Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OR4C13	283092	broad.mit.edu	37	11	49974721	49974721	+	Silent	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:49974721T>C	ENST00000555099.1	+	1	779	c.747T>C	c.(745-747)ttT>ttC	p.F249F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTTATCCTTTATACCCTGCA	0.438000													141	197					0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155582849	155582849	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:155582849G>T	ENST00000245564.2	+	11	1132	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.A335S|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	370					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GGTGGTGACAGCAGGAGCAAT	0.517000													6	167					5.68852e-11	6.48492e-11	1	1	0
TMX1	81542	broad.mit.edu	37	14	51713839	51713839	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr14:51713839A>G	ENST00000457354.2	+	4	469	c.344A>G	c.(343-345)cAg>cGg	p.Q115R		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	115	Thioredoxin.				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						AGGCGCTATCAGGGTCCAAGG	0.338000													4	204					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113484839	113484839	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:113484839T>C	ENST00000297405.5	-	32	5620	c.5376A>G	c.(5374-5376)atA>atG	p.I1792M	CSMD3_ENST00000343508.3_Missense_Mutation_p.I1752M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1688M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1792M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1792	CUB 10.					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						TTGGAACTGCTATAGAATAAA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			46	288					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113484933	113484933	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:113484933G>A	ENST00000297405.5	-	32	5526	c.5282C>T	c.(5281-5283)cCc>cTc	p.P1761L	CSMD3_ENST00000343508.3_Missense_Mutation_p.P1721L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1657L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1761L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1761						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						ACTTCCACAGGGCGCTAGGAA	0.318000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	184					0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104307093	104307093	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr9:104307093C>T	ENST00000389120.3	+	6	763	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	225					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAACTCTTTCCTCGCACAGGA	0.413000													5	157					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78098001	78098001	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:78098001G>A	ENST00000370801.3	-	5	1514	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P347S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCGGAGGCTGGCATACTCTCA	0.443000													4	247					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95531654	95531654	+	Missense_Mutation	SNP	A	A	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:95531654A>C	ENST00000297591.5	-	9	2147	c.2072T>G	c.(2071-2073)aTt>aGt	p.I691S	KIAA1429_ENST00000437199.1_Missense_Mutation_p.I691S|KIAA1429_ENST00000421249.2_Missense_Mutation_p.I691S	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	691					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTTACTGGAATTGACAGAAG	0.408000													84	118					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639259	7639259	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr12:7639259G>A	ENST00000359156.4	-	10	2496	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V	CD163_ENST00000432237.2_Missense_Mutation_p.A765V|CD163_ENST00000541972.1_Missense_Mutation_p.A753V|CD163_ENST00000396620.3_Missense_Mutation_p.A798V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	765	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGCATTAATGGCCTCTCCACA	0.537000													41	218					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114208764	114208764	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:114208764G>A	ENST00000357077.4	+	19	2136	c.2083G>A	c.(2083-2085)Gga>Aga	p.G695R	ANK2_ENST00000506722.1_Missense_Mutation_p.G674R|ANK2_ENST00000264366.6_Missense_Mutation_p.G695R|ANK2_ENST00000394537.3_Missense_Mutation_p.G695R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	695					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGTAGAGTGGACTCACATC	0.348000													10	95					0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1487226	1487226	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:1487226C>T	ENST00000300954.5	-	7	830	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	257	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCAGCTGGCGCTGTAAATG	0.682000													25	17					0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24309234	24309234	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:24309234G>A	ENST00000357002.4	+	4	547	c.432G>A	c.