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
MEIS2	4212	broad.mit.edu	37	15	37184485	37184485	+	Missense_Mutation	SNP	G	G	T	rs139991974		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:37184485G>T	ENST00000338564.5	-	13	1748	c.1302C>A	c.(1300-1302)caC>caA	p.H434Q	MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.H434Q|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.H441Q	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	441					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.H441H(1)|p.H441Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGGGTCCTCCGTGCATCATCA	0.522000													135	279					1.00589e-60	1.86309e-60	0.003610	1	0
SIPA1L2	57568	broad.mit.edu	37	1	232581492	232581492	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:232581492T>C	ENST00000366630.1	-	10	3494	c.3136A>G	c.(3136-3138)Aaa>Gaa	p.K1046E	SIPA1L2_ENST00000308942.4_Missense_Mutation_p.K120E|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K1046E			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1046					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.K1046E(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGTCGAGTTTATATTCCACC	0.582000													64	175					0	0	0.003610	0	0
KRT74	121391	broad.mit.edu	37	12	52967091	52967091	+	Splice_Site	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:52967091C>A	ENST00000549343.1	-	1	509	c.471_splice	c.e1+1	p.K157_splice	KRT74_ENST00000305620.2_Splice_Site_p.K157_splice			Q7RTS7	K2C74_HUMAN	keratin 74	157	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.K157N(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGAGACCCACCTTGTCAATGA	0.592000													11	98					5.50884e-06	6.97059e-06	0.001368	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589769	140589769	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:140589769G>T	ENST00000239450.2	+	1	1479	c.1290G>T	c.(1288-1290)agG>agT	p.R430S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R93S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		430	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R430S(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACCCCCAGGCTAAAAACCG	0.537000													14	121					2.61681e-11	3.92522e-11	0.002450	1	0
TSGA10IP	254187	broad.mit.edu	37	11	65714870	65714870	+	RNA	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:65714870T>A	ENST00000532620.1	+	0	805							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein									p.S162T(1)		endometrium(2)|kidney(3)|lung(9)	14						GGAGCTAGGATCAGAGCCCCC	0.642000													16	10					0	0	0.003163	0	0
IRS4	8471	broad.mit.edu	37	X	107976663	107976663	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:107976663G>A	ENST00000372129.2	-	1	2988	c.2912C>T	c.(2911-2913)cCa>cTa	p.P971L		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	971						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.P971L(2)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTCGTTTGCTGGATTTGGAAA	0.483000													28	268					0	0	0.006320	0	0
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	94					0	0	0.000248	0	0
ENPP1	5167	broad.mit.edu	37	6	132211593	132211593	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:132211593C>T	ENST00000360971.2	+	25	2740	c.2720C>T	c.(2719-2721)cCa>cTa	p.P907L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	907	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.P855L(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AGAAAAGAGCCAGTTTCAGAC	0.383000													23	49					0	0	0.003330	0	0
GIMAP8	155038	broad.mit.edu	37	7	150163825	150163825	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:150163825C>A	ENST00000307271.3	+	2	613	c.39C>A	c.(37-39)ctC>ctA	p.L13L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	13	Poly-Leu.					endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.L13L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AACTGCGGCTCCTCCTCCTGG	0.498000													32	70					1.74807e-11	2.63447e-11	0.002096	1	0
FLG2	388698	broad.mit.edu	37	1	152325739	152325739	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:152325739T>C	ENST00000388718.5	-	3	4595	c.4523A>G	c.(4522-4524)gAa>gGa	p.E1508G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1508							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)			TGAGTGCACTTCACTGTCACT	0.502000													13	814					0	0	0.001855	0	0
CPNE4	131034	broad.mit.edu	37	3	131388541	131388541	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:131388541C>A	ENST00000512055.1	-	11	2785	c.659G>T	c.(658-660)gGa>gTa	p.G220V	CPNE4_ENST00000502818.1_Missense_Mutation_p.G238V|CPNE4_ENST00000511604.1_Missense_Mutation_p.G220V|CPNE4_ENST00000429747.1_Missense_Mutation_p.G220V|CPNE4_ENST00000512332.1_Missense_Mutation_p.G238V			Q96A23	CPNE4_HUMAN	copine IV	220	C2 2.							p.G220L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GTCTGGGTCTCCGCTGCATAG	0.383000													67	137					6.88805e-51	1.26843e-50	0.003610	1	0
URB2	9816	broad.mit.edu	37	1	229779310	229779310	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:229779310A>T	ENST00000258243.2	+	5	3801	c.3665A>T	c.(3664-3666)gAt>gTt	p.D1222V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1222						nucleolus		p.D1222V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GTCACTCAGGATATTGAGCCT	0.453000													8	182					0	0	0.004482	0	0
FAT4	79633	broad.mit.edu	37	4	126241342	126241342	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:126241342C>G	ENST00000394329.3	+	1	3789	c.3776C>G	c.(3775-3777)gCt>gGt	p.A1259G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1259	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A1259G(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGACAGTTTGCTATAGACAGT	0.378000													10	61					0	0	0.006214	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776250	77776250	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:77776250G>T	ENST00000521891.2	+	11	10748	c.10300G>T	c.(10300-10302)Gac>Tac	p.D3434Y	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3408Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3385Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3389Y	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3385						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D3418Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCCTTTGATTGACCCACAAGA	0.448000										HNSCC(33;0.089)			10	35					3.07112e-06	3.90925e-06	0.000978	1	0
ZAN	7455	broad.mit.edu	37	7	100364781	100364781	+	RNA	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:100364781C>T	ENST00000542585.1	+	0	4909				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.N1587N(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCGCCACCAACGAGAACCGCG	0.577000													5	79					0	0	0.000602	0	0
