p.L914delL(2)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCAGGTAAAAGAAGAAGGCCG	0.448000														41			44		0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22890661	22890661	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:22890661C>T	uc002zwf.3	-	4	1514	c.1358G>A	c.(1357-1359)gGt>gAt	p.G453D	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.G437D|PRAME_uc010gtr.3_Missense_Mutation_p.G453D|PRAME_uc002zwg.3_Missense_Mutation_p.G453D|PRAME_uc002zwh.3_Missense_Mutation_p.G453D|PRAME_uc002zwi.3_Missense_Mutation_p.G453D|PRAME_uc002zwj.3_Missense_Mutation_p.G453D|PRAME_uc002zwk.3_Missense_Mutation_p.G453D	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	453	Mediates interaction with RARA.				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.G453V(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		GTGGAGGGTACCATGGATGTC	0.587000														42			34		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751472	62751472	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:62751472G>A	uc001nwk.3	-	1	750	c.417C>T	c.(415-417)tcC>tcT	p.S139S	SLC22A6_uc001nwl.3_Silent_p.S139S|SLC22A6_uc001nwj.3_Silent_p.S139S|SLC22A6_uc001nwm.3_Silent_p.S139S	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	139					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCATGTACAAGGACTGGGCCA	0.617000														10			10		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52265196	52265196	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:52265196C>T	uc002lfq.1	+	2	499	c.453C>T	c.(451-453)tcC>tcT	p.S151S		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	151						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TCCAGCTATCCACAAATGATG	0.448000														30			19		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379976	107379976	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:107379976C>T	uc011lvr.2	-	0	510	c.510G>A	c.(508-510)agG>agA	p.R170R		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R170R(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						TGACATTCTTCCTGCAGAAAG	0.448000														43			32		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94006333	94006333	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:94006333C>T	uc011cdt.2	+	2	690	c.432C>T	c.(430-432)ctC>ctT	p.L144L	GRID2_uc010ikx.3_Silent_p.L144L|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	144					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACTACACTCTCTCAGTTCGCC	0.488000														46			39		0	0	1	0	0
ZNF566	84924	broad.mit.edu	37	19	36940769	36940769	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:36940769C>T	uc010xtf.2	-	4	505	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	ZNF566_uc002oea.4_Missense_Mutation_p.E123K|ZNF566_uc010xte.2_Missense_Mutation_p.E123K|ZNF566_uc002oeb.4_Missense_Mutation_p.E123K|ZNF566_uc002oec.4_Missense_Mutation_p.E19K|ZNF566_uc010xtg.2_Missense_Mutation_p.E19K	NM_001145343	NP_001138815	Q969W8	ZN566_HUMAN	Homo sapiens zinc finger protein 566 (ZNF566), transcript variant 4, mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CGATTACATTCCCAATCATCT	0.403000														84			75		0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55858523	55858523	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:55858523C>T	uc002qkj.4	+	8	1343	c.1095C>T	c.(1093-1095)caC>caT	p.H365H	SUV420H2_uc002qkl.3_Silent_p.H250H	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA.	365	Required for heterochromatin localization (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTGGCCCCCACTGCCGCCTGC	0.781000														0			3		0	0	1	0	0
METTL16	79066	broad.mit.edu	37	17	2323331	2323331	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:2323331C>T	uc002fut.3	-	9	1770	c.1622G>A	c.(1621-1623)aGg>aAg	p.R541K	METTL16_uc010cka.3_Non-coding_Transcript|METTL16_uc002fuu.4_Non-coding_Transcript|METTL16_uc002fuv.3_Intron|METTL16_uc010vqx.1_Non-coding_Transcript|METTL16_uc010vqy.1_Missense_Mutation_p.R323K	NM_024086	NP_076991	Q86W50	MET16_HUMAN	Homo sapiens methyltransferase like 16 (METTL16), mRNA.	541							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CATCAGATCCCTGTTCTGGCC	0.473000														66			4		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801424	148801424	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:148801424G>A	uc003wfj.3	-	3	1672	c.1539C>T	c.(1537-1539)ctC>ctT	p.L513L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	513					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GGTGCTGCGTGAGCCGCGACT	0.637000														89			12		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170784365	170784365	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:170784365C>T	uc003fhh.2	-	31	4204	c.3859_splice	c.e31+1	p.A1287_splice	TNIK_uc003fhi.2_Splice_Site_p.A1232_splice|TNIK_uc003fhj.2_Splice_Site_p.A1258_splice|TNIK_uc003fhk.2_Splice_Site_p.A1279_splice|TNIK_uc003fhl.2_Splice_Site_p.A1203_splice|TNIK_uc003fhm.2_Splice_Site_p.A1224_splice|TNIK_uc003fhn.2_Splice_Site_p.A1250_splice|TNIK_uc003fho.2_Splice_Site_p.A1195_splice|TNIK_uc003fhg.2_Splice_Site_p.A465_splice|TNIK_uc003fhp.3_Missense_Mutation_p.G219S	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1287	CNH.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GTTAACCTACCCACAGACGTG	0.423000														4			20		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98823975	98823975	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:98823975G>A	uc001kmw.2	-	6	831	c.579C>T	c.(577-579)atC>atT	p.I193I	SLIT1_uc009xvh.1_Silent_p.I193I	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	193					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGATGGTGGTGATATTGTTGT	0.572000														2			11		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132730587	132730587	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrX:132730587T>A	uc010nrn.2	-	7	1720	c.1523A>T	c.(1522-1524)gAt>gTt	p.D508V	GPC3_uc004exe.2_Missense_Mutation_p.D485V|GPC3_uc011mvh.2_Missense_Mutation_p.D469V|GPC3_uc010nro.2_Missense_Mutation_p.D431V	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	485						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	p.G508G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CAGGTTTTTATCCAGAACTCT	0.448000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					5			68		0	0	1	0	0
CUTA	51596	broad.mit.edu	37	6	33384521	33384521	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:33384521A>G	uc003oej.1	-	5	734	c.446T>C	c.(445-447)aTt>aCt	p.I149T	CUTA_uc003oen.1_Missense_Mutation_p.I168T|CUTA_uc003oem.1_Missense_Mutation_p.I126T|CUTA_uc003oek.1_Missense_Mutation_p.I126T|CUTA_uc003oel.1_Missense_Mutation_p.I126T	NM_001014840	NP_057005	O60888	CUTA_HUMAN	Homo sapiens cutA divalent cation tolerance homolog (E. coli) (CUTA), transcript variant 5, mRNA.	149					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						AGGCAATGCAATTACCTCGGC	0.517000														20			44		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20645810	20645810	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:20645810G>A	uc001ytg.3	-	19	2975	c.2266C>T	c.(2266-2268)Ctc>Ttc	p.L756F	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.L756F|HERC2P3_uc010tyy.2_Missense_Mutation_p.L756F					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						AGGGAGCTGAGGGTGCCGCAC	0.627000														34			8		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541349	28541349	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:28541349G>A	uc003nlo.3	-	3	2935	c.2317C>T	c.(2317-2319)Cca>Tca	p.P773S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	773					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.K772R(1)|p.K772I(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agttttgatggtttcattgct	0.313000														12			7		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134093	128134093	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:128134093C>T	uc011ebt.2	-	3	1842	c.1693G>A	c.(1693-1695)Gaa>Aaa	p.E565K	THEMIS_uc010kfa.3_Missense_Mutation_p.E468K|THEMIS_uc021zfa.1_Missense_Mutation_p.E565K|THEMIS_uc010kfb.3_Missense_Mutation_p.E530K	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	565					T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AACTTTGTTTCCTCTACTGAG	0.483000														32			47		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	16008252	16008252	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:16008252C>T	uc002nbs.1	-	1	220	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	57					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAACCAGTTCCGTCTTGGGGG	0.617000														49			40		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113697977	113697977	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:113697977G>A	uc001poh.3	-	10	1198	c.1165C>T	c.(1165-1167)Cct>Tct	p.P389S	USP28_uc001pog.3_Missense_Mutation_p.P97S|USP28_uc010rwy.2_Missense_Mutation_p.P264S|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P389S	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	389					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATAATCTGAGGAAATTCCAGC	0.393000														22			16		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46762942	46762942	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:46762942C>T	uc003bhw.1	-	28	8153	c.8153G>A	c.(8152-8154)gGg>gAg	p.G2718E		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2718					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGCTTCCTCCCGCCGAGCAC	0.697000											OREG0026655	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		12			9		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115337882	115337882	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:115337882C>T	uc001lai.4	+	5	649	c.546C>T	c.(544-546)ttC>ttT	p.F182F	HABP2_uc021pyr.1_Silent_p.F156F|HABP2_uc010qrz.1_Non-coding_Transcript|HABP2_uc010qry.1_Missense_Mutation_p.S171L	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	182	EGF-like 3.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CCGACCAGTTCAAGGGGAAAT	0.552000														3			33		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174664	51174664	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:51174664C>T	uc021tif.1	-	1	1500	c.1178G>A	c.(1177-1179)gGg>gAg	p.G393E	SALL1_uc021tid.1_Missense_Mutation_p.G393E|SALL1_uc021tie.1_Missense_Mutation_p.G490E|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	490					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTCAGATTCCCCTTGGTGGA	0.512000														68			30		0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14159865	14159865	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:14159865C>T	uc002mxx.3	+	8	1637	c.1214C>T	c.(1213-1215)tCc>tTc	p.S405F		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	405	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GCCTCTGCATCCTCCGTCTGG	0.562000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			28		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25755615	25755615	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:25755615G>A	uc001isj.3	+	4	1431	c.1371G>A	c.(1369-1371)acG>acA	p.T457T		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	457						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTTGGAAACGATCCTTTTTG	0.338000														3			13		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233923	61233923	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:61233923C>T	uc010xeo.2	+	6	957	c.957C>T	c.(955-957)ttC>ttT	p.F319F	SERPINB12_uc010xen.2_Silent_p.F299F	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	299					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTGTCCTTCCCCCGGTTCA	0.448000														87			70		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430364	10430364	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:10430364G>A	uc010coi.3	-	28	4009	c.3881C>T	c.(3880-3882)tCa>tTa	p.S1294L	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.S1294L|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1294					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F1293V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGCTGGCGTGAAAACTCACC	0.388000														15			26		0	0	1	0	0
C10orf67	256815	broad.mit.edu	37	10	23611456	23611456	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:23611456G>A	uc010qcx.2	-	2	407	c.341C>T	c.(340-342)tCc>tTc	p.S114F		NM_153714	NP_714925	Q8IYJ2	CJ067_HUMAN	Homo sapiens chromosome 10 open reading frame 67 (C10orf67), mRNA.	114										central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5						TACCTGGAGGGATTTCATCAT	0.393000														1			11		0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84772692	84772692	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:84772692A>T	uc003pkg.4	+	2	398	c.208A>T	c.(208-210)Aca>Tca	p.T70S	MRAP2_uc010kbo.3_Intron	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	70					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTGACCAAGACAGGAGCCCC	0.448000														12			16		0	0	1	0	0
NOP2	4839	broad.mit.edu	37	12	6675298	6675298	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:6675298G>A	uc021qtw.1	-	4	611	c.431C>T	c.(430-432)tCc>tTc	p.S144F	NOP2_uc009zeq.2_5'Flank|NOP2_uc021qtx.1_Missense_Mutation_p.S144F|NOP2_uc021qty.1_Missense_Mutation_p.S148F|NOP2_uc021qtz.1_Missense_Mutation_p.S148F|NOP2_uc021qua.1_Missense_Mutation_p.S148F	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	148					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTCAGAGTTGGAGTCAGCTCC	0.493000														12			8		0	0	1	0	0
SAG	6295	broad.mit.edu	37	2	234238158	234238158	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:234238158C>T	uc002vuh.2	+	8	1056	c.668C>T	c.(667-669)cCc>cTc	p.P223L	SAG_uc010zmq.1_Missense_Mutation_p.P89L	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	223					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CATGGGGAGCCCATCCCTGTG	0.448000														12			12		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	24664	24664	+	RNA	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrGL000241.1:24664G>A	uc011mgv.2	-	4		c.549C>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		TTTGACAGCCGTAAACTGCTC	0.289000														31			5		0	0	1	0	0
HDGFL1	154150	broad.mit.edu	37	6	22569936	22569936	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:22569936G>A	uc003nds.3	+	0	259	c.132G>A	c.(130-132)ggG>ggA	p.G44G		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	44	PWWP.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TTTTCTTCGGGACCCACGAGA	0.607000														27			38		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41496209	41496209	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr21:41496209G>A	uc002yyq.1	-	19	4061	c.3609C>T	c.(3607-3609)tcC>tcT	p.S1203S	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.	1203	Fibronectin type-III 4.				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)				CAAAGACCATGGAGGCTGAGG	0.572000														116			12		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31816005	31816005	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:31816005A>G	uc001ivs.4	+	8	3251	c.3188A>G	c.(3187-3189)gAg>gGg	p.E1063G	ZEB1_uc001ivr.4_Missense_Mutation_p.E845G|ZEB1_uc010qef.2_Missense_Mutation_p.E845G|ZEB1_uc001ivu.4_Missense_Mutation_p.E1064G|ZEB1_uc010qeh.2_Missense_Mutation_p.E996G|ZEB1_uc001ivv.4_Missense_Mutation_p.E1043G|ZEB1_uc001ivt.4_Missense_Mutation_p.E845G|ZEB1_uc009xlo.2_Missense_Mutation_p.E1046G|ZEB1_uc009xlp.3_Missense_Mutation_p.E1047G	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	1063	Glu-rich (acidic).				cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				caaggggatgaggaagaggag	0.448000														0			5		0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122460008	122460008	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrX:122460008G>A	uc004etq.4	+	3	932	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	GRIA3_uc004etr.4_Missense_Mutation_p.E214K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E198K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	214					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAGGAGGCAGGAAAAGCGATA	0.423000														5			45		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42041375	42041375	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:42041375C>T	uc010ucy.2	+	16	5751	c.5570C>T	c.(5569-5571)tCg>tTg	p.S1857L	MGA_uc010ucz.2_Missense_Mutation_p.S1648L|MGA_uc010uda.1_Missense_Mutation_p.S473L|MGA_uc001zoi.3_Missense_Mutation_p.S71L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1818						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCTTCCACTTCGTCCTCTGCT	0.443000														55			45		0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275104	58275104	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:58275104C>T	uc010rki.2	-	0	475	c.475G>A	c.(475-477)Gca>Aca	p.A159T		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A159E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAGGTGCCTGCTGCATGGATA	0.502000														28			20		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77282747	77282747	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:77282747G>A	uc004aji.3	+	7	1123	c.1074G>A	c.(1072-1074)aaG>aaA	p.K358K	RORB_uc004ajh.3_Silent_p.K347K	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	358	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACTTTGCAAAGAATTTGTGTT	0.398000														50			34		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40939505	40939505	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:40939505G>A	uc002ibj.3	+	6	1754	c.1686G>A	c.(1684-1686)gaG>gaA	p.E562E	WNK4_uc010wgx.2_Silent_p.E226E|WNK4_uc002ibk.1_Silent_p.E334E|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	562			E -> K (in PHAII).		intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.A562G(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGAGCCAGAGGCAGACCAGC	0.612000														79			70		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43623419	43623419	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:43623419G>A	uc003bdt.2	-	9	1295	c.1168C>T	c.(1168-1170)Ccg>Tcg	p.P390S		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	390	EGF-like 9; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	p.P390Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGCCTCCCCGGGGGACAGACG	0.667000														12			19		0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40881966	40881966	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:40881966C>T	uc001cfj.3	+	7	1215	c.800C>T	c.(799-801)tCc>tTc	p.S267F	SMAP2_uc010ojh.2_Missense_Mutation_p.S267F|SMAP2_uc001cfk.3_Missense_Mutation_p.S237F|SMAP2_uc021oma.1_Missense_Mutation_p.S262F|SMAP2_uc010oji.2_Missense_Mutation_p.S187F|SMAP2_uc010ojj.2_Missense_Mutation_p.S83F	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	267					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|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;1.04e-17)			TCTAAAGACTCCATTCTTTCA	0.498000														76			50		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77283442	77283442	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:77283442C>T	uc003hkb.4	-	11	2010	c.1857G>A	c.(1855-1857)aaG>aaA	p.K619K		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	619										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCCGGATCTTTGCATCTT	0.393000														65			41		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111947816	111947816	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:111947816C>T	uc004bdz.1	-	22	2666	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	791						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGGTCTCTTCCTTCATGGGG	0.617000														30			13		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967673	87967673	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:87967673C>T	uc003plm.4	+	7	4367	c.4326C>T	c.(4324-4326)ttC>ttT	p.F1442F		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATCTACCTTCAATCCAGAAG	0.413000														22			64		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498881	118498881	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:118498881C>T	uc001ptr.2	+	6	1695	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	PHLDB1_uc001pts.3_Missense_Mutation_p.R448W|PHLDB1_uc001ptt.3_Missense_Mutation_p.R448W|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Missense_Mutation_p.R248W|PHLDB1_uc001ptw.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	448										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCGCCTGGGCCGGCGGGGCCT	0.647000														96			62		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112166836	112166836	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:112166836G>A	uc004bed.2	-	18	1957	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F	PTPN3_uc004beb.2_Silent_p.F484F|PTPN3_uc004bec.2_Silent_p.F439F|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.F570F|PTPN3_uc011lwh.1_Silent_p.F461F|PTPN3_uc011lwd.1_Silent_p.F83F|PTPN3_uc011lwe.1_Silent_p.F328F|PTPN3_uc011lwf.1_Silent_p.F283F	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	615					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						tggcttcggggaaaagctggt	0.522000														37			48		0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121437400	121437400	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:121437400C>T	uc001tzg.3	+	8	1761	c.1738C>T	c.(1738-1740)Ccg>Tcg	p.P580S	HNF1A_uc010szn.2_Missense_Mutation_p.P587S|HNF1A_uc021rfa.1_Missense_Mutation_p.P611S|HNF1A_uc021rfb.1_Missense_Mutation_p.P452S|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	580					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCACCTGCAGCCGGCCCACCG	0.692000									Hepatic Adenoma, Familial Clustering of					27			10		0	0	1	0	0
