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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ADAMTS14	140766	broad.mit.edu	37	10	72503418	72503418	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:72503418G>T	ENST00000373208.1	+	13	2048	c.2048G>T	c.(2047-2049)tGt>tTt	p.C683F	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.C680F	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	680	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TACAGCGTCTGTGCGCGTGGC	0.652000													6	22					0.217242	0.222567	1	1	0
DEF6	50619	broad.mit.edu	37	6	35289067	35289067	+	Silent	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:35289067C>A	ENST00000316637.5	+	11	1781	c.1776C>A	c.(1774-1776)ggC>ggA	p.G592G	DEF6_ENST00000542066.1_Silent_p.G337G	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	592						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GATCCCAGGGCAACAGGACCC	0.637000													20	116					1.56452e-12	2.91951e-12	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238271923	238271923	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:238271923G>T	ENST00000295550.4	-	14	6488	c.6036C>A	c.(6034-6036)gaC>gaA	p.D2012E	COL6A3_ENST00000347401.3_Missense_Mutation_p.D1811E|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1806E|COL6A3_ENST00000346358.4_Missense_Mutation_p.D1812E|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1806E|COL6A3_ENST00000472056.1_Missense_Mutation_p.D1405E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2012	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATAATCCAAGTCCAGCAAGT	0.463000													6	129					3.59834e-05	4.67113e-05	1	1	0
PREX1	57580	broad.mit.edu	37	20	47244086	47244086	+	Splice_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:47244086C>A	ENST00000371941.3	-	39	4959	c.4937_splice	c.e39+1	p.R1646_splice	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1646					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGCCACTCACCGCGGAGCACC	0.627000													10	55					4.68919e-08	7.65657e-08	1	1	0
FCRL3	115352	broad.mit.edu	37	1	157668362	157668362	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:157668362C>T	ENST00000368184.3	-	4	401	c.110G>A	c.(109-111)gGa>gAa	p.G37E	FCRL3_ENST00000368186.5_Missense_Mutation_p.G37E	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.G37E(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CACTTTTTCTCCTTTGAAGGC	0.458000													12	41					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651702	1651702	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:1651702C>A	ENST00000399676.2	+	1	670	c.632C>A	c.(631-633)tCc>tAc	p.S211Y		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	211	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTGGATCATCCTGCTGCCAA	0.582000													9	167					7.48243e-07	1.11702e-06	1	1	0
RYR2	6262	broad.mit.edu	37	1	237608790	237608790	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:237608790G>T	ENST00000366574.2	+	14	1577	c.1260G>T	c.(1258-1260)cgG>cgT	p.R420R	RYR2_ENST00000360064.6_Silent_p.R418R|RYR2_ENST00000542537.1_Silent_p.R404R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	420			R -> W (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTTATCCGGAGCACAGTCT	0.383000													16	52					1.3612e-06	2.01054e-06	1	1	0
SLC26A3	1811	broad.mit.edu	37	7	107423787	107423787	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:107423787G>C	ENST00000340010.5	-	9	1166	c.982C>G	c.(982-984)Cct>Gct	p.P328A	SLC26A3_ENST00000422236.2_Missense_Mutation_p.P293A	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	328					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GGTGTAATAGGGGGCTGAAAT	0.408000													8	56					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24593432	24593432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:24593432C>A	ENST00000264463.4	-	2	675	c.168G>T	c.(166-168)tgG>tgT	p.W56C	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	56	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATTCCACATCCAACCACGTT	0.383000										HNSCC(23;0.051)			22	133					1.50039e-11	2.7268e-11	1	1	0
ITK	3702	broad.mit.edu	37	5	156671297	156671297	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:156671297C>A	ENST00000422843.3	+	13	1410	c.1258C>A	c.(1258-1260)Cag>Aag	p.Q420K	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	420	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAACTGGTGCAGCTGTATGG	0.522000			T	SYK	peripheral T-cell lymphoma								9	47					0.00448238	0.00499636	1	1	0
MPDZ	8777	broad.mit.edu	37	9	13158032	13158032	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr9:13158032C>A	ENST00000319217.7	-	24	3684	c.3437G>T	c.(3436-3438)tGg>tTg	p.W1146L	MPDZ_ENST00000546205.1_Missense_Mutation_p.W1160L|MPDZ_ENST00000381015.4_Missense_Mutation_p.W1146L|MPDZ_ENST00000381022.2_Missense_Mutation_p.W1146L|MPDZ_ENST00000541718.1_Missense_Mutation_p.W1146L|MPDZ_ENST00000538841.1_Missense_Mutation_p.W38L|MPDZ_ENST00000447879.1_Missense_Mutation_p.W1146L|MPDZ_ENST00000536827.1_Missense_Mutation_p.W1146L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1146					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGGCTGATTCCAATTGCTATA	0.413000													5	17					1.23904e-05	1.68703e-05	1	1	0
RALGAPB	57148	broad.mit.edu	37	20	37179747	37179747	+	Missense_Mutation	SNP	A	A	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:37179747A>C	ENST00000262879.6	+	21	3327	c.3043A>C	c.(3043-3045)Aat>Cat	p.N1015H	RALGAPB_ENST00000397038.1_Missense_Mutation_p.N793H|RALGAPB_ENST00000397042.3_Missense_Mutation_p.N1011H|RALGAPB_ENST00000397040.1_Missense_Mutation_p.N1015H			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1015					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTTCCTAAAAATGACGTTGG	0.378000													17	185					0	0	1	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75898442	75898442	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:75898442A>T	ENST00000262207.4	+	2	688	c.220A>T	c.(220-222)Agt>Tgt	p.S74C	CRISPLD1_ENST00000519798.1_Intron	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	74						extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TAAATTACGAAGTCAGGTGTA	0.403000													33	81					0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166135280	166135280	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:166135280C>A	ENST00000338353.3	-	2	795	c.206G>T	c.(205-207)gGc>gTc	p.G69V	FAM78B_ENST00000354422.3_Missense_Mutation_p.G69V			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	69										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CTGAATCCAGCCCACCACCCA	0.657000													3	21					0.004672	0.00516639	1	1	0
GABRR3	200959	broad.mit.edu	37	3	97731363	97731363	+	RNA	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr3:97731363G>T	ENST00000472788.1	-	0	356					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GGAAAGGAGAGCCTCTCGTCT	0.393000													6	44					0.217242	0.222567	1	1	0
WDR65	149465	broad.mit.edu	37	1	43664270	43664270	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:43664270G>C	ENST00000372492.4	+	8	1705	c.1381G>C	c.(1381-1383)Gat>Cat	p.D461H	WDR65_ENST00000528956.1_Missense_Mutation_p.D461H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	461										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCTACTCATTGATGATATACG	0.408000													11	53					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14620577	14620577	+	Splice_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:14620577C>A	ENST00000403951.2	-	19	1942		c.e19-1		DGKB_ENST00000403963.1_Splice_Site|DGKB_ENST00000407950.1_Splice_Site|DGKB_ENST00000406247.3_Splice_Site|DGKB_ENST00000399322.3_Splice_Site|DGKB_ENST00000258767.5_Splice_Site|DGKB_ENST00000444700.2_Splice_Site|DGKB_ENST00000402815.1_Splice_Site			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa						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			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)	TTGGCCTTTTCTGCAGAATAA	0.393000													12	29					2.31682e-05	3.07439e-05	1	1	0
SEC24A	10802	broad.mit.edu	37	5	134010795	134010795	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:134010795G>T	ENST00000398844.2	+	6	1327	c.1039G>T	c.(1039-1041)Ggt>Tgt	p.G347C	SEC24A_ENST00000322887.4_Missense_Mutation_p.G347C	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	347					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACAACCAGAGGGTCTAAGAGT	0.368000													11	47					3.86212e-05	4.96728e-05	1	1	0
LTBP1	4052	broad.mit.edu	37	2	33477873	33477873	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:33477873G>T	ENST00000404816.2	+	11	2482	c.2129G>T	c.(2128-2130)tGg>tTg	p.W710L	LTBP1_ENST00000402934.1_Missense_Mutation_p.W384L|LTBP1_ENST00000354476.3_Missense_Mutation_p.W710L|LTBP1_ENST00000407925.1_Missense_Mutation_p.W384L|LTBP1_ENST00000418533.2_Missense_Mutation_p.W384L|LTBP1_ENST00000404525.1_Missense_Mutation_p.W384L|LTBP1_ENST00000390003.4_Missense_Mutation_p.W384L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	710	TB 2.			Missing (in Ref. 1; AAA61160 and 2; AAM03124).	negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGCAAGGCCTGGGGCCCACAC	0.552000													16	101					2.48551e-13	4.70109e-13	1	1	0
TENM1	10178	broad.mit.edu	37	X	123518485	123518485	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:123518485G>T	ENST00000422452.2	-	30	6359	c.6296C>A	c.(6295-6297)aCt>aAt	p.T2099N	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.T2092N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CACTGTAGTAGTTATGACCTG	0.373000													14	99					0.00185496	0.00212431	1	1	0
C10orf137	26098	broad.mit.edu	37	10	127426967	127426967	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:127426967G>T	ENST00000337623.3	+	14	1937	c.1832G>T	c.(1831-1833)gGg>gTg	p.G611V	C10orf137_ENST00000356792.4_Missense_Mutation_p.G645V	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCCTCAAGAGGGGGTCCCGAG	0.433000													6	57					3.59834e-05	4.67113e-05	1	1	0
MAPK6	5597	broad.mit.edu	37	15	52342238	52342238	+	Missense_Mutation	SNP	C	C	G	rs149172685		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:52342238C>G	ENST00000261845.5	+	3	1411	c.604C>G	c.(604-606)Ctt>Gtt	p.L202V		NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	202	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		ATCTCCACGTCTTTTACTTTC	0.363000													5	67					0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101192912	101192912	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:101192912G>T	ENST00000264254.6	+	6	1052	c.674G>T	c.(673-675)cGg>cTg	p.R225L		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	225					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TCCTCAGTGCGGCGCTCTGTC	0.478000													8	77					5.18039e-06	7.26646e-06	1	1	0
OR8K3	219473	broad.mit.edu	37	11	56085828	56085828	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:56085828G>T	ENST00000312711.1	+	1	46	c.46G>T	c.(46-48)Gga>Tga	p.G16*		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	16					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)					CATTCTTACGGGAATCACAGA	0.418000													6	121					0.000157383	0.000196965	1	1	0
OR6B1	135946	broad.mit.edu	37	7	143701966	143701966	+	Silent	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:143701966C>A	ENST00000408922.2	+	1	945	c.877C>A	c.(877-879)Cga>Aga	p.R293R		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CCTAAGAAACCGAGAGGTCAA	0.433000													22	51					0.000175454	0.000218925	1	1	0
NME8	51314	broad.mit.edu	37	7	37916496	37916496	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:37916496C>A	ENST00000199447.4	+	12	1253	c.881C>A	c.(880-882)gCt>gAt	p.A294D	EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.A294D	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	294					cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GAGGATGCAGCTAATGTTGCT	0.313000													5	37					0.014758	0.0158991	1	1	0
PDZRN4	29951	broad.mit.edu	37	12	41967268	41967268	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:41967268A>G	ENST00000298919.7	+	10	2295	c.1907A>G	c.(1906-1908)gAc>gGc	p.D636G	PDZRN4_ENST00000402685.2_Missense_Mutation_p.D896G|PDZRN4_ENST00000539469.2_Missense_Mutation_p.D638G			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	896							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATTAGGAGCGACGGGACACGG	0.517000													6	104					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806262	54806262	+	Silent	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:54806262G>A	ENST00000306858.7	+	5	2609	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	831										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTAGAAGAAAGCATTCTTCCT	0.378000													9	37					0	0	1	0	0
RHBDD1	84236	broad.mit.edu	37	2	227731981	227731981	+	Silent	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:227731981G>A	ENST00000392062.2	+	5	1037	c.513G>A	c.(511-513)ccG>ccA	p.P171P	RHBDD1_ENST00000341329.3_Silent_p.P171P	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	171						integral to membrane	serine-type endopeptidase activity	p.P171P(3)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTCCTGTACCGAACAGATTTG	0.398000													8	158					0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045619	35045619	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr9:35045619G>A	ENST00000312292.5	+	2	3040	c.2993G>A	c.(2992-2994)aGc>aAc	p.S998N	C9orf131_ENST00000421362.2_Missense_Mutation_p.S950N|C9orf131_ENST00000354479.5_Missense_Mutation_p.S925N	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	998										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGGGCCAGAGCTCTCAACAC	0.582000													24	84					0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86172125	86172125	+	Splice_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:86172125C>A	ENST00000431532.2	-	3	753	c.605_splice	c.e3+1	p.S202_splice	ZNHIT6_ENST00000370574.3_Splice_Site_p.S241_splice	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	241	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACATGTATACCTGCAGGAATA	0.373000													7	86					8.12818e-05	0.000102646	1	1	0
GPR64	10149	broad.mit.edu	37	X	19009093	19009093	+	Silent	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:19009093A>T	ENST00000354791.3	-	28	3136	c.2895T>A	c.(2893-2895)acT>acA	p.T965T	GPR64_ENST00000357544.3_Silent_p.T951T|GPR64_ENST00000360279.4_Silent_p.T959T|GPR64_ENST00000357991.3_Silent_p.T978T|GPR64_ENST00000379869.3_Silent_p.T981T|GPR64_ENST00000356606.4_Silent_p.T967T|GPR64_ENST00000379876.1_Silent_p.T957T|GPR64_ENST00000379878.3_Silent_p.T965T|GPR64_ENST00000379873.2_Silent_p.T930T|GPR64_ENST00000340581.3_Silent_p.T862T			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	981					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GCTGTTTTCCAGTGAAATCGT	0.453000													24	115					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189870959	189870959	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:189870959G>T	ENST00000304636.3	+	42	3237	c.3067G>T	c.(3067-3069)Ggc>Tgc	p.G1023C	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1023	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTCTTCCAGGCCGAGATGG	0.363000													7	48					1.06961e-07	1.70648e-07	1	1	0
OR4B1	119765	broad.mit.edu	37	11	48238491	48238491	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:48238491G>A	ENST00000309562.2	+	1	148	c.130G>A	c.(130-132)Gtt>Att	p.V44I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCCTCATCGTTCTGACGGT	0.522000													44	120					0	0	1	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75559952	75559952	+	Splice_Site	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:75559952G>A	ENST00000398706.2	+	22	5066	c.4849_splice	c.e22+1	p.V1617_splice	NDST2_ENST00000456638.1_Intron|ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000605216.1_Splice_Site_p.V1612_splice|ZSWIM8_ENST00000604524.1_Splice_Site_p.V1430_splice|ZSWIM8_ENST00000604729.1_Intron	NM_015037.3	NP_055852.2			zinc finger, SWIM-type containing 8																		CCAGGGAACAGGTGAATGGAG	0.587000													5	29					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429563	42429563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:42429563C>T	ENST00000053867.3	+	11	1422	c.1360C>T	c.(1360-1362)Cag>Tag	p.Q454*	GRN_ENST00000589265.1_Nonsense_Mutation_p.Q297*	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	454				Q -> G (in Ref. 3; AAA58617).	signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCCGGTGGGGCAGACCTGCTG	0.672000													4	55					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16035675	16035675	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:16035675C>T	ENST00000326742.7	-	5	544	c.543G>A	c.(541-543)ctG>ctA	p.L181L	CYP4F11_ENST00000402119.3_Silent_p.L181L|CYP4F11_ENST00000248041.7_Silent_p.L181L			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	181					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CCTCTGAGGCCAGGCGCTGCC	0.537000													10	37					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48663851	48663851	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:48663851G>T	ENST00000334136.5	+	5	496	c.318G>T	c.(316-318)ccG>ccT	p.P106P	HDAC6_ENST00000444343.2_Silent_p.P120P|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_Silent_p.P51P|HDAC6_ENST00000376619.2_Silent_p.P106P			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	106	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCAGCTTCCCGGAAGGCCCTG	0.587000													3	13					0.115264	0.120451	1	1	0
HSPA1L	3305	broad.mit.edu	37	6	31778728	31778728	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:31778728C>T	ENST00000375654.4	-	2	1211	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G341D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	341					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GCGGGTGGAGCCCCCTACTAA	0.522000													6	43					0	0	1	0	0
IGHV1OR16-4	28312	broad.mit.edu	37	16	33013864	33013864	+	RNA	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr16:33013864G>T	ENST00000567619.1	-	0	499																											CTCCTGCCAGGCTTCTGGATA	0.552000													11	112					5.50884e-06	7.67565e-06	1	1	0
CACNG4	27092	broad.mit.edu	37	17	65026640	65026640	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:65026640T>A	ENST00000262138.3	+	4	506	c.504T>A	c.(502-504)agT>agA	p.S168R		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	168					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			GTGACCCGAGTGACAAGCGGG	0.547000													12	117					0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52397241	52397241	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:52397241C>A	ENST00000396954.3	-	5	1002	c.325G>T	c.(325-327)Gac>Tac	p.D109Y	MOCS2_ENST00000584946.1_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000361377.4_Intron|MOCS2_ENST00000508922.1_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TGCCTAATGTCACTACAAATC	0.358000													8	149					0.0477658	0.0505471	1	1	0
CEP41	95681	broad.mit.edu	37	7	130042489	130042489	+	Splice_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:130042489C>A	ENST00000223208.4	-	7	844	c.574_splice	c.e7+1	p.A192_splice	CEP41_ENST00000541543.1_Splice_Site_p.A176_splice|CEP41_ENST00000343969.5_Splice_Site_p.A192_splice	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa	192	Rhodanese.				G2/M transition of mitotic cell cycle	centrosome|cytosol											TCTCTCTTACCTCCAACAATG	0.507000													9	91					0.00621372	0.00681715	1	1	0
TSGA10	80705	broad.mit.edu	37	2	99681428	99681428	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:99681428C>A	ENST00000393483.3	-	16	2222	c.1378G>T	c.(1378-1380)Gat>Tat	p.D460Y	TSGA10_ENST00000355053.4_Missense_Mutation_p.D460Y|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000410001.1_Missense_Mutation_p.D460Y|TSGA10_ENST00000539964.1_Missense_Mutation_p.D460Y	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	460					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTGAGGGAATCTACTTTTTCT	0.373000													7	58					2.17888e-05	2.91914e-05	1	1	0
LUM	4060	broad.mit.edu	37	12	91502627	91502627	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:91502627G>T	ENST00000266718.4	-	2	584	c.130C>A	c.(130-132)Cct>Act	p.P44T	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	44	Cys-rich.|LRRNT.				collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TAGCTTTCAGGGCAGTTACAT	0.428000													8	62					5.18039e-06	7.26646e-06	1	1	0
APMAP	57136	broad.mit.edu	37	20	24944498	24944498	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:24944498C>T	ENST00000217456.2	-	9	1492	c.1202G>A	c.(1201-1203)gGc>gAc	p.G401D	APMAP_ENST00000447138.1_3'UTR	NM_020531.2	NP_065392.1			adipocyte plasma membrane associated protein																		CCTGAAAGAGCCCAGGTACAG	0.622000													13	74					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41601807	41601807	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:41601807G>T	ENST00000330436.3	+	9	1446	c.1446G>T	c.(1444-1446)acG>acT	p.T482T		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	482					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCTTTGCCACGATCCCACGAA	0.612000													26	89					4.06085e-26	8.61642e-26	1	1	0
FBXO18	84893	broad.mit.edu	37	10	5965660	5965660	+	Splice_Site	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:5965660G>T	ENST00000379999.5	+	17	2655		c.e17+1		FBXO18_ENST00000397269.3_Splice_Site|FBXO18_ENST00000362091.4_Splice_Site|FBXO18_ENST00000379994.1_Intron	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CGGAGGAAACGTGAGTACCCA	0.493000													6	23					0.0293803	0.03117	1	1	0