CPAMD8	27151	broad.mit.edu	37	19	17057956	17057956	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:17057956C>A	ENST00000443236.1	-	21	2762	c.2731G>T	c.(2731-2733)Gtg>Ttg	p.V911L		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	864						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.V911L(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGGGGGCCACACACATCTTC	0.587000													41	153					1.15505e-17	1.89737e-17	0.002222	1	0
TIAM1	7074	broad.mit.edu	37	21	32639219	32639219	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr21:32639219T>G	ENST00000286827.3	-	5	541	c.70A>C	c.(70-72)Aag>Cag	p.K24Q	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.K24Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	24				KH -> ND (in Ref. 1; AAA98443).	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.K24Q(1)|p.N24H(1)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GAAGTGTGCTTGCGCCCCAGG	0.582000													10	55					0	0	0.000978	0	0
GPR125	166647	broad.mit.edu	37	4	22390174	22390174	+	Silent	SNP	C	C	G	rs12700	byFrequency	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:22390174C>G	ENST00000334304.5	-	19	3389	c.3120G>C	c.(3118-3120)gcG>gcC	p.A1040A	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1040					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.A1040A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCACGAAGAACGCACTGAAGC	0.468000													11	54					0	0	0.000978	0	0
HK2	3099	broad.mit.edu	37	2	75117984	75117984	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:75117984C>T	ENST00000290573.2	+	18	3270	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	HK2_ENST00000409174.1_Silent_p.F862F	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	890	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.F890F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						ATGTGTCTTTCCTGCAGTCAG	0.552000													38	223					0	0	0.004289	0	0
HECW1	23072	broad.mit.edu	37	7	43594285	43594285	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:43594285G>A	ENST00000395891.1	+	29	5210	c.4605G>A	c.(4603-4605)acG>acA	p.T1535T	HECW1_ENST00000453890.1_Silent_p.T1501T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1535	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.T1535T(1)|p.T1514T(1)		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						AGTTTGTCACGGGAACATCCA	0.557000													22	41					0	0	0.002780	0	0
XPNPEP2	7512	broad.mit.edu	37	X	128901653	128901653	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:128901653G>A	ENST00000371106.3	+	20	2007	c.1815G>A	c.(1813-1815)ctG>ctA	p.L605L		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	605					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	p.L605L(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ATGTCAGCCTGCTGTCTCCCG	0.587000													6	173					0	0	0.001984	0	0
GPR45	11250	broad.mit.edu	37	2	105859317	105859317	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:105859317C>A	ENST00000258456.1	+	1	1118	c.1002C>A	c.(1000-1002)gcC>gcA	p.A334A		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	334						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.A334A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCGCGAGGCCTGCATAGAGT	0.542000													13	115					0.00010058	0.000120809	0.001368	1	0
XIRP2	129446	broad.mit.edu	37	2	168107427	168107427	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:168107427C>A	ENST00000409195.1	+	9	9614	c.9525C>A	c.(9523-9525)ccC>ccA	p.P3175P	XIRP2_ENST00000295237.9_Silent_p.P3175P|XIRP2_ENST00000409273.1_Silent_p.P2953P|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3000					actin cytoskeleton organization	cell junction	actin binding	p.P3175P(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTCTCCACCCAGGAGTCGCT	0.498000													14	99					6.31663e-08	8.73663e-08	0.003163	1	0
IDH3G	3421	broad.mit.edu	37	X	153051701	153051701	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:153051701C>A	ENST00000370092.3	-	12	1231	c.1046G>T	c.(1045-1047)cGt>cTt	p.R349L	IDH3G_ENST00000370093.1_3'UTR|IDH3G_ENST00000217901.5_Missense_Mutation_p.R349L|IDH3G_ENST00000427365.2_Missense_Mutation_p.R291L	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	349					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.R349L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GACAGCCTTACGGATGGAGGT	0.662000													14	130					0.000308642	0.000362541	0.003163	1	0
USP29	57663	broad.mit.edu	37	19	57641213	57641213	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:57641213A>C	ENST00000254181.4	+	4	1624	c.1170A>C	c.(1168-1170)aaA>aaC	p.K390N	USP29_ENST00000598197.1_Missense_Mutation_p.K390N	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	390					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.K390N(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACATGGAAAAATTAAATGCCA	0.398000													17	76					0	0	0.007413	0	0
BCAN	63827	broad.mit.edu	37	1	156617416	156617416	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:156617416G>A	ENST00000329117.4	+	4	919	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	BCAN_ENST00000361588.5_Missense_Mutation_p.A195T|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	195	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.A195T(2)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCTATGCCGCCTACCTTGG	0.637000													13	178					0	0	0.001855	0	0
APOA4	337	broad.mit.edu	37	11	116691784	116691784	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:116691784G>A	ENST00000357780.3	-	3	1104	c.990C>T	c.(988-990)ggC>ggT	p.G330G		NM_000482.3	NP_000473.2			apolipoprotein A-IV									p.G330G(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		CCGCATGGGGGCCCAGTTTCT	0.592000													70	73					0	0	0.003610	0	0
CLDN2	9075	broad.mit.edu	37	X	106171887	106171887	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:106171887C>A	ENST00000541806.1	+	2	948	c.429C>A	c.(427-429)atC>atA	p.I143I	CLDN2_ENST00000540876.1_Silent_p.I143I|CLDN2_ENST00000336803.1_Silent_p.I143I	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	143					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.I143I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TTCATGGGATCCTACGGGACT	0.498000													34	234					1.22384e-17	2.00521e-17	0.002836	1	0
ZCCHC5	203430	broad.mit.edu	37	X	77913149	77913149	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:77913149G>T	ENST00000321110.1	-	2	1064	c.769C>A	c.(769-771)Cag>Aag	p.Q257K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	257							nucleic acid binding|zinc ion binding	p.Q257K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CTATACAGCTGAACCAGGAAC	0.507000													9	16					2.17888e-05	2.68266e-05	0.006214	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873455	91873455	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:91873455C>A	ENST00000373094.1	+	7	4405	c.3560C>A	c.(3559-3561)cCa>cAa	p.P1187Q	PCDH11X_ENST00000373097.1_Missense_Mutation_p.P1177Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P1150Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P1169Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P1179Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P1150Q|PCDH11X_ENST00000504220.1_3'UTR	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1187					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P1187Q(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACCACAGCCCACGAGTGACA	0.587000													55	111					6.4308e-24	1.12275e-23	0.003610	1	0