FBXO46	23403	broad.mit.edu	37	19	46215527	46215527	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:46215527G>A	uc002pcz.3	-	1	1350	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	FBXO46_uc002pcy.3_Silent_p.F409F|FBXO46_uc021uvz.1_Silent_p.F409F	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	409							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TCTGGAGAAAGAAGAGCTGGC	0.701000														23			16		0	0	1	0	0
SLC26A9	115019	broad.mit.edu	37	1	205890931	205890931	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:205890931G>A	uc001hdp.3	-	16	1932	c.1818C>T	c.(1816-1818)ccC>ccT	p.P606P	SLC26A9_uc001hdo.3_Silent_p.P274P|SLC26A9_uc001hdq.3_Silent_p.P606P	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	606	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGTCGGTGGGGGGCGCATTCT	0.617000														11			4		0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754516	49754516	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:49754516C>T	uc003ozu.3	-	0	538	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	129					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.E129D(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCCTTCCCTTCTTCCTCCACA	0.517000														75			28		0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46669719	46669719	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:46669719C>T	uc002inr.3	-	1	721	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	HOXB3_uc010wlm.2_5'Flank|HOXB3_uc010dbf.3_5'Flank|HOXB3_uc010dbg.3_5'Flank|HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Non-coding_Transcript|HOXB-AS3_uc021tzj.1_Non-coding_Transcript	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	221						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GCGCCGTCGCCGGGTCAGGTA	0.607000														75			49		0	0	1	0	0
AB231721	0	broad.mit.edu	37	11	58660160	58660160	+	RNA	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:58660160G>A	uc001nne.1	+	1		c.100G>A								Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit13-03-08-F.																		TAGGTGAGGGGATAAGAGCAG	0.413000														28			16		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152644623	152644623	+	Missense_Mutation	SNP	G	A	A	rs149215868		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:152644623G>A	uc021zhb.1	-	79	16130	c.15907C>T	c.(15907-15909)Cgg>Tgg	p.R5303W	SYNE1_uc003qot.4_Missense_Mutation_p.R5232W|SYNE1_uc003qou.4_Missense_Mutation_p.R5303W|SYNE1_uc010kiz.3_Missense_Mutation_p.R1058W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5303					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAGGCACCGATCTTGCATG	0.537000										HNSCC(10;0.0054)				11			21		0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34042970	34042970	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:34042970G>A	uc003jio.3	-	0	402	c.261C>T	c.(259-261)ccC>ccT	p.P87P	C1QTNF3_uc003jin.3_Intron	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	0	Collagen-like.					collagen		p.P87P(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CATCTACCTCGGGGTGCGGTA	0.468000														86			60		0	0	1	0	0
LOC494141	494141	broad.mit.edu	37	11	18232101	18232101	+	RNA	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:18232101G>A	uc009yhh.3	+	1		c.1125G>A			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		AAGGTTATATGAAAAAAAACA	0.383000														16			6		0	0	1	0	0
PSMG3	84262	broad.mit.edu	37	7	1607478	1607478	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:1607478G>C	uc003skx.2	-	1	879	c.225C>G	c.(223-225)atC>atG	p.I75M	PSMG3_uc011jvx.1_Missense_Mutation_p.I75M|KIAA1908_uc003sla.3_5'Flank	NM_032302	NP_115678	Q9BT73	PSMG3_HUMAN	Homo sapiens proteasome (prosome, macropain) assembly chaperone 3 (PSMG3), transcript variant 1, mRNA.	75										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		CAAAGACATGGATGAGAGGCT	0.483000														38			11		0	0	1	0	0
ZNF691	51058	broad.mit.edu	37	1	43317029	43317029	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:43317029C>T	uc021omh.1	+	3	795	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	ZNF691_uc001cig.3_Missense_Mutation_p.H134Y|ZNF691_uc009vwm.3_Missense_Mutation_p.H154Y|ZNF691_uc001cih.3_Missense_Mutation_p.H161Y|ZNF691_uc021omi.1_Missense_Mutation_p.H134Y	NM_001242739	NP_001229668	Q5VV52	ZN691_HUMAN	Homo sapiens zinc finger protein 691 (ZNF691), transcript variant 1, mRNA.	165						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGAGCGGATCCACCTGGAAGA	0.572000														21			19		0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70698939	70698940	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:70698939_70698940CC>TT	uc002ezj.3	-	12	1448_1449	c.1188_1189GG>AA	c.(1186-1191)aaggac>aaAAac	p.D397N		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	Homo sapiens metastasis suppressor 1-like (MTSS1L), mRNA.	397					filopodium assembly|signal transduction		SH3 domain binding|actin binding|cytoskeletal adaptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCCACTCGGTCCTTCCTCCGCT	0.708000														12			12		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92592355	92592355	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:92592355G>A	uc001pdj.4	+	19	11542	c.11525G>A	c.(11524-11526)gGa>gAa	p.G3842E	FAT3_uc001pdi.4_Missense_Mutation_p.G282E	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3842	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTTTGCTGGAAACAGTTAC	0.388000										TCGA Ovarian(4;0.039)				29			12		0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14378242	14378242	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:14378242C>T	uc003ssz.3	-	21	2210	c.2023G>A	c.(2023-2025)Gga>Aga	p.G675R	DGKB_uc011jxt.2_Missense_Mutation_p.G656R|DGKB_uc003sta.3_Missense_Mutation_p.G675R|DGKB_uc011jxu.2_Missense_Mutation_p.G674R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	675					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.G675V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTAGACTCTCCCCAAAGATTG	0.413000														41			23		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32090247	32090247	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:32090247C>T	uc003jhl.3	+	19	7081	c.6693C>T	c.(6691-6693)agC>agT	p.S2231S	PDZD2_uc003jhm.3_Silent_p.S2231S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2231					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						AGTTCTCAAGCCATTTTGGAC	0.627000														210			138		0	0	1	0	0
PITX1	5307	broad.mit.edu	37	5	134364803	134364803	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:134364803G>A	uc010jea.3	-	2	1004	c.611C>T	c.(610-612)tCc>tTc	p.S204F		NM_002653	NP_002644	P78337	PITX1_HUMAN	Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.	204	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGGGCTCATGGAGTTGAAGAA	0.637000														49			34		0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48491531	48491531	+	Silent	SNP	C	T	T	rs150341628	byFrequency	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:48491531C>T	uc003ctf.1	+	1	368	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ATRIP_uc011bbj.1_5'UTR|ATRIP_uc003ctg.1_Silent_p.F112F	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	112					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGATAATTTCGAATTAGAGG	0.318000								Other conserved DNA damage response genes						11			45		0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135863856	135863856	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:135863856G>A	uc004ccg.3	+	4	865	c.510_splice	c.e4+1	p.K170_splice	GFI1B_uc010mzy.3_Splice_Site_p.K170_splice	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	170	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GTGCAACAAGGTGGGCAGCGG	0.632000														18			11		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168110632	168110632	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:168110632C>T	uc002udx.3	+	9	10735	c.10646C>T	c.(10645-10647)tCa>tTa	p.S3549L	XIRP2_uc010fpn.3_Missense_Mutation_p.H456Y|XIRP2_uc010fpo.3_Missense_Mutation_p.H423Y|XIRP2_uc010fpq.3_Missense_Mutation_p.S3327L|XIRP2_uc010fpr.3_Missense_Mutation_p.H201Y	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3374					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCAGAATTTTCATAAGTCCTG	0.383000														16			23		0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113425079	113425079	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:113425079C>T	uc001tuj.3	+	1	554	c.414C>T	c.(412-414)atC>atT	p.I138I	OAS2_uc001tuh.3_Silent_p.I138I|OAS2_uc001tui.1_Silent_p.I138I	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	138	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATCAGAGAATCTCTTTCGAGG	0.488000														31			29		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					36			112		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056557	9056557	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:9056557C>T	uc002mkp.3	-	2	31093	c.30889G>A	c.(30889-30891)Gcc>Acc	p.A10297T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10299	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGAGATGGCTCGTGGAACT	0.522000														61			31		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701056	17701056	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:17701056C>T	uc002grm.3	+	2	5263	c.4794C>T	c.(4792-4794)ttC>ttT	p.F1598F	RAI1_uc002grn.1_Silent_p.F1598F	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1598						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCTCACCCTTCGTGCGGGTGG	0.612000														77			61		0	0	1	0	0
INHBE	83729	broad.mit.edu	37	12	57849580	57849580	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:57849580G>A	uc001snw.3	+	0	485	c.261G>A	c.(259-261)ggG>ggA	p.G87G		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	87					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TGGCTCCAGGGAATGGGGAGG	0.602000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			15		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL									29			5		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103338453	103338454	+	Missense_Mutation	DNP	CT	GG	GG			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:103338453_103338454CT>GG	uc022ajr.1	-	9	1149_1150	c.989_990AG>CC	c.(988-990)cag>cCC	p.Q330P	RELN_uc022ajq.1_Missense_Mutation_p.Q330P|RELN_uc010liz.3_Missense_Mutation_p.Q330P	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	330					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAAGATTTTCCTGCTTCCACTG	0.450000														82			178		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90193280	90193280	+	RNA	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:90193280G>A	uc010yts.2	+	34		c.4137G>A								Parts of antibodies, mostly variable regions.																		CTAAGCTCCTGATCTATGATG	0.537000														196			36		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132471144	132471144	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:132471144C>T	uc001ujn.3	+	5	2167	c.2015C>T	c.(2014-2016)cCt>cTt	p.P672L	EP400_uc021rgq.1_Missense_Mutation_p.P671L|EP400_uc001ujm.3_Missense_Mutation_p.P672L|EP400_uc001ujj.2_Missense_Mutation_p.P635L|EP400_uc001ujk.3_Missense_Mutation_p.P708L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	708					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCCCTCGCGCCTGTGAGTGGC	0.632000														53			40		0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7950260	7950260	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:7950260G>A	uc002gju.3	+	9	1439	c.1323G>A	c.(1321-1323)ttG>ttA	p.L441L	ALOX15B_uc002gjv.3_Silent_p.L412L|ALOX15B_uc002gjw.3_Silent_p.L412L|ALOX15B_uc010vun.2_Silent_p.L441L|ALOX15B_uc010cnp.3_Silent_p.L247L	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	441	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TCTCTGAGTTGATACAGAGGA	0.532000														29			37		0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37203746	37203746	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:37203746C>T	uc010xtl.2	+	4	422	c.200C>T	c.(199-201)tCa>tTa	p.S67L	ZNF567_uc002oeo.1_Missense_Mutation_p.S67L|ZNF567_uc010xtk.1_Missense_Mutation_p.S67L|ZNF567_uc002oep.4_Missense_Mutation_p.S36L|ZNF567_uc002oeq.1_Missense_Mutation_p.S36L	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCATGGACATCATTTGCAGGT	0.443000														22			8		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896912	175896912	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:175896912C>T	uc003iuc.3	+	4	906	c.236C>T	c.(235-237)cCt>cTt	p.P79L	ADAM29_uc003iud.3_Missense_Mutation_p.P79L|ADAM29_uc010irr.3_Missense_Mutation_p.P79L|ADAM29_uc011cki.2_Missense_Mutation_p.P79L|ADAM29_uc021xuo.1_Missense_Mutation_p.P79L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	79					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAACACCTCCCTGTGTTCACC	0.483000														18			20		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90020726	90020726	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:90020726G>A	uc003kju.3	+	45	9922	c.9826G>A	c.(9826-9828)Gaa>Aaa	p.E3276K	GPR98_uc003kjt.3_Missense_Mutation_p.E982K|GPR98_uc003kjv.3_Missense_Mutation_p.E876K	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3276					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.E3276K(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTACTTTGGAAAATTTAAT	0.328000														34			20		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79386016	79386016	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:79386016G>A	uc001diq.4	-	9	1469	c.1313C>T	c.(1312-1314)tCa>tTa	p.S438L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	438					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		ACAAATCAGTGAAATAATTAT	0.303000														31			43		0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49308219	49308219	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:49308219G>A	uc001rso.3	+	2	560	c.333G>A	c.(331-333)gaG>gaA	p.E111E		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	111										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AAGCCGAGGAGCAGTACGCCC	0.502000														39			26		0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108636231	108636231	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrX:108636231C>T	uc022cch.1	-	11	2563	c.2478G>A	c.(2476-2478)cgG>cgA	p.R826R	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.R826R	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	826					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			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCTCCAACATCCGAAGCATAG	0.353000														13			44		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870939	51870939	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:51870939G>A	uc002xwo.3	+	1	1829	c.942G>A	c.(940-942)tcG>tcA	p.S314S	TSHZ2_uc021wex.1_Silent_p.S311S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	314					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCATTTCCTCGAAAATGGTCA	0.453000														51			40		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150690942	150690942	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:150690942G>A	uc003wif.3	+	1	347	c.51G>A	c.(49-51)ctG>ctA	p.L17L	NOS3_uc011kuy.2_Intron|NOS3_uc011kva.2_Silent_p.L17L|NOS3_uc011kuz.2_Silent_p.L17L|NOS3_uc011kvb.2_Silent_p.L17L	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	17					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTGCGGCCTGGGGCTGGGGC	0.706000														81			20		0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978344	247978344	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:247978344C>T	uc001idm.1	-	0	688	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GACTGGCCTTCTGTGGAAGGG	0.408000														55			22		0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12458381	12458381	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:12458381G>A	uc003bwx.3	+	5	1089	c.998G>A	c.(997-999)gGt>gAt	p.G333D	PPARG_uc003bwr.3_Missense_Mutation_p.G305D|PPARG_uc003bws.3_Missense_Mutation_p.G305D|PPARG_uc003bwu.3_Missense_Mutation_p.G305D|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	333	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AGCATTCCTGGTTTTGTAAAT	0.483000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							8			26		0	0	1	0	0