LILRA3	11026	broad.mit.edu	37	19	54803210	54803210	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:54803210A>G	ENST00000391745.1	-	8	834	c.518T>C	c.(517-519)cTg>cCg	p.L173P	LILRA3_ENST00000251390.3_Missense_Mutation_p.L156P|LILRA3_ENST00000391744.3_Missense_Mutation_p.L156P					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCCTTACACAGAATGAAGCC	0.577000													12	131					0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89607332	89607332	+	Splice_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:89607332C>A	ENST00000294671.2	-	9	1504		c.e9-1			NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7							integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CCTCGTCTGCCTGAAGAACCA	0.473000													11	62					5.16669e-11	9.30894e-11	1	1	0
CMTM5	116173	broad.mit.edu	37	14	23847615	23847615	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr14:23847615G>T	ENST00000359320.3	+	2	628	c.184G>T	c.(184-186)Gcg>Tcg	p.A62S	CMTM5_ENST00000339180.4_Missense_Mutation_p.A62S|CMTM5_ENST00000555731.1_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000382809.2_Missense_Mutation_p.A62S|CMTM5_ENST00000397227.3_Intron	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	62	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		CTACATGGCCGCGGCGCTACT	0.567000													17	77					4.7546e-09	8.11194e-09	1	1	0
LOC645166	645166	broad.mit.edu	37	1	148932887	148932887	+	RNA	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:148932887G>T	ENST00000539543.1	+	0	143					NR_027355.1																						GTGAGGTACAGGCTCAGTCTG	0.637000													7	130					0.00307968	0.0034792	1	1	0
RNF165	494470	broad.mit.edu	37	18	44013280	44013280	+	Silent	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr18:44013280C>A	ENST00000269439.7	+	2	240	c.189C>A	c.(187-189)ggC>ggA	p.G63G	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	63							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CGCAGCCAGGCCTCAGCGCCC	0.731000													4	15					1	1	1	1	0
CAMKK2	10645	broad.mit.edu	37	12	121686512	121686512	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:121686512C>A	ENST00000324774.5	-	14	2177	c.1349G>T	c.(1348-1350)gGg>gTg	p.G450V	CAMKK2_ENST00000347034.2_Intron|CAMKK2_ENST00000545538.1_Missense_Mutation_p.G237V|CAMKK2_ENST00000392473.2_Missense_Mutation_p.G450V|CAMKK2_ENST00000412367.2_Missense_Mutation_p.G450V|CAMKK2_ENST00000446440.2_Intron|CAMKK2_ENST00000392474.2_Missense_Mutation_p.G450V|CAMKK2_ENST00000404169.3_Missense_Mutation_p.G450V|CAMKK2_ENST00000337174.3_Missense_Mutation_p.G450V|CAMKK2_ENST00000402834.4_Missense_Mutation_p.G450V|CAMKK2_ENST00000538733.1_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	450					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGCTCCGCCCCATGCCTCGT	0.642000													10	110					7.03913e-09	1.19608e-08	1	1	0
NPAS1	4861	broad.mit.edu	37	19	47524413	47524413	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:47524413C>A	ENST00000602212.1	+	2	329	c.109C>A	c.(109-111)Ccg>Acg	p.P37T	NPAS1_ENST00000449844.2_Missense_Mutation_p.P37T|NPAS1_ENST00000602189.1_Intron			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	37					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GGTCAAGGCGCCGTCCGGACC	0.711000													4	9					0.184627	0.191025	1	1	0
USP29	57663	broad.mit.edu	37	19	57642003	57642003	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:57642003C>A	ENST00000254181.4	+	4	2414	c.1960C>A	c.(1960-1962)Cag>Aag	p.Q654K	USP29_ENST00000598197.1_Missense_Mutation_p.Q654K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	654					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTGATGGACCAGGGAGACAT	0.498000													11	40					1.58986e-06	2.34001e-06	1	1	0
KHDRBS3	10656	broad.mit.edu	37	8	136554896	136554896	+	Splice_Site	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:136554896G>T	ENST00000355849.5	+	3	617		c.e3-1		KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3						regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.?(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATTTTTCCTAGTTCAACTTTG	0.358000													15	47					6.31663e-08	1.02737e-07	1	1	0
ANKRD20A8P	729171	broad.mit.edu	37	2	95494789	95494789	+	RNA	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:95494789C>G	ENST00000432432.2	-	0	1155					NR_040113.1																						TTGTACTGCTCCTTTCACAGC	0.343000													28	87					0	0	1	0	0
MAX	4149	broad.mit.edu	37	14	65543199	65543199	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr14:65543199T>A	ENST00000358402.4	-	4	615	c.451A>T	c.(451-453)Agc>Tgc	p.S151C	MAX_ENST00000555932.1_Silent_p.P73P|MAX_ENST00000341653.2_Intron|MAX_ENST00000557277.1_Missense_Mutation_p.S97C|MAX_ENST00000555419.1_Missense_Mutation_p.S124C|MAX_ENST00000358664.4_Missense_Mutation_p.S160C|MAX_ENST00000284165.6_3'UTR	NM_145112.1	NP_660087.1	P61244	MAX_HUMAN	MYC associated factor X	160					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTGGCTTAGCTGGCCTCCATC	0.562000													8	111					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31747282	31747282	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:31747282G>C	ENST00000375663.3	-	28	3760	c.3320C>G	c.(3319-3321)gCc>gGc	p.A1107G		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1107					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAGCTCAAGGGCGGCTTCTGC	0.687000													7	21					0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31890868	31890868	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:31890868C>G	ENST00000253354.1	+	11	1289	c.1128C>G	c.(1126-1128)ttC>ttG	p.F376L	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	376						extracellular space	lipid binding										GCCCTTTGTTCACCCTGGGCA	0.522000													24	56					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196651868	196651868	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:196651868G>T	ENST00000312428.6	-	58	10844	c.10744C>A	c.(10744-10746)Ctg>Atg	p.L3582M	DNAH7_ENST00000409063.1_Missense_Mutation_p.L65M	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3582	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AAGAAACACAGGCCATAAAGC	0.353000													6	60					0.00116845	0.0013492	1	1	0
ACTR5	79913	broad.mit.edu	37	20	37400434	37400434	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:37400434G>T	ENST00000243903.4	+	9	1836	c.1799G>T	c.(1798-1800)gGa>gTa	p.G600V		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	600					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GCTGCTGGTGGAGGTGGTGCT	0.627000													4	24					0.217242	0.222567	1	1	0
GPR112	139378	broad.mit.edu	37	X	135430882	135430882	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:135430882G>T	ENST00000394143.1	+	6	5308	c.5017G>T	c.(5017-5019)Ggc>Tgc	p.G1673C	GPR112_ENST00000287534.4_Missense_Mutation_p.G1610C|GPR112_ENST00000412101.1_Missense_Mutation_p.G1468C|GPR112_ENST00000370652.1_Missense_Mutation_p.G1673C|GPR112_ENST00000394141.1_Missense_Mutation_p.G1468C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1673					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCATTTGTAGGCACCACTGC	0.468000													32	204					4.74835e-14	9.18894e-14	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18289689	18289689	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:18289689C>A	ENST00000377369.2	+	11	1967	c.1694C>A	c.(1693-1695)tCa>tAa	p.S565*	SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.S564*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.S431*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.S528*	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	565	Poly-Ser.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCCTTCTCATCATCATCCGAG	0.448000													11	47					3.86212e-05	4.96728e-05	1	1	0
COBLL1	22837	broad.mit.edu	37	2	165551079	165551079	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:165551079C>A	ENST00000375458.2	-	11	3044	c.2823G>T	c.(2821-2823)caG>caT	p.Q941H	COBLL1_ENST00000194871.6_Missense_Mutation_p.Q1046H|COBLL1_ENST00000409184.3_Missense_Mutation_p.Q979H|COBLL1_ENST00000392717.2_Missense_Mutation_p.Q1017H|COBLL1_ENST00000342193.4_Missense_Mutation_p.Q979H	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1017										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CAGCAGGAGCCTGACCGATGA	0.468000													7	49					0.00198382	0.00224725	1	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135263663	135263663	+	Missense_Mutation	SNP	C	C	A	rs143751098	by1000genomes	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:135263663C>A	ENST00000265605.2	-	3	394	c.326G>T	c.(325-327)cGg>cTg	p.R109L	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.R109L|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.R109L	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	109					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CTGCACAGACCGGGGAATGTC	0.527000													7	41					0.00198382	0.00224725	1	1	0
SHANK1	50944	broad.mit.edu	37	19	51191244	51191244	+	Silent	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:51191244C>A	ENST00000293441.1	-	17	2262	c.2244G>T	c.(2242-2244)acG>acT	p.T748T	SHANK1_ENST00000391814.1_Silent_p.T748T|SHANK1_ENST00000359082.3_Silent_p.T739T|SHANK1_ENST00000391813.1_Silent_p.T135T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	748	PDZ.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCACCATCAGCGTGTTGCCCC	0.612000													15	69					2.32078e-09	4.00863e-09	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1054593	1054593	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:1054593G>T	ENST00000263094.6	+	28	3982	c.3751G>T	c.(3751-3753)Ggc>Tgc	p.G1251C	ABCA7_ENST00000433129.1_Missense_Mutation_p.G1251C|ABCA7_ENST00000435683.2_Missense_Mutation_p.G1113C	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1251					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCTTTGTGGGCCTGGCCCT	0.627000													6	48					0.00198382	0.00224725	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190203558	190203558	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:190203558A>T	ENST00000367462.3	-	5	899	c.668T>A	c.(667-669)cTa>cAa	p.L223Q	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.L121Q	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		223						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GACAGAATCTAGGTTGTCATA	0.383000													5	62					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114249016	114249016	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:114249016C>A	ENST00000371936.1	-	5	617	c.368G>T	c.(367-369)tGg>tTg	p.W123L	IL13RA2_ENST00000243213.1_Missense_Mutation_p.W123L			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	123	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						AGTTTCTGCCCAGGAACTTTG	0.363000													11	130					1.08611e-07	1.71318e-07	1	1	0
ZNF479	90827	broad.mit.edu	37	7	57193762	57193762	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:57193762C>A	ENST00000331162.4	-	4	495	c.225G>T	c.(223-225)caG>caT	p.Q75H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTTTATATTCTGGGACTCTT	0.408000													9	116					2.17888e-05	2.91914e-05	1	1	0
ANK3	288	broad.mit.edu	37	10	61829755	61829755	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:61829755C>G	ENST00000280772.1	-	37	11075	c.10884G>C	c.(10882-10884)agG>agC	p.R3628S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3628					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAAATTGGAGCCTCTCTTCAA	0.478000													8	66					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64456793	64456793	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:64456793G>C	ENST00000355086.3	+	7	1422	c.898G>C	c.(898-900)Gac>Cac	p.D300H	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.D300H|SRGAP1_ENST00000543397.1_Missense_Mutation_p.D260H	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	300					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGAGGGCTTAGACATTATTGA	0.453000													12	72					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557497	214557497	+	Silent	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:214557497C>G	ENST00000366956.5	-	13	1895	c.1701G>C	c.(1699-1701)ccG>ccC	p.P567P	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	567	Poly-Pro.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GGTAGGGGGGCGGTGGCCTGA	0.657000													6	66					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107609	168107609	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:168107609C>A	ENST00000409195.1	+	9	9796	c.9707C>A	c.(9706-9708)cCt>cAt	p.P3236H	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P3014H|XIRP2_ENST00000295237.9_Missense_Mutation_p.P3236H|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3061					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						GACTCTCCACCTACAATCACA	0.438000													9	83					0.00448238	0.00499636	1	1	0
NRK	203447	broad.mit.edu	37	X	105153139	105153139	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:105153139G>T	ENST00000428173.2	+	13	1812	c.1509G>T	c.(1507-1509)caG>caT	p.Q503H	NRK_ENST00000243300.9_Missense_Mutation_p.Q502H			Q7Z2Y5	NRK_HUMAN	Nik related kinase	502	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AAAAGCAGCAGGCCCAGACCC	0.567000										HNSCC(51;0.14)			8	64					5.18039e-06	7.26646e-06	1	1	0
NBPF10	100132406	broad.mit.edu	37	1	145311839	145311839	+	Missense_Mutation	SNP	A	A	T	rs58277049		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:145311839A>T	ENST00000369338.1	+	10	1278	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	NBPF10_ENST00000369339.2_Intron|RP11-458D21.5_ENST00000468030.1_Intron|NBPF10_ENST00000342960.5_Intron			A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	636										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CAGGACTCACAGGATAGATGT	0.473000													3	15					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321071	79321071	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr9:79321071G>A	ENST00000428286.1	-	8	6242	c.5042C>T	c.(5041-5043)cCa>cTa	p.P1681L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P2040L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2040					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTCCTCACTTGGGGTAGAGCC	0.502000													12	63					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58234014	58234014	+	Missense_Mutation	SNP	G	G	A	rs121434552		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:58234014G>A	ENST00000300900.4	+	3	305	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	69					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|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)	AAACTGGGACGCTTCTTCTTC	0.572000													8	52					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967389	81967389	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr4:81967389A>G	ENST00000282701.2	+	2	1134	c.814A>G	c.(814-816)Aaa>Gaa	p.K272E		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	272					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AACTGTTCCCAAATGGGATAG	0.512000													7	93					0	0	1	0	0
KRTAP5-5	439915	broad.mit.edu	37	11	1651703	1651703	+	Silent	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:1651703C>A	ENST00000399676.2	+	1	671	c.633C>A	c.(631-633)tcC>tcA	p.S211S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	211	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTGGATCATCCTGCTGCCAAT	0.587000													9	168					7.48243e-07	1.11702e-06	1	1	0
ZNF615	284370	broad.mit.edu	37	19	52496195	52496195	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:52496195C>A	ENST00000602063.1	-	6	2483	c.2134G>T	c.(2134-2136)Gat>Tat	p.D712Y	ZNF615_ENST00000376716.5_Missense_Mutation_p.D712Y|ZNF615_ENST00000391795.3_Missense_Mutation_p.D717Y|ZNF615_ENST00000594083.1_Missense_Mutation_p.D723Y|ZNF615_ENST00000598071.1_Missense_Mutation_p.D723Y			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTCCCACAATCACTACATCCA	0.448000													21	145					8.34094e-07	1.24075e-06	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163279950	163279950	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:163279950T>C	ENST00000332142.5	-	9	2149	c.2050A>G	c.(2050-2052)Aaa>Gaa	p.K684E	KCNH7_ENST00000328032.4_Missense_Mutation_p.K677E	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	684					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATGAACTCTTTTACTCGCAGC	0.443000													19	146					0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296432	20296432	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr14:20296432C>A	ENST00000315947.1	+	1	825	c.825C>A	c.(823-825)caC>caA	p.H275Q	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCTTCCACACAGTGATTT	0.433000													15	174					6.81908e-15	1.3382e-14	1	1	0
SYPL2	284612	broad.mit.edu	37	1	110022120	110022120	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:110022120G>T	ENST00000369872.3	+	6	985	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	SYPL2_ENST00000401021.3_Missense_Mutation_p.G193C	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	257						integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		ccagggccaggGTCCCAGCCA	0.632000													6	71					3.59834e-05	4.67113e-05	1	1	0
NSMAF	8439	broad.mit.edu	37	8	59520391	59520391	+	Silent	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:59520391C>A	ENST00000038176.3	-	11	908	c.696G>T	c.(694-696)gtG>gtT	p.V232V	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Silent_p.V263V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	232	GRAM.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTATCTGGACCACAGGTTTCT	0.438000													22	64					2.27731e-05	3.04126e-05	1	1	0
AMPD1	270	broad.mit.edu	37	1	115217454	115217454	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:115217454A>T	ENST00000369538.3	-	12	1853	c.1806T>A	c.(1804-1806)tgT>tgA	p.C602*	AMPD1_ENST00000353928.6_Nonsense_Mutation_p.C573*|AMPD1_ENST00000520113.2_Nonsense_Mutation_p.C606*	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	573					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CAGCTTCTCCACAGTGAGGTC	0.453000													10	55					0	0	1	0	0
CCDC83	220047	broad.mit.edu	37	11	85593585	85593585	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:85593585G>T	ENST00000280245.4	+	4	722	c.210G>T	c.(208-210)tgG>tgT	p.W70C	CCDC83_ENST00000529676.2_Intron|CCDC83_ENST00000376067.1_Missense_Mutation_p.W27C|CCDC83_ENST00000342404.3_Missense_Mutation_p.W70C	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	70										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AACAGATTTGGCACATACGGC	0.388000													23	69					1.22574e-08	2.07433e-08	1	1	0
TPX2	22974	broad.mit.edu	37	20	30370062	30370062	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:30370062C>T	ENST00000340513.4	+	12	1701	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P	TPX2_ENST00000300403.6_Silent_p.P355P			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	355					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACCTGTTACCCTCCAAATCTT	0.483000													42	136					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126774201	126774201	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:126774201C>T	ENST00000274473.6	+	18	2442	c.2175C>T	c.(2173-2175)agC>agT	p.S725S	MEGF10_ENST00000503335.2_Silent_p.S725S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	725	EGF-like 13.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTTTCTGCAGCGCCTACGATG	0.537000													17	93					0	0	1	0	0
APOOL	139322	broad.mit.edu	37	X	84329284	84329284	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:84329284G>T	ENST00000373173.2	+	8	692	c.605G>T	c.(604-606)gGa>gTa	p.G202V		NM_198450.5	NP_940852.3	Q6UXV4	APOOL_HUMAN	apolipoprotein O-like	202						extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						AAACAGCTAGGATCCTCTTCC	0.398000													5	35					1.23904e-05	1.68703e-05	1	1	0
PRRX1	5396	broad.mit.edu	37	1	170705230	170705230	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:170705230C>A	ENST00000239461.6	+	4	954	c.641C>A	c.(640-642)cCt>cAt	p.P214H	PRRX1_ENST00000367760.3_3'UTR|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.P214R(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACAATAGCCCTGCACAGGGC	0.493000													14	198					3.27435e-08	5.36737e-08	1	1	0
KSR2	283455	broad.mit.edu	37	12	118198870	118198870	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:118198870C>T	ENST00000425217.1	-	4	899	c.845G>A	c.(844-846)aGc>aAc	p.S282N	KSR2_ENST00000339824.5_Missense_Mutation_p.S311N	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	311	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGGATTTGCTCCGATGCAG	0.652000													11	92					0	0	1	0	0
PRSS23	11098	broad.mit.edu	37	11	86518702	86518702	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:86518702G>T	ENST00000280258.5	+	2	442	c.17G>T	c.(16-18)gGg>gTg	p.G6V	PRSS23_ENST00000441050.1_Missense_Mutation_p.G6V|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	6					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGGATTCCAGGGCTCCTCTTC	0.552000													8	115					1.06961e-07	1.70648e-07	1	1	0
