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
PLCH2	9651	broad.mit.edu	37	1	2411404	2411404	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:2411404G>A	uc001aji.1	+	2	777	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	168					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCGCCAGCGCACCAGGGAC	0.687												
NCDN	23154	broad.mit.edu	37	1	36028235	36028235	+	Splice_Site	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:36028235G>A	uc001bza.3	+	5	1512	c.1385_splice	c.e5+1	p.R462_splice	NCDN_uc001bzb.3_Splice_Site_p.R462_splice|NCDN_uc001bzc.3_Splice_Site_p.R445_splice	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	462					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACGCTCTCCGGTGAGTCTGTA	0.597												
KIAA0754	643314	broad.mit.edu	37	1	39876294	39876294	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:39876294G>A	uc009vvt.1	+	0	1119	c.357G>A	c.(355-357)cgG>cgA	p.R119R	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	0										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAAGGCGGCCAAATGCAG	0.478												
C1orf173	127254	broad.mit.edu	37	1	75108729	75108729	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:75108729C>A	uc001dgg.3	-	3	516	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	99								p.K98K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGGATTCGCTCCTTCCTAG	0.323												
ZZZ3	26009	broad.mit.edu	37	1	78098001	78098001	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:78098001G>A	uc001dhq.3	-	4	1515	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P347S|ZZZ3_uc001dhp.3_Missense_Mutation_p.P347S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P347S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCGGAGGCTGGCATACTCTCA	0.443												
ANKRD35	148741	broad.mit.edu	37	1	145558841	145558841	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:145558841C>T	uc001eob.1	+	6	568	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ANKRD35_uc010oyx.1_5'UTR	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	154								p.R154C(2)|p.G153G(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCAGGATGGACGTACACCCCT	0.557												
SPRR1A	6698	broad.mit.edu	37	1	152957774	152957774	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:152957774A>T	uc021ozn.1	+	0	68	c.68A>T	c.(67-69)cAa>cTa	p.Q23L	SPRR1A_uc009wnu.2_Missense_Mutation_p.Q23L|SPRR1A_uc001faw.3_Missense_Mutation_p.Q23L	NM_005987	NP_005978	P35321	SPR1A_HUMAN	Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA.	23	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGTGAAACAACCTTGCCAG	0.572												
C1orf116	79098	broad.mit.edu	37	1	207195575	207195575	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:207195575C>T	uc001hfd.2	-	3	1793	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S	C1orf116_uc009xcb.1_Missense_Mutation_p.G266S|C1orf116_uc021pii.1_Missense_Mutation_p.G266S	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	512						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGAAGGAGCCCTTTCCCAGA	0.567												
HIST3H3	8290	broad.mit.edu	37	1	228612678	228612678	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:228612678G>A	uc001hsx.1	-	0	349	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W		NM_003493	NP_003484	Q16695	H31T_HUMAN	Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.	117					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				ATGGTGACCCGTTTGGCATGG	0.627												
HIST3H2A	92815	broad.mit.edu	37	1	228645127	228645127	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:228645127C>T	uc001hsy.3	-	0	434	c.392G>A	c.(391-393)tGa>tAa	p.*131*	HIST3H2BB_uc001hsz.3_5'Flank	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN	Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA.	0					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				cgggcggccTCACTTGCCCTT	0.627												
OR2C3	81472	broad.mit.edu	37	1	247695195	247695195	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:247695195A>G	uc021pmb.1	-	0	619	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.F207L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGACAACAAAGACAAAGCTG	0.532												
IDE	3416	broad.mit.edu	37	10	94267958	94267958	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr10:94267958C>G	uc001kia.3	-	7	1141	c.1065G>C	c.(1063-1065)tgG>tgC	p.W355C		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	355					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGTATTAACCCAGCCTGCAA	0.358												
SLK	9748	broad.mit.edu	37	10	105762134	105762134	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr10:105762134C>A	uc001kxo.1	+	8	1232	c.1198C>A	c.(1198-1200)Cat>Aat	p.H400N	SLK_uc001kxp.1_Missense_Mutation_p.H400N	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	400	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TATTAATGAACATATTACCGA	0.388												