LINC00477	144360	broad.mit.edu	37	12	24736484	24736484	+	RNA	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:24736484G>A	uc001rgb.1	-	0		c.619C>T								Homo sapiens long intergenic non-protein coding RNA 477 (LINC00477), non-coding RNA.																		CATGCCTCTGGGGTGAAAATC	0.527000														22			21		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454983	187454983	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:187454983C>T	uc003izd.1	-	1	931	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	305					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	CTCCTGTATTCCTTCCTGAAA	0.473000														79			61		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119735476	119735476	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:119735476G>A	uc002tln.1	+	7	863	c.731G>A	c.(730-732)gGa>gAa	p.G244E	MARCO_uc010yyf.1_Missense_Mutation_p.G166E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	244	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGGAAACTGGAACTAAGGGA	0.602000														12			9		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49409343	49409343	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:49409343G>A	uc001jgi.3	-	14	2213	c.1882C>T	c.(1882-1884)Ctg>Ttg	p.L628L	FRMPD2_uc001jgh.3_Silent_p.L596L|FRMPD2_uc001jgj.3_Silent_p.L597L	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	628	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGAGGTCCAGTAAGTATTTA	0.453000														6			41		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61938855	61938855	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:61938855C>T	uc011aau.2	+	5	610	c.510C>T	c.(508-510)ttC>ttT	p.F170F	COL20A1_uc011aav.2_5'UTR	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	170					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCCCCCAGTTCCGCTGCCTGC	0.682000														23			10		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133252035	133252035	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:133252035T>C	uc001uks.1	-	11	1219	c.1175A>G	c.(1174-1176)gAc>gGc	p.D392G	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.D365G	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	392					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCCCTGGCTGTCCTTCTGGAA	0.612000								DNA polymerases (catalytic subunits)						47			34		0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66081782	66081782	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:66081782G>A	uc001dci.3	+	14	2476	c.2087G>A	c.(2086-2088)gGa>gAa	p.G696E	LEPR_uc001dcg.3_Missense_Mutation_p.G696E|LEPR_uc001dch.3_Missense_Mutation_p.G696E|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.G696E|LEPR_uc001dcj.3_Missense_Mutation_p.G696E|LEPR_uc001dck.3_Missense_Mutation_p.G696E	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	696	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GAAGATGTGGGAAATCACACG	0.398000														29			31		0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80732954	80732954	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:80732954C>T	uc001szd.3	+	41	4939	c.4933C>T	c.(4933-4935)Cta>Tta	p.L1645L		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TCCAGCTGGACTAATCATAAA	0.423000														74			63		0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17331559	17331559	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:17331559G>A	uc001baa.2	-	3	487	c.297C>T	c.(295-297)tcC>tcT	p.S99S	ATP13A2_uc001bac.2_Silent_p.S99S|ATP13A2_uc001bab.2_Silent_p.S99S	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	99					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGAGCTGCCAGGAACTATCCT	0.637000														17			23		0	0	1	0	0
GPC6	10082	broad.mit.edu	37	13	94482746	94482746	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:94482746C>T	uc001vlt.3	+	2	1291	c.659C>T	c.(658-660)aCc>aTc	p.T220I	GPC6_uc010tig.1_Missense_Mutation_p.T220I|GPC6_uc001vlu.1_Missense_Mutation_p.T150I	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	220						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCTGCCAGGACCTTTGTCCAG	0.488000														23			19		0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42753108	42753108	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:42753108G>A	uc002ote.4	-	3	1314	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	ERF_uc002otd.4_Missense_Mutation_p.R117C	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	386					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CGCTGCCGGCGTCCGAGTGGG	0.687000														132			27		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138030215	138030215	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:138030215C>T	uc002tva.1	+	9	2286	c.2286C>T	c.(2284-2286)tcC>tcT	p.S762S	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.S652S	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AAGATGTTTCCTTGTGTCCTG	0.383000														19			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434448	179434448	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:179434448G>A	uc021vsy.1	-	274	68932	c.68707C>T	c.(68707-68709)Ctg>Ttg	p.L22903L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L16598L|TTN_uc021vta.1_Silent_p.L16531L|TTN_uc021vtb.1_Silent_p.L16406L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23830	Fibronectin type-III 66.						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)			TTTTCCAACAGCTTCTCTACT	0.378000														27			10		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19339370	19339370	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:19339370G>A	uc002nlz.3	+	7	3040	c.2941G>A	c.(2941-2943)Gag>Aag	p.E981K	NCAN_uc010ecc.1_Missense_Mutation_p.E545K	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	981					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCCGGGTGTAGAGAGCTTCTG	0.647000														61			50		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159493933	159493933	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:159493933C>T	uc003ipz.3	+	1	396	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_5'UTR|RXFP1_uc010iqo.3_Silent_p.L45L|RXFP1_uc011cjb.2_5'UTR|RXFP1_uc011cjc.2_5'UTR|RXFP1_uc011cjd.2_5'UTR|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Silent_p.L45L|RXFP1_uc010iqm.3_Silent_p.L45L|RXFP1_uc011cjf.2_5'UTR|RXFP1_uc010iqn.3_Intron	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	45	LDL-receptor class A.					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GCCTCAGCTCCTGCACTGTAA	0.552000														44			44		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38023375	38023375	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:38023375G>A	uc010efm.3	+	5	575	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	ZNF793_uc010xts.2_Missense_Mutation_p.V45I	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGCAACCTCGTCTCAGTGGG	0.507000														25			10		0	0	1	0	0
KIAA1967	57805	broad.mit.edu	37	8	22474945	22474945	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:22474945C>T	uc003xch.3	+	14	2107	c.1858C>T	c.(1858-1860)Ctt>Ttt	p.L620F	KIAA1967_uc003xci.3_Missense_Mutation_p.L620F|KIAA1967_uc003xcj.1_Missense_Mutation_p.L289F	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	620					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GGAGGATGGGCTTTTGCCCAA	0.502000														70			54		0	0	1	0	0
TPMT	7172	broad.mit.edu	37	6	18139929	18139929	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:18139929G>A	uc003ncm.3	-	4	541	c.386C>T	c.(385-387)tCa>tTa	p.S129L	TPMT_uc010jpm.1_Missense_Mutation_p.S129L	NM_000367	NP_000358	P51580	TPMT_HUMAN	Homo sapiens thiopurine S-methyltransferase (TPMT), mRNA.	129					xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)	ACAGTACAATGAAATGTTCCC	0.353000														21			33		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117185685	117185686	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:117185685_117185686CC>TT	uc004biy.4	-	6	1025_1026	c.385_386GG>AA	c.(385-387)ggg>AAg	p.G129K	DFNB31_uc004bix.3_Missense_Mutation_p.G161K|DFNB31_uc004biz.4_Missense_Mutation_p.G512K|DFNB31_uc004bja.4_Missense_Mutation_p.G512K	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	512					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTCCCCAGCCCCGGGGCCTGGG	0.644000														66			46		0	0	1	0	0
GAST	2520	broad.mit.edu	37	17	39871808	39871808	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:39871808G>A	uc002hxl.3	+	1	187	c.120G>A	c.(118-120)agG>agA	p.R40R	JUP_uc010wfs.2_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	Homo sapiens gastrin (GAST), mRNA.	40		Cleavage.				extracellular region	hormone activity	p.N39D(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GGGCCAACAGGGACCTGGAGC	0.632000														82			52		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62371063	62371063	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:62371063G>A	uc003xuh.3	+	4	1263	c.939G>A	c.(937-939)tcG>tcA	p.S313S	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	313					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATACGTCCTCGAATCTGGAGA	0.493000														13			13		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278836	130278836	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:130278836C>T	uc001qgg.4	-	7	2109	c.1751_splice	c.e7-1	p.G584_splice	ADAMTS8_uc001qgf.3_Splice_Site_p.G65_splice	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	584	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AAGCTTTTCCCTAGAAAGAGG	0.498000														40			27		0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105929534	105929534	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:105929534C>T	uc001yqx.3	+	10	1143	c.956C>T	c.(955-957)tCg>tTg	p.S319L	MTA1_uc001yqy.3_Missense_Mutation_p.S319L|MTA1_uc021seq.1_Missense_Mutation_p.S319L|MTA1_uc001yrb.3_Missense_Mutation_p.S80L	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	319	SANT.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CCGTGGAAGTCGCTGACCAGC	0.652000														80			65		0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72690700	72690700	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:72690700C>T	uc002auq.3	+	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	11						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCTTGACTTTCCACAGTCCTG	0.448000														13			8		0	0	1	0	0
ASMTL	8623	broad.mit.edu	37	X	1544511	1544511	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrX:1544511C>T	uc004cpx.2	-	7	1104	c.967G>A	c.(967-969)Gat>Aat	p.D323N	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.D307N|ASMTL_uc011mhe.2_Missense_Mutation_p.D247N|ASMTL_uc011mhf.2_Missense_Mutation_p.D265N	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	323	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGCAATATCCGCAGCCTTC	0.522000														13			9		0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233620964	233620964	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:233620964C>T	uc002vtj.4	+	6	566	c.299C>T	c.(298-300)gCt>gTt	p.A100V	GIGYF2_uc010zmj.1_Missense_Mutation_p.A100V|GIGYF2_uc002vtg.2_Missense_Mutation_p.A100V|GIGYF2_uc002vti.4_Missense_Mutation_p.A100V|GIGYF2_uc002vtk.4_Missense_Mutation_p.A100V|GIGYF2_uc002vth.4_Missense_Mutation_p.A100V|GIGYF2_uc010zmk.2_Non-coding_Transcript	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	100					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AATAGTGCTGCTGTCCTGCGA	0.398000														18			14		0	0	1	0	0
ETNK2	55224	broad.mit.edu	37	1	204115774	204115774	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:204115774G>A	uc001han.4	-	2	964	c.637C>T	c.(637-639)Ccc>Tcc	p.P213S	ETNK2_uc010pqr.2_Missense_Mutation_p.P35S|ETNK2_uc001hao.4_Missense_Mutation_p.P213S|ETNK2_uc010pqs.2_Intron|ETNK2_uc010pqt.2_Missense_Mutation_p.P35S			Q9NVF9	EKI2_HUMAN	Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.	213							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGTACCTGGGGTTGATCTCG	0.522000														98			44		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77303873	77303873	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:77303873C>T	uc003hkb.4	-	7	957	c.804_splice	c.e7-1	p.R268_splice	CCDC158_uc003hkd.3_Splice_Site_p.R268_splice	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	268										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTGCTCAATCCTATAAAAAG	0.318000														27			18		0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201970534	201970534	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:201970534C>T	uc001gxd.3	+	6	1264	c.1235C>T	c.(1234-1236)aCc>aTc	p.T412I	RNPEP_uc001gxe.3_Missense_Mutation_p.T113I	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	412					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TATAATGAGACCCCCTACGAG	0.493000														57			12		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54420781	54420781	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:54420781G>A	uc003dhf.3	+	3	409	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E27K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	121						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCTGAAACATGAATTTGATGC	0.393000														9			3		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799688	133799688	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:133799688G>A	uc004bzz.3	-	2	893	c.648C>T	c.(646-648)ccC>ccT	p.P216P	FIBCD1_uc011mcc.2_Silent_p.P216P	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	216					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCTTGTTGCGGGGCCGGCCCA	0.706000														14			14		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11012923	11012923	+	RNA	SNP	T	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr21:11012923T>C	uc002yis.1	-	8		c.1698A>G						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACCTAGCTTTTTTACTTTT	0.289000														17			12		0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73686708	73686708	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:73686708G>A	uc001oup.1	-	6	1023	c.643C>T	c.(643-645)Cct>Tct	p.P215S		NM_003355	NP_003346	P55851	UCP2_HUMAN	Homo sapiens uncoupling protein 2 (mitochondrial, proton carrier) (UCP2), nuclear gene encoding mitochondrial protein, mRNA.	215					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					AAGTGGCAAGGGAGGTCATCT	0.522000														35			27		0	0	1	0	0
CBX8	57332	broad.mit.edu	37	17	77768504	77768504	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:77768504G>A	uc002jxd.2	-	4	1218	c.1100C>T	c.(1099-1101)aCc>aTc	p.T367I		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	367					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex|nuclear chromatin	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			AAAGTTTGAGGTCACGTCCGT	0.542000														70			60		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10534974	10534974	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:10534974C>T	uc002gmq.2	-	35	5328	c.5240G>A	c.(5239-5241)aGg>aAg	p.R1747K		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1747					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CCTTGCATCCCTGCTGGCATC	0.567000											OREG0024180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			10		0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167728728	167728728	+	Missense_Mutation	SNP	C	T	T	rs142367645	byFrequency	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:167728728C>T	uc003qvq.3	+	7	1337	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	UNC93A_uc003qvr.3_Missense_Mutation_p.R346C	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	388						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGCCAATTACCGCCTGTGGGA	0.582000														30			74		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784063	9784063	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:9784063A>G	uc003gmb.4	+	0	806	c.410A>G	c.(409-411)gAc>gGc	p.D137G		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	137					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.D137G(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	ATCAGCGTGGACCGCTACTGG	0.612000														37			3		0	0	1	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1148486	1148486	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:1148486C>T	uc001adf.3	-	1	866	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	TNFRSF4_uc001ade.3_Intron			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	82					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGCAGGGGCCGGATGGGGGG	0.697000														10			8		0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104645310	104645310	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:104645310G>A	uc021rcx.1	+	1	119	c.97G>A	c.(97-99)Gat>Aat	p.D33N	TXNRD1_uc001tkm.1_Missense_Mutation_p.D36N	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	33					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TCTAGCTAAAGATCATCACCC	0.418000														19			8		0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616785	248616785	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:248616785G>A	uc001iek.1	+	0	687	c.687G>A	c.(685-687)atG>atA	p.M229I		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCACAGGATGAACTCTGCTG	0.547000														47			21		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34500828	34500828	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:34500828C>T	uc003zum.3	+	10	1203	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	337					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCCGTCACTGCCCTCTGCTGG	0.547000									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			15		0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850601	3850601	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:3850601G>A	uc003mvu.3	+	1	668	c.556G>A	c.(556-558)Gag>Aag	p.E186K	FAM50B_uc021ykt.1_Missense_Mutation_p.E186K	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	186						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGAGGAGATGGAGGTCACCTT	0.677000														91			26		0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729866	41729866	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:41729866G>A	uc003thq.3	-	1	898	c.663C>T	c.(661-663)ttC>ttT	p.F221F	INHBA_uc003thr.3_Silent_p.F221F	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	221					G1/S transition of mitotic cell cycle|cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGGAGACAGGGAAGACATGCC	0.592000										TSP Lung(11;0.080)				26			20		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10603436	10603436	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:10603436C>T	uc010rcc.1	-	18	2724	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.E772K|MRVI1_uc001miw.2_Missense_Mutation_p.E771K|MRVI1_uc001mix.3_Missense_Mutation_p.E465K|MRVI1_uc001miz.2_Missense_Mutation_p.E689K|MRVI1_uc010rcd.1_Missense_Mutation_p.E574K|MRVI1_uc009ygd.1_Missense_Mutation_p.E465K|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	753	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		p.E780*(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCTTCTTCCTCCATCCTGGCC	0.557000														45			29		0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52788920	52788920	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:52788920G>A	uc001sai.1	-	8	1496	c.1381C>T	c.(1381-1383)Ctc>Ttc	p.L461F		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	461	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCAGTGCTGAGGACAGGCGTG	0.642000														23			32		0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35231525	35231525	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:35231525C>G	uc002nvu.3	+	3	702	c.239C>G	c.(238-240)tCa>tGa	p.S80*	ZNF181_uc010xsb.1_Nonsense_Mutation_p.S79*|ZNF181_uc010xsc.1_Nonsense_Mutation_p.S15*	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GATTGGGAATCAAGATGGGAA	0.279000														69			34		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269218	1269218	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:1269218C>T	uc001lta.3	+	30	11167	c.11108C>T	c.(11107-11109)aCt>aTt	p.T3703I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3703	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACTACGACTGAGTCCACT	0.662000														98			89		0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27889630	27889631	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:27889630_27889631GG>AA	uc002hed.2	-	1	1413_1414	c.1355_1356CC>TT	c.(1354-1356)tcc>tTT	p.S452F		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	452						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGTTGGAAGAGGAAGAGACTTC	0.554000														71			34		0	0	1	0	0