(430-432)caG>caA	p.Q144Q	ZNF254_ENST00000342944.6_Silent_p.Q59Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	144					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GACTTAACCAGTGTTTCACAA	0.313000													4	196					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040253	107040253	+	Silent	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:107040253A>G	ENST00000409886.3	-	20	4257	c.4170T>C	c.(4168-4170)aaT>aaC	p.N1390N	RGPD3_ENST00000304514.7_Silent_p.N1390N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1390	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GAACGTGCTTATTATCATAAT	0.353000													10	891					0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147431123	147431123	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:147431123T>C	ENST00000432059.2	-	3	508	c.262A>G	c.(262-264)Ata>Gta	p.I88V	SLC10A7_ENST00000507030.1_Missense_Mutation_p.I88V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I88V|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I88V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I88V|SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000264986.3_Intron			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	88						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAAAGCCATATTGTTGCTGGG	0.368000													86	71					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33619800	33619800	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr10:33619800G>A	ENST00000265371.4	-	3	609	c.84C>T	c.(82-84)ggC>ggT	p.G28G	NRP1_ENST00000395995.1_Silent_p.G28G|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374867.2_Silent_p.G28G|NRP1_ENST00000374816.3_Silent_p.G28G|NRP1_ENST00000374822.4_Silent_p.G28G|NRP1_ENST00000374821.5_Silent_p.G28G|NRP1_ENST00000374823.5_Silent_p.G28G|NRP1_ENST00000432372.2_Silent_p.G28G			O14786	NRP1_HUMAN	neuropilin 1	28	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTATAGTATCGCCACATTTAT	0.378000													36	90					0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74347348	74347348	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr9:74347348G>C	ENST00000377044.4	-	7	2021	c.1482C>G	c.(1480-1482)atC>atG	p.I494M	TMEM2_ENST00000377066.5_Missense_Mutation_p.I431M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	494						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTTCTCCTTGGATCACAATAT	0.438000													78	96					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	621209	621209	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:621209G>A	ENST00000358353.3	-	8	982	c.660C>T	c.(658-660)acC>acT	p.T220T	CDHR5_ENST00000349570.7_Silent_p.T220T|CDHR5_ENST00000397542.2_Silent_p.T220T			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	220	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CTAGTGTGGCGGTGGCAGTGT	0.652000													52	56					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108773717	108773717	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:108773717G>A	ENST00000232603.5	-	14	1270	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	MORC1_ENST00000483760.1_Silent_p.G396G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	396					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCAACCACGCCTGCGCCAA	0.308000													63	102					0	0	1	0	0
RER1	11079	broad.mit.edu	37	1	2334543	2334543	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:2334543G>A	ENST00000605895.1	+	7	704	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Missense_Mutation_p.G191S	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	191				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).	retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGAGGATGCCGGCAAGGCCTT	0.498000													4	156					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													7	281					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277784	186277784	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:186277784C>T	ENST00000445192.2	+	7	2978	c.2933C>T	c.(2932-2934)aCa>aTa	p.T978I	PRG4_ENST00000367485.4_Missense_Mutation_p.T885I|PRG4_ENST00000367483.4_Missense_Mutation_p.T937I|PRG4_ENST00000367486.3_Missense_Mutation_p.T935I|PRG4_ENST00000367484.3_Missense_Mutation_p.T507I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	978					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACTCTTAAAACAACTACTCTT	0.353000													122	179					0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30085837	30085837	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr7:30085837G>C	ENST00000449726.1	+	3	519	c.169G>C	c.(169-171)Gat>Cat	p.D57H	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D57H|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D57H|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D57H	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	57	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TCATTCTGTAGATAATACACG	0.517000													108	132					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88911830	88911830	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr10:88911830C>A	ENST00000298786.4	+	3	833	c.719C>A	c.