SIRT3	23410	broad.mit.edu	37	11	233173	233173	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:233173A>C	uc001lok.4	-	2	550	c.516T>G	c.(514-516)gaT>gaG	p.D172E	SIRT3_uc001loj.4_Missense_Mutation_p.D30E|SIRT3_uc010qvm.2_Missense_Mutation_p.D108E|SIRT3_uc010qvn.2_Missense_Mutation_p.D91E|SIRT3_uc010qvo.2_Missense_Mutation_p.D172E|SIRT3_uc010qvp.2_Missense_Mutation_p.D172E|SIRT3_uc010qvq.2_Missense_Mutation_p.D30E|SIRT3_uc009ybt.1_Non-coding_Transcript	NM_012239	NP_001017524	Q9NTG7	SIRT3_HUMAN	Homo sapiens sirtuin 3 (SIRT3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	172	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GGTACGGGAGATCGTACTGCT	0.532												
OR51M1	390059	broad.mit.edu	37	11	5411176	5411176	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:5411176C>G	uc010qzc.2	+	0	570	c.548C>G	c.(547-549)tCt>tGt	p.S183C	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	183						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTGTGGATCTGTGGTCCTC	0.517												
VWCE	220001	broad.mit.edu	37	11	61048379	61048379	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:61048379C>T	uc001nra.3	-	7	1395	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	372						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACTCAGGGCCCCTGGGTGAGG	0.677												
SCNN1A	6337	broad.mit.edu	37	12	6463925	6463925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:6463925G>T	uc001qnw.3	-	5	1674	c.1410C>A	c.(1408-1410)taC>taA	p.Y470*	SCNN1A_uc001qnv.3_Nonsense_Mutation_p.Y111*|SCNN1A_uc001qnx.3_Nonsense_Mutation_p.Y411*|SCNN1A_uc010sfb.2_Nonsense_Mutation_p.Y434*	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	411					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCTGCTGTGTGTACTTTGAAG	0.557												
CLEC1A	51267	broad.mit.edu	37	12	10224014	10224014	+	Missense_Mutation	SNP	C	C	T	rs147882348	by1000genomes	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:10224014C>T	uc001qxb.3	-	5	845	c.761G>A	c.(760-762)cGt>cAt	p.R254H	CLEC1A_uc001qxd.3_Missense_Mutation_p.R211H|CLEC1A_uc010sgx.2_Missense_Mutation_p.R152H	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	254	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						ACAGACACAACGCTTCAATTC	0.488												
KRT18	3875	broad.mit.edu	37	12	53343221	53343221	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:53343221C>T	uc001sbe.3	+	1	333	c.264C>T	c.(262-264)aaC>aaT	p.N88N	KRT18_uc009zmn.2_Silent_p.N88N|KRT18_uc001sbg.3_Silent_p.N88N|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	88	Coil 1A.|Interaction with TRADD.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAAGCCTGAACGACCGCCTGG	0.647												
PTPRR	5801	broad.mit.edu	37	12	71094985	71094985	+	Silent	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:71094985G>T	uc001swi.2	-	6	1540	c.1126C>A	c.(1126-1128)Cga>Aga	p.R376R	PTPRR_uc001swh.2_Silent_p.R131R|PTPRR_uc009zrs.3_Silent_p.R170R|PTPRR_uc010stq.2_Silent_p.R264R|PTPRR_uc010str.1_Silent_p.R225R	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	376					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTGAGAATTCGGCTGGCTGAC	0.458												
WSCD2	9671	broad.mit.edu	37	12	108600179	108600179	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:108600179C>T	uc001tms.3	+	3	1241	c.497_splice	c.e3+1	p.R166_splice	WSCD2_uc001tmt.3_Splice_Site_p.R166_splice	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	166	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGTGCTGAACGGTAGGGTCC	0.527												
TMEM132D	121256	broad.mit.edu	37	12	130184469	130184469	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:130184469C>T	uc009zyl.1	-	1	1182	c.854G>A	c.(853-855)cGt>cAt	p.R285H		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	285						integral to membrane		p.L284R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTTGTCCAGACGCAGTTCTCT	0.522												
FAM70B	348013	broad.mit.edu	37	13	114502323	114502323	+	Silent	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr13:114502323C>G	uc001vuh.3	+	4	381	c.354C>G	c.(352-354)ccC>ccG	p.P118P		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	118						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			AACCGAGGCCCCTCACCACGG	0.542												
OR11H6	122748	broad.mit.edu	37	14	20692418	20692418	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr14:20692418C>A	uc010tlc.2	+	0	550	c.550C>A	c.(550-552)Ctt>Att	p.L184I		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTCCCAACTTCCCTTCTG	0.507												
RPL10L	140801	broad.mit.edu	37	14	47120841	47120841	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr14:47120841delG	uc001wwg.3	-	0	188	c.99delC	c.(97-99)atcfs	p.I33fs		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	33					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.I33I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCAGGTCAAAGATGCGGATCT	0.537												