NTSR1	4923	broad.mit.edu	37	20	61391531	61391531	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:61391531G>C	uc002ydf.3	+	3	1540	c.1169G>C	c.(1168-1170)aGg>aCg	p.R390T		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	390						Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGGCGCAGGAGGAAGAGGCCA	0.642000														50			41		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139258054	139258054	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:139258054G>A	uc003vvf.4	-	14	3487	c.3216C>T	c.(3214-3216)tcC>tcT	p.S1072S	HIPK2_uc003vvd.4_Silent_p.S1045S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	1072	Autoinhibitory domain (AID).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGTGCGGGAAGGAGTACGGAG	0.677000														63			156		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183869323	183869323	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:183869323C>T	uc001gqm.3	+	11	1836	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	RGL1_uc010pof.1_Silent_p.L229L|RGL1_uc010pog.2_Silent_p.L422L|RGL1_uc010poh.2_Silent_p.L422L|RGL1_uc001gqo.3_Silent_p.L424L|RGL1_uc010poi.2_Intron	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	424	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GGGCACCTTCCTGACTGACCT	0.522000														41			70		0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77896063	77896063	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:77896063C>T	uc022awg.1	-	0	352	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	PEX2_uc003yax.3_Missense_Mutation_p.E118K|PEX2_uc003yay.3_Missense_Mutation_p.E118K|PEX2_uc022awe.1_Missense_Mutation_p.E118K|PEX2_uc022awf.1_Missense_Mutation_p.E118K	NM_001172087	NP_001165558	P28328	PEX2_HUMAN	Homo sapiens peroxisomal biogenesis factor 2 (PEX2), transcript variant 4, mRNA.	118					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding	p.E117D(1)|p.E118A(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TAGCATCGTTCTTCTAACCAC	0.378000														21			28		0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35211490	35211490	+	Missense_Mutation	SNP	C	T	T	rs141155638		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:35211490C>T	uc001mvu.3	+	4	979	c.545C>T	c.(544-546)tCc>tTc	p.S182F	CD44_uc021qfw.1_Missense_Mutation_p.S182F|CD44_uc001mvv.3_Missense_Mutation_p.S182F|CD44_uc001mvw.3_Missense_Mutation_p.S182F|CD44_uc001mwc.4_Missense_Mutation_p.S182F|CD44_uc001mvx.3_Missense_Mutation_p.S182F|CD44_uc010rer.2_Missense_Mutation_p.S182F|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Non-coding_Transcript|CD44_uc010reu.2_5'UTR|CD44_uc010res.2_5'UTR|CD44_uc010ret.2_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	182					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGCAGCGGCTCCTCCAGTGAA	0.517000														37			20		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503739	140503739	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:140503739C>T	uc003lip.1	+	0	2159	c.2159C>T	c.(2158-2160)tCg>tTg	p.S720L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	720					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCGGCCTCGGTGGGTCGC	0.672000														84			77		0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776621	159776621	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:159776621G>A	uc003lyd.3	-	2	551	c.547C>T	c.(547-549)Cca>Tca	p.P183S		NM_031908	NP_114114	Q9BXJ5	C1QT2_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 2 (C1QTNF2), mRNA.	138	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGGCCTGGGAGGCCTGGC	0.657000														75			47		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058359	9058359	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:9058359C>T	uc002mkp.3	-	2	29291	c.29087G>A	c.(29086-29088)gGa>gAa	p.G9696E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTGAAAGTCCTTGAGACAT	0.488000														26			19		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9438089	9438089	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:9438089G>A	uc021wam.1	+	29	3004	c.2989G>A	c.(2989-2991)Gaa>Aaa	p.E997K	PLCB4_uc010gbw.1_Missense_Mutation_p.E997K|PLCB4_uc010gbx.3_Missense_Mutation_p.E1009K|PLCB4_uc021wal.1_Missense_Mutation_p.E997K|PLCB4_uc002wnh.3_Missense_Mutation_p.E844K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	997					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATGAAAAAAGAAACAGAAAT	0.358000														18			7		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97157951	97157951	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:97157951C>T	uc021rcc.1	+	25	3416	c.3338C>T	c.(3337-3339)tCt>tTt	p.S1113F				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1113										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGAAGTAGTTCTGTTAAAGAA	0.333000														22			8		0	0	1	0	0
ARFRP1	10139	broad.mit.edu	37	20	62333528	62333528	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:62333528G>A	uc002ygf.3	-	4	449	c.306C>T	c.(304-306)tcC>tcT	p.S102S	ARFRP1_uc002yga.3_Silent_p.S102S|ARFRP1_uc011abf.2_Silent_p.S102S|ARFRP1_uc002ygh.4_Silent_p.S102S|ARFRP1_uc002ygc.3_Silent_p.S102S|ARFRP1_uc011abg.2_Silent_p.S102S|ARFRP1_uc011abh.2_Non-coding_Transcript	NM_003224	NP_003215	Q13795	ARFRP_HUMAN	Homo sapiens ADP-ribosylation factor related protein 1 (ARFRP1), transcript variant 1, mRNA.	102					small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			CCTCGTCGGTGGAGTCAATGA	0.627000														31			20		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38776432	38776432	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:38776432G>A	uc003gtj.3	-	3	1418	c.780C>T	c.(778-780)ttC>ttT	p.F260F	TLR10_uc021xnk.1_Silent_p.F246F|TLR10_uc003gti.3_Silent_p.F260F|TLR10_uc021xnl.1_Silent_p.F260F|TLR10_uc003gtk.3_Silent_p.F260F|TLR10_uc021xnm.1_Silent_p.F260F	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	260					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTAAGATAAGGAAAAGGTCGT	0.343000														21			14		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566790	4566790	+	Missense_Mutation	SNP	C	T	T	rs61751908	byFrequency	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:4566790C>T	uc010qyf.2	+	0	370	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGATCGCTACGTGGC	0.527000														41			32		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125035755	125035755	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:125035755C>T	uc003yqw.3	+	17	2411	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	735						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGCCCGCATCGCCTCCAAAG	0.517000														63			45		0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25745418	25745418	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:25745418G>A	uc003xes.2	-	8	1087	c.822C>T	c.(820-822)atC>atT	p.I274I	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	274	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGTTGTCCCCGATGATGATGA	0.498000														37			23		0	0	1	0	0
TM4SF5	9032	broad.mit.edu	37	17	4686149	4686149	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:4686149G>A	uc002fyw.1	+	4	427	c.396_splice	c.e4-1	p.A132_splice		NM_003963	NP_003954	O14894	T4S5_HUMAN	Homo sapiens transmembrane 4 L six family member 5 (TM4SF5), mRNA.	132						integral to plasma membrane				large_intestine(2)|lung(3)|ovary(1)	6						CCTCCCACAGGGGAGCTTACT	0.667000														28			11		0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51767281	51767281	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:51767281T>A	uc001csl.3	-	11	1229	c.1124A>T	c.(1123-1125)tAc>tTc	p.Y375F	TTC39A_uc001csk.3_Missense_Mutation_p.Y340F|TTC39A_uc010ond.2_Missense_Mutation_p.Y312F|TTC39A_uc010one.2_Missense_Mutation_p.Y339F|TTC39A_uc010onf.2_Missense_Mutation_p.Y343F|TTC39A_uc001csn.3_Missense_Mutation_p.Y374F|TTC39A_uc001cso.1_3'UTR|TTC39A_uc009vyy.1_Missense_Mutation_p.Y312F	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	375							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CAGGTCGGCGTAGAAGTAGGA	0.582000														15			6		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4576330	4576330	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:4576330G>A	uc002fyi.4	-	15	2182	c.1956C>T	c.(1954-1956)ccC>ccT	p.P652P	PELP1_uc010vsf.2_Silent_p.P505P	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	652	Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CCTCAGGAGGGGGAACTGGAG	0.687000														31			25		0	0	1	0	0
ST8SIA3	51046	broad.mit.edu	37	18	55027393	55027393	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:55027393G>A	uc002lgn.3	+	3	1385	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E		NM_015879	NP_056963	O43173	SIA8C_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.	343					N-glycan processing|glycosphingolipid biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GACAAAAAAGGAACCAAATTT	0.478000														24			16		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155295184	155295184	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:155295184C>T	uc002tyt.4	+	9	1580	c.1476C>T	c.(1474-1476)atC>atT	p.I492I	GALNT13_uc002tyr.4_Silent_p.I492I|GALNT13_uc010fod.3_Missense_Mutation_p.H225Y|AX746678_uc002tyu.1_Intron	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	492	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						GACCTGTAATCATGTTAAAAT	0.343000														33			32		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280808	105280808	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chrX:105280808G>A	uc010npd.3	-	0	477	c.242C>T	c.(241-243)tCc>tTc	p.S81F	SERPINA7_uc004eme.2_Missense_Mutation_p.S81F|SERPINA7_uc010npe.2_Missense_Mutation_p.S81F	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	81					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGCCCCAAAGGAAAGCATAAC	0.498000														4			25		0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35842087	35842087	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:35842087C>T	uc001iyw.4	+	7	900	c.720C>T	c.(718-720)atC>atT	p.I240I	CCNY_uc001iyu.4_Silent_p.I186I|CCNY_uc001iyv.4_Silent_p.I186I|CCNY_uc001iyx.4_Silent_p.I186I|CCNY_uc009xmb.3_Silent_p.I215I|CCNY_uc010qet.2_Silent_p.I107I	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	240	Cyclin N-terminal.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						ACTGCCAGATCCTGAAAGACA	0.537000														13			24		0	0	1	0	0
OVOL1	5017	broad.mit.edu	37	11	65561697	65561697	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:65561697G>A	uc001ofp.3	+	1	636	c.296G>A	c.(295-297)gGc>gAc	p.G99D	OVOL1_uc001ofq.3_Missense_Mutation_p.G37D	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	99					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		AGAGACCATGGCTTCCTGCGC	0.622000														47			45		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232082	117232082	+	Missense_Mutation	SNP	G	A	A	rs121908777		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:117232082G>A	uc003vjd.3	+	13	1993	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	CFTR_uc011knq.2_Missense_Mutation_p.E27K	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	621	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	AATTTTGCATGAAGGTAGCAG	0.343000									Cystic Fibrosis					114			25		0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3190713	3190713	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:3190713G>A	uc010uws.2	+	5	1192	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.E249K|ZNF213_uc010uwt.2_Silent_p.*224*	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	249	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						AGGCCAAAGTGAGAAGTCCCT	0.627000														50			23		0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436784	16436784	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:16436784G>A	uc003zml.3	-	5	1548	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	BNC2_uc011lmw.2_Nonsense_Mutation_p.R375*|BNC2_uc003zmm.3_Nonsense_Mutation_p.R428*|BNC2_uc003zmq.1_Nonsense_Mutation_p.R484*|BNC2_uc003zmr.1_Nonsense_Mutation_p.R507*|BNC2_uc003zmp.1_Nonsense_Mutation_p.R498*|BNC2_uc010mij.1_Nonsense_Mutation_p.R392*|BNC2_uc011lmv.2_Nonsense_Mutation_p.R296*|BNC2_uc003zmo.1_Nonsense_Mutation_p.R392*|BNC2_uc003zmj.3_Nonsense_Mutation_p.R235*|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Nonsense_Mutation_p.R235*|BNC2_uc003zmn.1_Nonsense_Mutation_p.R235*	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATGGTGCATCGATGTTTGATC	0.443000														47			31		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960899	106960899	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:106960899G>A	uc001kyi.1	+	15	2376	c.2149G>A	c.(2149-2151)Gaa>Aaa	p.E717K	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	717						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGTCATGGGAGAAAGGAAAAT	0.458000														2			13		0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28967775	28967775	+	Silent	SNP	T	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:28967775T>C	uc003nlu.2	-	3	652	c.141A>G	c.(139-141)ggA>ggG	p.G47G	ZNF311_uc011dlk.1_5'UTR|ZNF311_uc003nlv.2_5'UTR	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GCGGCAGGTTTCCTTGGCTTC	0.453000														11			20		0	0	1	0	0
FAM176C	59271	broad.mit.edu	37	21	33887212	33887212	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr21:33887212C>T	uc002ypr.1	+	7	1448	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S	FAM176C_uc010glw.1_Silent_p.S343S|FAM176C_uc002yps.1_Non-coding_Transcript|FAM176C_uc002ypu.1_Silent_p.S251S	NM_058187	NP_478067	P58658	CU063_HUMAN	Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.	346						integral to membrane	sugar binding										TCAGAGAGTCCTGTGCCAAGG	0.627000														31			17		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48848431	48848431	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:48848431C>A	uc003xqi.3	-	12	1365	c.1308G>T	c.(1306-1308)gaG>gaT	p.E436D	PRKDC_uc003xqj.3_Missense_Mutation_p.E436D	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	436					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCACGAGGTGCTCCAGAACTG	0.448000								Non-homologous end-joining						17			14		1.5842e-08	1.60716e-08	1	1	0
IKZF1	10320	broad.mit.edu	37	7	50468178	50468178	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:50468178C>T	uc003tow.4	+	7	1568	c.1413C>T	c.(1411-1413)ttC>ttT	p.F471F	IKZF1_uc022acq.1_Silent_p.F328F|IKZF1_uc003tpa.4_Silent_p.F236F|IKZF1_uc022acr.1_Silent_p.F246F|IKZF1_uc022acs.1_Silent_p.F201F|IKZF1_uc022act.1_Silent_p.F374F|IKZF1_uc022acu.1_Silent_p.F384F|IKZF1_uc003tox.4_Silent_p.F429F|IKZF1_uc022acv.1_Silent_p.F332F|IKZF1_uc022acw.1_Silent_p.F342F|IKZF1_uc022acx.1_Silent_p.F384F|IKZF1_uc022acy.1_Silent_p.F278F|IKZF1_uc022acz.1_Silent_p.F288F|IKZF1_uc011kck.2_Silent_p.F384F|IKZF1_uc003toy.4_Silent_p.F429F|IKZF1_uc003toz.4_Silent_p.F441F|IKZF1_uc010kyx.3_Silent_p.F211F	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	471	Required for binding PP1CC (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGGTGCTCTTCCTGGATCACG	0.617000			"""D,T"""	BCL6	"""ALL, DLBCL"""									18			9		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5863101	5863101	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:5863101G>A	uc010qzq.2	-	0	27	c.27C>T	c.(25-27)ttC>ttT	p.F9F	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGAAGTATGGAACTGGGTGT	0.423000														34			21		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066818	23066818	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:23066818G>A	uc002wsv.3	-	0	160	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	4					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					gcagGCCCATGGAGGTGGCCA	0.706000														2			6		0	0	1	0	0
GALNTL4	374378	broad.mit.edu	37	11	11398885	11398885	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:11398885C>T	uc001mjo.2	-	4	1242	c.821G>A	c.(820-822)cGg>cAg	p.R274Q		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	274						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CGAGATGATCCGCTTCCGGTT	0.532000														27			26		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701726	8701726	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:8701726G>A	uc002glp.2	-	0	942	c.713C>T	c.(712-714)tCc>tTc	p.S238F		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	238						integral to membrane		p.S238L(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CGCCTCCAAGGACAGGTCAAA	0.612000														39			38		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62298168	62298168	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:62298168G>A	uc001ntl.3	-	4	4021	c.3721C>T	c.(3721-3723)Cca>Tca	p.P1241S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1241					nervous system development	nucleus	protein binding	p.P1241T(2)|p.P1241P(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATCTGGGGCATCAATG	0.493000														191			119		0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242793418	242793418	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:242793418G>A	uc002wcq.4	-	4	727	c.659C>T	c.(658-660)tCt>tTt	p.S220F	PDCD1_uc010fzs.3_Missense_Mutation_p.S99F|PDCD1_uc010fzt.3_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	220					T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		ATAGTCCACAGAGAACACAGG	0.632000														22			21		0	0	1	0	0
LUC7L2	51631	broad.mit.edu	37	7	139092031	139092031	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:139092031G>A	uc011kqt.2	+	6	1054	c.820G>A	c.(820-822)Gat>Aat	p.D274N	LUC7L2_uc011kqs.2_Missense_Mutation_p.D205N|LUC7L2_uc003vuy.3_Missense_Mutation_p.D207N|LUC7L2_uc003vux.3_Missense_Mutation_p.D208N|LUC7L2_uc003vuz.1_Missense_Mutation_p.D155N|LUC7L2_uc003vva.3_Missense_Mutation_p.D155N	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	208	Arg/Ser-rich.						enzyme binding|metal ion binding	p.D208N(1)		NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					ACGACTGGCTGATCATTTTGG	0.398000														21			86		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106733339	106733339	+	RNA	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:106733339G>A	uc021ser.1	-	876		c.21207C>T								Parts of antibodies, mostly variable regions.																		CCCAGTGCATGGATAATTCAG	0.547000														229			77		0	0	1	0	0
ENGASE	64772	broad.mit.edu	37	17	77082330	77082330	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:77082330C>T	uc002jwv.3	+	13	2139	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	ENGASE_uc002jww.3_Missense_Mutation_p.R416C	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	711						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CGGCCAGGATCGTCGCATGGA	0.632000														45			31		0	0	1	0	0