TUFM	7284	broad.mit.edu	37	16	28856776	28856776	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:28856776C>T	ENST00000313511.3	-	3	411	c.273G>A	c.(271-273)aaG>aaA	p.K91K		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	88						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.K91K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						ACTTCTTGAACTTAGCCCCAC	0.547000													12	95					0	0	0.001855	0	0
DLGAP2	9228	broad.mit.edu	37	8	1616686	1616686	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:1616686G>T	ENST00000421627.2	+	6	1896	c.1762G>T	c.(1762-1764)Gac>Tac	p.D588Y		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	667					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.D610Y(1)|p.D632Y(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACAGCCTGGACAGCAACAA	0.667000													7	5					2.7689e-08	3.87161e-08	0.001984	1	0
AQP7	364	broad.mit.edu	37	9	33386153	33386153	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:33386153G>A	ENST00000537089.1	-	5	489	c.171C>T	c.(169-171)acC>acT	p.T57T	AQP7_ENST00000377425.4_Silent_p.T92T|AQP7_ENST00000539936.1_Silent_p.T149T|AQP7_ENST00000541274.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	149					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.T149T(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CGACGGGACCGGTCACCATCA	0.577000													12	87					0	0	0.002450	0	0
FAM47C	442444	broad.mit.edu	37	X	37028233	37028233	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:37028233C>A	ENST00000358047.3	+	1	1802	c.1750C>A	c.(1750-1752)Cca>Aca	p.P584T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	584								p.P584T(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCATCTCTGCCCAGAGCCTCC	0.642000													12	88					6.94344e-10	1.00838e-09	0.006122	1	0
C1orf101	257044	broad.mit.edu	37	1	244643077	244643077	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:244643077A>G	ENST00000366534.4	+	5	371	c.317A>G	c.(316-318)tAt>tGt	p.Y106C	C1orf101_ENST00000366531.3_5'UTR|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Missense_Mutation_p.Y106C	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	106						integral to membrane		p.Y106C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			CTGTGGTACTATAGAGTTAGG	0.284000													13	125					0	0	0.001368	0	0
ECT2L	345930	broad.mit.edu	37	6	139167715	139167715	+	Silent	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:139167715A>G	ENST00000423192.1	+	7	965	c.804A>G	c.(802-804)tcA>tcG	p.S268S	ECT2L_ENST00000541398.1_Silent_p.S199S|ECT2L_ENST00000367682.2_Silent_p.S268S			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	268					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.S268S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CTTTATTATCAAAGAAAAATT	0.368000			"""N, Splice, Mis"""		ETP ALL								10	148					0	0	0.006214	0	0
C9orf171	389799	broad.mit.edu	37	9	135357700	135357700	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:135357700G>T	ENST00000343036.2	+	2	247	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S	C9orf171_ENST00000393215.3_Intron|C9orf171_ENST00000393216.2_Intron	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	67								p.A67S(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						TTCGTAGGCTGCCGGCCCGGC	0.512000													21	68					1.2644e-06	1.64553e-06	0.001523	1	0
SEPSECS	51091	broad.mit.edu	37	4	25125605	25125605	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:25125605G>C	ENST00000382103.2	-	11	1526	c.1454C>G	c.(1453-1455)gCt>gGt	p.A485G	SEPSECS_ENST00000302922.3_Missense_Mutation_p.A406G	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	485	SLA/LP epitope.				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	p.A485G(1)|p.A406G(1)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	TAGTTTTAAAGCCATTTCTTC	0.353000													23	88					0	0	0.001882	0	0
UBFD1	56061	broad.mit.edu	37	16	23573999	23573999	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:23573999A>T	ENST00000395878.3	+	5	1065	c.684A>T	c.(682-684)aaA>aaT	p.K228N	UBFD1_ENST00000219638.4_Missense_Mutation_p.K452N|UBFD1_ENST00000567212.1_Missense_Mutation_p.K219N|UBFD1_ENST00000571064.1_3'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	228								p.K228N(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		CTGGAGGAAAAGTGAGACTCA	0.517000													26	58					0	0	0.006320	0	0
ALG13	79868	broad.mit.edu	37	X	110987964	110987964	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:110987964C>A	ENST00000394780.3	+	24	2776	c.2764C>A	c.(2764-2766)Cca>Aca	p.P922T	ALG13_ENST00000251943.4_Intron|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	922	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.P922T(1)		endometrium(2)|lung(10)|skin(1)	13						accaccaccaccaccaccacc	0.517000													3	7					0.004672	0.00526527	0.004672	1	0
GABBR2	9568	broad.mit.edu	37	9	101148007	101148007	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:101148007C>T	ENST00000259455.2	-	11	2036	c.1577G>A	c.(1576-1578)gGa>gAa	p.G526E		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	526					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.G526E(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GAGCATCCCTCCAAGGATGAT	0.393000													6	71					0	0	0.001168	0	0
COL5A2	1290	broad.mit.edu	37	2	189910587	189910587	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:189910587C>A	ENST00000374866.3	-	46	3522	c.3248G>T	c.(3247-3249)gGt>gTt	p.G1083V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1083					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G1083V(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCAGGGGCACCCTGAGAGCC	0.483000													36	71					6.57855e-14	1.0431e-13	0.002222	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3140343	3140343	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:3140343C>T	ENST00000252463.2	-	5	1014	c.927G>A	c.(925-927)gcG>gcA	p.A309A	ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000538082.2_Silent_p.A227A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	309					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCAGCTGGTGCGCCTTCAGGC	0.657000													4	70					0	0	0.000248	0	0