MAPKBP1	23005	broad.mit.edu	37	15	42106769	42106769	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:42106769G>A	uc001zok.4	+	10	1306	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	MAPKBP1_uc010bci.3_Silent_p.A334A|MAPKBP1_uc010udb.2_Silent_p.A222A|MAPKBP1_uc001zoj.4_Silent_p.A334A|MAPKBP1_uc010bcj.3_Intron|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Intron	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	340										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGGAGTGGCGAATGCCAGGT	0.488												
MAPKBP1	23005	broad.mit.edu	37	15	42111074	42111074	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:42111074G>A	uc001zok.4	+	20	2514	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	MAPKBP1_uc010bci.3_Missense_Mutation_p.R737H|MAPKBP1_uc010udb.2_Missense_Mutation_p.R576H|MAPKBP1_uc001zoj.4_Missense_Mutation_p.R737H|MAPKBP1_uc010bcj.3_Missense_Mutation_p.R244H|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.R244H	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	743								p.R737H(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATGAGGCAGCGTCTGGCCGAG	0.602												
ATP8B4	79895	broad.mit.edu	37	15	50339659	50339659	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:50339659A>T	uc001zxu.3	-	3	232	c.90T>A	c.(88-90)gaT>gaA	p.D30E	ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	30					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.D30D(2)|p.A29V(1)|p.A29A(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGATACGATTATCCTGGAAAA	0.373												
PTX4	390667	broad.mit.edu	37	16	1536134	1536134	+	Missense_Mutation	SNP	C	C	T	rs149572258		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:1536134C>T	uc010uvf.2	-	2	1228	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	415	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCGGAGCTGTCGAATCCGCCC	0.652												
SRRM2	23524	broad.mit.edu	37	16	2817214	2817214	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:2817214G>C	uc002crk.3	+	10	7234	c.6685G>C	c.(6685-6687)Gcc>Ccc	p.A2229P	SRRM2_uc002crj.1_Missense_Mutation_p.A2133P|SRRM2_uc002crl.1_Missense_Mutation_p.A2229P|SRRM2_uc010bsu.1_Missense_Mutation_p.A2133P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2229	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCCAACCTTGCCAGCAGGAT	0.612												
DNAH3	55567	broad.mit.edu	37	16	21033373	21033373	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:21033373C>T	uc010vbe.2	-	39	5696	c.5696G>A	c.(5695-5697)cGc>cAc	p.R1899H		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1899	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1899C(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAATGAAGGCGACCAAATTC	0.458												
POLR2A	5430	broad.mit.edu	37	17	7404279	7404279	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:7404279G>A	uc002ghf.4	+	11	2288	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	634					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				agaatggggagctgatcatgg	0.557												
TP53	7157	broad.mit.edu	37	17	7578541	7578541	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:7578541A>G	uc002gim.2	-	4	583	c.389T>C	c.(388-390)cTc>cCc	p.L130P	TP53_uc002gig.1_Missense_Mutation_p.L130P|TP53_uc002gih.3_Missense_Mutation_p.L130P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130P|TP53_uc010cnh.1_Missense_Mutation_p.L130P|TP53_uc002gij.2_Missense_Mutation_p.L130P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37P|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91P	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L130R(14)|p.Y126_K132delYSPALNK(12)|p.L130V(11)|p.L130F(10)|p.0?(8)|p.L130H(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130fs*41(4)|p.S127_Q136del10(2)|p.A129_N131delALN(2)|p.L130P(2)|p.L130fs*19(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.N131fs*27(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.Y126fs*11(1)|p.A129_L130insXX(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.A129G(1)|p.A129D(1)|p.L130fs*40(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(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)		CATCTTGTTGAGGGCAGGGGA	0.557		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)		
C17orf39	79018	broad.mit.edu	37	17	17943061	17943061	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:17943061G>A	uc002gsg.1	+	0	451	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	ATPAF2_uc002gsd.1_5'Flank|ATPAF2_uc002gse.1_5'Flank|ATPAF2_uc010vxf.1_5'Flank	NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.	95	Pro-rich.									large_intestine(2)|lung(1)|ovary(2)|skin(1)	6	all_neural(463;0.228)					CCCGCCGGCCGGTGCCTCCGC	0.766												