TEX34	124783	broad.mit.edu	37	17	43333087	43333087	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:43333087G>A	uc002iis.1	-	3	558	c.462C>T	c.(460-462)tcC>tcT	p.S154S	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Silent_p.S133S	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	154																	AGAGGTGCTTGGAGGTCTGCG	0.582000														48			32		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99693081	99693082	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:99693081_99693082GT>AA	uc003usw.1	-	11	2117_2118	c.1607_1608AC>TT	c.(1606-1608)cac>cTT	p.H536L	MCM7_uc003usv.1_Missense_Mutation_p.H360L|MCM7_uc003usx.1_Missense_Mutation_p.H360L|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	536	Interaction with RAD17.|MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CATAGGTGATGTGCTGGGCCAA	0.579000														37			7		0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242793294	242793294	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:242793294G>A	uc002wcq.4	-	4	851	c.783C>T	c.(781-783)tcC>tcT	p.S261S	PDCD1_uc010fzs.3_Silent_p.S140S|PDCD1_uc010fzt.3_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	261					T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		TGCGGGCGGGGGATGAGGTGC	0.662000														34			20		0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66063092	66063092	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:66063092G>A	uc001ohl.3	+	1	1487	c.1375G>A	c.(1375-1377)Ggc>Agc	p.G459S		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	459						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CGGAGACAGCGGCTGCCAGGG	0.682000														10			8		0	0	1	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711613	155711613	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:155711613G>A	uc002tyv.1	+	2	1489	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	432					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CAGCTTGGGAGACTTGCCCAT	0.413000														50			45		0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64684512	64684512	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:64684512C>T	uc002jfo.1	+	7	884	c.392C>T	c.(391-393)tCc>tTc	p.S131F	PRKCA_uc002jfp.1_Missense_Mutation_p.S260F			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	260					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGATCCCTTTCCTTTGGAGTT	0.463000														34			22		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24413262	24413262	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:24413262G>A	uc001bin.4	-	14	1833	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	MYOM3_uc001bim.4_Missense_Mutation_p.S214F|MYOM3_uc001bio.3_Missense_Mutation_p.S557F|MYOM3_uc001bip.1_Missense_Mutation_p.S214F	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	557	Fibronectin type-III 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GAATCTCGGGGATCTCACAGG	0.557000														45			26		0	0	1	0	0
PTPN7	5778	broad.mit.edu	37	1	202123317	202123317	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:202123317C>T	uc001gxn.2	-	5	1699	c.603G>A	c.(601-603)aaG>aaA	p.K201K	PTPN7_uc001gxl.2_Silent_p.K240K|PTPN7_uc001gxm.2_Silent_p.K306K|PTPN7_uc010ppx.2_Silent_p.K275K|PTPN7_uc010ppw.2_Silent_p.K149K|PTPN7_uc010ppy.2_Intron|PTPN7_uc001gxo.1_Silent_p.K153K	NM_002832	NP_002823	P35236	PTN7_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 7 (PTPN7), transcript variant 1, mRNA.	201	Tyrosine-protein phosphatase.					cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTCCTACCTCCTTGCCCTCTC	0.592000														21			37		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7845570	7845570	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:7845570C>T	uc001aop.3	+	1	422	c.198C>T	c.(196-198)ttC>ttT	p.F66F	PER3_uc009vmg.1_Silent_p.F66F|PER3_uc009vmh.1_Silent_p.F66F|PER3_uc001aoo.3_Silent_p.F66F|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Silent_p.F66F	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.F66V(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AAAAATACTTCCCCTCGGAGA	0.413000														31			24		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70065275	70065275	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:70065275G>A	uc001svg.3	-	8	1260	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	BEST3_uc001svd.2_Missense_Mutation_p.P345S|BEST3_uc001svf.3_Missense_Mutation_p.P132S|BEST3_uc010stm.2_Missense_Mutation_p.P239S	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	345						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTGTATGGTGGGCGAGCAGCA	0.423000														40			23		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326774	152326774	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:152326774G>A	uc001ezw.4	-	2	3561	c.3488C>T	c.(3487-3489)tCa>tTa	p.S1163L	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1163	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGCCAGATGATTGACTGGA	0.488000														62			103		0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28841264	28841264	+	Silent	SNP	T	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:28841264T>C	uc001urz.3	+	10	1758	c.1606T>C	c.(1606-1608)Ttg>Ctg	p.L536L	PAN3_uc010tdo.1_Silent_p.L536L|PAN3_uc001ury.3_Silent_p.L224L|PAN3_uc001urx.3_Silent_p.L336L	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	536	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GTGCATGGTGTTGGTCGACAT	0.378000														38			26		0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163144837	163144837	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:163144837G>A	uc002uce.3	-	4	1125	c.903C>T	c.(901-903)tcC>tcT	p.S301S		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	301					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTGGCTCCGGGGATGCTCTTG	0.473000														22			13		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407222	50407222	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:50407222G>A	uc002xwh.4	-	1	1901	c.1800C>T	c.(1798-1800)ggC>ggT	p.G600G	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	600					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAAGGCTCGGCCACAGATCT	0.517000														26			29		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21862493	21862493	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:21862493G>A	uc001war.2	-	29	5607	c.5542C>T	c.(5542-5544)Cat>Tat	p.H1848Y	CHD8_uc001was.2_Missense_Mutation_p.H1569Y|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1848					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACAAAGCCATGGAAGTACTTG	0.512000														28			24		0	0	1	0	0
FABP6	2172	broad.mit.edu	37	5	159640801	159640801	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:159640801G>A	uc003lxx.1	+	2	256	c.110G>A	c.(109-111)aGa>aAa	p.R37K	FABP6_uc003lxz.1_Missense_Mutation_p.R37K	NM_001130958	NP_001436	P51161	FABP6_HUMAN	Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 3, mRNA.	0					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCTGCAGAGAATGAAACAG	0.473000														30			21		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58196065	58196065	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:58196065G>T	uc001sqj.2	-	15	2058	c.2029C>A	c.(2029-2031)Cag>Aag	p.Q677K	TSFM_uc021qzq.1_Intron|AVIL_uc009zqe.2_Missense_Mutation_p.Q670K|AVIL_uc001sqk.1_Missense_Mutation_p.Q255K	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	677	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TGCAGGTACTGCTGTGCTGTG	0.537000														8			9		1.58986e-06	1.59747e-06	1	1	0
EVC2	132884	broad.mit.edu	37	4	5642528	5642528	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:5642528G>A	uc003gij.3	-	9	1237	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	EVC2_uc003gik.3_Silent_p.L315L|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	395						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						caagCCTCCAGATCTGCATCT	0.433000														40			33		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11012916	11012916	+	Splice_Site	SNP	C	A	A	rs4041777		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr21:11012916C>A	uc002yis.1	-	9		c.1704_splice	c.e9+1					P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAAATTTTACCTAGCTTTTT	0.299000														18			10		6.40141e-05	6.41669e-05	1	1	0
MYH2	4620	broad.mit.edu	37	17	10428920	10428920	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:10428920C>T	uc010coi.3	-	31	4513	c.4385G>A	c.(4384-4386)tGg>tAg	p.W1462*	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.W1462*|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1462					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTCTGTTTCCATTCTGCCAG	0.468000														26			22		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136073	40136073	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:40136073G>A	uc021qgf.1	-	0	1770	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	LRRC4C_uc001mxc.1_Silent_p.I586I|LRRC4C_uc001mxd.1_Silent_p.I586I|LRRC4C_uc001mxa.1_Silent_p.I590I|LRRC4C_uc001mxb.1_Silent_p.I586I	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	590					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTCATGCTCGATAGCAGGCA	0.423000														56			43		0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36259305	36259305	+	Splice_Site	SNP	G	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:36259305G>T	uc021usz.1	+	12	1375	c.1302_splice	c.e12-1	p.R434_splice		NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	434										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTTCTCCAGGGAAGCGGAT	0.632000														18			10		1.76689e-08	1.78818e-08	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58386284	58386284	+	Silent	SNP	T	C	C	rs148592080	by1000genomes	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:58386284T>C	uc002qqo.2	-	2	746	c.474A>G	c.(472-474)gcA>gcG	p.A158A	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	158				A -> V (in Ref. 1; BAH13293).	regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TACACCTCTTTGCAAACAACG	0.493000														10			5		0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155156314	155156314	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:155156314C>T	uc001fhs.1	+	9	2011	c.1928C>T	c.(1927-1929)gCc>gTc	p.A643V	TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.A517V|TRIM46_uc001fhu.1_Missense_Mutation_p.A620V|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	643	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCGAGGATGCCACAGTGGAG	0.632000														54			57		0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344193	248344193	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:248344193G>A	uc010pzf.2	+	0	906	c.906G>A	c.(904-906)atG>atA	p.M302I		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAGCATTCATGAAGATCTTAG	0.423000														95			147		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881796	69881796	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:69881796G>A	uc001jnm.4	+	2	786	c.601G>A	c.(601-603)Gat>Aat	p.D201N	MYPN_uc001jnl.1_Missense_Mutation_p.D201N|MYPN_uc001jnn.4_Intron|MYPN_uc001jno.4_Missense_Mutation_p.D201N|MYPN_uc001jnp.1_Missense_Mutation_p.D201N|MYPN_uc009xps.3_Missense_Mutation_p.D201N|MYPN_uc009xpt.3_Missense_Mutation_p.D201N|MYPN_uc010qit.2_5'UTR|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	201	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAGTTTCTCAGATCTGTCAGA	0.463000														5			17		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43279754	43279754	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr21:43279754G>A	uc002yzq.1	-	8	1089	c.978C>T	c.(976-978)ccC>ccT	p.P326P	PRDM15_uc002yzo.3_Silent_p.P63P|PRDM15_uc002yzp.3_Silent_p.P63P|PRDM15_uc002yzr.1_Silent_p.P63P	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGCCCAGCTCGGGACATTCGG	0.582000														26			12		0	0	1	0	0
C6orf195	154386	broad.mit.edu	37	6	2623880	2623880	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:2623880G>A	uc003mtw.2	-	2	1162	c.177C>T	c.(175-177)tcC>tcT	p.S59S	C6orf195_uc021ykp.1_Silent_p.S59S	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	59										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				ACCCGGGAGGGGAGAGGAGCC	0.617000														52			65		0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331906	28331906	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:28331906C>T	uc002dpd.3	+	3	1728	c.939C>T	c.(937-939)ctC>ctT	p.L313L		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	313	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TCCGCTTCCTCAAGCACGAGC	0.766000														3			7		0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124116909	124116909	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:124116909G>A	uc004blh.3	-	2	288	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	STOM_uc004bli.3_Intron|STOM_uc011lyk.2_Missense_Mutation_p.R19C	NM_004099	NP_004090	P27105	STOM_HUMAN	Homo sapiens stomatin (STOM), transcript variant 1, mRNA.	70					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TGTAAAATGCGACCCAATCTA	0.299000														26			22		0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057994	56057994	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:56057994G>A	uc010rje.2	-	0	545	c.545C>T	c.(544-546)cCa>cTa	p.P182L		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AGCTAAAATTGGAGACGTGTC	0.423000														46			30		0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104570712	104570712	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:104570712C>T	uc001yop.2	+	7	910	c.825C>T	c.(823-825)acC>acT	p.T275T	ASPG_uc001yoo.2_Silent_p.T303T|ASPG_uc001yoq.2_Silent_p.T275T|ASPG_uc001yor.2_Silent_p.T275T	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	275	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						ACGGACCCACCAAGCCCGACC	0.667000														25			15		0	0	1	0	0
C2orf61	285051	broad.mit.edu	37	2	47380147	47380147	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:47380147G>A	uc010yog.2	-	1	217	c.90C>T	c.(88-90)gcC>gcT	p.A30A	C2orf61_uc010fbd.3_Non-coding_Transcript|C2orf61_uc002rvs.2_Silent_p.A30A	NM_001163561	NP_001157033	Q8N801	CB061_HUMAN	Homo sapiens chromosome 2 open reading frame 61 (C2orf61), transcript variant 1, mRNA.	30								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AAGTCTTTTGGGCTGGTTTCT	0.318000														16			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441453	179441453	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:179441453C>T	uc021vsy.1	-	273	62039	c.61814G>A	c.(61813-61815)gGa>gAa	p.G20605E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G14300E|TTN_uc021vta.1_Missense_Mutation_p.G14233E|TTN_uc021vtb.1_Missense_Mutation_p.G14108E|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21532	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L20605I(1)		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)			TACATGATATCCTGTAATTTC	0.463000														88			67		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769687	13769687	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:13769687C>T	uc003jfd.2	-	56	9685	c.9643G>A	c.(9643-9645)Gag>Aag	p.E3215K	DNAH5_uc003jfc.2_5'Flank	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3215	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAACAGACTCTGAAGCTTCT	0.428000									Kartagener syndrome					86			6		0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17654439	17654439	+	Splice_Site	SNP	A	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:17654439A>G	uc021uqj.1	+	13	1785	c.1647_splice	c.e13+1	p.K549_splice	FAM129C_uc021uqi.1_Splice_Site_p.K549_splice|FAM129C_uc002ngy.4_Splice_Site_p.K275_splice|FAM129C_uc010xpu.2_Splice_Site_p.K275_splice|FAM129C_uc002ngz.4_Splice_Site|FAM129C_uc010eaw.3_Intron|FAM129C_uc002nhb.3_Missense_Mutation_p.K178R	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	549										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGCTGCAAAAAGGTGAGTTAA	0.532000														11			6		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111679871	111679871	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:111679871G>A	uc004bdm.4	-	8	1340	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F	IKBKAP_uc004bdl.3_5'UTR|IKBKAP_uc011lwc.2_Missense_Mutation_p.L160F|IKBKAP_uc010mtq.3_5'UTR	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	274					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.L273L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGTCCATGAAGGAGTCCATTT	0.408000														36			26		0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538237	1538237	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:1538237C>T	uc002fsz.1	-	10	2358	c.2308G>A	c.(2308-2310)Gca>Aca	p.A770T	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.A684T	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	770	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTCTGACTGCCATAGGCCCT	0.652000														14			17		0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228335363	228335363	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:228335363G>A	uc021pkf.1	+	5	576	c.501G>A	c.(499-501)gtG>gtA	p.V167V	GUK1_uc021pke.1_Silent_p.V146V|GUK1_uc001hsj.3_Silent_p.V86V|GUK1_uc001hsh.3_Silent_p.V146V|GUK1_uc001hsi.3_Silent_p.V167V|GUK1_uc010pvv.2_Silent_p.V146V|GJC2_uc001hsk.3_5'Flank	NM_001242840	NP_001229769	Q16774	KGUA_HUMAN	Homo sapiens guanylate kinase 1 (GUK1), transcript variant 5, mRNA.	146	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				AGAGCCTGGTGAAGCGGCTGG	0.647000														75			4		0	0	1	0	0
DIS3	22894	broad.mit.edu	37	13	73335837	73335837	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:73335837G>A	uc001vix.4	-	17	2832	c.2458C>T	c.(2458-2460)Cgg>Tgg	p.R820W	DIS3_uc001viy.4_Missense_Mutation_p.R790W|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	820					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTTTGTGCCGGAAATTTAGA	0.408000										Multiple Myeloma(4;0.011)				60			4		0	0	1	0	0
LRRC41	10489	broad.mit.edu	37	1	46746939	46746939	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:46746939C>T	uc001cpn.3	-	4	1658	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E	LRRC41_uc010omb.2_Silent_p.E538E	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	538										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACGTGTCAGCTCCAGGATGG	0.632000														33			27		0	0	1	0	0
GATM	2628	broad.mit.edu	37	15	45656192	45656192	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:45656192G>A	uc001zvc.3	-	7	1394	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	GATM_uc001zvb.3_Silent_p.S226S|GATM_uc010uev.1_Silent_p.S408S	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	355					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	AAAGCCATTTGGATGACATCC	0.353000														31			18		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752311	36752311	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:36752311C>T	uc001cae.4	+	3	704	c.480C>T	c.(478-480)tcC>tcT	p.S160S	THRAP3_uc001caf.4_Silent_p.S160S|THRAP3_uc001cag.1_Silent_p.S160S	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	160	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTCATCCTCCCGTTCTTCCT	0.537000			T	USP6	aneurysmal bone cysts									187			130		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54756804	54756804	+	Silent	SNP	G	A	A	rs139744787		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:54756804G>A	uc010yer.1	-	8	1488	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.F468F|LILRB5_uc002qez.3_Silent_p.F368F|LILRB5_uc002qex.3_Silent_p.F467F|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	467					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCAGCAGGACGAAGGCCACTG	0.592000														7			42		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136917538	136917538	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:136917538T>C	uc004cew.3	-	2	429	c.241A>G	c.(241-243)Atg>Gtg	p.M81V	BRD3_uc004cex.2_Missense_Mutation_p.M81V	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	81	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCCATATCCATTGGGTTTTTA	0.323000			T	C15orf55	lethal midline carcinoma of young people									26			16		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133827	31133827	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:31133827G>A	uc002rns.3	-	15	2254	c.1614C>T	c.(1612-1614)atC>atT	p.I538I	GALNT14_uc002rnq.3_Silent_p.I513I|GALNT14_uc010ymr.2_Silent_p.I498I|GALNT14_uc002rnr.3_Silent_p.I533I	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	533	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTTGACGACGATTTCCTTGC	0.557000														29			25		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1963158	1963158	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:1963158G>A	uc021qsx.1	-	22	2436	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Silent_p.P599P|CACNA2D4_uc009zdr.2_Non-coding_Transcript	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	735						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.P735P(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGCTTCCATGGGGGCTGTCA	0.612000														20			10		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855612	2855612	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:2855612C>T	uc022aqr.1	-	53	8688	c.8298G>A	c.(8296-8298)acG>acA	p.T2766T	CSMD1_uc011kwj.2_Silent_p.T2096T|CSMD1_uc010lrg.3_Silent_p.T777T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2767	Sushi 19.					integral to membrane		p.T2766T(1)|p.T2495T(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCAAATAGCCCGTGTTGCAGG	0.557000														33			25		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807596	143807596	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:143807596G>A	uc011ktz.2	+	0	921	c.921G>A	c.(919-921)aaG>aaA	p.K307K		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCCAGAGGAAGAGGTCCATGA	0.428000														203			36		0	0	1	0	0