PLXNB1	5364	broad.mit.edu	37	3	48459666	48459666	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:48459666C>A	ENST00000358536.4	-	15	3425	c.3156G>T	c.(3154-3156)gtG>gtT	p.V1052V	PLXNB1_ENST00000358459.4_Silent_p.V869V|PLXNB1_ENST00000296440.6_Silent_p.V1052V|PLXNB1_ENST00000456774.1_Silent_p.V869V|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1052					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.V1052V(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCCCGGGTCACACAACGTG	0.622000													5	23					1.23904e-05	1.54337e-05	0.000602	1	0
NPAS2	4862	broad.mit.edu	37	2	101604708	101604708	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:101604708G>T	ENST00000335681.5	+	17	2082	c.1797G>T	c.(1795-1797)ctG>ctT	p.L599L	NPAS2_ENST00000542504.1_Silent_p.L664L	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	599					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.L599L(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCAGCACCTGCTCAGAGAAT	0.567000													4	108					0.00024832	0.000293302	0.000248	1	0
GABRA4	2557	broad.mit.edu	37	4	46979500	46979500	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:46979500C>T	ENST00000264318.3	-	4	1403	c.421G>A	c.(421-423)Gtc>Atc	p.V141I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	141					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V141I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTATGTGAGACAGATTTCTTT	0.318000													8	47					0	0	0.004482	0	0
GPR32	2854	broad.mit.edu	37	19	51274893	51274893	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:51274893T>C	ENST00000270590.4	+	1	1173	c.1036T>C	c.(1036-1038)Tca>Cca	p.S346P		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	346						integral to plasma membrane	N-formyl peptide receptor activity	p.S346P(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGAGTTTCTGTCATCCTGTCC	0.537000													13	113					0	0	0.001855	0	0
BGN	633	broad.mit.edu	37	X	152770114	152770114	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:152770114T>A	ENST00000331595.4	+	2	211	c.25T>A	c.(25-27)Tct>Act	p.S9T	BGN_ENST00000370204.1_5'UTR|BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	9						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	p.S9T(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCTCGTGTCTCTGCTGGC	0.627000													25	42					0	0	0.003330	0	0
SPAG1	6674	broad.mit.edu	37	8	101196189	101196189	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:101196189A>T	ENST00000388798.2	+	6	685	c.494A>T	c.(493-495)gAc>gTc	p.D165V	SPAG1_ENST00000251809.3_Missense_Mutation_p.D165V|SPAG1_ENST00000520508.1_Missense_Mutation_p.D165V|SPAG1_ENST00000520643.1_Missense_Mutation_p.D165V	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	165					single fertilization	cytoplasm	GTP binding|hydrolase activity	p.D165V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		TTAAGATTTGACGTGGAGAAG	0.279000													20	51					0	0	0.001523	0	0
DUSP26	78986	broad.mit.edu	37	8	33451145	33451145	+	Silent	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:33451145C>G	ENST00000256261.4	-	3	859	c.342G>C	c.(340-342)ctG>ctC	p.L114L	DUSP26_ENST00000523956.1_Silent_p.L114L	NM_024025.1	NP_076930.1	Q9BV47	DUS26_HUMAN	dual specificity phosphatase 26 (putative)	114	Tyrosine-protein phosphatase.					Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L114L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		CCTCAACACCCAGGTAGCGGA	0.662000													21	39					0	0	0.008871	0	0
BOD1L1	259282	broad.mit.edu	37	4	13605874	13605874	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:13605874C>A	ENST00000040738.5	-	10	2785	c.2650G>T	c.(2650-2652)Gat>Tat	p.D884Y		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	884	Lys-rich.						DNA binding	p.D884Y(1)									AAATTACTATCCATGTTAGTG	0.373000													11	71					3.07112e-06	3.90925e-06	0.000978	1	0
ITGAE	3682	broad.mit.edu	37	17	3663536	3663536	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:3663536G>T	ENST00000263087.4	-	7	742	c.644C>A	c.(643-645)cCc>cAc	p.P215H		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	215	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P215H(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AAAGTCTGGGGGATCAATGCT	0.498000													9	38					7.48243e-07	9.89911e-07	0.006214	1	0
CNTN1	1272	broad.mit.edu	37	12	41323638	41323638	+	Silent	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:41323638A>G	ENST00000551295.2	+	7	654	c.537A>G	c.(535-537)gtA>gtG	p.V179V	CNTN1_ENST00000547849.1_Silent_p.V179V|CNTN1_ENST00000547702.1_Silent_p.V179V|CNTN1_ENST00000360099.3_Silent_p.V179V|CNTN1_ENST00000348761.2_Silent_p.V168V|CNTN1_ENST00000347616.1_Silent_p.V179V	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	179	Ig-like C2-type 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.V179V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AATTTCCTGTATTTATCACAA	0.363000													13	67					0	0	0.001368	0	0
PI4KA	5297	broad.mit.edu	37	22	21174084	21174084	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr22:21174084T>C	ENST00000255882.6	-	6	720	c.634A>G	c.(634-636)Atc>Gtc	p.I212V	PI4KA_ENST00000572273.1_Missense_Mutation_p.I154V	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	154					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.I154V(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGAGGAGGGATTTTGGGAAAG	0.507000													70	160					0	0	0.003610	0	0
TJP1	7082	broad.mit.edu	37	15	30024944	30024944	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:30024944G>A	ENST00000346128.6	-	14	2286	c.1812C>T	c.(1810-1812)ttC>ttT	p.F604F	TJP1_ENST00000545208.2_Silent_p.F604F|TJP1_ENST00000356107.6_Silent_p.F604F|TJP1_ENST00000400011.2_Silent_p.F608F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	604	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.F604F(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GAAGACCTCTGAATCTCCAGA	0.453000													23	40					0	0	0.001882	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945715	16945715	+	RNA	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:16945715C>A	ENST00000412962.1	-	0	1804																											GAGTGTGCCACTGCAGGTGGA	0.602000													12	175					1.49906e-05	1.86e-05	0.002450	1	0
SARM1	23098	broad.mit.edu	37	17	26715397	26715397	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:26715397G>T	ENST00000457710.3	+	7	2131	c.1660G>T	c.(1660-1662)Ggc>Tgc	p.G554C	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	588					innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity	p.G586C(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GCAGCTGCATGGCTTCAGTGT	0.582000													14	53					9.05144e-12	1.37059e-11	0.001855	1	0
TRIM42	287015	broad.mit.edu	37	3	140401341	140401341	+	Missense_Mutation	SNP	C	C	A	rs149207203	byFrequency	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:140401341C>A	ENST00000286349.3	+	2	570	c.379C>A	c.(379-381)Cag>Aag	p.Q127K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	127						intracellular	zinc ion binding	p.Q127K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAGCGATACCCAGGTGGATGA	0.562000													19	52					1.2644e-06	1.64553e-06	0.001523	1	0