KCNJ18	3768	broad.mit.edu	37	17	21319772	21319772	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:21319772A>T	uc021tss.1	+	2	1488	c.1118A>T	c.(1117-1119)aAc>aTc	p.N373I	KCNJ18_uc002gyv.1_Missense_Mutation_p.N373I|KCNJ18_uc021tst.1_Missense_Mutation_p.N373I	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	373						integral to membrane	inward rectifier potassium channel activity										CCCAGCGCCAACTCCTTCTGC	0.622												
ACACA	31	broad.mit.edu	37	17	35614745	35614745	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:35614745C>T	uc002hnm.3	-	13	1786	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	ACACA_uc002hnk.3_Missense_Mutation_p.R454H|ACACA_uc002hnl.3_Missense_Mutation_p.R474H|ACACA_uc002hnn.3_Missense_Mutation_p.R532H|ACACA_uc002hno.3_Missense_Mutation_p.R569H|ACACA_uc010cuz.3_Missense_Mutation_p.R532H	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	532	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTATTGCTGCGGAAATTTAG	0.413												
KRT33A	3883	broad.mit.edu	37	17	39503142	39503142	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:39503142C>T	uc002hwk.1	-	4	867	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	277	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ATTGACCGTGCGTCTCAGCTC	0.582												
JUP	3728	broad.mit.edu	37	17	39681243	39681243	+	Missense_Mutation	SNP	G	G	A	rs138005000	byFrequency	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:39681243G>A	uc010wfs.2	-	5	1009	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	JUP_uc002hxd.4_Missense_Mutation_p.T171M	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGCCTGTTCCGTCTCAAACCT	0.587												
EPN3	55040	broad.mit.edu	37	17	48614388	48614388	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:48614388G>A	uc010wms.2	+	2	824	c.636G>A	c.(634-636)gaG>gaA	p.E212E	EPN3_uc002ira.4_Silent_p.E157E|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.E157E			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	157						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TGGCACTGGAGGGCATCGGCA	0.657												
APBA3	9546	broad.mit.edu	37	19	3759564	3759564	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:3759564T>C	uc002lyp.1	-	2	788	c.611A>G	c.(610-612)cAg>cGg	p.Q204R		NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	204					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACCCTCCTGGGGGGCAGG	0.632												
CLPP	8192	broad.mit.edu	37	19	6366351	6366351	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:6366351C>T	uc002mem.1	+	4	761	c.638C>T	c.(637-639)aCc>aTc	p.T213I		NM_006012	NP_006003	Q16740	CLPP_HUMAN	Homo sapiens ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP), nuclear gene encoding mitochondrial protein, mRNA.	213					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity	p.T213A(1)		endometrium(2)|large_intestine(2)|ovary(2)	6						GCCAAGCACACCAAACAGAGC	0.557												
VAV1	7409	broad.mit.edu	37	19	6772889	6772889	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:6772889C>A	uc002mfu.1	+	0	168	c.71C>A	c.(70-72)aCc>aAc	p.T24N	VAV1_uc010xjh.1_Missense_Mutation_p.T24N|VAV1_uc010dva.1_Missense_Mutation_p.T24N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	24	CH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CACCGCGTGACCTGGGATGGG	0.662												
CYP4F8	11283	broad.mit.edu	37	19	15730340	15730340	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:15730340T>C	uc002nbi.3	+	3	447	c.383T>C	c.(382-384)cTg>cCg	p.L128P	CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	128					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TACAAGACCCTGAAGCCCTGG	0.537												
PSG7	5676	broad.mit.edu	37	19	43433692	43433692	+	Missense_Mutation	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:43433692A>T	uc002ovl.4	-	3	710	c.608T>A	c.(607-609)cTa>cAa	p.L203Q	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.L82Q	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	204	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				GACACCAAATAGGTAGAGGGT	0.522												
MYBPC2	4606	broad.mit.edu	37	19	50945481	50945481	+	Silent	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:50945481C>A	uc002psf.2	+	8	864	c.813C>A	c.(811-813)ggC>ggA	p.G271G		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	271	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGACAGAGGCAACAAGATCA	0.522												
RNF181	51255	broad.mit.edu	37	2	85824255	85824255	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:85824255A>G	uc002spv.1	+	3	406	c.356A>G	c.(355-357)gAg>gGg	p.E119G		NM_016494	NP_057578	Q9P0P0	RN181_HUMAN	Homo sapiens ring finger protein 181 (RNF181), mRNA.	119							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						TGCCGCTATGAGCTGCCCACT	0.522												