HYDIN	54768	broad.mit.edu	37	16	71012867	71012867	+	Missense_Mutation	SNP	C	C	T	rs79049769		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr16:71012867C>T	ENST00000393567.2	-	30	4738	c.4588G>A	c.(4588-4590)Gat>Aat	p.D1530N		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1530										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCAAAGTGATCGAGCATTTCA	0.488000													7	52					0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	58980033	58980033	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:58980033C>G	ENST00000589222.1	+	11	859	c.791C>G	c.(790-792)tCt>tGt	p.S264C	BCAS3_ENST00000588462.1_Missense_Mutation_p.S264C|BCAS3_ENST00000588874.1_Missense_Mutation_p.S35C|BCAS3_ENST00000408905.3_Missense_Mutation_p.S264C|BCAS3_ENST00000390652.5_Missense_Mutation_p.S264C|BCAS3_ENST00000585744.1_Missense_Mutation_p.S35C|BCAS3_ENST00000407086.3_Missense_Mutation_p.S264C			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	264						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AACATTCAGTCTTATACTGCC	0.418000													35	95					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63176028	63176028	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:63176028A>G	ENST00000263991.5	+	14	2634	c.2152A>G	c.(2152-2154)Aca>Gca	p.T718A	EHBP1_ENST00000405289.1_Missense_Mutation_p.T683A|EHBP1_ENST00000405015.3_Missense_Mutation_p.T683A|EHBP1_ENST00000431489.1_Missense_Mutation_p.T683A|EHBP1_ENST00000354487.3_Missense_Mutation_p.T683A	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	718						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TTGTGAGGAGACAGATGAACA	0.363000													7	34					0	0	1	0	0
GSTM5	2949	broad.mit.edu	37	1	110255340	110255340	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:110255340C>A	ENST00000369813.1	+	0	194				GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5						xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GTGTCCGGGCCCTGCCCACTC	0.627000													5	57					0.014758	0.0158991	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11675981	11675981	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:11675981G>T	ENST00000423059.3	-	2	1049	c.798C>A	c.(796-798)ccC>ccA	p.P266P		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	266						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCGGGAGTGGGGCATTGAGC	0.572000										HNSCC(18;0.044)			29	68					2.14196e-07	3.32839e-07	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62288078	62288078	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:62288078C>A	ENST00000378024.4	-	5	14085	c.13811G>T	c.(13810-13812)gGt>gTt	p.G4604V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4604					nervous system development	nucleus	protein binding			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)				CACCTTTGGACCTTTCAGATT	0.507000													10	138					7.48243e-07	1.11702e-06	1	1	0
CHEK1	1111	broad.mit.edu	37	11	125514032	125514032	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:125514032G>T	ENST00000534070.1	+	10	1225	c.970G>T	c.(970-972)Ggt>Tgt	p.G324C	CHEK1_ENST00000524737.1_Missense_Mutation_p.G324C|CHEK1_ENST00000544373.1_Missense_Mutation_p.G324C|CHEK1_ENST00000438015.1_Missense_Mutation_p.G324C|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Missense_Mutation_p.G324C|CHEK1_ENST00000278916.3_Missense_Mutation_p.G324C|CHEK1_ENST00000427383.2_Missense_Mutation_p.G340C	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	324					cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		ACCCCGCACAGGTCTTTCCTT	0.403000								Other conserved DNA damage response genes					7	133					5.18039e-06	7.26646e-06	1	1	0
PPP2R5D	5528	broad.mit.edu	37	6	42974756	42974756	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:42974756G>T	ENST00000485511.1	+	4	609	c.430G>T	c.(430-432)Gtg>Ttg	p.V144L	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.V136L|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.V112L|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.V38L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	144					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATTCAAGGAGGTGAAGCGGGC	0.547000													7	137					8.12818e-05	0.000102646	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105418020	105418020	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr14:105418020C>A	ENST00000333244.5	-	7	3887	c.3768G>T	c.(3766-3768)atG>atT	p.M1256I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1256						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)			CCACTTTGGGCATCTTCAAAC	0.622000													22	163					1.2644e-06	1.87419e-06	1	1	0
SLC26A10	65012	broad.mit.edu	37	12	58014086	58014086	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:58014086C>T	ENST00000379218.2	+	1	394	c.83C>T	c.(82-84)cCc>cTc	p.P28L	SLC26A10_ENST00000320442.4_Missense_Mutation_p.P28L			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	28						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GACAAGGCCCCCTCCCCACAG	0.532000													18	442					0	0	1	0	0
C1orf95	375057	broad.mit.edu	37	1	226736724	226736724	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:226736724G>T	ENST00000366788.3	+	1	224	c.119G>T	c.(118-120)gGc>gTc	p.G40V	C1orf95_ENST00000366789.4_Missense_Mutation_p.G40V	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	40						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GAGAAGAAGGGCCCCCTGCGC	0.741000													3	8					0.004672	0.00516639	1	1	0
PVRL1	5818	broad.mit.edu	37	11	119545905	119545905	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:119545905C>G	ENST00000264025.3	-	5	1497	c.967G>C	c.(967-969)Ggt>Cgt	p.G323R	PVRL1_ENST00000340882.2_Missense_Mutation_p.G323R|PVRL1_ENST00000341398.2_Missense_Mutation_p.G323R	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	323	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GAGCGTGTACCGATGGGGTTG	0.607000													10	31					0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29464845	29464845	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:29464845C>A	ENST00000182377.4	+	8	1185	c.917C>A	c.(916-918)aCa>aAa	p.T306K	FAR2_ENST00000547116.1_Missense_Mutation_p.T209K|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.T306K	NM_018099.3	NP_060569.3	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	306					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TACCACATTACATCTGGTAAC	0.313000													8	43					0.307466	0.313465	1	1	0
MEFV	4210	broad.mit.edu	37	16	3293247	3293247	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr16:3293247G>A	ENST00000219596.1	-	10	2279	c.2240C>T	c.(2239-2241)tCt>tTt	p.S747F	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Missense_Mutation_p.S536F|MEFV_ENST00000339854.4_Missense_Mutation_p.S567F	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	747	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCCAGAGAAAGAGCAGCTGGC	0.542000													18	69					0	0	1	0	0
CYP11B2	1585	broad.mit.edu	37	8	143996561	143996561	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:143996561T>A	ENST00000323110.2	-	3	498	c.496A>T	c.(496-498)Agg>Tgg	p.R166W		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	166					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GAGAAGTCCCTGGCCACTGCA	0.617000									Familial Hyperaldosteronism type I				4	33					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16348093	16348093	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:16348093G>A	ENST00000408042.1	-	23	4034	c.3877C>T	c.(3877-3879)Cct>Tct	p.P1293S	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCCGGAGGAGGTATGTTTCGA	0.443000													19	170					0	0	1	0	0
SLC35C2	51006	broad.mit.edu	37	20	44983789	44983789	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:44983789G>C	ENST00000372227.1	-	6	1040	c.500C>G	c.(499-501)gCc>gGc	p.A167G	SLC35C2_ENST00000372230.5_Missense_Mutation_p.A167G|SLC35C2_ENST00000543605.1_Missense_Mutation_p.A196G|SLC35C2_ENST00000243896.2_Missense_Mutation_p.A167G|SLC35C2_ENST00000372229.1_Missense_Mutation_p.A34G|SLC35C2_ENST00000317734.8_Missense_Mutation_p.A146G			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	167					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CAGCACCAAGGCGAAGCCCTC	0.617000													13	46					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057225	120057225	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:120057225T>C	ENST00000235547.6	+	4	1224	c.1085T>C	c.(1084-1086)cTt>cCt	p.L362P	HSD3B1_ENST00000369413.3_Missense_Mutation_p.L360P|HSD3B1_ENST00000528909.1_Missense_Mutation_p.L360P	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	360					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GTTGGTTCCCTTGTGGACCGG	0.498000													16	53					0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23708876	23708876	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:23708876C>T	ENST00000290271.2	-	3	713	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	STC1_ENST00000524323.1_Missense_Mutation_p.A75T	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	144					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TCAGTGATGGCTTCAGGGTTC	0.537000													19	101					0	0	1	0	0
TDGF1P3	6998	broad.mit.edu	37	X	109764732	109764732	+	RNA	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:109764732C>A	ENST00000602699.1	+	0	1193					NR_002718.2																						CCTGGCTGCCCAAGAAGTGTT	0.572000													19	103					1.28384e-07	2.01746e-07	1	1	0
HCN1	348980	broad.mit.edu	37	5	45262353	45262353	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:45262353C>T	ENST00000303230.4	-	8	2400	c.2343G>A	c.(2341-2343)cgG>cgA	p.R781R		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	781						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R781R(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCCTGACTTCCCGGGTCAGGT	0.632000													6	57					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172447	68172447	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:68172447C>G	ENST00000243457.3	+	2	1650	c.1267C>G	c.(1267-1269)Cga>Gga	p.R423G	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R423G	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	423					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GCCCTTACGGCGAGAGTCGGA	0.493000													16	102					0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107439762	107439762	+	Silent	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:107439762G>A	ENST00000394872.2	-	15	1107	c.876C>T	c.(874-876)atC>atT	p.I292I	COL4A6_ENST00000372216.4_Silent_p.I295I|COL4A6_ENST00000545689.1_Silent_p.I294I|COL4A6_ENST00000538570.1_Silent_p.I294I|COL4A6_ENST00000334504.7_Silent_p.I294I			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	295	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GCAAACCAGGGATtccctttt	0.423000									Alport syndrome with Diffuse Leiomyomatosis				8	27					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980822	40980822	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:40980822C>A	ENST00000373198.3	-	10	1899	c.1664G>T	c.(1663-1665)gGt>gTt	p.G555V	PTPRT_ENST00000373187.1_Missense_Mutation_p.G555V|PTPRT_ENST00000373190.1_Missense_Mutation_p.G555V|PTPRT_ENST00000373201.1_Missense_Mutation_p.G555V|PTPRT_ENST00000373184.1_Missense_Mutation_p.G555V|PTPRT_ENST00000373193.3_Missense_Mutation_p.G555V|PTPRT_ENST00000356100.2_Missense_Mutation_p.G555V	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	555	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGTACAGACCCACAAAGAG	0.562000													10	82					2.17888e-05	2.91914e-05	1	1	0
OR51B2	79345	broad.mit.edu	37	11	5345428	5345428	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:5345428C>A	ENST00000328813.2	-	1	154	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATGCACACATAAACAGCA	0.517000											OREG0003719	type=REGULATORY REGION|Gene=OR51B2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	66					3.09899e-07	4.76241e-07	1	1	0
RFX7	64864	broad.mit.edu	37	15	56386666	56386666	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:56386666T>A	ENST00000423270.1	-	9	3259	c.3260A>T	c.(3259-3261)cAg>cTg	p.Q1087L	RFX7_ENST00000559447.2_Missense_Mutation_p.Q990L|RFX7_ENST00000317318.6_Missense_Mutation_p.Q1087L|RFX7_ENST00000422057.1_Missense_Mutation_p.Q990L	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	990					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CACTAGTTCCTGATAGCTTGG	0.448000													25	95					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135693	55135693	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:55135693G>T	ENST00000314706.3	+	1	334	c.334G>T	c.(334-336)Gac>Tac	p.D112Y		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AATGATTGTTGACTTGCTCTC	0.423000													24	160					5.35356e-11	9.60424e-11	1	1	0
BTNL2	56244	broad.mit.edu	37	6	32370842	32370842	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:32370842G>T	ENST00000454136.3	-	3	583	c.579C>A	c.(577-579)atC>atA	p.I193I	BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000374993.1_Silent_p.I193I			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	193	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CTTTATCTTGGATGCGATGCT	0.587000													7	26					1.12685e-05	1.55453e-05	1	1	0
CDH10	1008	broad.mit.edu	37	5	24537748	24537748	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:24537748G>T	ENST00000264463.4	-	3	774	c.267C>A	c.(265-267)ctC>ctA	p.L89L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	89	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGATATATTTGAGTGATCCAT	0.368000										HNSCC(23;0.051)			6	49					3.59834e-05	4.67113e-05	1	1	0
CDH20	28316	broad.mit.edu	37	18	59221667	59221667	+	Silent	SNP	G	G	T	rs35315610	byFrequency	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr18:59221667G>T	ENST00000262717.4	+	12	2543	c.2145G>T	c.(2143-2145)acG>acT	p.T715T	CDH20_ENST00000538374.1_Silent_p.T715T|CDH20_ENST00000536675.2_Silent_p.T715T			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	715					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGCCTCAGACGTGCGCAGTGA	0.667000													7	23					2.0095e-06	2.92672e-06	1	1	0
USH2A	7399	broad.mit.edu	37	1	216595629	216595629	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:216595629A>G	ENST00000366943.2	-	2	436	c.50T>C	c.(49-51)aTt>aCt	p.I17T	USH2A_ENST00000366942.3_Missense_Mutation_p.I17T|USH2A_ENST00000307340.3_Missense_Mutation_p.I17T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	17					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAACATTTCAATGACCTGAAA	0.393000										HNSCC(13;0.011)			11	36					0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127933409	127933409	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr9:127933409C>A	ENST00000451402.1	-	3	457	c.237G>T	c.(235-237)caG>caT	p.Q79H	PPP6C_ENST00000415905.1_Missense_Mutation_p.Q42H|PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000373547.4_Missense_Mutation_p.Q42H	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	42					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTGATACTGGCTGAACATTTG	0.358000													20	95					4.26978e-12	7.9323e-12	1	1	0
BOD1L1	259282	broad.mit.edu	37	4	13606501	13606501	+	Missense_Mutation	SNP	C	C	A	rs140143416		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr4:13606501C>A	ENST00000040738.5	-	10	2158	c.2023G>T	c.(2023-2025)Gat>Tat	p.D675Y		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	675	Lys-rich.						DNA binding										CTTTTTACATCTCTTGTGTCA	0.393000													28	205					3.80469e-20	7.91225e-20	1	1	0
ZNF573	126231	broad.mit.edu	37	19	38229860	38229860	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:38229860C>T	ENST00000339503.4	-	8	1858	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R	ZNF573_ENST00000392138.1_Missense_Mutation_p.G424R|ZNF573_ENST00000357309.3_Missense_Mutation_p.G423R|ZNF573_ENST00000536220.1_Missense_Mutation_p.G423R|ZNF573_ENST00000590414.2_Missense_Mutation_p.G511R	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTAAGATATCCATGCAAGCTA	0.353000													8	76					0	0	1	0	0
CRELD2	79174	broad.mit.edu	37	22	50316929	50316929	+	Missense_Mutation	SNP	T	T	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr22:50316929T>G	ENST00000404488.3	+	8	1018	c.883T>G	c.(883-885)Ttc>Gtc	p.F295V	CRELD2_ENST00000403427.3_Intron|CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000328268.4_Missense_Mutation_p.F246V|CRELD2_ENST00000407217.3_Missense_Mutation_p.F246V	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	246	EGF-like 2; calcium-binding (Potential).		S -> A (in dbSNP:rs11545762).			endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		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;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CGCTGCGCAGTTCTGTAAGAA	0.677000													4	19					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768093	31768093	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:31768093G>T	ENST00000240587.4	-	2	2933	c.2606C>A	c.(2605-2607)tCc>tAc	p.S869Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	869					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGACTTCTCGGAGATGCTGGA	0.567000													5	86					0.000602214	0.000711089	1	1	0
ABCD1	215	broad.mit.edu	37	X	152994853	152994853	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:152994853G>T	ENST00000218104.3	+	2	1466	c.1067G>T	c.(1066-1068)gGc>gTc	p.G356V	ABCD1_ENST00000370129.4_Missense_Mutation_p.G171V	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	356	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTGCCACTGGCTACTCAGAG	0.612000													7	64					2.0095e-06	2.92672e-06	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31918623	31918623	+	Silent	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:31918623C>A	ENST00000396184.3	-	5	615	c.411G>T	c.(409-411)ggG>ggT	p.G137G	PDE1C_ENST00000396182.2_Silent_p.G137G|PDE1C_ENST00000396191.1_Silent_p.G137G|PDE1C_ENST00000396193.1_Silent_p.G197G|PDE1C_ENST00000321453.7_Silent_p.G137G	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	137					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CCACAAATATCCCAGCCTGCA	0.498000													18	94					6.49762e-13	1.21794e-12	1	1	0
MTHFD1L	25902	broad.mit.edu	37	6	151266630	151266630	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:151266630G>T	ENST00000367321.3	+	15	1850	c.1576G>T	c.(1576-1578)Gtg>Ttg	p.V526L		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	526	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGTTCCTTTAGTGAATGGTGT	0.358000													4	66					0.00024832	0.000305288	1	1	0
KIAA0408	9729	broad.mit.edu	37	6	127767643	127767643	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:127767643C>T	ENST00000483725.3	-	5	2157	c.1821G>A	c.(1819-1821)atG>atA	p.M607I	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	607							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CCATTTGGAGCATTTCTAAAT	0.428000													21	177					0	0	1	0	0
CYP11A1	1583	broad.mit.edu	37	15	74630319	74630319	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:74630319C>A	ENST00000358632.4	-	9	1781	c.1086G>T	c.(1084-1086)caG>caT	p.Q362H	CYP11A1_ENST00000419019.2_Missense_Mutation_p.Q362H|CYP11A1_ENST00000268053.6_Missense_Mutation_p.Q520H	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	520					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTGATCACTGCTGGGTTGCTT	0.572000													5	47					0.000602214	0.000711089	1	1	0
RELA	5970	broad.mit.edu	37	11	65422434	65422434	+	Silent	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:65422434G>A	ENST00000406246.3	-	11	1332	c.1071C>T	c.(1069-1071)acC>acT	p.T357T	RELA_ENST00000525693.1_3'UTR|RELA_ENST00000308639.9_Silent_p.T354T	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	357					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CATAGTTGATGGTGCTCAGGG	0.612000													3	4					0	0	1	0	0
RRAS2	22800	broad.mit.edu	37	11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	rs113954997		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:14316390T>A	ENST00000545643.1	-	3	546	c.233A>T	c.(232-234)cAa>cTa	p.Q78L	RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000532814.1_5'UTR	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393000													6	129					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23521220	23521220	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:23521220A>T	ENST00000296682.3	+	6	622	c.440A>T	c.(439-441)cAg>cTg	p.Q147L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	147					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGCTCAGAGCAGGCTCAGAAA	0.433000										HNSCC(3;0.000094)			7	78					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140774638	140774638	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:140774638A>T	ENST00000398604.2	+	1	2258	c.2258A>T	c.(2257-2259)tAt>tTt	p.Y753F	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGACCTATTCCCAGGAA	0.577000													11	72					0	0	1	0	0
MMD2	221938	broad.mit.edu	37	7	4959885	4959885	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:4959885G>T	ENST00000404774.3	-	3	401	c.207C>A	c.(205-207)gcC>gcA	p.A69A	MMD2_ENST00000406755.1_Silent_p.A69A|MMD2_ENST00000401401.3_Silent_p.A69A	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	69						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CGTAGATCCAGGCAGAGATGG	0.622000													3	6					0.115264	0.120451	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22940650	22940650	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:22940650G>T	ENST00000397104.3	-	5	1787	c.1788C>A	c.(1786-1788)aaC>aaA	p.N596K	ZNF99_ENST00000596209.1_Missense_Mutation_p.N687K					zinc finger protein 99											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)				CTGAGAAATGGTTAAAAGCCT	0.378000													9	50					0.00448238	0.00499636	1	1	0
CHRND	1144	broad.mit.edu	37	2	233394809	233394809	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:233394809C>T	ENST00000536614.1	+	6	698	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	CHRND_ENST00000258385.3_Silent_p.I260I|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000543200.1_Silent_p.I245I			Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	0					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GCGTGCTCATCTCCTTCATGG	0.622000													17	66					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471226	76471226	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:76471226T>A	ENST00000396423.2	+	8	1171	c.1047T>A	c.(1045-1047)ttT>ttA	p.F349L	HNF4G_ENST00000354370.1_Missense_Mutation_p.F312L	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	312					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TTAAACTTTTTGGGATGGTTA	0.388000													8	122					0	0	1	0	0