COL1A2	1278	broad.mit.edu	37	7	94054501	94054501	+	Nonsense_Mutation	SNP	G	G	T	rs72659308		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:94054501G>T	ENST00000297268.6	+	42	3217	c.2746G>T	c.(2746-2748)Gga>Tga	p.G916*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	916					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G916*(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGTAGTCCTGGAGTCAACGG	0.507000										HNSCC(75;0.22)			22	67					2.21704e-12	3.43856e-12	0.002780	1	0
CAMTA2	23125	broad.mit.edu	37	17	4884585	4884585	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:4884585A>G	ENST00000361571.5	-	7	1043	c.632T>C	c.(631-633)aTt>aCt	p.I211T	CAMTA2_ENST00000414043.3_Missense_Mutation_p.I235T|CAMTA2_ENST00000572543.1_Missense_Mutation_p.I217T|CAMTA2_ENST00000348066.3_Missense_Mutation_p.I212T|CAMTA2_ENST00000381311.5_Missense_Mutation_p.I214T|CAMTA2_ENST00000358183.4_Missense_Mutation_p.I212T	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	212					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	p.I212T(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGTGTCCAAAATCTGCTGCAC	0.547000											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	106					0	0	0.003163	0	0
SNX31	169166	broad.mit.edu	37	8	101612589	101612589	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:101612589G>T	ENST00000311812.2	-	9	912	c.762C>A	c.(760-762)gaC>gaA	p.D254E	SNX31_ENST00000428383.2_Missense_Mutation_p.D155E	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	254					cell communication|protein transport		phosphatidylinositol binding	p.D254E(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTGTTTGACTGTCTTCTTTCT	0.368000													6	132					3.59834e-05	4.41331e-05	0.001168	1	0
MUC16	94025	broad.mit.edu	37	19	9091786	9091786	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:9091786G>T	ENST00000397910.4	-	1	232	c.29C>A	c.(28-30)tCa>tAa	p.S10*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S10*(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGAAGATGACCCAGGAAG	0.547000													4	41					1.23904e-05	1.54337e-05	0.000602	1	0
KIAA0513	9764	broad.mit.edu	37	16	85116168	85116168	+	Splice_Site	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:85116168A>G	ENST00000566428.1	+	10	1611		c.e10-1		KIAA0513_ENST00000538274.1_Intron|KIAA0513_ENST00000258180.3_Splice_Site			O60268	K0513_HUMAN	KIAA0513							cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CTGCCGCTCCAGAGGGGATGC	0.512000													3	82					0	0	0.000248	0	0
ASNS	440	broad.mit.edu	37	7	97481664	97481664	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:97481664G>A	ENST00000175506.4	-	14	2121	c.1593C>T	c.(1591-1593)gaC>gaT	p.D531D	ASNS_ENST00000394309.3_Silent_p.D531D|ASNS_ENST00000422745.1_Silent_p.D510D|ASNS_ENST00000455086.1_Silent_p.D448D|ASNS_ENST00000444334.1_Silent_p.D510D|ASNS_ENST00000394308.3_Silent_p.D531D|ASNS_ENST00000437628.1_Silent_p.D448D	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	531	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding	p.D531D(1)		ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCTCAGCCAGTCAGCCCGGC	0.507000													22	72					0	0	0.001882	0	0
UGT1A8	54576	broad.mit.edu	37	2	234526902	234526902	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:234526902C>T	ENST00000373450.4	+	1	612	c.549C>T	c.(547-549)tgC>tgT	p.C183C		NM_019076.4	NP_061949.3												p.C183C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTGCACAGTGCCCTGCTCCTC	0.493000													37	353					0	0	0.006999	0	0
OTOGL	283310	broad.mit.edu	37	12	80729818	80729818	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:80729818T>C	ENST00000458043.2	+	38	4477	c.4471T>C	c.(4471-4473)Tcc>Ccc	p.S1491P	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1479P	NM_173591.3	NP_775862.3			otogelin-like									p.S1491P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ATACAACTGGTCCCTTAATTG	0.428000													9	54					0	0	0.008291	0	0
LPHN3	23284	broad.mit.edu	37	4	62845477	62845477	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:62845477G>A	ENST00000512091.1	+	17	3545	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q	LPHN3_ENST00000508946.1_Missense_Mutation_p.R933Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R1001Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R933Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R933Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R933Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R1001Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R1001Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R1001Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.R933Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R933Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R933Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R1001Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R1001Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R1001Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	920					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R933Q(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGGATCAACCGAACTGACCAA	0.443000													14	136					0	0	0.004007	0	0
TGFBR1	7046	broad.mit.edu	37	9	101907147	101907147	+	Silent	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:101907147A>G	ENST00000374994.4	+	6	1224	c.1107A>G	c.(1105-1107)ccA>ccG	p.P369P	TGFBR1_ENST00000374990.2_Silent_p.P292P|TGFBR1_ENST00000550253.1_Silent_p.P300P|TGFBR1_ENST00000552516.1_Silent_p.P373P	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	369	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.P369P(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ATATTGCTCCAAACCACAGAG	0.343000													7	79					0	0	0.001984	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599628	136599628	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:136599628G>A	ENST00000531224.1	-	4	643	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	BCLAF1_ENST00000392348.2_Missense_Mutation_p.R129W|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R131W|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R129W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R131W|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R129W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	131					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R131W(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTATATGACCGGCGAGATCTG	0.453000													50	356					0	0	0.003610	0	0