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:112608394T>C	uc002thi.3	-	13	1856	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(10)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433												
ANAPC1	64682	broad.mit.edu	37	2	112608407	112608407	+	Silent	SNP	T	T	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:112608407T>A	uc002thi.3	-	13	1843	c.1596A>T	c.(1594-1596)ctA>ctT	p.L532L		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	532					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAACGCCATCTAGTGGAGTAC	0.433												
LY75-CD302	4065	broad.mit.edu	37	2	160755444	160755444	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:160755444C>T	uc002ubb.4	-	1	295	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	LY75-CD302_uc010fos.3_Missense_Mutation_p.R74Q|LY75-CD302_uc002ubc.4_Missense_Mutation_p.R74Q|LY75-CD302_uc010fot.2_Missense_Mutation_p.R74Q	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	74	Ricin B-type lectin.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										ATGAAAGAGCCGATGCTGGGA	0.493												
LRP2	4036	broad.mit.edu	37	2	170090092	170090092	+	Missense_Mutation	SNP	G	G	A	rs140789320	by1000genomes	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:170090092G>A	uc002ues.3	-	29	5140	c.4927C>T	c.(4927-4929)Cgg>Tgg	p.R1643W		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1643					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGGGGTGCCGTATAATCTGT	0.498												
TRIP12	9320	broad.mit.edu	37	2	230663714	230663714	+	Missense_Mutation	SNP	A	A	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663714A>C	uc002vpx.1	-	22	3387	c.3278T>G	c.(3277-3279)tTg>tGg	p.L1093W	TRIP12_uc021vxw.1_Missense_Mutation_p.L1078W|TRIP12_uc002vpy.1_Missense_Mutation_p.L775W|TRIP12_uc002vpw.1_Missense_Mutation_p.L1045W|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1045					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)		TTTTGGATTCAAGCTTGCCAG	0.448												
TRIP12	9320	broad.mit.edu	37	2	230663734	230663734	+	Silent	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663734T>C	uc002vpx.1	-	22	3367	c.3258A>G	c.(3256-3258)aaA>aaG	p.K1086K	TRIP12_uc021vxw.1_Silent_p.K1071K|TRIP12_uc002vpy.1_Silent_p.K768K|TRIP12_uc002vpw.1_Silent_p.K1038K|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1038					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)		GGAAAGAAGATTTAGGTGACT	0.398												
TRIP12	9320	broad.mit.edu	37	2	230663763	230663763	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663763T>C	uc002vpx.1	-	22	3338	c.3229A>G	c.(3229-3231)Aaa>Gaa	p.K1077E	TRIP12_uc021vxw.1_Missense_Mutation_p.K1062E|TRIP12_uc002vpy.1_Missense_Mutation_p.K759E|TRIP12_uc002vpw.1_Missense_Mutation_p.K1029E|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1029					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)		GTGGGGCTTTTAGCTATGAAA	0.343												
TGM3	7053	broad.mit.edu	37	20	2298103	2298103	+	Missense_Mutation	SNP	C	C	A	rs147913958		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr20:2298103C>A	uc002wfx.4	+	6	1052	c.955C>A	c.(955-957)Ccc>Acc	p.P319T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	319					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CATGGGAAACCCCCTGGACAA	0.507												
FAM65C	140876	broad.mit.edu	37	20	49221267	49221267	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr20:49221267C>T	uc010zyt.2	-	11	1252	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.G330D|FAM65C_uc002xvn.1_Missense_Mutation_p.G330D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	330										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAAAACTTGCCCGTGGGGCT	0.592												
TRPM2	7226	broad.mit.edu	37	21	45789188	45789188	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr21:45789188G>A	uc010gpt.1	+	4	833	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TRPM2_uc002zet.1_Missense_Mutation_p.G245S|TRPM2_uc002zeu.1_Missense_Mutation_p.G245S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G245S|TRPM2_uc002zex.1_Missense_Mutation_p.G31S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	245						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGCCACCTGGGGCACTGTCCA	0.667												
ZBED4	9889	broad.mit.edu	37	22	50280049	50280049	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr22:50280049C>T	uc003bix.2	+	1	3209	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S	ZBED4_uc021wrx.1_Silent_p.S913S	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	913						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGAGATGTCCGTCGAGTGTA	0.587												
GRIP2	80852	broad.mit.edu	37	3	14558595	14558595	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr3:14558595C>T	uc021wtn.1	-	12	1571	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	428	PDZ 4.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTCCCTTCTTCGCTGCCTCCT	0.572												