RHBG	57127	broad.mit.edu	37	1	156347822	156347822	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:156347822C>T	uc010pho.2	+	2	454	c.416C>T	c.(415-417)tCc>tTc	p.S139F	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_Missense_Mutation_p.S70F|RHBG_uc009wrz.3_Missense_Mutation_p.S70F|RHBG_uc001for.3_Missense_Mutation_p.S109F	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	139					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					GTGCTCATCTCCTTTGGTGCC	0.602000														57			57		0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43052848	43052848	+	Silent	SNP	C	T	T	rs142268325		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:43052848C>T	uc002xma.3	+	7	1172	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	HNF4A_uc002xlt.3_Silent_p.F339F|HNF4A_uc002xlu.3_Silent_p.F339F|HNF4A_uc002xlv.3_Silent_p.F339F|HNF4A_uc002xly.3_Silent_p.F361F|HNF4A_uc010ggq.3_Silent_p.F354F|HNF4A_uc002xlz.3_Silent_p.F361F	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	361					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCAAGCTCTTCGGCATGGCCA	0.607000														18			11		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415094	105415094	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:105415094G>A	uc010axc.1	-	6	6814	c.6694C>T	c.(6694-6696)Ctc>Ttc	p.L2232F	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L2132F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2232						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCCTTTGAGGCCGACTTCC	0.617000														101			86		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55512301	55512301	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:55512301G>A	uc001cyf.2	+	2	867	c.505G>A	c.(505-507)Gat>Aat	p.D169N	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_Intron	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	169	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTACCGGGCGGATGAATACCA	0.622000														21			11		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100237264	100237264	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:100237264G>T	uc003hus.4	-	4	442	c.358C>A	c.(358-360)Cct>Act	p.P120T	ADH1B_uc003hut.4_Missense_Mutation_p.P80T|ADH1B_uc011ceh.2_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.P80T	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	120					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.P120H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTCCCCCGAGGATTGCCTAGA	0.542000														26			11		1.08611e-07	1.09392e-07	1	1	0
AKR7A3	22977	broad.mit.edu	37	1	19611602	19611603	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:19611602_19611603AC>TT	uc001bbv.1	-	3	590_591	c.513_514GT>AA	c.(511-516)atgtac>atAAac	p.171_172MY>IN		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	171					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGCATTGTACATGCCCTGTA	0.535000														27			24		0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410169	159410169	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:159410169C>T	uc010piv.2	+	0	658	c.621C>T	c.(619-621)atC>atT	p.I207I	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	207					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCAATGAAATCCTGACTTTGA	0.438000														129			56		0	0	1	0	0
ERAP1	51752	broad.mit.edu	37	5	96127814	96127814	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:96127814C>T	uc003kmm.3	-	7	1617	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K	ERAP1_uc003kml.3_Missense_Mutation_p.E424K|ERAP1_uc010jbm.2_Missense_Mutation_p.E236K|ERAP1_uc003kmn.3_Missense_Mutation_p.E424K	NM_001040458	NP_001185470	Q9NZ08	ERAP1_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA.	424					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		GCAGGATTTTCCACAGGTGTA	0.358000														53			28		0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3118921	3118921	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:3118921G>A	uc010vrc.2	+	0	7	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						AGCCATGAGGGAAAATAACCA	0.403000														30			10		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178408731	178408731	+	Missense_Mutation	SNP	C	T	T	rs145110689		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:178408731C>T	uc003mjr.3	-	9	2740	c.2561G>A	c.(2560-2562)cGa>cAa	p.R854Q	GRM6_uc003mjq.3_Missense_Mutation_p.R257Q	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	854					detection of visible light|visual perception	integral to plasma membrane		p.R854*(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GCTCCGCTTTCGCTTCTGCAC	0.612000														63			51		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27421956	27421956	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:27421956C>T	uc002hdt.1	-	28	4665	c.4507G>A	c.(4507-4509)Gag>Aag	p.E1503K	MYO18A_uc010wbc.1_Missense_Mutation_p.E1045K|MYO18A_uc002hds.2_Missense_Mutation_p.E1045K|MYO18A_uc010csa.1_Missense_Mutation_p.E1503K|MYO18A_uc002hdu.1_Missense_Mutation_p.E1503K|MYO18A_uc010wbd.1_Missense_Mutation_p.E1172K	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1503					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTACCCACCTCTAGTTGCTGC	0.617000														15			12		0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42742899	42742899	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:42742899G>A	uc001zpw.3	-	1	1829	c.1502C>T	c.(1501-1503)cCt>cTt	p.P501L	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.P284L|ZFP106_uc001zpy.1_Missense_Mutation_p.P524L	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	501						nucleolus	zinc ion binding	p.P501S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GGATATGTAAGGACCATGGTT	0.363000														90			68		0	0	1	0	0
SEC23B	10483	broad.mit.edu	37	20	18505092	18505092	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:18505092C>T	uc002wra.2	+	4	843	c.382C>T	c.(382-384)Cct>Tct	p.P128S	SEC23B_uc010zsb.2_Intron|SEC23B_uc002wrb.2_Missense_Mutation_p.P128S|SEC23B_uc002wqz.2_Missense_Mutation_p.P128S|SEC23B_uc002wrc.2_Missense_Mutation_p.P128S	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	128					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TGCTCAGTCCCCTCTGATCTT	0.428000														42			31		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28588421	28588421	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:28588421C>T	uc002kwj.4	-	9	1489	c.1334G>A	c.(1333-1335)aGa>aAa	p.R445K	DSC3_uc002kwi.4_Missense_Mutation_p.R445K	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	445	Cadherin 3.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGGAATATCTCTAGCAAATGG	0.438000														40			19		0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086282	56086282	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:56086282C>T	uc010rjf.2	+	0	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTTACTTTATCCTTCTGTGGC	0.373000														27			21		0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12502142	12502142	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:12502142C>T	uc010dyt.3	-	3	1274	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	ZNF799_uc002mts.4_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGTGTGAGTTCTTTCATGACT	0.413000														60			38		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263570	39263570	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:39263570G>A	uc001uwv.3	+	0	2398	c.2089G>A	c.(2089-2091)Gat>Aat	p.D697N		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	697					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCATCCTGTGGATCGCCTCCC	0.557000														39			33		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201868835	201868835	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:201868835C>G	uc021phl.1	-	1	1554	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	LMOD1_uc021phm.1_Missense_Mutation_p.E436Q|LMOD1_uc010ppu.2_Missense_Mutation_p.E385Q	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	436					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTGGCGATCTCCATCTCCGTC	0.592000														19			45		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56165323	56165323	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:56165323C>T	uc002lhj.4	-	11	6468	c.6254G>A	c.(6253-6255)gGa>gAa	p.G2085E		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2085	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TAGCTTCATTCCTACACCTAC	0.493000														43			35		0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688687	3688688	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:3688687_3688688GG>AA	uc001lyf.3	-	3	741_742	c.669_670CC>TT	c.(667-672)tacccc>taTTcc	p.P224S	CHRNA10_uc010qxt.2_Missense_Mutation_p.P18S|CHRNA10_uc010qxu.2_Missense_Mutation_p.P18S	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	224					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GTGACGTCGGGGTAGGGCTCGG	0.723000														20			11		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22952108	22952108	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:22952108C>T	uc021urt.1	-	1	177	c.22G>A	c.(22-24)Gat>Aat	p.D8N		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGGTCACATCCCAAAATGTC	0.393000														35			25		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48193070	48193070	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:48193070G>A	uc002iqf.3	-	6	979	c.680C>T	c.(679-681)tCc>tTc	p.S227F	SAMD14_uc002iqe.3_Missense_Mutation_p.S10F|SAMD14_uc002iqg.3_Missense_Mutation_p.S227F	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	227										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TGACCTGCCGGACCCCTCCAC	0.662000														76			61		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21802475	21802475	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:21802475G>A	uc010iuc.2	-	6	1515	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	CDH12_uc011cno.1_Missense_Mutation_p.L313F|CDH12_uc003jgk.2_Missense_Mutation_p.L353F	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	353	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCAAGGTGAAGGTTGGAAGCC	0.438000										HNSCC(59;0.17)				31			17		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12380020	12380020	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:12380020G>A	uc001mkg.1	+	8	2373	c.2082G>A	c.(2080-2082)agG>agA	p.R694R		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	694					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		AGCTGAGCAGGACTTGAGGAG	0.537000														75			78		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18062612	18062612	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:18062612C>T	uc021trm.1	+	52	9399	c.9180C>T	c.(9178-9180)atC>atT	p.I3060I	MYO15A_uc021trl.1_Silent_p.I3058I|MYO15A_uc010vxi.2_Silent_p.I324I|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Silent_p.I49I|MYO15A_uc002gsl.3_5'UTR|MYO15A_uc010vxm.2_5'Flank|MYO15A_uc002gsm.1_5'Flank|MYO15A_uc010cpv.3_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3060	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AATCCCTCATCGAACTCAGCG	0.592000														23			16		0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65732014	65732014	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:65732014C>T	uc001ogl.3	+	2	492	c.400C>T	c.(400-402)Ccc>Tcc	p.P134S	SART1_uc010rot.1_5'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	134					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGGGCTGAAACCCTTGGAGGT	0.498000														33			25		0	0	1	0	0
ATAD3A	55210	broad.mit.edu	37	1	1460671	1460671	+	Splice_Site	SNP	C	A	A	rs149995099	byFrequency	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:1460671C>A	uc001afz.2	+	12	1536	c.1410_splice	c.e12+1	p.T470_splice	ATAD3A_uc001aga.2_Splice_Site_p.T422_splice|ATAD3A_uc001agb.2_Splice_Site_p.T343_splice	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	Homo sapiens ATPase family, AAA domain containing 3A (ATAD3A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	470							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		AGCGAGCCACCGTGAGTGTCA	0.612000														63			42		8.72198e-27	8.86981e-27	1	1	0
SGCE	8910	broad.mit.edu	37	7	94230005	94230005	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:94230005G>A	uc011kid.1	-	7	1209	c.1098C>T	c.(1096-1098)gtC>gtT	p.V366V	SGCE_uc003unm.2_Silent_p.V330V|SGCE_uc003unl.2_Silent_p.V330V|SGCE_uc003unn.2_Silent_p.V330V|SGCE_uc011kic.1_Silent_p.V289V	NM_003919	NP_003910	O43556	SGCE_HUMAN	Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.	330					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.Q365*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTAGAAAAAGGACCAGTGCCA	0.418000														22			9		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40339314	40339314	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:40339314G>A	uc003gva.1	+	2	314	c.298G>A	c.(298-300)Gat>Aat	p.D100N		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	100					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	AGATCAGTACGATGGCCTAGA	0.483000														21			18		0	0	1	0	0
OR12D3	81797	broad.mit.edu	37	6	29342395	29342395	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:29342395G>A	uc003nme.3	-	0	674	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L		NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 3 (OR12D3), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TTCTTAAACAGAAGGAAGCCA	0.448000														60			22		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686621	54686621	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:54686621C>T	uc009znk.3	-	1	1169	c.659G>A	c.(658-660)gGg>gAg	p.G220E	NFE2_uc001sfq.3_Missense_Mutation_p.G220E|NFE2_uc001sfr.4_Missense_Mutation_p.G220E|NFE2_uc009znl.3_Missense_Mutation_p.G220E	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	220					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CCCTGCCTCCCCCCGTGCAGT	0.572000														24			15		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853681	122853681	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:122853681C>T	uc003ieg.2	-	1	806	c.732G>A	c.(730-732)caG>caA	p.Q244Q	TRPC3_uc010inr.2_Silent_p.Q171Q|TRPC3_uc003ief.2_Silent_p.Q171Q|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	159					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTCGTATTTCTGGCAGTGCG	0.612000														31			30		0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864826	22864826	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:22864826C>T	uc003xcp.2	+	6	1417	c.1134C>T	c.(1132-1134)ggC>ggT	p.G378G	RHOBTB2_uc011kzp.1_Silent_p.G363G|RHOBTB2_uc003xcq.2_Silent_p.G356G|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	356	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGGCTGGGGGCTCCGGTCCTG	0.637000														52			37		0	0	1	0	0
C5	727	broad.mit.edu	37	9	123742403	123742403	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:123742403G>A	uc004bkv.3	-	27	3646	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1206					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACAATTGAACGAAACTGTGGG	0.408000														33			22		0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97494860	97494860	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:97494860C>T	uc002swy.3	+	6	2072	c.2048C>T	c.(2047-2049)aCc>aTc	p.T683I	CNNM3_uc002swz.3_Missense_Mutation_p.T635I	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	Homo sapiens cyclin M3 (CNNM3), transcript variant 1, mRNA.	683					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GAGAAGACCACCACAGCGGCA	0.622000														20			16		0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471266	4471266	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:4471266C>T	uc001lyz.2	+	0	742	c.697C>T	c.(697-699)Cag>Tag	p.Q233*		NM_001005172	NP_001005172	Q8NGK3	O52K2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 2 (OR52K2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q233*(2)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGCCTCTCAGGAGGCCCG	0.478000														91			81		0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494584	111494584	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:111494584T>C	uc001eaa.3	-	1	1178	c.922A>G	c.(922-924)Aag>Gag	p.K308E	LRIF1_uc001dzz.3_Intron|LRIF1_uc001eab.3_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TTTGAAGACTTAACAGGAACA	0.358000														22			40		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56573474	56573474	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:56573474G>A	uc002iwj.2	-	15	2139	c.2029C>T	c.(2029-2031)Cct>Tct	p.P677S		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	677						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCAGAGGAGGAGGAAGACCC	0.517000														56			57		0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33923424	33923424	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:33923424G>A	uc003ztq.1	-	24	2962	c.2849C>T	c.(2848-2850)cCt>cTt	p.P950L	UBAP2_uc011loc.1_Missense_Mutation_p.P859L|UBAP2_uc011lod.1_Missense_Mutation_p.P683L|UBAP2_uc011loe.1_Missense_Mutation_p.P705L|UBAP2_uc011lof.1_Missense_Mutation_p.P875L|UBAP2_uc003ztn.1_Missense_Mutation_p.P189L|UBAP2_uc003zto.1_Missense_Mutation_p.P189L|UBAP2_uc003ztp.2_Missense_Mutation_p.P189L	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	950										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CTGGAAGGGAGGTGTGGGAGT	0.587000														195			123		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7636240	7636240	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:7636240G>A	uc001qsz.3	-	11	2939	c.2811C>T	c.(2809-2811)tcC>tcT	p.S937S	CD163_uc001qta.3_Silent_p.S937S|CD163_uc009zfw.2_Silent_p.S970S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	937	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTCCAGAACAGGAAGTGGGTC	0.468000														18			14		0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3392243	3392243	+	Silent	SNP	C	T	T	rs147425056		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:3392243C>T	uc002qxm.1	+	1	1055	c.849C>T	c.