(718-720)aCa>aAa	p.T240K	FAM35A_ENST00000298784.1_Missense_Mutation_p.T240K			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	240								p.T240K(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCAACTGATACAGAATTTCTC	0.388000													4	127					1	1	1	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								74	99					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10181805	10181805	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chrX:10181805C>T	ENST00000380833.4	+	11	2052	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	CLCN4_ENST00000421085.2_Missense_Mutation_p.A460V|CLCN4_ENST00000380829.1_Missense_Mutation_p.A523V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	554						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCCTGATGGCGGCGGCTGTG	0.537000													75	127					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													7	23					0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63149682	63149682	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:63149682C>A	ENST00000279178.3	+	6	1255	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	336					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAAAAAAACCTTCTCTGTG	0.388000													6	369					0.0381472	0.0402665	1	1	0
FLG2	388698	broad.mit.edu	37	1	152324784	152324784	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:152324784G>A	ENST00000388718.5	-	3	5550	c.5478C>T	c.(5476-5478)caC>caT	p.H1826H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1826							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCTGGCCGTGAGTGTGTC	0.512000													244	239					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63092622	63092622	+	Missense_Mutation	SNP	G	G	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr15:63092622G>T	ENST00000561311.1	+	48	6520	c.6290G>T	c.(6289-6291)aGt>aTt	p.S2097I	TLN2_ENST00000306829.6_Missense_Mutation_p.S2097I			Q9Y4G6	TLN2_HUMAN	talin 2	2097					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATCTCATCAGTGCTACCAAG	0.552000													7	229					0.0293803	0.0315977	1	1	0
TP53	7157	broad.mit.edu	37	17	7579361	7579361	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:7579361A>G	ENST00000420246.2	-	4	458	c.326T>C	c.(325-327)tTc>tCc	p.F109S	TP53_ENST00000445888.2_Missense_Mutation_p.F109S|TP53_ENST00000413465.2_Missense_Mutation_p.F109S|TP53_ENST00000455263.2_Missense_Mutation_p.F109S|TP53_ENST00000359597.4_Missense_Mutation_p.F109S|TP53_ENST00000269305.4_Missense_Mutation_p.F109S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (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.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GCCCAGACGGAAACCGTAGCT	0.612000		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)			118	14					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5428387	5428387	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr18:5428387G>C	ENST00000341928.2	-	9	1330	c.990C>G	c.(988-990)aaC>aaG	p.N330K	EPB41L3_ENST00000540638.2_Missense_Mutation_p.N330K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000544123.1_Missense_Mutation_p.N330K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	330	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGGCAAATCTGTTTATTCGCA	0.428000													10	320					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30668317	30668317	+	Silent	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:30668317C>A	ENST00000376406.3	-	15	6842	c.6195G>T	c.(6193-6195)ctG>ctT	p.L2065L	MDC1_ENST00000376405.2_Silent_p.L1801L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2065	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTCCAGTCAGCAGGAACTCAG	0.572000								Other conserved DNA damage response genes					87	170					2.38877e-28	2.89702e-28	1	1	0
NUBP2	10101	broad.mit.edu	37	16	1838702	1838702	+	Missense_Mutation	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr16:1838702C>A	ENST00000262302.9	+	7	923	c.803C>A	c.(802-804)gCg>gAg	p.A268E	NUBP2_ENST00000543305.1_Missense_Mutation_p.A127E|NUBP2_ENST00000565987.1_Missense_Mutation_p.A208E|NUBP2_ENST00000568706.1_Missense_Mutation_p.A127E	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	268						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GCGACGCCCGCGTGCCTCCCC	0.652000													3	53					1	1	1	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338289	13338289	+	RNA	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:13338289C>A	ENST00000602906.1	+	0	307																				kidney(3)|lung(1)	4						CCTAACAGACCCTTCCAAGTT	0.433000													35	101					7.11191e-15	8.44539e-15	1	1	0