COX4I1	1327	broad.mit.edu	37	16	85840373	85840373	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr16:85840373A>G	ENST00000562336.1	+	5	596	c.403A>G	c.(403-405)Aaa>Gaa	p.K135E	COX4I1_ENST00000561569.1_Missense_Mutation_p.K135E|COX4I1_ENST00000564903.1_3'UTR|COX4I1_ENST00000253452.2_Missense_Mutation_p.K135E|COX4I1_ENST00000568794.1_3'UTR			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	135					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				AAGCTTTGACAAAGAGTGGGT	0.537000													15	48					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158284179	158284179	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr4:158284179G>A	ENST00000296526.7	+	15	2960	c.2635G>A	c.(2635-2637)Gaa>Aaa	p.E879K	GRIA2_ENST00000449365.1_Missense_Mutation_p.E832K|GRIA2_ENST00000393815.2_Missense_Mutation_p.E832K|GRIA2_ENST00000507898.1_Missense_Mutation_p.E832K|GRIA2_ENST00000264426.9_Missense_Mutation_p.E879K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	879					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.E879K(3)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATATGGCATCGAAAGTGTTAA	0.373000													9	123					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82436173	82436173	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:82436173G>T	ENST00000370728.1	+	18	3542	c.2897G>T	c.(2896-2898)gGa>gTa	p.G966V	LPHN2_ENST00000370730.1_Missense_Mutation_p.G966V|LPHN2_ENST00000394879.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370727.1_Missense_Mutation_p.G966V|LPHN2_ENST00000271029.4_Missense_Mutation_p.G966V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370725.1_Missense_Mutation_p.G966V|LPHN2_ENST00000370721.1_Missense_Mutation_p.G891V|LPHN2_ENST00000319517.6_Missense_Mutation_p.G953V|LPHN2_ENST00000370713.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370715.1_Missense_Mutation_p.G953V|LPHN2_ENST00000370717.2_Missense_Mutation_p.G966V|LPHN2_ENST00000359929.3_Missense_Mutation_p.G953V|LPHN2_ENST00000335786.5_Missense_Mutation_p.G966V|LPHN2_ENST00000370723.1_Missense_Mutation_p.G953V			O95490	LPHN2_HUMAN	latrophilin 2	966					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.G953V(1)|p.G966V(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACAGTGGTTGGAGTTTCAGCT	0.358000													16	66					0.000308642	0.000373949	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24891012	24891012	+	Silent	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:24891012T>A	ENST00000396432.2	-	13	3228	c.2742A>T	c.(2740-2742)tcA>tcT	p.S914S	ARHGAP21_ENST00000320481.6_Silent_p.S701S|ARHGAP21_ENST00000493154.1_5'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	913					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGTCTTCTGATGACTTTTGGC	0.428000													5	41					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287668	16287668	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr22:16287668C>A	ENST00000343518.6	-	1	269	c.218G>T	c.(217-219)aGg>aTg	p.R73M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	73										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCCGCTCCCCCTGCACCAGGG	0.572000													27	683					2.08457e-15	4.11014e-15	1	1	0
OR56A4	120793	broad.mit.edu	37	11	6023772	6023772	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:6023772C>A	ENST00000330728.4	-	1	652	c.607G>T	c.(607-609)Gtt>Ttt	p.V203F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGCTATAACAAAGACCACG	0.483000													10	46					0.000442599	0.000531628	1	1	0
SULT4A1	25830	broad.mit.edu	37	22	44234846	44234846	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr22:44234846C>A	ENST00000330884.4	-	4	529	c.409G>T	c.(409-411)Gat>Tat	p.D137Y	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Missense_Mutation_p.D137Y	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	137					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		ACCACCAGATCCTTGGGGTTG	0.562000													16	44					1.99824e-07	3.11665e-07	1	1	0
MATN4	8785	broad.mit.edu	37	20	43926908	43926908	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:43926908C>G	ENST00000537548.1	-	8	1572	c.1328G>C	c.(1327-1329)cGg>cCg	p.R443P	MATN4_ENST00000372754.1_Missense_Mutation_p.R484P|MATN4_ENST00000360607.5_Missense_Mutation_p.R402P|MATN4_ENST00000372753.1_Missense_Mutation_p.R294P|MATN4_ENST00000353917.5_Missense_Mutation_p.R361P|MATN4_ENST00000372751.4_Missense_Mutation_p.R294P|MATN4_ENST00000342716.4_Missense_Mutation_p.R443P|MATN4_ENST00000372756.1_Missense_Mutation_p.R443P			O95460	MATN4_HUMAN	matrilin 4	484	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GGCACGGGGCCGTGCACCCTG	0.667000													18	62					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718462	142718462	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:142718462G>T	ENST00000381779.4	-	2	688	c.463C>A	c.(463-465)Cac>Aac	p.H155N	SLITRK4_ENST00000356928.1_Missense_Mutation_p.H155N|SLITRK4_ENST00000338017.4_Missense_Mutation_p.H155N	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	155						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGTTTGTGGAGCTTATTG	0.398000													21	106					2.37509e-13	4.53328e-13	1	1	0
MGAT5B	146664	broad.mit.edu	37	17	74934157	74934157	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:74934157C>G	ENST00000569840.2	+	13	2090	c.1516C>G	c.(1516-1518)Cca>Gca	p.P506A	MGAT5B_ENST00000301618.4_Missense_Mutation_p.P504A|MGAT5B_ENST00000428789.2_Missense_Mutation_p.P515A	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	506						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCGAGGTGCCAGCCTTTGT	0.577000													16	48					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527661	23527661	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:23527661C>A	ENST00000296682.3	+	11	2646	c.2464C>A	c.(2464-2466)Cac>Aac	p.H822N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	822					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCTCCTCAGACACCAGAGGAC	0.572000										HNSCC(3;0.000094)			30	68					1.30897e-18	2.68211e-18	1	1	0
KCNJ16	3773	broad.mit.edu	37	17	68128525	68128525	+	Silent	SNP	T	T	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:68128525T>C	ENST00000585558.1	+	4	790	c.402T>C	c.(400-402)caT>caC	p.H134H	KCNJ16_ENST00000589377.1_Silent_p.H99H|KCNJ16_ENST00000392670.1_Silent_p.H99H|KCNJ16_ENST00000586462.1_Silent_p.H138H|KCNJ16_ENST00000392671.1_Silent_p.H99H|KCNJ16_ENST00000283936.1_Silent_p.H99H			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	99					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					CCTTTCATCATGGCGATCTAT	0.423000													16	72					0	0	1	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92814926	92814926	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:92814926G>T	ENST00000378487.2	-	3	167	c.166C>A	c.(166-168)Cca>Aca	p.P56T	CLLU1OS_ENST00000538965.1_Missense_Mutation_p.P56T	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	56								p.P56S(1)		large_intestine(1)|lung(7)	8						TCATAGTTTGGAGGTAAACTT	0.418000													31	118					2.4375e-19	5.04393e-19	1	1	0
AQP2	359	broad.mit.edu	37	12	50349277	50349277	+	Silent	SNP	G	G	A	rs143104356	byFrequency	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:50349277G>A	ENST00000199280.3	+	4	787	c.702G>A	c.(700-702)ctG>ctA	p.L234L	RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	234					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CGGAGCGCCTGGCAGTGCTGA	0.687000													3	28					0	0	1	0	0
USP27X	389856	broad.mit.edu	37	X	49645643	49645643	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:49645643C>A	ENST00000508866.2	+	1	1174	c.733C>A	c.(733-735)Cca>Aca	p.P245T		NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked	245					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)	7						GCCCATGAGCCCAGGGAGGGA	0.582000													4	6					0.00909568	0.00987531	1	1	0
GSDMA	284110	broad.mit.edu	37	17	38122659	38122659	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:38122659G>T	ENST00000301659.4	+	3	479	c.361G>T	c.(361-363)Gct>Tct	p.A121S		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	121					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ACTCAGTGTGGCTCCCAAGGC	0.622000													4	53					0.000274275	0.000333276	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11411691	11411691	+	Translation_Start_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:11411691C>A	ENST00000458100.2	-	0	585				CTNND2_ENST00000511377.1_Missense_Mutation_p.Q41H|CTNND2_ENST00000304623.8_Missense_Mutation_p.Q132H|CTNND2_ENST00000503622.1_Missense_Mutation_p.Q41H|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q132H			Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2						multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTCCTGATTCCTGTAGTGACC	0.378000													8	65					1.12685e-05	1.55453e-05	1	1	0
KIR2DL4	3805	broad.mit.edu	37	19	55324701	55324701	+	Silent	SNP	G	G	A	rs1135578		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:55324701G>A	ENST00000396284.2	+	6	822	c.822G>A	c.(820-822)caG>caA	p.Q274Q	KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000463062.1_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000359085.4_Intron|KIR3DL1_ENST00000538269.1_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCACGAAGCAGAGGCCAGAGA	0.542000													4	1					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57202800	57202800	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:57202800T>C	ENST00000343433.6	-	15	1833	c.1753A>G	c.(1753-1755)Att>Gtt	p.I585V	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	585										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCATAAATAATAACTTCCTGA	0.333000													3	32					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6138619	6138619	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:6138619G>T	ENST00000261405.5	-	22	3110	c.2856C>A	c.(2854-2856)caC>caA	p.H952Q		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	952	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCACCTCAAAGTGAGTCTCAT	0.572000													8	68					5.18039e-06	7.26646e-06	1	1	0
CPO	130749	broad.mit.edu	37	2	207814383	207814383	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:207814383G>T	ENST00000272852.3	+	2	157	c.111G>T	c.(109-111)gtG>gtT	p.V37V		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	37					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		ACAAGTCAGTGAGTCCATGGA	0.488000													13	44					3.41278e-10	6.04467e-10	1	1	0
WDR62	284403	broad.mit.edu	37	19	36580087	36580087	+	Splice_Site	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:36580087G>T	ENST00000401500.2	+	15	1872	c.1836_splice	c.e15-1	p.G613_splice	WDR62_ENST00000270301.7_Splice_Site_p.G613_splice	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	613					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCCCTGCCAGGGTTCGGATGG	0.597000													6	27					5.9392e-07	8.9624e-07	1	1	0
CARD8	22900	broad.mit.edu	37	19	48734112	48734112	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:48734112C>T	ENST00000391898.3	-	6	736	c.694G>A	c.(694-696)Ggc>Agc	p.G232S	CARD8_ENST00000520015.1_Missense_Mutation_p.G232S|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Missense_Mutation_p.G182S|CARD8_ENST00000359009.4_Missense_Mutation_p.G127S|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Missense_Mutation_p.G182S|CARD8_ENST00000521613.1_Missense_Mutation_p.G182S|CARD8_ENST00000520753.1_Missense_Mutation_p.G232S|CARD8_ENST00000519940.1_Missense_Mutation_p.G232S	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	127					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		AACAAGGGGCCGCCCACCAGC	0.597000													9	47					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902762	74902762	+	Splice_Site	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:74902762G>T	ENST00000357877.2	+	11	1631		c.e11+1		SEMA4F_ENST00000339773.5_Splice_Site|SEMA4F_ENST00000473350.1_Splice_Site	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F						cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						ATTGTACCACGTGAGTTGTAG	0.527000													5	64					0.217242	0.222567	1	1	0
NPAP1	23742	broad.mit.edu	37	15	24922480	24922480	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:24922480G>A	ENST00000329468.2	+	1	1940	c.1466G>A	c.(1465-1467)gGa>gAa	p.G489E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCAGTCGTAGGAGCAGCGCCT	0.512000													25	213					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218669320	218669320	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:218669320G>C	ENST00000171887.4	-	33	5522	c.5070C>G	c.(5068-5070)ttC>ttG	p.F1690L	TNS1_ENST00000419504.1_Missense_Mutation_p.F1676L|TNS1_ENST00000430930.1_Missense_Mutation_p.F1669L	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1690						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCACGAAGCCGAAGAGCCTGC	0.652000													8	26					0	0	1	0	0
OR6S1	341799	broad.mit.edu	37	14	21109485	21109485	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr14:21109485C>T	ENST00000320704.3	-	1	365	c.366G>A	c.(364-366)gcG>gcA	p.A122A		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GGTAGCGATCCGCAGACATGA	0.547000													6	61					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777551	123777551	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:123777551C>A	ENST00000321355.2	+	1	443	c.413C>A	c.(412-414)cCt>cAt	p.P138H		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		ATCATGTCCCCTAGGGTCTGT	0.512000													9	188					1.08611e-07	1.71318e-07	1	1	0
FZD5	7855	broad.mit.edu	37	2	208632199	208632199	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:208632199C>A	ENST00000295417.3	-	2	1818	c.1265G>T	c.(1264-1266)gGc>gTc	p.G422V		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	422					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CGACACGAAGCCCGCCAGCAG	0.632000													9	26					0.000274275	0.000333276	1	1	0
RYR2	6262	broad.mit.edu	37	1	237754187	237754187	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:237754187G>T	ENST00000366574.2	+	31	4372	c.4055G>T	c.(4054-4056)gGc>gTc	p.G1352V	RYR2_ENST00000360064.6_Missense_Mutation_p.G1350V|RYR2_ENST00000542537.1_Missense_Mutation_p.G1336V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1352	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGCTCATGGCCATCTAGTG	0.478000													18	45					7.05477e-17	1.41774e-16	1	1	0
ADORA1	134	broad.mit.edu	37	1	203098202	203098202	+	Missense_Mutation	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:203098202A>T	ENST00000367236.4	+	2	1154	c.233A>T	c.(232-234)cAc>cTc	p.H78L	ADORA1_ENST00000337894.4_Missense_Mutation_p.H78L|ADORA1_ENST00000309502.3_Missense_Mutation_p.H78L|ADORA1_ENST00000367235.1_Missense_Mutation_p.H78L	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	78					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ACCTACTTCCACACCTGCCTC	0.612000													42	130					0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52824860	52824860	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:52824860A>G	ENST00000490272.1	+	3	165	c.101A>G	c.(100-102)cAg>cGg	p.Q34R	ZNF480_ENST00000595962.1_Silent_p.A119A|ZNF480_ENST00000335090.6_Silent_p.A42A|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.A76A			Q8WV37	ZN480_HUMAN	zinc finger protein 480	90	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GAAGCAATGCAGAAGACAAAC	0.368000													5	47					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128490928	128490928	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:128490928G>T	ENST00000325888.8	+	33	5731	c.5470G>T	c.(5470-5472)Gtg>Ttg	p.V1824L	FLNC_ENST00000346177.6_Missense_Mutation_p.V1791L|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1824					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCATCACGGTGAGGTATGC	0.612000													14	102					1.5842e-08	2.65942e-08	1	1	0
OR4C46	119749	broad.mit.edu	37	11	51515609	51515609	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:51515609G>T	ENST00000328188.1	+	1	328	c.328G>T	c.(328-330)Ggc>Tgc	p.G110C		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AGGTGCAGAGGGCATCCTACT	0.468000													13	127					0.00136819	0.0015755	1	1	0
MC2R	4158	broad.mit.edu	37	18	13884734	13884734	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr18:13884734C>T	ENST00000327606.3	-	2	964	c.784G>A	c.(784-786)Ggc>Agc	p.G262S		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	262					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATCAACATGCCGTTCACCTGG	0.517000													14	68					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088706	94088706	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr14:94088706C>T	ENST00000553484.1	+	31	5347	c.5193C>T	c.(5191-5193)aaC>aaT	p.N1731N	UNC79_ENST00000555664.1_Silent_p.N1709N|UNC79_ENST00000256339.4_Silent_p.N1532N|UNC79_ENST00000393151.2_Silent_p.N1709N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1709						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CAGCAGGGAACACTGACTCTG	0.527000													15	81					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112070550	112070550	+	Splice_Site	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:112070550G>T	ENST00000357685.5	+	6	1000	c.865_splice	c.e6+1	p.G289_splice	SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000438022.1_Splice_Site_p.G255_splice|BCO2_ENST00000361053.4_Splice_Site_p.G216_splice|BCO2_ENST00000393032.2_Splice_Site_p.G255_splice|BCO2_ENST00000526088.1_Splice_Site_p.G255_splice|BCO2_ENST00000531169.1_Splice_Site_p.G255_splice|BCO2_ENST00000532593.1_Splice_Site_p.G184_splice			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	289			G -> E (in dbSNP:rs17113607).		carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CCATAGCTTTGGTGAGTCCAG	0.443000													27	73					7.38237e-10	1.29114e-09	1	1	0
TMTC1	83857	broad.mit.edu	37	12	29709922	29709922	+	Missense_Mutation	SNP	C	C	T	rs141015646	byFrequency	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:29709922C>T	ENST00000256062.5	-	10	1693	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	TMTC1_ENST00000551659.1_Missense_Mutation_p.R577H|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.R469H|TMTC1_ENST00000552618.1_Missense_Mutation_p.R539H|TMTC1_ENST00000539277.1_Missense_Mutation_p.R515H	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	515						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ACTTGCATGGCGTGGATACAA	0.448000													9	54					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24564863	24564863	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr16:24564863G>T	ENST00000319715.4	+	4	765	c.333G>T	c.(331-333)ctG>ctT	p.L111L	RBBP6_ENST00000348022.2_Silent_p.L111L|RBBP6_ENST00000381039.3_Silent_p.L111L	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	111					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CTATTTCTCTGGCCCAGCTTA	0.308000													5	74					3.59834e-05	4.67113e-05	1	1	0
PRKG1	5592	broad.mit.edu	37	10	53227550	53227550	+	Silent	SNP	G	G	T	rs73336216	byFrequency	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:53227550G>T	ENST00000373980.4	+	3	963	c.546G>T	c.(544-546)ggG>ggT	p.G182G	PRKG1_ENST00000373985.1_Silent_p.G155G|PRKG1_ENST00000401604.2_Silent_p.G167G	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	167					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		AAGTGTTTGGGGAATTGGCTA	0.373000													7	53					0.000157383	0.000196965	1	1	0
NALCN	259232	broad.mit.edu	37	13	102029383	102029383	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr13:102029383C>A	ENST00000251127.6	-	5	481	c.400G>T	c.(400-402)Gat>Tat	p.D134Y	NALCN_ENST00000376200.5_Missense_Mutation_p.D134Y|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.D134Y	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	134						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)					GACATCTGATCAACTATATCA	0.408000													9	33					0.000673444	0.000786312	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11141499	11141499	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:11141499G>C	ENST00000358026.2	+	25	3760	c.3476G>C	c.(3475-3477)gGg>gCg	p.G1159A	SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1159A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1159A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1159A|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1159A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1159A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1159A|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1159A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1159A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1159	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.L1161fs*3(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACCCGGGCTGGGGGGCTCGGC	0.617000			"""F, N, Mis"""		NSCLC								3	8					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61306523	61306523	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr18:61306523C>G	ENST00000341074.5	-	7	779	c.664G>C	c.(664-666)Gcc>Ccc	p.A222P	SERPINB4_ENST00000356424.6_Intron	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TCCAGCAAGGCAAAATTAAAG	0.393000													8	65					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39575887	39575887	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr18:39575887G>C	ENST00000262039.4	+	8	906	c.820G>C	c.(820-822)Gcc>Ccc	p.A274P	PIK3C3_ENST00000398870.3_Missense_Mutation_p.A211P	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	274				KLA -> NLP (in Ref. 1; CAA87094).	cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CCACAAGCTTGCCCGGAGTTT	0.333000										TSP Lung(28;0.18)			10	46					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46920997	46920997	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:46920997T>C	ENST00000378623.1	-	5	730	c.488A>G	c.(487-489)gAg>gGg	p.E163G		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	163	LDL-receptor class A 4.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTACCAATGCTCAGCAATGCA	0.597000													26	74					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173213	207173213	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:207173213G>T	ENST00000374423.3	+	5	4347	c.3961G>T	c.(3961-3963)Ggc>Tgc	p.G1321C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1321							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGATGATAAGGGCTATGTGCC	0.388000													9	33					0.00448238	0.00499636	1	1	0