(847-849)atC>atT	p.I283I	TRAPPC12_uc002qxn.1_Silent_p.I283I|TRAPPC12_uc010ewm.1_Silent_p.I283I	NM_016030	NP_057114	Q8WVT3	TTC15_HUMAN	Homo sapiens trafficking protein particle complex 12 (TRAPPC12), mRNA.	283							binding										TCGCGCACATCCAGGCAGTGT	0.716000														10			18		0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55032387	55032387	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:55032387C>T	uc010rid.2	+	1	142	c.56C>T	c.(55-57)tCt>tTt	p.S19F		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	3						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACATGAATTCTGGAATCTCG	0.463000														119			118		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220423044	220423044	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:220423044C>T	uc010fwk.3	-	9	3678	c.3364G>A	c.(3364-3366)Gag>Aag	p.E1122K	OBSL1_uc002vmh.1_Missense_Mutation_p.E113K|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.2_Missense_Mutation_p.E1122K	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1122	Ig-like 9.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TCTGATGCCTCCACTTCCAGC	0.682000														17			6		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42328426	42328426	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr20:42328426C>T	uc002xlb.1	+	6	908	c.693C>T	c.(691-693)gtC>gtT	p.V231V	MYBL2_uc010zwj.1_Silent_p.V207V	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	231						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCCCTCCGTCCCTCCTACCA	0.493000														18			15		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716776	13716776	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:13716776G>A	uc001rbt.2	-	12	3575	c.3396C>T	c.(3394-3396)ttC>ttT	p.F1132F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1132					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTCCAGGTAGAAGTCCCGTA	0.592000														36			31		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3741981	3741981	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:3741981C>T	uc001lyh.3	-	16	2642	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R	NUP98_uc001lyi.3_Missense_Mutation_p.G741R|NUP98_uc001lyj.2_Missense_Mutation_p.G741R|NUP98_uc001lyk.2_Missense_Mutation_p.G758R	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	758	Peptidase S59.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATGCACTCTCCTTTTTCATTG	0.333000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									24			14		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112676911	112676911	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:112676911G>A	uc021reb.1	-	33	5229	c.4833C>T	c.(4831-4833)gcC>gcT	p.A1611A		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGGCAGCCCAGGCCATGGTGG	0.527000														28			25		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12984532	12984532	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:12984532C>T	uc002mvm.3	+	25	3689	c.3561C>T	c.(3559-3561)ctC>ctT	p.L1187L		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	1187					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGCCAAAGCTCCATCGCCAGT	0.697000														13			12		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106897900	106897900	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:106897900T>C	uc001tlp.3	+	26	3362	c.3140T>C	c.(3139-3141)cTc>cCc	p.L1047P	LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.L989P	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	1047					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GGCTTGCGTCTCGGGGAAATG	0.418000														48			28		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48378023	48378023	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:48378023G>C	uc002phr.2	-	4	776	c.636C>G	c.(634-636)aaC>aaG	p.N212K		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	212					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		TGAGAATTAAGTTCAGTTCTT	0.393000														5			47		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	757739	757739	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:757739C>T	uc002lpo.3	+	1	876	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	265										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGCTGTGCCCACCTGGGC	0.647000														25			18		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263251	34263251	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:34263251G>A	uc002nus.4	+	4	1063	c.558G>A	c.(556-558)gtG>gtA	p.V186V	CHST8_uc002nut.4_Silent_p.V186V|CHST8_uc002nuu.3_Silent_p.V186V	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	186					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GTATCTTCGTGGAGGACCGCC	0.701000														47			39		0	0	1	0	0
C8orf73	642475	broad.mit.edu	37	8	144650333	144650333	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:144650333C>T	uc010mff.3	-	10	1787	c.1743G>A	c.(1741-1743)ctG>ctA	p.L581L		NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	Homo sapiens chromosome 8 open reading frame 73 (C8orf73), mRNA.	581							binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGAGGTGGCTCAGGGCCTCGG	0.652000														10			6		0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213056	21213056	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:21213056G>A	uc010bwn.1	-	12	1647	c.1565C>T	c.(1564-1566)cCa>cTa	p.P522L	ZP2_uc002dii.2_Missense_Mutation_p.P492L	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	492	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CAAGGTAAATGGACCCAACTT	0.413000														57			47		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100832315	100832315	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:100832315C>T	uc003yiv.3	+	48	9145	c.9034C>T	c.(9034-9036)Cct>Tct	p.P3012S	VPS13B_uc003yiw.3_Missense_Mutation_p.P2987S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3012					protein transport			p.V3011D(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTACAGGTTCCTGCTGGCAA	0.348000														39			29		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196709832	196709832	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:196709832C>G	uc002utj.4	-	46	8940	c.8839G>C	c.(8839-8841)Gat>Cat	p.D2947H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2947					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGAGAGCAATCATCTGAGCAG	0.398000														22			8		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385231	41385231	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr21:41385231G>A	uc002yyq.1	-	32	6221	c.5769C>T	c.(5767-5769)agC>agT	p.S1923S	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.	1923				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	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)				CTTGTCCTAAGCTCAGGTCCC	0.567000														41			21		0	0	1	0	0
SELL	6402	broad.mit.edu	37	1	169677859	169677859	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:169677859G>A	uc010pls.2	-	0	139	c.30C>T	c.(28-30)tgC>tgT	p.C10C	C1orf112_uc001ggj.3_Intron|SELL_uc001ggk.3_Silent_p.C70C|SELL_uc001ggl.2_Silent_p.C70C	NM_000655	NP_000646	P14151	LYAM1_HUMAN	Homo sapiens selectin L (SELL), transcript variant 1, mRNA.	57					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	integral to plasma membrane	glycosphingolipid binding|heparin binding|protease binding|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AATTGTCTCGGCAGAATCTTC	0.433000														6			8		0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174200446	174200446	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:174200446C>T	uc001gjx.3	+	3	772	c.495C>T	c.(493-495)ccC>ccT	p.P165P	RABGAP1L_uc009wwq.2_Silent_p.P165P|RABGAP1L_uc001gjw.3_Silent_p.P128P	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	165	PID.				regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTCAATACCCCTTTCCTGTTA	0.408000														172			55		0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29977342	29977342	+	Missense_Mutation	SNP	A	T	T	rs116382006	by1000genomes	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:29977342A>T	uc021yty.1	+	4	388	c.370A>T	c.(370-372)Agg>Tgg	p.R124W	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Missense_Mutation_p.R121W					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		TGGGACTGAGAGGCAAGATTT	0.438000														66			4		0	0	1	0	0
RPLP0	6175	broad.mit.edu	37	12	120634627	120634627	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:120634627C>T	uc001txp.3	-	7	1140	c.903G>A	c.(901-903)aaG>aaA	p.K301K	GCN1L1_uc001txo.3_5'Flank|RPLP0_uc001txr.3_Silent_p.K239K|RPLP0_uc001txq.3_Silent_p.K301K	NM_053275	NP_444505	P05388	RLA0_HUMAN	Homo sapiens ribosomal protein, large, P0 (RPLP0), transcript variant 2, mRNA.	301					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	RNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGACTCTTCCTTGGCTTCAA	0.517000														23			24		0	0	1	0	0
UBAC2	337867	broad.mit.edu	37	13	99896856	99896856	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:99896856G>C	uc010tiu.2	+	3	768	c.433G>C	c.(433-435)Gct>Cct	p.A145P	UBAC2_uc001voa.4_Missense_Mutation_p.A123P|UBAC2_uc001vob.4_Intron|UBAC2_uc010tiv.2_Non-coding_Transcript|UBAC2_uc001vod.3_Missense_Mutation_p.A10P|UBAC2_uc001voc.3_Intron|UBAC2_uc010tiw.2_Non-coding_Transcript|MIR548AN_uc021rly.1_Intron	NM_177967	NP_808882	Q8NBM4	UBAC2_HUMAN	Homo sapiens UBA domain containing 2 (UBAC2), transcript variant 2, mRNA.	123						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CATCACTGCAGCTAGTAATTT	0.333000														16			8		0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34474670	34474670	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:34474670C>T	uc001mvm.3	+	4	603	c.514C>T	c.(514-516)Cct>Tct	p.P172S	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	172					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AAagagaaatcctcagacaca	0.383000														13			15		0	0	1	0	0
NCF1B	654816	broad.mit.edu	37	7	72639986	72639986	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:72639986G>A	uc011ker.1	+	3	300	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	FKBP6_uc003twz.2_Intron|NCF1B_uc022afs.1_Intron					Homo sapiens neutrophil cytosolic factor 1B pseudogene (NCF1B), non-coding RNA.																		CGAGTACTGCGGCACGCTCAT	0.622000														153			5		0	0	1	0	0
PPP3R2	5535	broad.mit.edu	37	9	104357199	104357199	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:104357199C>T	uc004bbr.3	-	0	85	c.14G>A	c.(13-15)gGa>gAa	p.G5E	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	2							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GGCCTCGTTTCCCATTGTGGA	0.587000														36			40		0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41900346	41900346	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:41900346C>T	uc003orl.3	+	6	1552	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W		NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	406					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AGAACTGCTCCGGCTGCAGCC	0.597000														109			57		0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16275656	16275656	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:16275656C>T	uc002nds.3	-	4	415	c.415G>A	c.(415-417)Ggg>Agg	p.G139R	CIB3_uc010eae.3_Missense_Mutation_p.G78R|CIB3_uc010eaf.3_Non-coding_Transcript|CIB3_uc010eag.3_Missense_Mutation_p.G90R	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	139			G -> E (in dbSNP:rs6512087).				calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GCACTCAGCCCCCCCCGCGTC	0.567000														51			24		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727100	181727100	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:181727100C>T	uc009wxt.3	+	30	4542	c.4347C>T	c.(4345-4347)ttC>ttT	p.F1449F	CACNA1E_uc001gow.3_Silent_p.F1449F|CACNA1E_uc009wxs.3_Silent_p.F1430F|CACNA1E_uc001gox.1_Silent_p.F675F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1449					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F1449F(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCATCGACTTCGCCATCAGCG	0.522000														52			77		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205031573	205031573	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:205031573G>A	uc001hbr.3	+	9	1385	c.1116G>A	c.(1114-1116)cgG>cgA	p.R372R	CNTN2_uc001hbq.1_Silent_p.R263R|CNTN2_uc001hbs.3_Silent_p.R160R	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	372	Ig-like C2-type 4.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACAGAACCGGGTGGAGGTGT	0.617000														89			27		0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68707496	68707496	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr12:68707496G>A	uc001stz.2	-	9	1673	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F	MDM1_uc009zqv.1_Missense_Mutation_p.L233F|MDM1_uc010stc.1_Missense_Mutation_p.L478F	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	513						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GGAGTAGGAAGCCGGCCTCCT	0.408000														31			29		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27099905	27099905	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:27099905C>T	uc001bmv.1	+	14	4157	c.3784C>T	c.(3784-3786)Cgt>Tgt	p.R1262C	ARID1A_uc001bmt.1_Missense_Mutation_p.R1261C|ARID1A_uc001bmu.1_Missense_Mutation_p.R1262C|ARID1A_uc001bmw.1_Missense_Mutation_p.R879C|ARID1A_uc001bmx.1_Missense_Mutation_p.R108C|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1262					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.R1262H(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCTACAGTCGTGCTGCCGG	0.592000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									31			28		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13901540	13901540	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:13901540C>T	uc003jfd.2	-	13	1915	c.1873G>A	c.(1873-1875)Gga>Aga	p.G625R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	625	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAATCTTTCCAGCGATGGGA	0.507000									Kartagener syndrome					14			5		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101844394	101844394	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr13:101844394G>A	uc001vox.1	-	13	1827	c.1638C>T	c.(1636-1638)tcC>tcT	p.S546S	NALCN_uc001voy.3_Silent_p.S261S|NALCN_uc001voz.2_Silent_p.S546S|NALCN_uc001vpa.2_Silent_p.S546S	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	546						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTGGAACATGGACATAAATG	0.428000														12			11		0	0	1	0	0
LY6D	8581	broad.mit.edu	37	8	143866648	143866648	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:143866648G>A	uc003yxf.1	-	2	452	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S		NM_003695	NP_003686	Q14210	LY6D_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus D (LY6D), mRNA.	126					cell adhesion	anchored to membrane|membrane fraction|plasma membrane	protein binding			large_intestine(1)|lung(3)|prostate(1)	5	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CACAGGCTGGGGGCTAAGATG	0.662000														19			5		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90450000	90450000	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:90450000G>A	uc003pnn.1	-	31	4662	c.4546C>T	c.(4546-4548)Cgt>Tgt	p.R1516C		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1516					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.R1516C(2)		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)		GCTAGAATACGAAATTTTTTC	0.408000														7			21		0	0	1	0	0
OR6F1	343169	broad.mit.edu	37	1	247875174	247875174	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:247875174T>C	uc001idj.1	-	0	884	c.884A>G	c.(883-885)aAg>aGg	p.K295R		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TCTTACTTCCTTATTACGAAG	0.428000														107			40		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155099294	155099294	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:155099294T>G	uc002tyt.4	+	3	666	c.562T>G	c.(562-564)Tta>Gta	p.L188V	GALNT13_uc002tyr.4_Missense_Mutation_p.L188V|GALNT13_uc010foc.1_Missense_Mutation_p.L7V	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	188	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACGCTCTGGGTTAATACGTGC	0.408000														20			15		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50870760	50870760	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:50870760G>A	uc001jhz.2	+	13	2062	c.1909G>A	c.(1909-1911)Gag>Aag	p.E637K	CHAT_uc001jhv.1_Missense_Mutation_p.E519K|CHAT_uc001jhx.1_Missense_Mutation_p.E519K|CHAT_uc001jhy.1_Missense_Mutation_p.E519K|CHAT_uc001jia.2_Missense_Mutation_p.E555K|CHAT_uc010qgs.1_Missense_Mutation_p.E519K	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	637					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.K636K(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CATGTGCAAGGAGCTGCCCGA	0.577000														7			55		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396604	38396604	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:38396604G>A	uc022bgy.1	+	0	859	c.859G>A	c.(859-861)Ggt>Agt	p.G287S	ALDH1B1_uc004aay.3_Missense_Mutation_p.G287S	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	287					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CCTGGAGCTGGGTGGTAAGAG	0.592000														34			26		0	0	1	0	0