SLC16A1	6566	broad.mit.edu	37	1	113460447	113460447	+	Missense_Mutation	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:113460447A>G	ENST00000538576.1	-	4	1412	c.581T>C	c.(580-582)cTc>cCc	p.L194P	SLC16A1_ENST00000369626.3_Missense_Mutation_p.L194P|SLC16A1_ENST00000433570.4_Missense_Mutation_p.L194P	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	194					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	TGGTCGCATGAGGGCTCCAGC	0.488000													4	168					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2202239	2202239	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:2202239C>T	ENST00000544865.1	-	2	2225	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	SMG6_ENST00000263073.6_Missense_Mutation_p.R603H			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	603					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGACTGATGCGGTCCCTGGA	0.582000													6	479					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr5:140531282G>A	ENST00000231136.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		482	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCATCAACGCCCAGGTCAC	0.642000													184	225					0	0	1	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20370088	20370088	+	RNA	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:20370088G>A	ENST00000593655.1	-	0	199																											GACCCATCCCGCAGAAAGCAC	0.413000													4	101					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138697040	138697040	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chrX:138697040C>A	ENST00000520602.1	-	13	1828	c.1543G>T	c.(1543-1545)Ggg>Tgg	p.G515W	MCF2_ENST00000370578.4_Splice_Site_p.G600W|MCF2_ENST00000414978.1_Splice_Site_p.G515W|MCF2_ENST00000536274.1_Splice_Site_p.G416W|MCF2_ENST00000338585.6_Splice_Site_p.V455L|MCF2_ENST00000370573.4_Splice_Site_p.G455W|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370576.4_Splice_Site_p.G455W|MCF2_ENST00000519895.1_Splice_Site_p.V515L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	455	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GACATTTTACCTTGTTTAGAT	0.363000													5	277					0.184627	0.191341	1	1	0
EMID1	129080	broad.mit.edu	37	22	29629640	29629640	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr22:29629640G>A	ENST00000334018.6	+	10	1139	c.951G>A	c.(949-951)ggG>ggA	p.G317G	EMID1_ENST00000404755.3_Silent_p.G317G|EMID1_ENST00000404820.3_Silent_p.G317G|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	315	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GTGTCCCTGGGAGTCCTGGTC	0.522000													25	46					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													7	281					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974720	49974720	+	Missense_Mutation	SNP	T	T	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:49974720T>A	ENST00000555099.1	+	1	778	c.746T>A	c.(745-747)tTt>tAt	p.F249Y		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATCTTATCCTTTATACCCTGC	0.438000													138	200					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30505561	30505561	+	Silent	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr16:30505561G>A	ENST00000356798.6	+	12	1422	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Silent_p.R331R|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	414					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGCCCTCCCGGCAAAAGACTT	0.617000													6	157					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104062907	104062907	+	Splice_Site	SNP	C	C	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:104062907C>A	ENST00000265148.3	-	35	5552	c.5463G>T	c.(5461-5463)aaG>aaT	p.K1821N	CENPE_ENST00000380026.3_Splice_Site_p.K1796N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1821					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATAAAAATACCTTTTCTTGTA	0.313000													7	103					0.0293803	0.0315977	1	1	0
TPTE	7179	broad.mit.edu	37	21	10941931	10941931	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr21:10941931A>T	ENST00000298232.7	-	13	1085	c.718T>A	c.(718-720)Tct>Act	p.S240T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S220T|TPTE_ENST00000361285.4_Missense_Mutation_p.S258T	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	258	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGAAAGACTGCCTTCCA	0.313000													5	560					0	0	1	0	0
CELA3A	10136	broad.mit.edu	37	1	22336270	22336270	+	Missense_Mutation	SNP	G	G	C			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:22336270G>C	ENST00000290122.3	+	7	734	c.715G>C	c.(715-717)Gtt>Ctt	p.V239L		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACCAGCTTTGTTTCTGCCTT	0.612000													3	86					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50682829	50682829	+	Splice_Site	SNP	A	A	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:50682829A>G	ENST00000008391.3	+	2	268	c.40A>G	c.(40-42)Ata>Gta	p.I14V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	14							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTCCTTCCAGATACGTCACGA	0.527000													6	172					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034747	58034747	+	Missense_Mutation	SNP	A	A	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:58034747A>T	ENST00000395079.2	-	1	985	c.584T>A	c.