TLR9	54106	broad.mit.edu	37	3	52255367	52255367	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr3:52255367G>T	uc003ddb.3	-	4	3466	c.3256C>A	c.(3256-3258)Cgc>Agc	p.R1086S	TLR9_uc003dda.2_Missense_Mutation_p.R989S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	989					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ACACTCTGGCGGCAGAGGCGC	0.687												
TNIP3	79931	broad.mit.edu	37	4	122075742	122075742	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr4:122075742C>G	uc021xrj.1	-	7	766	c.687G>C	c.(685-687)aaG>aaC	p.K229N	TNIP3_uc010ing.3_Missense_Mutation_p.K152N|TNIP3_uc011cgj.2_Missense_Mutation_p.K222N|TNIP3_uc010ini.3_Missense_Mutation_p.K152N	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	152										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGTAATGTTCCTTTTCCTTGT	0.343												
BRD9	65980	broad.mit.edu	37	5	865623	865623	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:865623G>C	uc003jbq.3	-	14	1766	c.1599C>G	c.(1597-1599)gaC>gaG	p.D533E	BRD9_uc003jbl.3_Missense_Mutation_p.D417E|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.D480E|BRD9_uc003jbo.3_Missense_Mutation_p.D437E	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	533							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CTTCGTGCAGGTCCTGCAGGA	0.617												
MARVELD2	153562	broad.mit.edu	37	5	68728420	68728420	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:68728420G>A	uc003jwq.3	+	3	1323	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	MARVELD2_uc010ixf.3_Missense_Mutation_p.A405T|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	417					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACTGAGAACAGCAAAAATGAA	0.448												
SLCO6A1	133482	broad.mit.edu	37	5	101816005	101816005	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:101816005G>T	uc003knn.3	-	1	664	c.492C>A	c.(490-492)ttC>ttA	p.F164L	SLCO6A1_uc003kno.3_Missense_Mutation_p.F164L|SLCO6A1_uc003knp.3_Missense_Mutation_p.F164L|SLCO6A1_uc003knq.3_Missense_Mutation_p.F164L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	164						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTCTCCATAGAATGCTATAA	0.338												
CHSY3	337876	broad.mit.edu	37	5	129519964	129519964	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:129519964G>A	uc003kvd.3	+	2	1129	c.1129G>A	c.(1129-1131)Ggt>Agt	p.G377S		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	377						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAATCGGAAGGGTTACATCCA	0.338												
FBXO38	81545	broad.mit.edu	37	5	147784293	147784293	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:147784293T>G	uc003lpf.1	+	5	758	c.638T>G	c.(637-639)cTt>cGt	p.L213R	FBXO38_uc003lpg.1_Missense_Mutation_p.L213R|FBXO38_uc003lph.2_Missense_Mutation_p.L213R	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	213						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAGGCACCTTTATATGAAG	0.348												
SLIT3	6586	broad.mit.edu	37	5	168212916	168212916	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:168212916G>A	uc010jjg.3	-	11	1567	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SLIT3_uc003mab.3_Silent_p.L383L|SLIT3_uc010jji.2_Silent_p.L383L|SLIT3_uc003mac.1_Silent_p.L180L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	383					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCACAGCAGCTGTAGGGAC	0.493												
NSD1	64324	broad.mit.edu	37	5	176638305	176638305	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:176638305G>A	uc003mfr.4	+	4	3043	c.2905G>A	c.(2905-2907)Gga>Aga	p.G969R	NSD1_uc003mft.4_Missense_Mutation_p.G700R|NSD1_uc003mfs.1_Missense_Mutation_p.G866R|NSD1_uc011dfx.2_Missense_Mutation_p.G617R	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	969					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAGAAAAAGGGAGATGGCAC	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)		
PNPLA1	285848	broad.mit.edu	37	6	36259268	36259268	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:36259268G>A	uc010jwf.2	+	1	377	c.377G>A	c.(376-378)cGc>cAc	p.R126H	PNPLA1_uc010jwe.1_Missense_Mutation_p.R31H|PNPLA1_uc003olw.1_Missense_Mutation_p.R31H	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	126	Patatin.				lipid catabolic process		hydrolase activity	p.R31H(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCTCACCCGCTTAACGGAC	0.602												
PRICKLE4	29964	broad.mit.edu	37	6	41753983	41753983	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:41753983A>G	uc011duf.1	+	6	948	c.700A>G	c.(700-702)Agc>Ggc	p.S234G	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	194						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCTGGGGGAAGCCCCTGCTG	0.672												