PPP2R2B	5521	broad.mit.edu	37	5	146080608	146080608	+	Splice_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:146080608C>A	ENST00000394413.3	-	2	738	c.168_splice	c.e2+1	p.E56_splice	PPP2R2B_ENST00000394410.2_Splice_Site_p.E45_splice|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394411.4_Splice_Site_p.E56_splice|PPP2R2B_ENST00000508545.2_Splice_Site_p.E45_splice|PPP2R2B_ENST00000453001.1_Splice_Site_p.E56_splice|PPP2R2B_ENST00000336640.6_Splice_Site_p.E59_splice|PPP2R2B_ENST00000504198.1_Splice_Site_p.E62_splice|PPP2R2B_ENST00000356826.3_Splice_Site_p.E56_splice|PPP2R2B_ENST00000394414.1_Splice_Site_p.E122_splice|PPP2R2B_ENST00000394409.3_Splice_Site_p.E114_splice			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	56					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCACTTACCTCCTGCTCTC	0.463000													50	319					3.4597e-24	7.30381e-24	1	1	0
RASAL3	64926	broad.mit.edu	37	19	15565474	15565474	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:15565474C>T	ENST00000343625.6	-	12	2032	c.1952G>A	c.(1951-1953)cGt>cAt	p.R651H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	651					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTACGGGGCACGGTTGGCGAG	0.662000											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	26					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44297173	44297173	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:44297173G>T	ENST00000329255.3	-	2	605	c.502C>A	c.(502-504)Cct>Act	p.P168T		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	168					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						TCAGAGTCAGGGGGTAACTCT	0.582000													19	41					3.99206e-14	7.7613e-14	1	1	0
LPCAT2	54947	broad.mit.edu	37	16	55562321	55562321	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr16:55562321G>T	ENST00000262134.5	+	3	528	c.344G>T	c.(343-345)gGt>gTt	p.G115V		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	115					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AAATTTCTGGGTCGTGCTATG	0.353000													5	64					0.014758	0.0158991	1	1	0
SGCZ	137868	broad.mit.edu	37	8	14181647	14181647	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:14181647G>T	ENST00000382080.1	-	3	1016	c.301C>A	c.(301-303)Ctt>Att	p.L101I	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	88					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TACAATGGAAGTAGAAACTCA	0.348000													12	41					0.00010058	0.000126634	1	1	0
ATP2A2	488	broad.mit.edu	37	12	110783143	110783143	+	Silent	SNP	G	G	T	rs117494432	byFrequency	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:110783143G>T	ENST00000395494.2	+	17	3179	c.2616G>T	c.(2614-2616)gcG>gcT	p.A872A	ATP2A2_ENST00000539276.2_Silent_p.A899A|ATP2A2_ENST00000308664.6_Silent_p.A899A			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	899					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGACAATGGCGCTCTCTGTTC	0.507000													14	141					1.5842e-08	2.65942e-08	1	1	0
SLITRK6	84189	broad.mit.edu	37	13	86369536	86369536	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr13:86369536G>T	ENST00000400286.2	-	2	1706	c.1108C>A	c.(1108-1110)Cta>Ata	p.L370I		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	370						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTTCCCGCTAGAATGAGCTTT	0.393000													7	64					1.06961e-07	1.70648e-07	1	1	0
ABCA9	10350	broad.mit.edu	37	17	67039722	67039722	+	Silent	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:67039722T>A	ENST00000340001.4	-	6	919	c.708A>T	c.(706-708)acA>acT	p.T236T	ABCA9_ENST00000453985.2_Silent_p.T236T|ABCA9_ENST00000495634.1_Silent_p.T236T|ABCA9_ENST00000370732.2_Silent_p.T236T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	236					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGTATATAAATGTAGAAAAAG	0.338000													10	56					0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48053949	48053949	+	Splice_Site	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:48053949G>T	ENST00000316364.5	+	7	977		c.e7+1		SEMA6D_ENST00000536845.2_Splice_Site|SEMA6D_ENST00000355997.3_Splice_Site|SEMA6D_ENST00000389433.2_Splice_Site|SEMA6D_ENST00000558816.1_Splice_Site|SEMA6D_ENST00000354744.4_Splice_Site|SEMA6D_ENST00000558014.1_Splice_Site|SEMA6D_ENST00000389432.2_Splice_Site|SEMA6D_ENST00000389425.3_Splice_Site|SEMA6D_ENST00000537942.1_Splice_Site|SEMA6D_ENST00000389428.3_Splice_Site|SEMA6D_ENST00000358066.4_Splice_Site	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D						axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTCTTTGCTGGTAAGATCCTT	0.368000													17	60					8.60227e-14	1.64943e-13	1	1	0
PPHLN1	51535	broad.mit.edu	37	12	42781256	42781256	+	Splice_Site	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:42781256A>T	ENST00000432191.2	+	6	475		c.e6-1		PPHLN1_ENST00000449194.2_Splice_Site|PPHLN1_ENST00000256678.8_Splice_Site|PPHLN1_ENST00000395580.3_Splice_Site|PPHLN1_ENST00000549190.1_Splice_Site|PPHLN1_ENST00000552761.1_Splice_Site|PPHLN1_ENST00000317560.9_Splice_Site|PPHLN1_ENST00000358314.7_Splice_Site|PPHLN1_ENST00000395568.2_Splice_Site|PPHLN1_ENST00000337898.6_Splice_Site	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1						keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTTCTTATATAGATAAAGAGA	0.299000													11	44					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631350	179631350	+	Missense_Mutation	SNP	G	G	T	rs145054790		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:179631350G>T	ENST00000444136.1	+	15	2684	c.2434G>T	c.(2434-2436)Gcc>Tcc	p.A812S	TDRD5_ENST00000367614.1_Missense_Mutation_p.A758S|TDRD5_ENST00000294848.8_Missense_Mutation_p.A758S	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	808					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.A758T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGTGATGCTGCCTCCCATCT	0.433000													16	58					4.7546e-09	8.11194e-09	1	1	0
CTNND2	1501	broad.mit.edu	37	5	11411690	11411690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:11411690C>A	ENST00000304623.8	-	5	586	c.397G>T	c.(397-399)Gaa>Taa	p.E133*	CTNND2_ENST00000511377.1_Nonsense_Mutation_p.E42*|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.E42*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.E133*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	133					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATTCCTGATTCCTGTAGTGAC	0.378000													8	64					1.12685e-05	1.55453e-05	1	1	0
MEX3B	84206	broad.mit.edu	37	15	82335554	82335554	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:82335554C>T	ENST00000329713.4	-	2	2092	c.1657G>A	c.(1657-1659)Gag>Aag	p.E553K	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	553					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACCGGGCACTCGGGCTCGCTC	0.632000													12	61					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071295	9071295	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:9071295C>A	ENST00000397910.4	-	3	16354	c.16151G>T	c.(16150-16152)aGc>aTc	p.S5384I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5386	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						AGACTCTGGGCTTGTTGTGCC	0.517000													46	158					3.76604e-16	7.53207e-16	1	1	0
SRRM1	10250	broad.mit.edu	37	1	24981384	24981384	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:24981384C>T	ENST00000323848.9	+	9	1394	c.1079C>T	c.(1078-1080)tCa>tTa	p.S360L	SRRM1_ENST00000374389.4_Missense_Mutation_p.S355L|SRRM1_ENST00000537199.1_Missense_Mutation_p.242_242insY|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.S360L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	360	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		GGGAGTAGCTCATCATCCTCT	0.463000													19	108					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75893333	75893333	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:75893333C>A	ENST00000322507.8	-	10	1633	c.1324G>T	c.(1324-1326)Gtg>Ttg	p.V442L	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V442L|COL12A1_ENST00000483888.2_Missense_Mutation_p.V442L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	442	VWFA 2.			IV -> M (in Ref. 4; AAC01506).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCAAAAACACAATATCGGCT	0.303000													6	78					5.18039e-06	7.26646e-06	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7725033	7725033	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:7725033G>T	ENST00000303635.7	+	9	2633	c.2426G>T	c.(2425-2427)gGg>gTg	p.G809V	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G809V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	809					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAGAGGACGGGGCGCGGGCC	0.682000			T	WWTR1	epitheliod hemangioendothelioma								23	154					0.000229342	0.000285312	1	1	0
CHST1	8534	broad.mit.edu	37	11	45671729	45671729	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:45671729C>A	ENST00000308064.2	-	4	1415	c.745G>T	c.(745-747)Gac>Tac	p.D249Y		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	249					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity	p.D249N(1)		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)		CGGTACGTGTCGCGGAAGGTC	0.647000													25	54					1.39806e-14	2.73078e-14	1	1	0
TMLHE	55217	broad.mit.edu	37	X	154736726	154736726	+	Silent	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:154736726A>G	ENST00000334398.3	-	6	973	c.828T>C	c.(826-828)taT>taC	p.Y276Y	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Silent_p.Y276Y	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	276					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GTTCTGCTGCATAGAATCCAT	0.388000													30	158					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117824037	117824037	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:117824037C>A	ENST00000439649.3	-	10	1622	c.1255G>T	c.(1255-1257)Ggt>Tgt	p.G419C	GFRA1_ENST00000355422.6_Missense_Mutation_p.G424C|GFRA1_ENST00000544592.1_Missense_Mutation_p.G303C|GFRA1_ENST00000369236.1_Missense_Mutation_p.G419C	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	424					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GCACCGAGACCTTCTTTTTCA	0.483000													11	46					6.40141e-05	8.1579e-05	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112357214	112357214	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr3:112357214G>T	ENST00000206423.3	-	2	2492	c.1539C>A	c.(1537-1539)agC>agA	p.S513R	CCDC80_ENST00000439685.2_Missense_Mutation_p.S513R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	513	Lys-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CAGTAGGCCGGCTGAGGTCAT	0.493000													14	77					0.00185496	0.00212431	1	1	0
OR6C68	403284	broad.mit.edu	37	12	55886198	55886198	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:55886198C>T	ENST00000379662.1	+	1	52	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	RP11-110A12.2_ENST00000555138.1_RNA|OR6C68_ENST00000548615.1_Silent_p.L13L|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA			A6NDL8	O6C68_HUMAN	olfactory receptor, family 6, subfamily C, member 68	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATTCATCCTTCTGGGACTGAC	0.393000													14	105					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894262	123894262	+	Silent	SNP	G	G	T	rs139965523		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:123894262G>T	ENST00000375024.1	+	1	543	c.543G>T	c.(541-543)ccG>ccT	p.P181P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P181P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGATGCACCGCCCATCCTGA	0.542000													13	228					2.27111e-07	3.51602e-07	1	1	0
C1QTNF3	114899	broad.mit.edu	37	5	34035752	34035752	+	Splice_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:34035752C>A	ENST00000382065.3	-	2	1121	c.415_splice	c.e2+1	p.G139_splice	C1QTNF3_ENST00000231338.7_Splice_Site_p.G66_splice	NM_181435.5	NP_852100.3	Q9BXJ4	C1QT3_HUMAN	C1q and tumor necrosis factor related protein 3	66	C1q.					collagen				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)					TCATCCTTACCTGGAATGCCA	0.522000													3	21					0.004672	0.00516639	1	1	0
PROSER1	80209	broad.mit.edu	37	13	39587157	39587157	+	Silent	SNP	C	C	A	rs111654569	byFrequency	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr13:39587157C>A	ENST00000352251.3	-	11	3065	c.2232G>T	c.(2230-2232)acG>acT	p.T744T	PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Silent_p.T722T	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	744	Ser-rich.																GAACAGCTGCCGTTGAGCTAG	0.532000													17	114					1.99824e-07	3.11665e-07	1	1	0
TBC1D3P5	440419	broad.mit.edu	37	17	25753502	25753502	+	RNA	SNP	C	C	T	rs35094692	by1000genomes	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:25753502C>T	ENST00000586223.1	+	0	1512					NR_033892.1																						CTCGGGCTCACCCCGTGCCTG	0.567000													5	53					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105456494	105456494	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:105456494C>T	ENST00000351513.2	-	4	907	c.775G>A	c.(775-777)Gcg>Acg	p.A259T		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	259					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGCATCCGCTATCACCTTA	0.493000													12	37					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46920998	46920998	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:46920998C>T	ENST00000378623.1	-	5	729	c.487G>A	c.(487-489)Gag>Aag	p.E163K		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	163	LDL-receptor class A 4.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TACCAATGCTCAGCAATGCAG	0.597000													26	74					0	0	1	0	0
NIM1K	167359	broad.mit.edu	37	5	43245938	43245938	+	Silent	SNP	C	C	A	rs55664335		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:43245938C>A	ENST00000512796.1	+	2	1560	c.61C>A	c.(61-63)Cgg>Agg	p.R21R	NIM1_ENST00000326035.2_Silent_p.R21R			Q8IY84	NIM1_HUMAN		21			R -> W.				ATP binding|magnesium ion binding|protein serine/threonine kinase activity										CCGGTGGGATCGGCGCGACAG	0.602000													27	100					5.61819e-17	1.14e-16	1	1	0
JADE3	9767	broad.mit.edu	37	X	46898398	46898398	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:46898398C>T	ENST00000218343.4	+	8	1201	c.903C>T	c.(901-903)tcC>tcT	p.S301S	PHF16_ENST00000397189.1_Silent_p.S301S	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		301					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CGAAGATCTCCCACATCCCAC	0.507000													17	91					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	402090	402090	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:402090C>A	ENST00000399788.2	-	27	5063	c.4701G>T	c.(4699-4701)aaG>aaT	p.K1567N	KDM5A_ENST00000382815.4_Missense_Mutation_p.K1567N|KDM5A_ENST00000540838.1_5'UTR	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1567	Lys-rich.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CTGCAGCAGCCTTCTCCTTCT	0.408000			T	NUP98	AML								10	133					1.76689e-08	2.94248e-08	1	1	0
RNASE11	122651	broad.mit.edu	37	14	21052353	21052353	+	Missense_Mutation	SNP	T	T	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr14:21052353T>G	ENST00000335950.4	-	3	743	c.281A>C	c.(280-282)gAc>gCc	p.D94A	RNASE11_ENST00000555841.1_Missense_Mutation_p.D94A|RNASE11_ENST00000432835.2_Missense_Mutation_p.D94A|RNASE11_ENST00000553849.1_Missense_Mutation_p.D94A|RNASE11_ENST00000398009.2_Missense_Mutation_p.D94A|RNASE11_ENST00000398008.2_Missense_Mutation_p.D94A	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	94						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		ACACTCTTTGTCATTACCCGA	0.433000													7	157					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7804733	7804733	+	Silent	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:7804733G>A	ENST00000338316.4	+	22	2900	c.2811G>A	c.(2809-2811)aaG>aaA	p.K937K	ADCY2_ENST00000537121.1_Silent_p.K757K	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	937					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GAGTTGAAAAGATTAAGACCA	0.502000													17	42					0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132016329	132016329	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:132016329G>T	ENST00000374786.1	+	2	800	c.321G>T	c.(319-321)gtG>gtT	p.V107V	NTM_ENST00000425719.2_Silent_p.V107V|NTM_ENST00000427481.2_Silent_p.V98V|NTM_ENST00000374784.1_Silent_p.V107V|NTM_ENST00000539799.1_Silent_p.V107V|NTM_ENST00000374791.3_Silent_p.V107V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	107	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACGTGGATGTGTATGACGAGG	0.572000													6	63					0.00116845	0.0013492	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98513385	98513385	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:98513385G>C	ENST00000359863.4	+	19	2448	c.2239G>C	c.(2239-2241)Gcg>Ccg	p.A747P	TRRAP_ENST00000355540.3_Missense_Mutation_p.A747P|TRRAP_ENST00000446306.3_Missense_Mutation_p.A746P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	747					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TATGGAGCTCGCGCAGACTGC	0.522000													7	57					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136509364	136509364	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr9:136509364G>A	ENST00000393056.2	+	5	958	c.946G>A	c.(946-948)Ggc>Agc	p.G316S		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	316					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGAGGAAGCCGGCCTTGCCTT	0.607000													19	61					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130042488	130042488	+	Splice_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:130042488C>A	ENST00000223208.4	-	7	845		c.e7+1		CEP41_ENST00000541543.1_Splice_Site|CEP41_ENST00000343969.5_Splice_Site	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa						G2/M transition of mitotic cell cycle	centrosome|cytosol											CTCTCTCTTACCTCCAACAAT	0.512000													9	86					0.00621372	0.00681715	1	1	0
GRIA2	2891	broad.mit.edu	37	4	158284166	158284166	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr4:158284166C>A	ENST00000296526.7	+	15	2947	c.2622C>A	c.(2620-2622)aaC>aaA	p.N874K	GRIA2_ENST00000449365.1_Missense_Mutation_p.N827K|GRIA2_ENST00000393815.2_Missense_Mutation_p.N827K|GRIA2_ENST00000507898.1_Missense_Mutation_p.N827K|GRIA2_ENST00000264426.9_Missense_Mutation_p.N874K	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	874					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N874N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAGGTTACAACGTATATGGCA	0.408000													22	102					7.87624e-14	1.51718e-13	1	1	0
KIAA0355	9710	broad.mit.edu	37	19	34838870	34838870	+	Silent	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:34838870A>G	ENST00000299505.6	+	11	3483	c.2610A>G	c.(2608-2610)ccA>ccG	p.P870P		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	870										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GTCGCCGGCCAGGCAACCCCC	0.647000													7	42					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633875	32633875	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr9:32633875C>A	ENST00000242310.4	-	1	1792	c.1703G>T	c.(1702-1704)aGg>aTg	p.R568M	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	568					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGGTTCCTCCCTGATGACACC	0.488000													32	261					3.80469e-20	7.91225e-20	1	1	0
MEOX2	4223	broad.mit.edu	37	7	15666539	15666539	+	Silent	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:15666539G>C	ENST00000262041.5	-	2	931	c.522C>G	c.(520-522)tcC>tcG	p.S174S		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	174					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTCCTTCCTGGGAGTCTGAAA	0.363000													12	82					0	0	1	0	0
ORAI1	84876	broad.mit.edu	37	12	122064794	122064794	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:122064794G>T	ENST00000330079.7	+	1	340	c.147G>T	c.(145-147)ccG>ccT	p.P49P		NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	47					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		caccgccgccgtccgccgtca	0.736000													4	24					0.00024832	0.000305288	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50054333	50054333	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:50054333C>A	ENST00000376042.1	+	6	3462	c.3164C>A	c.(3163-3165)aCc>aAc	p.T1055N	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.T1055N			Q8WWL7	CCNB3_HUMAN	cyclin B3	1055					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAAATTGGAACCAGCCCATAT	0.522000													24	123					2.79863e-10	4.97799e-10	1	1	0