CSMD2	114784	broad.mit.edu	37	1	34258067	34258067	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:34258067C>T	ENST00000373381.4	-	11	1683	c.1507G>A	c.(1507-1509)Ggt>Agt	p.G503S	CSMD2_ENST00000338325.1_Missense_Mutation_p.G111S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	463	CUB 3.					integral to membrane|plasma membrane	protein binding	p.G463S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACCATCACCGACCGTCAGG	0.572000													30	65					0	0	0.002096	0	0
ZNF596	169270	broad.mit.edu	37	8	195623	195623	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:195623C>A	ENST00000398612.1	+	6	1159	c.776C>A	c.(775-777)gCc>gAc	p.A259D	ZNF596_ENST00000320552.2_Missense_Mutation_p.A189D|ZNF596_ENST00000308811.4_Missense_Mutation_p.A259D	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A259D(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGTGGGAAAGCCTTCAGTAAA	0.418000													10	75					0.000442599	0.000517987	0.006214	1	0
DLX1	1745	broad.mit.edu	37	2	172952820	172952820	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:172952820C>T	ENST00000361725.4	+	3	1055	c.603C>T	c.(601-603)aaC>aaT	p.N201N	DLX1_ENST00000550686.1_3'UTR|DLX1_ENST00000341900.6_3'UTR	NM_178120.4	NP_835221.2	P56177	DLX1_HUMAN	distal-less homeobox 1	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.N201N(1)		central_nervous_system(1)|lung(4)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CGTTGGCCAACGGTCGGGCCC	0.612000													29	147					0	0	0.006320	0	0
KERA	11081	broad.mit.edu	37	12	91449625	91449625	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:91449625T>C	ENST00000266719.3	-	2	681	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	145					response to stimulus|visual perception	proteinaceous extracellular matrix		p.E145G(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTGTAATTGTTCTAAACTTCT	0.403000													14	148					0	0	0.002450	0	0
GPR174	84636	broad.mit.edu	37	X	78426925	78426925	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:78426925G>T	ENST00000276077.1	+	1	457	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	141						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.G141C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAGCATTGCTGGCTGGCTGAT	0.473000										HNSCC(63;0.18)			17	193					1.45105e-14	2.32386e-14	0.006122	1	0
NBPF1	55672	broad.mit.edu	37	1	16890539	16890539	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:16890539G>A	ENST00000430580.2	-	29	4206	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1087	NBPF 7.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGATGTGCTGTTCCTCAAAT	0.453000													19	1583					0	0	0.001984	0	0
SNUPN	10073	broad.mit.edu	37	15	75902273	75902273	+	Silent	SNP	G	G	A	rs139633458		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:75902273G>A	ENST00000371091.5	-	5	944	c.492C>T	c.(490-492)gtC>gtT	p.V164V	SNUPN_ENST00000308588.5_Silent_p.V122V|SNUPN_ENST00000564644.1_Silent_p.V122V|SNUPN_ENST00000564675.1_Silent_p.V122V|SNUPN_ENST00000567134.1_Silent_p.V122V			O95149	SPN1_HUMAN	snurportin 1	122					ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding	p.V122V(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CAGGGCACACGACCACAATCC	0.502000													6	60					0	0	0.001984	0	0
ULK1	8408	broad.mit.edu	37	12	132401562	132401562	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:132401562G>T	ENST00000321867.4	+	21	2488	c.2137G>T	c.(2137-2139)Gac>Tac	p.D713Y		NM_003565.2	NP_003556.1	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	713					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.D713Y(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACAAGCCCCGGACCCGGGCAG	0.677000													29	68					5.45727e-16	8.80605e-16	0.008361	1	0
RNF40	9810	broad.mit.edu	37	16	30776581	30776581	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:30776581G>A	ENST00000324685.6	+	7	1286	c.851G>A	c.(850-852)tGg>tAg	p.W284*	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000563683.1_Nonsense_Mutation_p.W284*|RNF40_ENST00000357890.5_Nonsense_Mutation_p.W284*	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	284					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GACTTGCAGTGGGACATCGAG	0.577000													4	72					0	0	0.000248	0	0
GRID2	2895	broad.mit.edu	37	4	94690490	94690490	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:94690490C>A	ENST00000282020.4	+	15	2748	c.2490C>A	c.(2488-2490)agC>agA	p.S830R	GRID2_ENST00000510992.1_Missense_Mutation_p.S735R	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	830					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.S830R(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACATAAAGAGCTTTGCAGGGG	0.532000													23	69					3.08376e-08	4.30245e-08	0.003330	1	0
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:7577108C>A	ENST00000420246.2	-	8	962	c.830G>T	c.(829-831)tGt>tTt	p.C277F	TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F|TP53_ENST00000359597.4_Missense_Mutation_p.C277F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and 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.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTCCCAGGACAGGCACAAAC	0.547000		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)			13	37					5.50884e-06	6.97059e-06	0.001368	1	0
PRDM14	63978	broad.mit.edu	37	8	70971045	70971045	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:70971045C>A	ENST00000276594.2	-	6	1417	c.1216G>T	c.(1216-1218)Ggg>Tgg	p.G406W		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G406W(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AATACCTTCCCACATCTTTCA	0.438000													13	71					0.00244969	0.00277545	0.002450	1	0
SGTA	6449	broad.mit.edu	37	19	2762622	2762622	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:2762622T>C	ENST00000221566.2	-	7	679	c.518A>G	c.(517-519)aAc>aGc	p.N173S		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	173					interspecies interaction between organisms	cytoplasm	protein binding	p.N173S(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		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)		CACGTGCTTGTTGAGGCTGGA	0.627000													24	181					0	0	0.003330	0	0
DCHS2	54798	broad.mit.edu	37	4	155219801	155219801	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:155219801G>T	ENST00000357232.3	-	18	4299	c.4300C>A	c.(4300-4302)Cgt>Agt	p.R1434S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1434	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1434S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCAAAGCACGAGTGGTTGAG	0.393000													5	90					0.000602214	0.000697129	0.000602	1	0
ZNF286B	729288	broad.mit.edu	37	17	18566444	18566444	+	Silent	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:18566444T>G	ENST00000545289.1	-	5	625	c.375A>C	c.(373-375)tcA>tcC	p.S125S		NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S125S(2)		endometrium(1)|lung(1)	2						AATCTTGCACTGAAGTTGAAT	0.413000													4	67					0	0	0.000248	0	0