TIAM2	26230	broad.mit.edu	37	6	155572049	155572049	+	Silent	SNP	A	A	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:155572049A>C	uc003qqb.3	+	23	5227	c.3954A>C	c.(3952-3954)gtA>gtC	p.V1318V	TIAM2_uc003qqe.3_Silent_p.V1318V|TIAM2_uc010kjj.3_Silent_p.V880V|TIAM2_uc003qqf.3_Silent_p.V694V|TIAM2_uc011efl.1_Silent_p.V654V|TIAM2_uc003qqg.3_Silent_p.V630V|TIAM2_uc003qqh.3_Silent_p.V243V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1318					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.E1317A(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAATCTAGGTAACAGAACTTT	0.423												
HECW1	23072	broad.mit.edu	37	7	43485067	43485067	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:43485067G>A	uc003tid.1	+	10	2901	c.2296G>A	c.(2296-2298)Gct>Act	p.A766T	HECW1_uc011kbi.1_Missense_Mutation_p.A766T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	766					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACGAACGGCGCTGGGCCGTG	0.652												
ZPBP	11055	broad.mit.edu	37	7	50121433	50121433	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:50121433G>A	uc003tou.3	-	2	341	c.271C>T	c.(271-273)Cga>Tga	p.R91*	ZPBP_uc010kyw.3_Nonsense_Mutation_p.R91*	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	91					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCAGCATTTCGCAGTTGTTGC	0.338												
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:55221710C>T	uc003tqk.3	+	6	1000	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
CCDC146	57639	broad.mit.edu	37	7	76922321	76922321	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:76922321T>C	uc003uga.3	+	17	2595	c.2468T>C	c.(2467-2469)cTt>cCt	p.L823P	CCDC146_uc010ldp.3_Missense_Mutation_p.L537P|CCDC146_uc003ugc.3_Missense_Mutation_p.L160P	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	823										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATGATGGCTCTTGTTGCTGAG	0.398												
PCLO	27445	broad.mit.edu	37	7	82387898	82387898	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:82387898G>A	uc003uhx.2	-	24	15711	c.15422C>T	c.(15421-15423)aCg>aTg	p.T5141M		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	5064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTCAATGCGTTTGAGTAGG	0.378												
SLC26A3	1811	broad.mit.edu	37	7	107427951	107427951	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:107427951G>C	uc003ver.2	-	6	950	c.739C>G	c.(739-741)Cta>Gta	p.L247V	SLC26A3_uc003ves.2_Missense_Mutation_p.L212V	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	247					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						ACAGAGTATAGTACCTACAAT	0.323												
KEL	3792	broad.mit.edu	37	7	142649696	142649696	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:142649696C>A	uc003wcb.3	-	9	1313	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	368					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CACCACCAGCCCTAAGATCAT	0.537												
KCNH2	3757	broad.mit.edu	37	7	150649545	150649545	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:150649545C>T	uc003wic.3	-	5	1926	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	KCNH2_uc003wib.3_Missense_Mutation_p.D169N|KCNH2_uc011kux.2_Missense_Mutation_p.D413N|KCNH2_uc003wid.3_Missense_Mutation_p.D169N|KCNH2_uc003wie.3_Missense_Mutation_p.D509N	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	509					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ATGAGCAGGTCGAAGGGGATG	0.632												
CYP7B1	9420	broad.mit.edu	37	8	65517309	65517309	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:65517309C>T	uc003xvj.2	-	4	1367	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	388					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTCTCCCTTTCGCACACAGTA	0.453												
RIMS2	9699	broad.mit.edu	37	8	104922392	104922392	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:104922392C>T	uc003yls.3	+	2	1230	c.989C>T	c.(988-990)aCg>aTg	p.T330M	RIMS2_uc003ylp.3_Missense_Mutation_p.T552M|RIMS2_uc003ylw.2_Missense_Mutation_p.T360M|RIMS2_uc003ylq.3_Missense_Mutation_p.T360M|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	630					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.T330K(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGATCATACGTCTTGGCAT	0.388										HNSCC(12;0.0054)		
CSMD3	114788	broad.mit.edu	37	8	113988286	113988286	+	Silent	SNP	A	A	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:113988286A>T	uc003ynu.3	-	6	1281	c.1122T>A	c.(1120-1122)ccT>ccA	p.P374P	CSMD3_uc003ynt.3_Silent_p.P334P|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	374						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						TAACATCTGCAGGTGTGCTAG	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
COL14A1	7373	broad.mit.edu	37	8	121326264	121326264	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:121326264C>T	uc003yox.3	+	37	4814	c.4549C>T	c.(4549-4551)Ccc>Tcc	p.P1517S	COL14A1_uc003yoz.3_Missense_Mutation_p.P482S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1517	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAAGGAATGCCCGTGAGTTG	0.468												