NUP210L	91181	broad.mit.edu	37	1	153967592	153967592	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:153967592G>T	ENST00000368559.3	-	38	5522	c.5451C>A	c.(5449-5451)acC>acA	p.T1817T	NUP210L_ENST00000271854.3_Silent_p.T1665T|NUP210L_ENST00000368553.1_Silent_p.T598T	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1817						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGCAAAGAGGGTCAAGAGCA	0.398000													6	51					0.0293803	0.03117	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50780103	50780103	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:50780103G>C	ENST00000404971.1	-	10	2840	c.1501C>G	c.(1501-1503)Cct>Gct	p.P501A	NRXN1_ENST00000401669.2_Missense_Mutation_p.P461A|NRXN1_ENST00000406859.3_Missense_Mutation_p.P461A|NRXN1_ENST00000405472.3_Missense_Mutation_p.P453A|NRXN1_ENST00000406316.2_Missense_Mutation_p.P461A|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.P453A	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	461	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTCATCTTAGGATCTCCTTGC	0.423000													10	98					0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44059003	44059003	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:44059003G>T	ENST00000300289.5	+	8	1071	c.923G>T	c.(922-924)aGc>aTc	p.S308I	PDIA3_ENST00000538521.1_Missense_Mutation_p.S288I	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3	308					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		AAAACCTTTAGCCATGAACTT	0.458000													7	63					0.000274275	0.000333276	1	1	0
HTR1B	3351	broad.mit.edu	37	6	78173117	78173117	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:78173117C>T	ENST00000369947.2	-	1	373	c.4G>A	c.(4-6)Gag>Aag	p.E2K		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	2					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CCCGGTTCCTCCATGGCTCTC	0.667000													5	35					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095243	145095243	+	Silent	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:145095243C>G	ENST00000377470.3	+	2	747	c.645C>G	c.(643-645)gcC>gcG	p.A215A	SPATC1_ENST00000447830.2_Silent_p.A215A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	215										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCTGCTGGCCAACCCCATGA	0.687000													4	64					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63409826	63409826	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:63409826G>T	ENST00000330258.3	-	2	3613	c.3341C>A	c.(3340-3342)gCt>gAt	p.A1114D	AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									ACCTTGCTCAGCCCTCTCCTT	0.582000													3	8					6.4e-05	8.1579e-05	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11784660	11784660	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:11784660G>A	ENST00000262442.3	+	55	10804	c.10736G>A	c.(10735-10737)aGg>aAg	p.R3579K	DNAH9_ENST00000454412.2_Missense_Mutation_p.R3579K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3579	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCGTGACCAGGGATGGCCTG	0.582000													11	59					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216074237	216074237	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:216074237G>T	ENST00000366943.2	-	39	7697	c.7311C>A	c.(7309-7311)ggC>ggA	p.G2437G	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Silent_p.G2437G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2437	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGGCAGCACGCCATCTGGAG	0.483000										HNSCC(13;0.011)			9	59					0.000274275	0.000333276	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803584	185803584	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:185803584G>T	ENST00000302277.6	+	4	4055	c.3461G>T	c.(3460-3462)aGg>aTg	p.R1154M		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1154						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTAGGACCGAGGCTTTGTCCT	0.493000													15	151					1.49906e-05	2.03444e-05	1	1	0
KCNG1	3755	broad.mit.edu	37	20	49626618	49626618	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:49626618C>T	ENST00000371571.4	-	2	543	c.258G>A	c.(256-258)ctG>ctA	p.L86L	KCNG1_ENST00000396017.3_Silent_p.L86L	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	86						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCAGGCGCGTCAGCGGGAACT	0.627000													10	34					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													4	46					0	0	1	0	0
ZNF418	147686	broad.mit.edu	37	19	58437916	58437916	+	Nonsense_Mutation	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:58437916T>A	ENST00000396147.1	-	4	1924	c.1633A>T	c.(1633-1635)Aag>Tag	p.K545*	ZNF418_ENST00000595830.1_Nonsense_Mutation_p.K545*|ZNF418_ENST00000425570.3_Nonsense_Mutation_p.K566*|ZNF418_ENST00000599852.1_Nonsense_Mutation_p.K460*|ZNF418_ENST00000600989.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGAAATGACTTTCCACATTCT	0.448000													15	99					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36169749	36169749	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr9:36169749C>A	ENST00000335119.2	+	1	361	c.250C>A	c.(250-252)Cag>Aag	p.Q84K		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	84	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CACAGTGGACCAGCTTCTGGA	0.537000													17	43					2.48551e-13	4.70109e-13	1	1	0
SYT10	341359	broad.mit.edu	37	12	33579269	33579269	+	Missense_Mutation	SNP	T	T	A	rs147756240		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:33579269T>A	ENST00000228567.3	-	2	609	c.313A>T	c.(313-315)Act>Tct	p.T105S	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	105						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					AAAACTTCAGTAGGAGCACTT	0.423000													6	68					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191362	152191362	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:152191362G>T	ENST00000368801.2	-	3	2818	c.2743C>A	c.(2743-2745)Cgg>Agg	p.R915R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	915					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAAGACCGACCGGAGCCA	0.627000													46	177					1.02687e-29	2.18995e-29	1	1	0
A2M	2	broad.mit.edu	37	12	9265989	9265989	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:9265989C>T	ENST00000318602.7	-	2	544	c.237G>A	c.(235-237)gcG>gcA	p.A79A		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	79					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CGTCATTCTCCGCCTCCAGGT	0.493000													6	105					0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49084562	49084562	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr3:49084562C>A	ENST00000395443.2	-	4	1928	c.1456G>T	c.(1456-1458)Gcc>Tcc	p.A486S	QRICH1_ENST00000424300.1_Missense_Mutation_p.A486S|QRICH1_ENST00000357496.2_Missense_Mutation_p.A486S|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	486										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTGGTCTGGGCCCAGTTTTTC	0.483000													10	92					0.000673444	0.000786312	1	1	0
SEC14L3	266629	broad.mit.edu	37	22	30857594	30857594	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr22:30857594C>A	ENST00000403066.1	-	11	965	c.682G>T	c.(682-684)Ggc>Tgc	p.G228C	SEC14L3_ENST00000215812.4_Missense_Mutation_p.G287C|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G210C|SEC14L3_ENST00000539629.1_Missense_Mutation_p.G228C|SEC14L3_ENST00000415957.2_Missense_Mutation_p.G228C|SEC14L3_ENST00000402286.1_Missense_Mutation_p.G210C|SEC14L3_ENST00000401751.1_Missense_Mutation_p.G228C			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	287	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TGTGATGAGCCGCGGTTGATC	0.572000													9	36					0.00621372	0.00681715	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91132547	91132547	+	Silent	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:91132547A>G	ENST00000373094.1	+	2	2153	c.1308A>G	c.(1306-1308)ttA>ttG	p.L436L	PCDH11X_ENST00000298274.8_Silent_p.L436L|PCDH11X_ENST00000373088.1_Silent_p.L436L|PCDH11X_ENST00000395337.2_Silent_p.L436L|PCDH11X_ENST00000361724.1_Silent_p.L436L|PCDH11X_ENST00000504220.1_Silent_p.L436L|PCDH11X_ENST00000406881.1_Silent_p.L436L|PCDH11X_ENST00000373097.1_Silent_p.L436L|PCDH11X_ENST00000361655.2_Silent_p.L436L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	436	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCATTAAATTACTGGCTGCAG	0.408000													18	129					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40854020	40854020	+	Silent	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:40854020A>G	ENST00000254691.5	+	3	2785	c.2586A>G	c.(2584-2586)gcA>gcG	p.A862A	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	862					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CAGCAAGAGCAGTAGGGAAGC	0.498000													17	184					0	0	1	0	0
PDCL3	79031	broad.mit.edu	37	2	101192911	101192911	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:101192911C>T	ENST00000264254.6	+	6	1051	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	225					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTCCTCAGTGCGGCGCTCTGT	0.478000													8	80					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22397611	22397611	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:22397611G>T	ENST00000263160.3	+	10	1695	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	420					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GGTACTTGCAGTGGGATTCAG	0.393000													8	65					0.00448238	0.00499636	1	1	0
PSG5	5673	broad.mit.edu	37	19	43683302	43683302	+	Silent	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:43683302A>G	ENST00000599812.1	-	3	533	c.438T>C	c.(436-438)acT>acC	p.T146T	PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000404580.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407356.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	146					female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGGGCTTGGGAGTTTCCACTT	0.502000													18	186					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37533698	37533698	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr22:37533698G>T	ENST00000216223.5	-	6	664	c.466C>A	c.(466-468)Caa>Aaa	p.Q156K		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	156	Fibronectin type-III.				interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TGGGAGGCTTGGGAGATTTCC	0.602000													10	79					0.00829132	0.0090727	1	1	0
SYT13	57586	broad.mit.edu	37	11	45275830	45275830	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:45275830G>A	ENST00000020926.3	-	3	646	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	179	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CCTTCCAGGCGAGTCACAAAC	0.547000													18	28					0	0	1	0	0
MEMO1	51072	broad.mit.edu	37	2	32117106	32117106	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:32117106C>A	ENST00000295065.4	-	6	844	c.535G>T	c.(535-537)Gat>Tat	p.D179Y	MEMO1_ENST00000490459.1_Intron|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.D156Y|MEMO1_ENST00000404530.1_Missense_Mutation_p.D179Y|MEMO1_ENST00000379383.3_Missense_Mutation_p.D182Y	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	179					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					TTACTAGGATCCGCTAGATAT	0.373000													22	86					6.44725e-10	1.13711e-09	1	1	0
DTD2	112487	broad.mit.edu	37	14	31917363	31917363	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr14:31917363C>A	ENST00000310850.4	-	3	595	c.479G>T	c.(478-480)gGa>gTa	p.G160V	RP11-176H8.1_ENST00000547378.1_Intron|DTD2_ENST00000356180.4_Missense_Mutation_p.G160V|CTD-2213F21.2_ENST00000502430.2_RNA	NM_080664.2	NP_542395.1			D-tyrosyl-tRNA deacylase 2 (putative)																		TGTGAATGGTCCGTTGGTGTC	0.383000													44	194					1.63429e-32	3.50324e-32	1	1	0
FLT1	2321	broad.mit.edu	37	13	28901629	28901629	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr13:28901629C>T	ENST00000282397.4	-	20	3017	c.2766G>A	c.(2764-2766)aaG>aaA	p.K922K	FLT1_ENST00000540678.1_Silent_p.K140K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	922	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CACGTTTGCTCTTGAGGTAGT	0.388000													5	16					0	0	1	0	0
MPPED2	744	broad.mit.edu	37	11	30516925	30516925	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:30516925C>A	ENST00000448418.2	-	4	814	c.454G>T	c.(454-456)Gtt>Ttt	p.V152F	MPPED2_ENST00000358117.5_Missense_Mutation_p.V152F	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	152					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						AGGGACTGAACATTGTCAAAG	0.418000													19	59					5.35267e-07	8.16575e-07	1	1	0
NYAP2	57624	broad.mit.edu	37	2	226273760	226273760	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:226273760T>A	ENST00000272907.6	+	2	577	c.164T>A	c.(163-165)cTa>cAa	p.L55Q	NYAP2_ENST00000409269.2_Missense_Mutation_p.L55Q	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	55																	GAAACTAACCTAGCCTATTTG	0.363000													7	35					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9486767	9486767	+	Missense_Mutation	SNP	A	A	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr3:9486767A>C	ENST00000402466.1	+	13	1697	c.929A>C	c.(928-930)aAc>aCc	p.N310T	SETD5_ENST00000406341.1_Missense_Mutation_p.N408T|SETD5_ENST00000407969.1_Missense_Mutation_p.N427T|SETD5_ENST00000302463.6_Missense_Mutation_p.N310T|SETD5_ENST00000402198.1_Missense_Mutation_p.N408T			Q9C0A6	SETD5_HUMAN	SET domain containing 5	408	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CACAAGGGAAACCGGAATTGT	0.438000													6	60					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132436998	132436998	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:132436998G>A	ENST00000370828.3	-	9	2092	c.1568C>T	c.(1567-1569)gCc>gTc	p.A523V	GPC4_ENST00000535467.1_Missense_Mutation_p.A453V	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	523					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TTTCTCATTGGCACTCTTCCC	0.527000													56	261					0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137211527	137211527	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:137211527G>T	ENST00000239926.4	+	3	740	c.366G>T	c.(364-366)caG>caT	p.Q122H	MYOT_ENST00000515645.1_Missense_Mutation_p.Q7H|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000509812.1_3'UTR|MYOT_ENST00000421631.2_5'UTR	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	122	Necessary for interaction with ACTN1.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTATCAACAGTCCTCAGCTG	0.363000													19	54					2.94398e-08	4.86397e-08	1	1	0
SNAP91	9892	broad.mit.edu	37	6	84366506	84366506	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:84366506C>T	ENST00000428679.2	-	7	1218	c.625G>A	c.(625-627)Gct>Act	p.A209T	SNAP91_ENST00000520213.1_Missense_Mutation_p.A209T|SNAP91_ENST00000369694.2_Missense_Mutation_p.A209T|SNAP91_ENST00000195649.6_Missense_Mutation_p.A209T|SNAP91_ENST00000437520.1_Missense_Mutation_p.A209T|SNAP91_ENST00000521485.1_Missense_Mutation_p.A209T|SNAP91_ENST00000439399.2_Missense_Mutation_p.A209T|SNAP91_ENST00000521743.1_Missense_Mutation_p.A209T|SNAP91_ENST00000520302.1_Missense_Mutation_p.A209T			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	209					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TTGTAGCAAGCAAAAAGTTTG	0.358000													3	14					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246784846	246784846	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:246784846G>T	ENST00000366513.4	+	3	764	c.495G>T	c.(493-495)gcG>gcT	p.A165A	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Silent_p.A165A	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	165					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AGCCAGAGGCGCCAAAGCTTG	0.438000													35	116					4.65686e-17	9.49546e-17	1	1	0
CACNB2	783	broad.mit.edu	37	10	18816542	18816542	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:18816542G>A	ENST00000396576.2	+	9	1306	c.805G>A	c.(805-807)Gac>Aac	p.D269N	CACNB2_ENST00000352115.6_Missense_Mutation_p.D300N|CACNB2_ENST00000377331.2_Missense_Mutation_p.D272N|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000324631.7_Missense_Mutation_p.D324N|CACNB2_ENST00000377319.3_Missense_Mutation_p.D231N|CACNB2_ENST00000377329.4_Missense_Mutation_p.D270N|CACNB2_ENST00000377315.4_Missense_Mutation_p.D276N|CACNB2_ENST00000282343.8_Missense_Mutation_p.D296N	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	324					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGTCACCGCTGACATCTCGCT	0.438000													5	65					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154465	22154465	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:22154465G>T	ENST00000397126.4	-	4	3519	c.3371C>A	c.(3370-3372)aCg>aAg	p.T1124K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GATTGAGAACGTACTAAAGCT	0.393000													10	72					0.335167	0.340876	1	1	0
RBBP6	5930	broad.mit.edu	37	16	24564864	24564864	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr16:24564864G>T	ENST00000319715.4	+	4	766	c.334G>T	c.(334-336)Gcc>Tcc	p.A112S	RBBP6_ENST00000348022.2_Missense_Mutation_p.A112S|RBBP6_ENST00000381039.3_Missense_Mutation_p.A112S	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	112					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TATTTCTCTGGCCCAGCTTAC	0.313000													5	74					3.59834e-05	4.67113e-05	1	1	0
NKRF	55922	broad.mit.edu	37	X	118723886	118723886	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:118723886T>C	ENST00000371527.1	-	2	2154	c.1502A>G	c.(1501-1503)tAt>tGt	p.Y501C	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.Y501C|NKRF_ENST00000542113.1_Missense_Mutation_p.Y516C	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	501					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGCAGCTTCATATTTGACAGT	0.418000													40	178					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	47					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52054069	52054069	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr6:52054069G>T	ENST00000340057.1	+	3	492	c.447G>T	c.(445-447)ccG>ccT	p.P149P		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	149					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.P149P(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					GTGTCACCCCGATTGTCCACC	0.607000													6	37					0.00116845	0.0013492	1	1	0
TMEM8A	58986	broad.mit.edu	37	16	422062	422062	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr16:422062C>A	ENST00000431232.2	-	13	2401	c.2241G>T	c.(2239-2241)tgG>tgT	p.W747C	TMEM8A_ENST00000250930.3_Missense_Mutation_p.W554C	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	747					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GCGAGCAGGCCCAGGGCTCGG	0.622000													18	50					1.67942e-08	2.80798e-08	1	1	0
MSH3	4437	broad.mit.edu	37	5	80109434	80109434	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:80109434G>T	ENST00000265081.6	+	20	2767	c.2687G>T	c.(2686-2688)gGa>gTa	p.G896V		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	896					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATAATTACCGGACCAAACATG	0.373000								Mismatch excision repair (MMR)					5	71					0.184627	0.191025	1	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900432	151900432	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:151900432C>G	ENST00000393900.3	-	3	722	c.369G>C	c.(367-369)aaG>aaC	p.K123N	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.K123N|MAGEA12_ENST00000393869.3_Missense_Mutation_p.K123N	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	123	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTCGATACTTGAGGAGCA	0.498000													11	205					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328700	23328700	+	Missense_Mutation	SNP	A	A	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:23328700A>C	ENST00000597761.2	+	4	1053	c.854A>C	c.(853-855)aAa>aCa	p.K285T		NM_001277403.1	NP_001264332.1			zinc finger protein 730											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						AAACCCTATAAATGTGAAGAA	0.358000													4	30					0	0	1	0	0
HDHD1	8226	broad.mit.edu	37	X	7023769	7023769	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:7023769C>A	ENST00000381077.5	-	2	248	c.172G>T	c.(172-174)Gca>Tca	p.A58S	HDHD1_ENST00000540122.1_Missense_Mutation_p.A58S|HDHD1_ENST00000498474.2_5'UTR|HDHD1_ENST00000424830.2_Missense_Mutation_p.A81S|HDHD1_ENST00000412827.2_Intron	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	58					nucleotide metabolic process		metal ion binding|phosphatase activity			breast(2)|large_intestine(1)|lung(3)	6						ATAATCTGTGCCGCCTCTAAT	0.463000													7	18					0.00198382	0.00224725	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23526494	23526494	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:23526494G>T	ENST00000296682.3	+	11	1479	c.1297G>T	c.(1297-1299)Ggg>Tgg	p.G433W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	433					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCCTGCCCAGGGGATCAGAA	0.448000										HNSCC(3;0.000094)			6	63					5.9392e-07	8.9624e-07	1	1	0
ACY1	95	broad.mit.edu	37	3	52022570	52022570	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr3:52022570G>A	ENST00000458031.2	+	15	1453	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	ACY1_ENST00000494103.1_Missense_Mutation_p.D246N|ACY1_ENST00000476351.1_Missense_Mutation_p.D283N|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.D419N|ACY1_ENST00000404366.2_Missense_Mutation_p.D318N|ACY1_ENST00000476854.1_Missense_Mutation_p.D253N			Q03154	ACY1_HUMAN	aminoacylase 1	318					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GACACCTACTGATGACTCAAA	0.572000													7	51					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11384979	11384979	+	Silent	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:11384979G>C	ENST00000304623.8	-	7	1164	c.975C>G	c.(973-975)ggC>ggG	p.G325G	CTNND2_ENST00000511377.1_Silent_p.G234G|CTNND2_ENST00000458100.2_Intron|CTNND2_ENST00000503622.1_Intron|CTNND2_ENST00000359640.2_Silent_p.G325G	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	325					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCGGGGACAGGCCGGCCGAGG	0.706000													3	10					0	0	1	0	0