(583-585)aTa>aAa	p.I195K		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AATGGCTAGTATGGCTGCCAC	0.547000													36	36					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46944925	46944925	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:46944925C>T	ENST00000449590.1	+	16	1764	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	PTH1R_ENST00000430002.2_Missense_Mutation_p.R521C|PTH1R_ENST00000418619.1_Missense_Mutation_p.R521C|PTH1R_ENST00000313049.5_Missense_Mutation_p.R521C	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	521						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CCTCAGCCCCCGCCTACTGCC	0.682000													50	60					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179319178	179319178	+	Missense_Mutation	SNP	G	G	A			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:179319178G>A	ENST00000409117.3	+	3	687	c.331G>A	c.(331-333)Gca>Aca	p.A111T	DFNB59_ENST00000375129.4_Missense_Mutation_p.A111T	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	111					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGATTCCATTGCAGTGAAAGC	0.348000													6	157					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37902419	37902419	+	Missense_Mutation	SNP	C	C	T			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:37902419C>T	ENST00000309185.3	+	13	1578	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	GRB7_ENST00000309156.4_Silent_p.C472C|GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V			Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	0	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.C472C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCTCTTTGTGCCACCTGCAGA	0.587000													5	237					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)gagdel	p.E155del	ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													7	125	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195690462	195690463	+	RNA	INS	-	-	G			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:195690462_195690463insG	ENST00000427841.1	-	0	2203					NR_003264.2																						catgcgcaacaggggactgtaa	0.366													2	4	---	---	---	---					
BANK1	55024	broad.mit.edu	37	4	102791660	102791661	+	Splice_Site	DEL	AG	AG	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:102791660_102791661delAG	ENST00000504592.1	+	9	1136		c.e9-1		BANK1_ENST00000444316.2_Splice_Site|BANK1_ENST00000428908.1_Splice_Site|BANK1_ENST00000508653.1_Splice_Site|BANK1_ENST00000322953.4_Splice_Site			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1						B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GTTTTTCATAAGAGTTTCCTGC	0.342													87	107	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:146755399_146755401delCAG	ENST00000361719.2	+	9	3522_3524	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCCTCTCCAGCAGCAGCAGC	0.660													7	146	---	---	---	---					
PHF10	55274	broad.mit.edu	37	6	170115929	170115930	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:170115929_170115930delTC	ENST00000339209.4	-	6	690_691	c.567_568delGA	c.(565-570)cagaaafs	p.K190fs	PHF10_ENST00000366780.4_Frame_Shift_Del_p.K188fs	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	190	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GCTTCAACTTTCTGAGTATTCT	0.351													66	22	---	---	---	---					
TRIM21	6737	broad.mit.edu	37	11	4409705	4409705	+	Frame_Shift_Del	DEL	T	T	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:4409705delT	ENST00000254436.7	-	4	672	c.560delA	c.(559-561)aacfs	p.N187fs	TRIM21_ENST00000543625.1_Frame_Shift_Del_p.N187fs	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	187					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AACCAGGAAGTTTTTTTGCTG	0.483													8	656	---	---	---	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													7	285	---	---	---	---					
LA16c-23H5.4	0	broad.mit.edu	37	22	16419352	16419352	+	RNA	DEL	T	T	-			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr22:16419352delT	ENST00000444162.1	+	0	279																											GAATCGACGATTTTTTTTTTG	0.398													4	7	---	---	---	---					
CRELD2	79174	broad.mit.edu	37	22	50315936	50315973	+	Splice_Site	DEL	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	CCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	-	rs71805922	by1000genomes	TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr22:50315936_50315973delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	ENST00000404488.3	+	6	727_756	c.592_621delCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	c.(592-621)cctcagcagtcaggaccggcctctccgattdel	p.PQQSGPASPI198fs	CRELD2_ENST00000407217.3_Intron|CRELD2_ENST00000328268.4_Intron|CRELD2_ENST00000444954.1_Intron|CRELD2_ENST00000403427.3_Intron	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	197						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		TTCTTACGCCCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCGCCTTGCTGTC	0.622													3	6	---	---	---	---					