PDE4B	5142	broad.mit.edu	37	1	66713283	66713283	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:66713283A>T	ENST00000423207.2	+	2	862	c.377A>T	c.(376-378)gAc>gTc	p.D126V	PDE4B_ENST00000371049.3_Missense_Mutation_p.D141V|PDE4B_ENST00000329654.4_Missense_Mutation_p.D141V	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	141					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.D141V(1)|p.D126V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TCAGACAGCGACTATGACTTG	0.527000													25	132					0	0	0.003954	0	0
PPOX	5498	broad.mit.edu	37	1	161138875	161138875	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:161138875C>T	ENST00000367999.4	+	7	975	c.709C>T	c.(709-711)Cct>Tct	p.P237S	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.P237S	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	237					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	p.P237S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGAGATGTTGCCTCAGGCCCT	0.627000													52	91					0	0	0.003610	0	0
FTL	2512	broad.mit.edu	37	19	49469978	49469978	+	Missense_Mutation	SNP	C	C	G	rs1803580		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:49469978C>G	ENST00000331825.6	+	4	721	c.514C>G	c.(514-516)Ctc>Gtc	p.L172V		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	172					cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity	p.L172V(1)		cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	AAGGCTCACTCTCAAGCACGA	0.567000													4	107					0	0	0.000248	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938683	2938683	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:2938683G>A	ENST00000378404.2	+	1	638	c.433G>A	c.(433-435)Gct>Act	p.A145T		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	145						cytoplasm|cytoskeleton		p.A145T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGCGGTGCTGGCTCTCTACGC	0.632000													8	52					0	0	0.003080	0	0
TPO	7173	broad.mit.edu	37	2	1499813	1499813	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:1499813G>T	ENST00000345913.4	+	12	2150	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*	TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Nonsense_Mutation_p.E514*|TPO_ENST00000382201.3_Nonsense_Mutation_p.E630*|TPO_ENST00000349624.3_Nonsense_Mutation_p.E514*|TPO_ENST00000346956.3_Nonsense_Mutation_p.E687*|TPO_ENST00000337415.3_Nonsense_Mutation_p.E687*|TPO_ENST00000329066.4_Nonsense_Mutation_p.E687*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	687					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.E687*(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCGTGAGCTGGAGAAGCACTC	0.562000													11	22					2.68362e-12	4.15214e-12	0.001368	1	0
TBC1D5	9779	broad.mit.edu	37	3	17208305	17208305	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:17208305C>A	ENST00000253692.7	-	21	3712	c.2048G>T	c.(2047-2049)gGc>gTc	p.G683V	TBC1D5_ENST00000429383.4_Missense_Mutation_p.G683V|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.G705V	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	683						intracellular	protein binding|Rab GTPase activator activity	p.G683V(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						TTGGCCTCGGCCCTGGCCCTG	0.522000													23	58					1.9806e-07	2.68705e-07	0.002299	1	0
GATA4	2626	broad.mit.edu	37	8	11606502	11606502	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:11606502G>T	ENST00000335135.4	+	3	1249	c.691G>T	c.(691-693)Gat>Tat	p.D231Y	GATA4_ENST00000528712.1_Missense_Mutation_p.D25Y|GATA4_ENST00000532059.1_Missense_Mutation_p.D232Y	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	231					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.D231Y(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTGGAGGCGAGATGGGACGGG	0.577000													12	143					0.00010058	0.000120809	0.001368	1	0
NAB2	4665	broad.mit.edu	37	12	57485457	57485457	+	Silent	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:57485457T>C	ENST00000300131.3	+	2	1011	c.633T>C	c.(631-633)ccT>ccC	p.P211P	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.P211P|NAB2_ENST00000357680.4_Silent_p.P211P	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	211					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.P211P(3)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTCCCCCCCTGCAGGGGGAG	0.711000													5	39					0	0	0.001984	0	0
MIR513A1	574509	broad.mit.edu	37	X	146294989	146294989	+	RNA	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:146294989A>G	ENST00000385138.1	-	0	120					NR_030231.1																						cagggacaccacatatgcagt	0.478000													4	96					0	0	0.000248	0	0
ALAS1	211	broad.mit.edu	37	3	52236729	52236729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:52236729G>T	ENST00000394965.2	+	4	766	c.406G>T	c.(406-408)Gaa>Taa	p.E136*	ALAS1_ENST00000310271.2_Nonsense_Mutation_p.E136*|ALAS1_ENST00000484952.1_Nonsense_Mutation_p.E136*|ALAS1_ENST00000469224.1_Nonsense_Mutation_p.E136*	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	136					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.E136*(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GGATGTGCAGGAAATGAATGC	0.488000													14	47					1.5842e-08	2.23467e-08	0.001855	1	0
CES1	1066	broad.mit.edu	37	16	55862795	55862795	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:55862795C>A	ENST00000422046.2	-	2	422	c.141G>T	c.(139-141)gtG>gtT	p.V47V	CES1_ENST00000361503.4_Silent_p.V47V|CES1_ENST00000360526.3_Silent_p.V48V			P23141	EST1_HUMAN	carboxylesterase 1	47					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.V48V(1)							all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGAAAATGGCCACAGGCTGTG	0.567000													21	79					4.63292e-17	7.55214e-17	0.008871	1	0
OTOGL	283310	broad.mit.edu	37	12	80658807	80658807	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:80658807A>T	ENST00000458043.2	+	19	2020	c.2014A>T	c.(2014-2016)Atc>Ttc	p.I672F	OTOGL_ENST00000547103.1_Missense_Mutation_p.I672F	NM_173591.3	NP_775862.3			otogelin-like									p.I672F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CTGTGATGTCATCCACCAGGA	0.468000													96	182					0	0	0.003610	0	0
F8	2157	broad.mit.edu	37	X	154157322	154157322	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:154157322C>A	ENST00000360256.4	-	14	4943	c.4743G>T	c.(4741-4743)ttG>ttT	p.L1581F		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1581	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.L1581F(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CAAGAGGATCCAATAGCTTGG	0.433000													161	240					4.58859e-59	8.47431e-59	0.003610	1	0
TBC1D5	9779	broad.mit.edu	37	3	17299997	17299997	+	Splice_Site	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:17299997C>A	ENST00000253692.7	-	16	2996		c.e16+1		TBC1D5_ENST00000429383.4_Splice_Site|TBC1D5_ENST00000414318.2_Splice_Site|TBC1D5_ENST00000446818.2_Splice_Site|TBC1D5_ENST00000429924.2_Splice_Site	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5							intracellular	protein binding|Rab GTPase activator activity	p.?(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGGGGACTTACCGGCTTTTAT	0.333000													57	187					6.60958e-23	1.14149e-22	0.003610	1	0