ELK4	2005	broad.mit.edu	37	1	205589774	205589774	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:205589774T>C	ENST00000357992.4	-	3	739	c.400A>G	c.(400-402)Aag>Gag	p.K134E	ELK4_ENST00000468523.1_5'UTR|ELK4_ENST00000289703.4_Missense_Mutation_p.K134E	NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CTAGAGGTCTTGGCACCAGGC	0.413000			T	SLC45A3	prostate								5	55					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22035700	22035700	+	Splice_Site	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:22035700C>A	ENST00000261200.4	-	14	2018	c.2019_splice	c.e14+1	p.K673_splice	ABCC9_ENST00000261201.4_Splice_Site_p.K673_splice|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Intron	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	673	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAAAATAACCTTTATTGCAA	0.373000													5	73					1.23904e-05	1.68703e-05	1	1	0
AKNA	80709	broad.mit.edu	37	9	117106038	117106038	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr9:117106038T>C	ENST00000307564.4	-	19	3868	c.3707A>G	c.(3706-3708)aAt>aGt	p.N1236S	AKNA_ENST00000374079.4_Missense_Mutation_p.N181S|AKNA_ENST00000223791.3_Missense_Mutation_p.N696S|AKNA_ENST00000374075.5_Missense_Mutation_p.N1155S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Missense_Mutation_p.N1236S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GACTGTGCCATTGCCTTTTGG	0.562000													7	52					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098218	144098218	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:144098218G>T	ENST00000467773.1	-	4	764	c.765C>A	c.(763-765)aaC>aaA	p.N255K	NOBOX_ENST00000223140.5_Missense_Mutation_p.N170K|NOBOX_ENST00000483238.1_Missense_Mutation_p.N255K	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	255					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTCTGTTTTGGTTGCTCTGCG	0.582000													7	22					0.0293803	0.03117	1	1	0
SELP	6403	broad.mit.edu	37	1	169582859	169582859	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:169582859C>T	ENST00000263686.6	-	4	591	c.554G>A	c.(553-555)tGt>tAt	p.C185Y	SELP_ENST00000458599.2_Missense_Mutation_p.C185Y|SELP_ENST00000367794.2_Missense_Mutation_p.C185Y|SELP_ENST00000367793.2_Missense_Mutation_p.C185Y|SELP_ENST00000367792.2_Missense_Mutation_p.C185Y|SELP_ENST00000367786.2_Missense_Mutation_p.C185Y|SELP_ENST00000367788.2_Missense_Mutation_p.C185Y|SELP_ENST00000367791.2_Missense_Mutation_p.C185Y	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	185	EGF-like.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCCAGGGTAACAGGAGCAGGT	0.458000													5	63					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48741850	48741850	+	Silent	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:48741850C>G	ENST00000544117.2	-	2	774	c.66G>C	c.(64-66)gcG>gcC	p.A22A	ZNF641_ENST00000301042.3_Silent_p.A22A|ZNF641_ENST00000547026.1_Silent_p.A8A|ZNF641_ENST00000448928.3_Silent_p.A8A			Q96N77	ZN641_HUMAN	zinc finger protein 641	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CTGTCCCCAGCGCTGCTGTCT	0.502000													16	63					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579274	33579274	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:33579274G>A	ENST00000228567.3	-	2	604	c.308C>T	c.(307-309)gCt>gTt	p.A103V	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	103						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.A103G(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTCAGTAGGAGCACTTGAAAT	0.413000													6	62					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44272448	44272448	+	Silent	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:44272448G>A	ENST00000395749.2	-	16	1225	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	CAMK2B_ENST00000347193.4_Silent_p.V359V|CAMK2B_ENST00000258682.6_Silent_p.V358V|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000350811.3_Silent_p.V383V|CAMK2B_ENST00000395747.2_Silent_p.V359V|CAMK2B_ENST00000457475.1_Silent_p.V359V|CAMK2B_ENST00000502837.2_Silent_p.V254V|CAMK2B_ENST00000440254.2_Silent_p.V383V|CAMK2B_ENST00000346990.4_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	383					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGTTATGGATGACGGTGGTTT	0.582000													6	37					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930353	121930353	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr9:121930353C>A	ENST00000265922.3	-	8	1756	c.1295G>T	c.(1294-1296)gGg>gTg	p.G432V	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		432					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCTGTTGTTCCCGCCTATCAC	0.627000													7	23					2.0095e-06	2.92672e-06	1	1	0
G6PC	2538	broad.mit.edu	37	17	41063323	41063323	+	Silent	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:41063323C>A	ENST00000253801.2	+	5	1033	c.954C>A	c.(952-954)gtC>gtA	p.V318V	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	318					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CATCCCAAGTCGAGCTGGTCT	0.592000													10	203					0.000673444	0.000786312	1	1	0
MAGT1	84061	broad.mit.edu	37	X	77126340	77126340	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:77126340C>T	ENST00000358075.6	-	3	537	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	MAGT1_ENST00000373336.3_Missense_Mutation_p.V119M	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	119					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TCAAAATCCACCATGGCAAAA	0.373000													14	103					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78217004	78217004	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:78217004G>T	ENST00000171757.2	+	4	1267	c.987G>T	c.(985-987)atG>atT	p.M329I	P2RY10_ENST00000544091.1_Missense_Mutation_p.M329I	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	329						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCCGCCTCATGAGCAAGGAGA	0.433000													27	138					1.42536e-11	2.60174e-11	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14142987	14142987	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:14142987G>T	ENST00000376048.5	+	7	703	c.577G>T	c.(577-579)Gga>Tga	p.G193*	PRDM2_ENST00000235372.7_Missense_Mutation_p.R1701M|PRDM2_ENST00000503842.1_Nonsense_Mutation_p.G29*|PRDM2_ENST00000505823.1_Nonsense_Mutation_p.G29*	NM_001135610.1	NP_001129082.1	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1523						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGGCAGTATAGGAAGGTCAAA	0.572000													4	48					0.00024832	0.000305288	1	1	0
FBN2	2201	broad.mit.edu	37	5	127863648	127863648	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:127863648C>A	ENST00000508053.1	-	10	1423	c.449G>T	c.(448-450)aGt>aTt	p.S150I	FBN2_ENST00000262464.4_Missense_Mutation_p.S150I|FBN2_ENST00000508989.1_Missense_Mutation_p.S117I			P35556	FBN2_HUMAN	fibrillin 2	150	EGF-like 2.				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)		GCATCTCACACTGCACTGCTG	0.368000													8	33					0.000442599	0.000531628	1	1	0
ARMCX3	51566	broad.mit.edu	37	X	100880276	100880276	+	Silent	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:100880276C>A	ENST00000341189.4	+	5	1173	c.307C>A	c.(307-309)Cgg>Agg	p.R103R	ARMCX3_ENST00000471229.2_Silent_p.R103R|ARMCX3_ENST00000537169.1_Silent_p.R103R	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3	103						integral to membrane	binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCGGGCACGTCGGGCTGTCCA	0.552000													18	87					0.000566183	0.000678122	1	1	0
DZIP1L	199221	broad.mit.edu	37	3	137807237	137807237	+	Missense_Mutation	SNP	T	T	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr3:137807237T>C	ENST00000327532.2	-	6	1345	c.983A>G	c.(982-984)gAg>gGg	p.E328G	DZIP1L_ENST00000488595.1_5'UTR|DZIP1L_ENST00000469243.1_Missense_Mutation_p.E328G	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	328						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TTCTGTCTTCTCTCTCAGGGC	0.512000													9	22					0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177930729	177930729	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:177930729C>A	ENST00000308284.6	-	6	872	c.783G>T	c.(781-783)caG>caT	p.Q261H	RP4-798P15.3_ENST00000354921.2_5'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.Q261H|RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.Q261H	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	261					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACCCACCAGCCTGAACTGGAC	0.522000													5	38					1.06961e-07	1.70648e-07	1	1	0
HEATR4	399671	broad.mit.edu	37	14	73959804	73959804	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr14:73959804G>C	ENST00000553558.1	-	17	3131	c.2810C>G	c.(2809-2811)cCt>cGt	p.P937R	HEATR4_ENST00000560393.1_Missense_Mutation_p.P890R|HEATR4_ENST00000334988.2_Missense_Mutation_p.P937R|C14orf169_ENST00000531973.1_RNA	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AACCTCGGAAGGTCTTCTAGG	0.388000													20	82					0	0	1	0	0
CDK16	5127	broad.mit.edu	37	X	47087980	47087980	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:47087980G>T	ENST00000457458.2	+	15	1828	c.1408G>T	c.(1408-1410)Gca>Tca	p.A470S	CDK16_ENST00000357227.4_Missense_Mutation_p.A464S|CDK16_ENST00000276052.6_Missense_Mutation_p.A538S|CDK16_ENST00000518022.1_Missense_Mutation_p.A464S	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	464							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						TTCCATATTTGCACTAAAGGA	0.527000													18	66					6.94344e-10	1.21948e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179398165	179398165	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:179398165T>A	ENST00000589042.1	-	358	103401	c.103177A>T	c.(103177-103179)Aca>Tca	p.T34393S	TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25328S|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25520S|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T32752S|TTN_ENST00000359218.5_Missense_Mutation_p.T25453S|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31825S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32752							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)			CATTTTAATGTTGGTGGGGGG	0.463000													15	49					0	0	1	0	0
IL9R	3581	broad.mit.edu	37	X	155235138	155235138	+	Nonsense_Mutation	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:155235138A>T	ENST00000424344.3	+	7	1079	c.712A>T	c.(712-714)Aga>Tga	p.R238*	IL9R_ENST00000540897.1_Nonsense_Mutation_p.R284*|IL9R_ENST00000244174.5_Nonsense_Mutation_p.R259*|IL9R_ENST00000369423.2_Nonsense_Mutation_p.R294*			Q01113	IL9R_HUMAN	interleukin 9 receptor	259	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGCTCCCCAGAGACAAGGTGG	0.612000													3	27					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36046601	36046601	+	Silent	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr13:36046601C>G	ENST00000540320.1	+	41	7047	c.6513C>G	c.(6511-6513)ctC>ctG	p.L2171L	NBEA_ENST00000310336.4_Silent_p.L2171L|NBEA_ENST00000400445.3_Silent_p.L2171L|NBEA_ENST00000379939.2_Silent_p.L2168L			Q8NFP9	NBEA_HUMAN	neurobeachin	2171						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGGGGACTCTCTCCATCACCA	0.547000													5	24					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5282815	5282815	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:5282815C>A	ENST00000546004.1	-	3	1272	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N	PROKR2_ENST00000217270.3_Missense_Mutation_p.K342N			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	342						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TCTTGAAGTACTTCATGGTGT	0.562000										HNSCC(71;0.22)			32	99					2.08457e-15	4.11014e-15	1	1	0
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:7578550G>A	ENST00000420246.2	-	5	512	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGGGCAGGGGAGTACTGTAG	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			9	21					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682749	31682749	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:31682749G>T	ENST00000319386.3	+	11	2314	c.1321G>T	c.(1321-1323)Gtg>Ttg	p.V441L	CCDC129_ENST00000409210.1_Missense_Mutation_p.V497L|CCDC129_ENST00000407970.3_Missense_Mutation_p.V589L|CCDC129_ENST00000451887.2_Missense_Mutation_p.V615L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	589										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGCTGGCAAAGTGCAAAGCCA	0.488000													31	147					4.3181e-19	8.89146e-19	1	1	0
AMFR	267	broad.mit.edu	37	16	56439145	56439145	+	Silent	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr16:56439145C>A	ENST00000290649.5	-	5	888	c.678G>T	c.(676-678)gtG>gtT	p.V226V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	226					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCCTCACTGTCACAAGAAGAG	0.363000													6	47					5.9392e-07	8.9624e-07	1	1	0
PDE1C	5137	broad.mit.edu	37	7	31904609	31904609	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:31904609C>A	ENST00000396184.3	-	8	901	c.697G>T	c.(697-699)Gct>Tct	p.A233S	PDE1C_ENST00000396182.2_Missense_Mutation_p.A233S|PDE1C_ENST00000396191.1_Missense_Mutation_p.A233S|PDE1C_ENST00000396193.1_Missense_Mutation_p.A293S|PDE1C_ENST00000321453.7_Missense_Mutation_p.A233S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	233	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			ACATCGGCAGCGTGCATTAAG	0.463000													12	80					5.16669e-11	9.30894e-11	1	1	0
SSPO	23145	broad.mit.edu	37	7	149526084	149526084	+	RNA	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:149526084G>A	ENST00000378016.2	+	0	15141							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGAGGCTCCGGGTATGGAGG	0.652000													4	7					0	0	1	0	0
FCRLA	84824	broad.mit.edu	37	1	161681159	161681159	+	Missense_Mutation	SNP	G	G	T	rs142089406		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:161681159G>T	ENST00000540926.1	+	4	705	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L	FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000349527.4_Missense_Mutation_p.V132L|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000236938.6_Missense_Mutation_p.V149L|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.V138L|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.V155L			Q7L513	FCRLA_HUMAN	Fc receptor-like A	132	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTCCATCACCGTGGTACAAAA	0.587000													14	28					3.27435e-08	5.36737e-08	1	1	0
ZC4H2	55906	broad.mit.edu	37	X	64138939	64138939	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:64138939G>T	ENST00000545618.1	-	5	1092	c.529C>A	c.(529-531)Cag>Aag	p.Q177K	ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Missense_Mutation_p.Q182K|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Missense_Mutation_p.Q159K			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	182							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GGTGGGGGCTGCTGCCTGAAG	0.612000													7	86					5.18039e-06	7.26646e-06	1	1	0
NALCN	259232	broad.mit.edu	37	13	101712311	101712311	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr13:101712311C>G	ENST00000251127.6	-	42	4845	c.4764G>C	c.(4762-4764)caG>caC	p.Q1588H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1588						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)					TGCACGACTGCTGCTGTTTCT	0.532000													6	48					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19747251	19747251	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:19747251C>A	ENST00000507958.1	-	6	1313	c.323G>T	c.(322-324)gGt>gTt	p.G108V	CDH18_ENST00000382275.1_Missense_Mutation_p.G108V|CDH18_ENST00000274170.4_Missense_Mutation_p.G108V|CDH18_ENST00000511273.1_Missense_Mutation_p.G108V|CDH18_ENST00000506372.1_Missense_Mutation_p.G108V|CDH18_ENST00000502796.1_Missense_Mutation_p.G108V			Q13634	CAD18_HUMAN	cadherin 18, type 2	108	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GTGGATATCACCCGTGGTATC	0.448000													28	84					1.42536e-11	2.60174e-11	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48349569	48349569	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:48349569C>T	ENST00000435803.1	+	24	9371	c.9347C>T	c.(9346-9348)gCt>gTt	p.A3116V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3116					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTCACCGTAGCTCTGTCTGGA	0.498000													7	78					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237754186	237754186	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:237754186G>T	ENST00000366574.2	+	31	4371	c.4054G>T	c.(4054-4056)Ggc>Tgc	p.G1352C	RYR2_ENST00000360064.6_Missense_Mutation_p.G1350C|RYR2_ENST00000542537.1_Missense_Mutation_p.G1336C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1352	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACAGCTCATGGCCATCTAGT	0.483000													18	44					7.05477e-17	1.41774e-16	1	1	0
ALDH1L2	160428	broad.mit.edu	37	12	105420500	105420500	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:105420500G>C	ENST00000258494.9	-	22	2679	c.2539C>G	c.(2539-2541)Cga>Gga	p.R847G	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	847	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTATTTGCTCGCTGCAACACT	0.368000													9	196					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28502359	28502359	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:28502359G>A	ENST00000261609.7	-	17	2473	c.2365C>T	c.(2365-2367)Cct>Tct	p.P789S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	789					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCACAAAAGGGACACGGAGG	0.532000													6	44					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68609660	68609660	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:68609660C>T	ENST00000423218.2	-	21	2753	c.2658G>A	c.(2656-2658)agG>agA	p.R886R	ITGA11_ENST00000315757.7_Silent_p.R886R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	886					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	TCTGGAGCCTCCTCTCCTCGT	0.602000													4	54					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40704819	40704819	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:40704819T>A	ENST00000372771.4	+	8	4472	c.4445T>A	c.(4444-4446)gTa>gAa	p.V1482E		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1482					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGCCAGAAAGTAGCAAATGAG	0.393000													6	57					0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718878	2718878	+	Missense_Mutation	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr9:2718878G>A	ENST00000382082.3	+	1	1377	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	380						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CGCGTCATGCGCCTCATGCGC	0.667000													14	33					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51220041	51220041	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:51220041C>A	ENST00000293441.1	-	1	154	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W	SHANK1_ENST00000391814.1_Missense_Mutation_p.G46W|SHANK1_ENST00000359082.3_Missense_Mutation_p.G46W	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	46					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCAGGTGCCCCACTGCCCTGG	0.682000													6	22					0.27861	0.284741	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113697925	113697925	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:113697925G>T	ENST00000297405.5	-	15	2436	c.2192C>A	c.(2191-2193)aCa>aAa	p.T731K	CSMD3_ENST00000352409.3_Missense_Mutation_p.T731K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T691K|CSMD3_ENST00000455883.2_Missense_Mutation_p.T627K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	731	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAAAGAACTGTTCCCATTGG	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			19	81					2.4624e-09	4.23573e-09	1	1	0
TENM1	10178	broad.mit.edu	37	X	123805641	123805641	+	Missense_Mutation	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:123805641C>T	ENST00000422452.2	-	6	1123	c.1060G>A	c.(1060-1062)Gga>Aga	p.G354R	TENM1_ENST00000371130.3_Missense_Mutation_p.G354R	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TACAGCTCTCCTTCAACTGGT	0.448000													30	136					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425995	179425995	+	Silent	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:179425995A>T	ENST00000589042.1	-	326	85088	c.84864T>A	c.(84862-84864)atT>atA	p.I28288I	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.I19223I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Silent_p.I19415I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I26647I|TTN_ENST00000359218.5_Silent_p.I19348I|TTN_ENST00000342992.6_Silent_p.I25720I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26647							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)			TGCGTTCAACAATGTATCCTG	0.393000													5	66					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121742294	121742294	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:121742294G>C	ENST00000452319.1	+	12	1991	c.1931G>C	c.(1930-1932)aGa>aCa	p.R644T	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_Missense_Mutation_p.R316T|GLI2_ENST00000361492.4_Missense_Mutation_p.R644T			P10070	GLI2_HUMAN	GLI family zinc finger 2	644					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CTGCACGTCAGAGCCATCAAG	0.682000													7	28					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26695106	26695106	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr22:26695106A>G	ENST00000529632.2	+	5	1515	c.1319A>G	c.(1318-1320)cAc>cGc	p.H440R	SEZ6L_ENST00000402979.1_Missense_Mutation_p.H213R|SEZ6L_ENST00000248933.6_Missense_Mutation_p.H440R|SEZ6L_ENST00000404234.3_Missense_Mutation_p.H440R|SEZ6L_ENST00000403121.1_Missense_Mutation_p.H213R|SEZ6L_ENST00000343706.4_Missense_Mutation_p.H440R|SEZ6L_ENST00000360929.3_Missense_Mutation_p.H440R	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	440	Sushi 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCCAAGCCGCACTGGAGCAGC	0.587000													10	11					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1670167	1670167	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:1670167C>T	ENST00000252804.4	-	10	1160	c.1110G>A	c.(1108-1110)ccG>ccA	p.P370P	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	370	Ig-like C2-type 2.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AGATCCGCGGCGGGGGGTGGC	0.607000													4	30					0	0	1	0	0