PIM3	415116	broad.mit.edu	37	22	50354965	50354965	+	Splice_Site	SNP	G	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:50354965G>T	uc003bjb.3	+	3	649	c.196_splice	c.e3-1	p.V66_splice	PIM3_uc011arj.2_5'Flank	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	Homo sapiens pim-3 oncogene (PIM3), mRNA.	66	Protein kinase.				cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCTCCGCAGGTGGCTGTGA	0.771000														20			7		0.361761	0.361761	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104449125	104449125	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr9:104449125G>A	uc004bbp.2	-	1	1658	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	GRIN3A_uc004bbq.1_Missense_Mutation_p.R353C	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	353					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGCACCCAACGAAGTTCAGGG	0.512000														20			13		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3133098	3133098	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:3133098C>T	uc021xkv.1	+	14	2217	c.2072C>T	c.(2071-2073)tCg>tTg	p.S691L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	691					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.S691S(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTATCTGCTTCGTTTTTGCTA	0.458000														27			19		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70450888	70450888	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr10:70450888C>T	uc001jok.4	+	11	6233	c.5728C>T	c.(5728-5730)Ctc>Ttc	p.L1910F		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1910					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTGGCTCCTCTCCCCACCCT	0.587000														6			31		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152207	72152207	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:72152207C>T	uc001xms.3	+	9	3594	c.3233C>T	c.(3232-3234)tCa>tTa	p.S1078L	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1078L|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1078L|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1078L|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S553L	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1078					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGGCCTCATTCACCTCAAGTC	0.507000														22			17		0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	14110524	14110524	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:14110524C>T	uc002gof.4	+	6	1530	c.1326C>T	c.(1324-1326)ccC>ccT	p.P442P	COX10_uc010vvs.2_Silent_p.P225P|COX10_uc010vvt.2_Silent_p.P250P	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	442					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GGCCCCCTCCCAGCTGAGAGC	0.632000														15			10		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18378061	18378061	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:18378061G>A	uc002zng.4	-	9	1791	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	MICAL3_uc011agl.2_Missense_Mutation_p.R480W|MICAL3_uc002znh.2_Missense_Mutation_p.R480W|MICAL3_uc002znj.1_Missense_Mutation_p.R180W|MICAL3_uc002znk.1_Missense_Mutation_p.R480W|MICAL3_uc002znl.1_Missense_Mutation_p.R113W|MICAL3_uc002znm.3_5'Flank|MICAL3_uc010grf.3_Missense_Mutation_p.R480W	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	480						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TGGCTTGGCCGGAGGAAGTTG	0.483000														15			8		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47398540	47398540	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr18:47398540C>T	uc002leb.2	-	26	3888	c.3600G>A	c.(3598-3600)ctG>ctA	p.L1200L	MYO5B_uc002lea.2_Silent_p.L341L|Y_RNA_uc021uka.1_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1200					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATCTTACCTTCAGACTATTGT	0.527000														256			200		0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44056203	44056203	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:44056203G>A	uc002owt.2	-	8	1168	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	XRCC1_uc010xwp.1_Missense_Mutation_p.R319W	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	350	BRCT 1.		R -> W (in a colorectal cancer sample; somatic mutation).		base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	p.R350W(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CAGTCTGGCCGATACTTGGCC	0.642000								Other BER factors						68			41		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169495230	169495230	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:169495230C>T	uc001ggg.1	-	17	5770	c.5625G>A	c.(5623-5625)aaG>aaA	p.K1875K		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1875	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GTTTTGATGCCTTCATTTCAA	0.363000														98			31		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526136	176526136	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:176526136C>T	uc001gkz.3	+	1	1842	c.678C>T	c.(676-678)tcC>tcT	p.S226S	PAPPA2_uc001gky.1_Silent_p.S226S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	226					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCAAGCATTCCCTTAAACACA	0.547000														39			74		0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35231795	35231795	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr19:35231795T>G	uc002nvu.3	+	3	972	c.509T>G	c.(508-510)cTt>cGt	p.L170R	ZNF181_uc010xsb.1_Missense_Mutation_p.L169R|ZNF181_uc010xsc.1_Missense_Mutation_p.L105R	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E170Q(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGTCTACTCTTTCTGAACCA	0.333000														37			20		0	0	1	0	0
POP7	10248	broad.mit.edu	37	7	100304533	100304533	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:100304533C>T	uc003uwh.4	+	1	342	c.80C>T	c.(79-81)cCc>cTc	p.P27L	POP7_uc022ais.1_Missense_Mutation_p.P27L	NM_005837	NP_005828	O75817	POP7_HUMAN	Homo sapiens processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae) (POP7), mRNA.	27					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			endometrium(2)|kidney(1)|ovary(1)	4	Lung NSC(181;0.041)|all_lung(186;0.0581)					AAAAGGCTTCCCAGCCGCCTG	0.607000														147			50		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41533698	41533698	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr22:41533698C>T	uc003azl.4	+	7	2059	c.1664C>T	c.(1663-1665)cCt>cTt	p.P555L		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	555					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCCTGGGTCCTATGCCAACA	0.438000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					32			30		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631427	77631427	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:77631427C>T	uc011cbx.2	+	2	1395	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	SHROOM3_uc011cbz.1_5'UTR	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	148					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTTAAACTTCGGCTGAAGCA	0.577000														21			19		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127623010	127623010	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:127623010C>G	uc003kuu.3	-	53	7309	c.6870G>C	c.(6868-6870)aaG>aaC	p.K2290N		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2290	EGF-like 38; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTTGCACATCTTTTGATCTT	0.453000														59			38		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93836183	93836183	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:93836183G>A	uc001pep.2	+	14	2836	c.2679G>A	c.(2677-2679)gtG>gtA	p.V893V	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	893	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAAACTTTGTGAAGGTAAGGT	0.373000														19			15		0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137528294	137528294	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:137528294C>T	uc003lcl.3	-	9	1096	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	355					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCAGGGCTCTCTGGAAATATA	0.373000														38			26		0	0	1	0	0
TGFB3	7043	broad.mit.edu	37	14	76446913	76446913	+	Silent	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:76446913G>A	uc001xsc.2	-	0	1180	c.324C>T	c.(322-324)ttC>ttT	p.F108F	TGFB3_uc001xsd.3_Silent_p.F106F	NM_003239	NP_003230	P10600	TGFB3_HUMAN	Homo sapiens transforming growth factor, beta 3 (TGFB3), mRNA.	108					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of DNA replication|negative regulation of cell proliferation|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		GGATCATGTCGAATTTATGGA	0.577000														66			50		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241722490	241722490	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:241722490C>T	uc010fzk.3	-	8	1082	c.835G>A	c.(835-837)Ggc>Agc	p.G279S	KIF1A_uc002vzy.3_Missense_Mutation_p.G279S|KIF1A_uc002vzz.2_Missense_Mutation_p.G279S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	279	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATGACCTTGCCCAGGGTGGTC	0.652000														47			36		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058231	114058231	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:114058231G>A	uc003ebi.3	-	4	2027	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	ZBTB20_uc003ebj.3_Missense_Mutation_p.S543F|ZBTB20_uc010hqp.3_Missense_Mutation_p.S543F|ZBTB20_uc003ebk.3_Missense_Mutation_p.S543F|ZBTB20_uc003ebl.3_Missense_Mutation_p.S543F|ZBTB20_uc003ebm.3_Missense_Mutation_p.S543F|ZBTB20_uc003ebn.3_Missense_Mutation_p.S543F	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ATCCTTTAAGGAGAAGGAGCG	0.512000														6			34		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49568863	49568863	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr3:49568863C>T	uc021wxz.1	+	2	1388	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	DAG1_uc021wya.1_Missense_Mutation_p.P307S|DAG1_uc021wyb.1_Missense_Mutation_p.P307S|DAG1_uc021wyc.1_Missense_Mutation_p.P307S|DAG1_uc021wyd.1_Missense_Mutation_p.P307S|DAG1_uc021wye.1_Missense_Mutation_p.P307S|DAG1_uc021wyf.1_Missense_Mutation_p.P307S|DAG1_uc021wyg.1_Missense_Mutation_p.P307S|DAG1_uc021wyh.1_Missense_Mutation_p.P307S|DAG1_uc021wyi.1_Missense_Mutation_p.P307S|DAG1_uc021wyj.1_Missense_Mutation_p.P307S|DAG1_uc021wyk.1_Missense_Mutation_p.P307S|DAG1_uc003cxc.4_Missense_Mutation_p.P307S	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	307	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GCCCCCTCTTCCCAAACGCGT	0.617000														51			35		0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58235475	58235475	+	Silent	SNP	T	C	C			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:58235475T>C	uc002iym.4	+	5	661	c.567T>C	c.(565-567)aaT>aaC	p.N189N	CA4_uc010wou.2_Non-coding_Transcript	NM_000717	NP_000708	P22748	CAH4_HUMAN	Homo sapiens carbonic anhydrase IV (CA4), mRNA.	189					bicarbonate transport|one-carbon metabolic process	ER-Golgi intermediate compartment|anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CACTGTCTAATATCCCCAAAC	0.617000														33			34		0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67233170	67233170	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:67233170A>G	uc002esa.3	+	0	143	c.100A>G	c.(100-102)Acc>Gcc	p.T34A	ELMO3_uc002esb.3_Missense_Mutation_p.T34A|ELMO3_uc002esc.3_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	0					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GGCCAGGTGCACCCTTGGCCG	0.677000														10			16		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36212230	36212230	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr4:36212230C>T	uc003gsq.2	-	5	1607	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	ARAP2_uc003gsr.1_Silent_p.Q423Q	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	423					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.Q423*(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTAAACTCTGAAAGCATT	0.358000														40			39		0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45672382	45672382	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:45672382A>T	uc021qgn.1	-	0	92	c.92T>A	c.(91-93)tTt>tAt	p.F31Y	CHST1_uc001mys.2_Missense_Mutation_p.F31Y	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	31					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCAGGTGTGAAAGGACTTGGC	0.652000														66			30		0	0	1	0	0
RBM12B	389677	broad.mit.edu	37	8	94747588	94747588	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:94747588G>A	uc022aye.1	-	0	1051	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	RBM12B_uc003yfz.3_Missense_Mutation_p.R351C	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	351	RRM 2.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGAACTGGACGATATTGTAAA	0.358000														28			21		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39604026	39604026	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr8:39604026C>T	uc003xnj.3	-	18	2214	c.2139G>A	c.(2137-2139)agG>agA	p.R713R	ADAM2_uc003xnk.3_Silent_p.R694R|ADAM2_uc011lck.2_Silent_p.R650R|ADAM2_uc003xnl.3_Silent_p.R557R	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	713					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCCATTTTTTCCTTTGGAAAT	0.284000														23			17		0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20960316	20960316	+	Missense_Mutation	SNP	G	A	A	rs45540544		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr1:20960316G>A	uc001bdm.3	+	0	369	c.275G>A	c.(274-276)tGc>tAc	p.C92Y		NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN	Homo sapiens PTEN induced putative kinase 1 (PINK1), nuclear gene encoding mitochondrial protein, mRNA.	92			C -> F (in PARK6).		cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCCTGGGGCTGCGCGGGCCCT	0.726000														3			9		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77407528	77407528	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr15:77407528G>A	uc021sqy.1	-	7	4787	c.4211C>T	c.(4210-4212)cCc>cTc	p.P1404L		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1404	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ATCCTCCCAGGGAAGCAGACG	0.498000														37			21		0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29977327	29977327	+	Silent	SNP	T	C	C	rs143365191	by1000genomes	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:29977327T>C	uc021yty.1	+	4	373	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	HLA-G_uc011dmb.2_3'UTR|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript|HLA-J_uc003rtl.4_Silent_p.L116L					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		GACAGCTGCCTTGTGTGGGAC	0.438000														70			4		0	0	1	0	0
WDR55	54853	broad.mit.edu	37	5	140049145	140049145	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:140049145G>A	uc003lgr.4	+	6	1172	c.1058G>A	c.(1057-1059)tGg>tAg	p.W353*	WDR55_uc011czl.1_3'UTR	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	Homo sapiens WD repeat domain 55 (WDR55), mRNA.	353					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAGACTTGGAGCACCGAT	0.552000														8			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249494	140249494	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr5:140249494G>A	uc003lia.2	+	0	1664	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R269Q	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	284	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACAGACCGAGACGAAGGA	0.388000														7			11		0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154237647	154237647	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:154237647G>A	uc003wlk.3	+	3	617	c.488G>A	c.(487-489)gGa>gAa	p.G163E	DPP6_uc003wli.3_Missense_Mutation_p.G99E|DPP6_uc003wlj.3_Missense_Mutation_p.G163E|DPP6_uc003wlm.3_Missense_Mutation_p.G101E|DPP6_uc011kvq.2_Missense_Mutation_p.G101E	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	163					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAACAGAAAGGAACAGTGAGA	0.353000														35			6		0	0	1	0	0
TCRBV15S1	0	broad.mit.edu	37	7	142364669	142364669	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:142364669C>T	uc003vzx.3	+	1	338	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Non-coding_Transcript|TRBV23-1_uc022ans.1_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GTCTGCCATCCCCAACCAGAC	0.478000														51			118		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79181271	79181271	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr14:79181271C>T	uc001xun.3	+	4	1205	c.714C>T	c.(712-714)atC>atT	p.I238I	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.I372I	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGGCTGCATCCGCGACCTAT	0.577000														27			22		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31855876	31855876	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:31855876G>A	uc003nxz.1	-	12	1697	c.1687C>T	c.(1687-1689)Cct>Tct	p.P563S	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.P354S|EHMT2_uc011don.1_Missense_Mutation_p.P586S|EHMT2_uc003nya.1_Missense_Mutation_p.P529S	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	563					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGGGGTGCAGGAGCTGCAGTG	0.652000														18			6		0	0	1	0	0
AOC4	90586	broad.mit.edu	37	17	41019620	41019620	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:41019620C>T	uc002ibw.1	+	0	459	c.325C>T	c.(325-327)Ctg>Ttg	p.L109L	AF047486_uc002ibx.3_5'Flank					Homo sapiens AOC3 pseudogene (AOC4), non-coding RNA.																		GGCTGCAGCCCTGGCTCACTT	0.667000														38			28		0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11964207	11964207	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr11:11964207C>T	uc001mjs.3	+	19	3402	c.2639C>T	c.(2638-2640)aCt>aTt	p.T880I	USP47_uc001mjq.1_Missense_Mutation_p.T900I|USP47_uc001mjr.3_Missense_Mutation_p.T812I|USP47_uc001mjt.1_Missense_Mutation_p.T186I	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	900					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex|cytoplasm	WD40-repeat domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AGCAAAAGTACTGAGACAAGT	0.418000														35			14		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1536420	1536420	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:1536420C>T	uc010uvf.2	-	2	942	c.942G>A	c.(940-942)gaG>gaA	p.E314E		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	319	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGTCATTGTCCTCGGTGGCGT	0.672000														40			34		0	0	1	0	0
NR1D1	9572	broad.mit.edu	37	17	38251709	38251709	+	Silent	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:38251709C>T	uc002htz.2	-	4	1862	c.1236G>A	c.(1234-1236)aaG>aaA	p.K412K	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	412					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCAGAACATTCTTTGAGTTGC	0.612000														51			32		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29451825	29451825	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr2:29451825C>T	uc002rmy.3	-	15	3692	c.2740G>A	c.(2740-2742)Ggg>Agg	p.G914R		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	914	Gly-rich.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTCTCCCACCCCCACTTCTTC	0.577000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					11			24		0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	Missense_Mutation	SNP	C	T	T	rs141013110		TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr6:26422353C>T	uc011dkl.1	+	0	37	c.7C>T	c.(7-9)Cca>Tca	p.P3S	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.									p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000														168			6		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19547953	19547953	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr16:19547953C>T	uc002dgl.4	+	3	1209	c.962C>T	c.(961-963)tCg>tTg	p.S321L	CCP110_uc002dgk.4_Missense_Mutation_p.S321L	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	321					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						GCTAGCTTTTCGAAAGTGGAC	0.383000														24			26		0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21825562	21825562	+	RNA	SNP	G	A	A			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:21825562G>A	uc002gyz.3	+	0		c.193G>A								Homo sapiens family with sequence similarity 27-like (FAM27L), non-coding RNA.											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		aggcctgcccggagggtgttc	0.632000														43			40		0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	-	-	rs147779783	byFrequency	TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr7:76112249delA	uc011kgk.1	+	2	772	c.420delA	c.(418-420)ccafs	p.P140fs	DTX2_uc003uff.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufg.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufh.4_Frame_Shift_Del_p.P231fs|DTX2_uc003ufj.4_Frame_Shift_Del_p.P231fs	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	231	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657													---	1171	---	---	9	---					
MFAP4	4239	broad.mit.edu	37	17	19290123	19290125	+	In_Frame_Del	DEL	AGC	-	-			TCGA-EB-A5SE-01A-11D-A30X-08	TCGA-EB-A5SE-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55f628bc-f199-4eb0-9388-9945bf2deabd	5ee0cf3a-5e46-4644-af01-64abd1c26929	g.chr17:19290123_19290125delAGC	uc002gvs.3	-	1	206_208	c.105_107delGCT	c.(103-108)ctgctt>ctt	p.35_36LL>L	MFAP4_uc002gvt.3_In_Frame_Del_p.11_12LL>L	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	11	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGTGGAGAGAAGCAGCAGCAGCG	0.655													---	4	---	---	2	---					