CXorf23	256643	broad.mit.edu	37	X	19968952	19968952	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:19968952C>T	uc004czp.3	-	6	1664	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CXorf23_uc011mjg.2_Missense_Mutation_p.R120Q|CXorf23_uc004czo.3_Missense_Mutation_p.R505Q	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	555						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATGTCATGTCGTAGGTCATT	0.368												
OPHN1	4983	broad.mit.edu	37	X	67421527	67421527	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:67421527T>C	uc004dww.4	-	10	1253	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	OPHN1_uc011mpg.2_Missense_Mutation_p.Y320C	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	320	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCTCACACAGTACTTCAGTGT	0.418												
LPAR4	2846	broad.mit.edu	37	X	78011289	78011289	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:78011289C>A	uc022bzj.1	+	0	923	c.923C>A	c.(922-924)cCt>cAt	p.P308H	LPAR4_uc010nme.3_Missense_Mutation_p.P308H	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	308						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.D307N(1)|p.D307Y(1)|p.D307H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGTTTTGACCCTTTCATCTAT	0.418												
POF1B	79983	broad.mit.edu	37	X	84634326	84634326	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:84634326T>C	uc004eer.2	-	1	280	c.134A>G	c.(133-135)aAa>aGa	p.K45R	POF1B_uc004ees.3_Missense_Mutation_p.K45R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	45							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CACTACATTTTTTTCTGGAGG	0.577												
GUCY2F	2986	broad.mit.edu	37	X	108673542	108673542	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:108673542G>A	uc022cch.1	-	6	1870	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.F595F	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	595	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATACCATTTCGAACACATCAC	0.388												
LAMP2	3920	broad.mit.edu	37	X	119565295	119565295	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:119565295G>A	uc004ess.4	-						LAMP2_uc004est.4_Silent_p.D372D|LAMP2_uc011mtz.2_Intron	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.						platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GGAAGTTGTCGTCATCTGCAC	0.438												
GRIA3	2892	broad.mit.edu	37	X	122532507	122532507	+	Silent	SNP	C	C	T	rs148850386	byFrequency	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:122532507C>T	uc004etq.4	+	6	1225	c.933C>T	c.(931-933)caC>caT	p.H311H	GRIA3_uc004etr.4_Silent_p.H311H|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.H295H	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	311					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CATTGACACACGACGCAATAC	0.423												
SMARCA1	6594	broad.mit.edu	37	X	128657225	128657225	+	Silent	SNP	G	G	A			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:128657225G>A	uc011muk.1	-	0	236	c.123C>T	c.(121-123)gcC>gcT	p.A41A	SMARCA1_uc004eun.4_Silent_p.A41A|SMARCA1_uc004eup.4_Silent_p.A41A|SMARCA1_uc011mul.1_Silent_p.A41A	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	41					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CGGTGGCCGCGGCGGCCGCTC	0.667												
ZNF280C	55609	broad.mit.edu	37	X	129370597	129370598	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:129370597_129370598delTG	uc004evm.3	-	6	712_713	c.509_510delCA	c.(508-510)tcafs	p.S170fs	ZNF280C_uc010nrf.2_Frame_Shift_Del_p.S170fs	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	170	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAACACATATGAAGTATTTTT	0.312												
MAGEC1	9947	broad.mit.edu	37	X	140995644	140995644	+	Silent	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:140995644C>T	uc004fbt.3	+	3	2778	c.2454C>T	c.(2452-2454)ccC>ccT	p.P818P	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.P477P	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	818							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)					GCTCCTTCCCCTCCTCCACTT	0.557										HNSCC(15;0.026)		
AFF2	2334	broad.mit.edu	37	X	148035181	148035181	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:148035181C>T	uc004fcp.3	+	9	1948	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	AFF2_uc004fcq.3_Missense_Mutation_p.S480L|AFF2_uc004fcr.3_Missense_Mutation_p.S451L|AFF2_uc011mxb.2_Missense_Mutation_p.S455L|AFF2_uc004fcs.3_Missense_Mutation_p.S457L|AFF2_uc011mxc.2_Missense_Mutation_p.S131L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	490					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGCGAATCGGAGAGCAGC	0.557												