LAX1	54900	broad.mit.edu	37	1	203743032	203743032	+	Silent	SNP	G	G	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:203743032G>A	ENST00000442561.2	+	5	810	c.420G>A	c.(418-420)gaG>gaA	p.E140E	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Silent_p.E124E	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	140					B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding			central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTTCCAGGAGCATACAGCCC	0.527000													9	39					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157182363	157182363	+	Missense_Mutation	SNP	T	T	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:157182363T>A	ENST00000339562.4	-	8	2052	c.1690A>T	c.(1690-1692)Acc>Tcc	p.T564S	NR4A2_ENST00000539077.1_Missense_Mutation_p.T575S|NR4A2_ENST00000426264.1_Missense_Mutation_p.T501S|NR4A2_ENST00000409572.1_Missense_Mutation_p.T564S|NR4A2_ENST00000429376.1_Missense_Mutation_p.Y466F|NR4A2_ENST00000409108.2_Missense_Mutation_p.Y529F	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	564					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GTGCAAAGGGTACGAAGTTCT	0.468000													18	74					0	0	1	0	0
OGFOD2	79676	broad.mit.edu	37	12	123463485	123463485	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:123463485C>T	ENST00000397389.2	+	7	1276	c.537C>T	c.(535-537)gcC>gcT	p.A179A	ABCB9_ENST00000542678.1_5'UTR|OGFOD2_ENST00000228922.7_Silent_p.A239A|OGFOD2_ENST00000542117.1_3'UTR|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000538755.1_Silent_p.A75A|OGFOD2_ENST00000536150.1_Silent_p.A75A|OGFOD2_ENST00000454694.2_Silent_p.A75A|OGFOD2_ENST00000545612.1_Silent_p.A75A|OGFOD2_ENST00000545317.1_Silent_p.A75A|OGFOD2_ENST00000538628.1_Silent_p.A75A	NM_024623.1	NP_078899.1	Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	239							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	ATGATAATGCCGAGCTCACCC	0.642000													12	34					0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	1009688	1009688	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:1009688G>T	ENST00000537687.1	+	26	7918	c.7275G>T	c.(7273-7275)caG>caT	p.Q2425H	WNK1_ENST00000535572.1_Missense_Mutation_p.Q1917H|WNK1_ENST00000530271.2_Missense_Mutation_p.Q2663H|WNK1_ENST00000315939.6_Missense_Mutation_p.Q2165H|WNK1_ENST00000340908.4_Missense_Mutation_p.Q1758H	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2165					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACCCCCAGCAGACCCTCCACC	0.542000													20	154					1.01871e-10	1.81975e-10	1	1	0
ARHGAP9	64333	broad.mit.edu	37	12	57866468	57866468	+	Nonstop_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:57866468C>A	ENST00000424809.2	-	16	2147	c.1922G>T	c.(1921-1923)tGa>tTa	p.*641L	ARHGAP9_ENST00000393791.3_Silent_p.V676V|ARHGAP9_ENST00000393797.2_Silent_p.V766V|ARHGAP9_ENST00000430041.2_Silent_p.V492V|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Silent_p.V695V	NM_001080157.1	NP_001073626.1	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	0	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AGTGTGCTATCACCCTGTAAG	0.498000													11	33					3.07112e-06	4.41143e-06	1	1	0
OR5H6	79295	broad.mit.edu	37	3	97983296	97983296	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr3:97983296G>T	ENST00000383696.2	+	1	209	c.168G>T	c.(166-168)atG>atT	p.M56I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCACCATCATGGGGAATCTTG	0.408000													44	240					9.14704e-12	1.68435e-11	1	1	0
ALG10	84920	broad.mit.edu	37	12	34179118	34179118	+	Silent	SNP	C	C	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr12:34179118C>T	ENST00000266483.2	+	3	1009	c.690C>T	c.(688-690)ttC>ttT	p.F230F	ALG10_ENST00000538927.1_Intron|RP11-847H18.2_ENST00000501954.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	230					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TTGCAGAATTCAGAAAAATTC	0.388000													21	177					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17126432	17126432	+	Silent	SNP	C	C	A	rs112672544	byFrequency	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:17126432C>A	ENST00000377833.4	-	17	2204	c.2139G>T	c.(2137-2139)acG>acT	p.T713T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	713	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTCTGGGTCCGTGTAGTTCC	0.517000													4	26					0.00909568	0.00987531	1	1	0
RYR3	6263	broad.mit.edu	37	15	33988555	33988555	+	Silent	SNP	G	G	A	rs142550033	by1000genomes	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:33988555G>A	ENST00000389232.4	+	39	6067	c.5997G>A	c.(5995-5997)gcG>gcA	p.A1999A	RYR3_ENST00000415757.3_Silent_p.A1999A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1999	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.A1999A(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCTGCAGGCGCTGCGGAAGA	0.602000													12	66					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671780	45671780	+	Missense_Mutation	SNP	G	G	C			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:45671780G>C	ENST00000308064.2	-	4	1364	c.694C>G	c.(694-696)Ctg>Gtg	p.L232V		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	232					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)		TCTCGGACCAGCTGGATGACC	0.667000													9	57					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675802	21675802	+	Silent	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:21675802G>T	ENST00000379499.2	-	1	646	c.105C>A	c.(103-105)acC>acA	p.T35T		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	35	BTB.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGCTGCCCTCGGTCTCCAGTG	0.657000													3	17					1	1	1	1	0
MGAM	8972	broad.mit.edu	37	7	141752783	141752783	+	Splice_Site	SNP	A	A	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:141752783A>T	ENST00000475668.2	+	26	3212	c.3159_splice	c.e26+1	p.K1053_splice	MGAM_ENST00000549489.2_Splice_Site_p.K1053_splice			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1053					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CTGCAGTTCAAGGTAAACACA	0.428000													21	30					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112058632	112058632	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:112058632C>A	ENST00000371959.3	-	2	1345	c.1346G>T	c.(1345-1347)aGg>aTg	p.R449M	AMOT_ENST00000371958.1_Missense_Mutation_p.R217M|AMOT_ENST00000371962.1_Missense_Mutation_p.R217M|AMOT_ENST00000304758.1_Missense_Mutation_p.R40M|AMOT_ENST00000524145.1_Missense_Mutation_p.R449M	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	449					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CAACTCTTGCCTCAAGTTCCG	0.488000													43	241					7.05121e-23	1.48111e-22	1	1	0
STK11	6794	broad.mit.edu	37	19	1207162	1207162	+	Nonsense_Mutation	SNP	A	A	T	rs137853076		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:1207162A>T	ENST00000326873.7	+	1	1423	c.250A>T	c.(250-252)Aag>Tag	p.K84*	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	84	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGAAGAAGAAGTTGCGAAG	0.617000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			3	18					0	0	1	0	0
IPMK	253430	broad.mit.edu	37	10	59955929	59955929	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr10:59955929C>G	ENST00000373935.3	-	6	1481	c.1159G>C	c.(1159-1161)Gct>Cct	p.A387P		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	387						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AACACATGAGCAAAATCTATC	0.368000													28	149					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3405445	3405445	+	RNA	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr11:3405445C>A	ENST00000529482.1	+	0	218																											GTCCCATGACCAGGGCCAGAT	0.547000													4	5					0.00909568	0.00987531	1	1	0
AMELX	265	broad.mit.edu	37	X	11316773	11316773	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:11316773C>A	ENST00000380712.3	+	6	360	c.292C>A	c.(292-294)Cac>Aac	p.H98N	ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.H84N|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.H68N|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	84					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GCCTCATCACCACATCCCAGT	0.602000													19	142					2.94398e-08	4.86397e-08	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140236912	140236912	+	Missense_Mutation	SNP	C	C	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:140236912C>G	ENST00000307360.5	+	1	1279	c.1279C>G	c.(1279-1281)Cgg>Ggg	p.R427G	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R427G|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGACCGCGCGGGACGGGGG	0.647000													22	168					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287667	16287667	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr22:16287667C>A	ENST00000343518.6	-	1	270	c.219G>T	c.(217-219)agG>agT	p.R73S		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	73								p.R73R(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGCCGCTCCCCCTGCACCAGG	0.577000													26	678					1.08312e-15	2.15592e-15	1	1	0
LSM11	134353	broad.mit.edu	37	5	157182271	157182271	+	Nonstop_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:157182271G>T	ENST00000286307.5	+	4	1138	c.1082G>T	c.(1081-1083)tGa>tTa	p.*361L		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	0					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGCACAGTGACCAGCTCAG	0.438000													6	37					0.00116845	0.0013492	1	1	0
CCKAR	886	broad.mit.edu	37	4	26491794	26491794	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr4:26491794C>A	ENST00000295589.3	-	1	290	c.96G>T	c.(94-96)caG>caT	p.Q32H		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	32					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AAGGACGGGGCTGATCCAAGC	0.448000													4	14					2.56e-06	3.71556e-06	1	1	0
SYPL2	284612	broad.mit.edu	37	1	110020608	110020608	+	Missense_Mutation	SNP	A	A	G			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:110020608A>G	ENST00000369872.3	+	5	841	c.625A>G	c.(625-627)Atg>Gtg	p.M209V	SYPL2_ENST00000401021.3_Intron	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	209	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CACGCCCTCTATGGGCCTGGC	0.637000													6	29					0	0	1	0	0
RHCG	51458	broad.mit.edu	37	15	90020380	90020380	+	Missense_Mutation	SNP	C	C	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:90020380C>A	ENST00000268122.4	-	8	1238	c.1170G>T	c.(1168-1170)caG>caT	p.Q390H	RHCG_ENST00000544600.1_Missense_Mutation_p.Q390H	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	390					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					GGAACTTTCCCTGTGTTCTTG	0.582000													11	88					3.86212e-05	4.96728e-05	1	1	0
JAKMIP1	152789	broad.mit.edu	37	4	6082017	6082017	+	Missense_Mutation	SNP	G	G	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr4:6082017G>T	ENST00000409021.3	-	7	1573	c.1124C>A	c.(1123-1125)gCg>gAg	p.A375E	JAKMIP1_ENST00000282924.5_Missense_Mutation_p.A375E|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.A210E|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.A375E|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.A210E	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	375	Mediates interaction with TYK2 and GABBR1.		A -> V (in a colorectal cancer sample; somatic mutation).		protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.A375V(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTCAGAGACGCCTGCGCTGA	0.582000													6	32					3.09899e-07	4.76241e-07	1	1	0
ANKRD20A12P	100874392	broad.mit.edu	37	1	142720897	142720898	+	RNA	INS	-	-	A			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:142720897_142720898insA	ENST00000595144.1	-	0	204_205																											GCTCTTCCTCTAAGCCACTGGT	0.277													5	10	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176668542	176668543	+	Frame_Shift_Ins	INS	-	-	G	rs116668628	by1000genomes	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:176668542_176668543insG	ENST00000367662.3	+	8	4217_4218	c.3053_3054insG	c.(3052-3054)tggfs	p.W1018fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1018					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						GGGAAGGTGTCGGGGGTGAAAG	0.535													34	143	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			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						AATTTGCCAAAGAGAGAGAGAG	0.510													7	82	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54115932	54115932	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:54115932delC	ENST00000404125.1	-	38	4369	c.4314delG	c.(4312-4314)cgfs	p.R1438fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.R582fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1438					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTGAAGTTTCCGGGGATCTC	0.343													15	71	---	---	---	---					
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	RNA	DEL	G	G	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303													2	4	---	---	---	---					
LOC102724332	102724332	broad.mit.edu	37	2	89161623	89161632	+	RNA	DEL	CGTCTATGGC	CGTCTATGGC	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:89161623_89161632delCGTCTATGGC	ENST00000430694.1	-	0	523																											AATATATTTACGTCTATGGCCTGATGGTTC	0.362													2	4	---	---	---	---					
TRIP12	9320	broad.mit.edu	37	2	230683159	230683160	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr2:230683159_230683160delAT	ENST00000283943.5	-	8	1553_1554	c.1375_1376delAT	c.(1375-1377)tfs	p.I459fs	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Frame_Shift_Del_p.I162fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.I507fs	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	459					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ACACATCTCAATAACTGCCTGA	0.406													14	127	---	---	---	---					
GTF2H2B	653238	broad.mit.edu	37	5	69715976	69715977	+	RNA	INS	-	-	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr5:69715976_69715977insT	ENST00000513202.1	+	0	108					NR_033417.1																						CTGGCATTCCATTTTTTTTTAC	0.238													5	7	---	---	---	---					
C7orf31	136895	broad.mit.edu	37	7	25218801	25218808	+	Frame_Shift_Del	DEL	CTGAGGCA	CTGAGGCA	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:25218801_25218808delCTGAGGCA	ENST00000409280.1	-	2	428_435	c.120_127delTGCCTCAG	c.(118-129)acagfs	p.TASE40fs	C7orf31_ENST00000283905.3_Frame_Shift_Del_p.TASE40fs			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	40										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TACCTGTCCTCTGAGGCAGTTGGGCGAG	0.413													11	63	---	---	---	---					
ABCA13	154664	broad.mit.edu	37	7	48319395	48319396	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:48319395_48319396delAA	ENST00000435803.1	+	18	8628_8629	c.8604_8605delAA	c.(8602-8607)agccfs	p.RT2868fs		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2868					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAGAAGAGAGAACCAAGAAAGA	0.351													7	84	---	---	---	---					
VKORC1L1	154807	broad.mit.edu	37	7	65419353	65419354	+	In_Frame_Ins	INS	-	-	TTA	rs71982071		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:65419353_65419354insTTA	ENST00000434382.2	+	2	490_491	c.487_488insTTA	c.(487-489)tat>TTAtat	p.162_163insL	VKORC1L1_ENST00000360768.3_3'UTR			Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	0						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	GCAGCAGGTTTttattattatt	0.416													5	11	---	---	---	---					
AC005077.5	0	broad.mit.edu	37	7	75804673	75804673	+	RNA	DEL	A	A	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr7:75804673delA	ENST00000437494.1	+	0	57																											atctcgaaccaaaaaaaaaag	0.542													2	4	---	---	---	---					
TMEM66	51669	broad.mit.edu	37	8	29927535	29927535	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:29927535delC	ENST00000256255.6	-	3	580	c.323delG	c.(322-324)gafs	p.G108fs	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	108						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CACAGTTTTTCCAAATTTGTA	0.333													16	159	---	---	---	---					
SNORA25	684959	broad.mit.edu	37	8	140120744	140120744	+	RNA	DEL	C	C	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr8:140120744delC	ENST00000515935.1	+	0	72																											TTGAAGTCTTCCACAGGATGT	0.413													2	4	---	---	---	---					
KL	9365	broad.mit.edu	37	13	33590805	33590805	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr13:33590805delC	ENST00000380099.3	+	1	235	c.227delC	c.(226-228)acfs	p.T76fs	KL_ENST00000426690.2_Intron|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	76	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCTACCAGACCGAGGGCGGC	0.726													3	6	---	---	---	---					
ERCC5	2073	broad.mit.edu	37	13	103527950	103527951	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr13:103527950_103527951insT	ENST00000355739.4	+	15	4681_4682	c.3258_3259insT	c.(3256-3261)ggttttfs	p.GF1086fs	ERCC5_ENST00000472247.1_3'UTR|ERCC5_ENST00000375954.1_Frame_Shift_Ins_p.GF319fs	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CATGCGGTGGATTTTTGGGGGA	0.406			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				7	63	---	---	---	---					
YLPM1	56252	broad.mit.edu	37	14	75265301	75265302	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr14:75265301_75265302insT	ENST00000325680.7	+	5	3425_3426	c.3301_3302insT	c.(3301-3303)ggafs	p.G1101fs	YLPM1_ENST00000238571.3_Frame_Shift_Ins_p.G906fs|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	906	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCAAGGGAGCCAGGACAGGGGT	0.599													13	61	---	---	---	---					
ALDH1A3	220	broad.mit.edu	37	15	101425496	101425496	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr15:101425496delG	ENST00000329841.5	+	2	656	c.124delG	c.(124-126)aafs	p.E42fs	ALDH1A3_ENST00000346623.6_Frame_Shift_Del_p.E42fs|ALDH1A3_ENST00000560555.1_3'UTR	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	42					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	TGAATGGCACGAATCCAAGAG	0.343													7	46	---	---	---	---					
HOXB8	3218	broad.mit.edu	37	17	46690737	46690738	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr17:46690737_46690738insT	ENST00000239144.4	-	2	792_793	c.558_559insA	c.(556-561)acagagfs	p.E187fs	HOXB8_ENST00000576562.1_Frame_Shift_Ins_p.E186fs|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	187						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						ACCTGTCTCTCTGTCAGTCCCA	0.520													12	101	---	---	---	---					
DCC	1630	broad.mit.edu	37	18	51013282	51013282	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr18:51013282delC	ENST00000442544.2	+	26	4468	c.3852delC	c.(3850-3852)ttfs	p.F1284fs	DCC_ENST00000581580.1_Frame_Shift_Del_p.F919fs|RP11-671P2.1_ENST00000582064.1_RNA	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1284					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGTGCCATTCCCAACACTCT	0.512													10	118	---	---	---	---					
ZNF880	400713	broad.mit.edu	37	19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-	rs77187934		TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000600321.1_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													4	7	---	---	---	---					
FRG1B	284802	broad.mit.edu	37	20	29628226	29628226	+	Splice_Site	DEL	G	G	-	rs78710112	by1000genomes	TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:29628226delG	ENST00000278882.3	+	6	608		c.e6-1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTTCACTTAGGGGAAAATGG	0.358													10	178	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099258	56099258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chr20:56099258delC	ENST00000426658.2	-	1	665	c.4delG	c.(4-6)cafs	p.A3fs	CTCFL_ENST00000243914.3_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.A3fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.A3fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	3					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCAGTGGCTGCCATAATGACT	0.512													53	182	---	---	---	---					
MAGEC1	9947	broad.mit.edu	37	X	140993550	140993550	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-A479-01A-31D-A24D-08	TCGA-44-A479-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7f6750a-7c68-43c7-bb9e-73349bb5ca37	5e1368d7-e4e9-4de9-b0ec-e9af27c10172	g.chrX:140993550delG	ENST00000285879.4	+	4	646	c.360delG	c.(358-360)gafs	p.E120fs	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	120							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTCCTGAGGGTGAGGATG	0.522										HNSCC(15;0.026)			28	166	---	---	---	---					