RGPD4	285190	broad.mit.edu	37	2	108489238	108489238	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:108489238C>G	ENST00000408999.3	+	20	4855	c.4778C>G	c.(4777-4779)tCt>tGt	p.S1593C	RGPD4_ENST00000354986.4_Missense_Mutation_p.S1593C	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1593					intracellular transport		binding	p.S1593C(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGAGTGGATCTGAAAGCAAA	0.383000													16	492					0	0	0.006122	0	0
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	by1000genomes	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr13:25161397C>G	ENST00000453498.1	+	0	921																											TGAAACATCTCTACAACTGGA	0.343000													3	50					0	0	0.000248	0	0
EFHB	151651	broad.mit.edu	37	3	19938246	19938246	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:19938246T>C	ENST00000295824.9	-	9	1819	c.1658A>G	c.(1657-1659)cAt>cGt	p.H553R	EFHB_ENST00000344838.4_Missense_Mutation_p.H423R|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	553					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.H553R(1)|p.H551R(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTTCAGGTGATGCCGAACTGC	0.458000													21	71					0	0	0.003330	0	0
VPRBP	9730	broad.mit.edu	37	3	51475837	51475837	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:51475837C>A	ENST00000335891.5	-	6	599	c.590G>T	c.(589-591)aGt>aTt	p.S197I				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	197					interspecies interaction between organisms	cytoplasm|nucleus	protein binding	p.S197I(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		CTTCCGTGGACTGGGACGCTT	0.498000													70	228					2.40041e-21	4.07942e-21	0.003610	1	0
GPC4	2239	broad.mit.edu	37	X	132548853	132548853	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:132548853G>A	ENST00000370828.3	-	1	665	c.141C>T	c.(139-141)gcC>gcT	p.A47A		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	47					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.A47A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CGTGGAGGGGGGCATCGTTCT	0.637000													13	188					0	0	0.003163	0	0
FIBCD1	84929	broad.mit.edu	37	9	133799190	133799190	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:133799190G>T	ENST00000372338.4	-	4	1032	c.790C>A	c.(790-792)Cac>Aac	p.H264N	FIBCD1_ENST00000448616.1_Missense_Mutation_p.H264N|FIBCD1_ENST00000372337.2_Missense_Mutation_p.H106N|FIBCD1_ENST00000253018.4_Missense_Mutation_p.H106N	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	264	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	p.H264N(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCCGGGTAGTGGGTGGGAAAG	0.687000													15	57					2.31682e-05	2.84702e-05	0.003163	1	0
CENPI	2491	broad.mit.edu	37	X	100403107	100403107	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:100403107A>T	ENST00000372927.1	+	19	2328	c.2051A>T	c.(2050-2052)cAt>cTt	p.H684L	CENPI_ENST00000218507.5_Missense_Mutation_p.H684L|CENPI_ENST00000423383.1_Missense_Mutation_p.H684L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	684					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.H684L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						AATGTAGTCCATCATCCTTCT	0.353000													6	204					0	0	0.003080	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69362415	69362415	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:69362415G>T	ENST00000305363.4	+	10	1229	c.1165G>T	c.(1165-1167)Gct>Tct	p.A389S		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	389	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.A389S(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTGGTACCTTGCTGGAATAGT	0.438000													76	431					3.78398e-24	6.62456e-24	0.003610	1	0
GBP6	163351	broad.mit.edu	37	1	89846073	89846073	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:89846073G>A	ENST00000370456.4	+	6	847	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	GBP6_ENST00000535065.1_Missense_Mutation_p.V122M	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	252							GTP binding|GTPase activity	p.V252M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TATTGAGAAGGTGTCAGAAAA	0.438000													7	48					0	0	0.001984	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912693	77912693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:77912693C>A	ENST00000321110.1	-	2	1520	c.1225G>T	c.(1225-1227)Gga>Tga	p.G409*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	409							nucleic acid binding|zinc ion binding	p.G409*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGTCCATCTCCCTCTGCAGAG	0.527000													14	98					7.93312e-07	1.04306e-06	0.002450	1	0
SDK2	54549	broad.mit.edu	37	17	71394502	71394502	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:71394502G>T	ENST00000392650.3	-	23	3160	c.3160C>A	c.(3160-3162)Cgc>Agc	p.R1054S	SDK2_ENST00000388726.3_Missense_Mutation_p.R1054S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1054	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1054S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCCATGGAGCGGGCATCGGGC	0.642000													27	92					1.12875e-08	1.59574e-08	0.006320	1	0
HLA-DRA	3122	broad.mit.edu	37	6	32411567	32411567	+	Silent	SNP	A	A	T	rs58547911		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:32411567A>T	ENST00000395388.2	+	4	754	c.645A>T	c.(643-645)acA>acT	p.T215T	HLA-DRA_ENST00000374982.5_Silent_p.T190T	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	215	Connecting peptide.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.T215T(1)		NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						CAGAGACTACAGAGAACGTGG	0.502000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				7	235					0	0	0.003080	0	0
ZYX	7791	broad.mit.edu	37	7	143080351	143080351	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:143080351G>T	ENST00000322764.5	+	5	1304	c.959G>T	c.(958-960)aGg>aTg	p.R320M	ZYX_ENST00000449423.2_Missense_Mutation_p.R233M|ZYX_ENST00000392910.2_Missense_Mutation_p.R163M	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	320					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	p.R320M(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GCCCAGCAGAGGGAGAAGCCC	0.592000													29	73					1.32181e-22	2.27053e-22	0.007291	1	0
ACAP3	116983	broad.mit.edu	37	1	1237394	1237394	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:1237394C>A	ENST00000354700.5	-	5	514	c.312G>T	c.(310-312)cgG>cgT	p.R104R	ACAP3_ENST00000353662.3_Silent_p.R62R	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	104					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.R104R(1)|p.R62R(1)		endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGCTGCTGCCGCACGGACC	0.652000													4	90					5.9392e-07	7.92307e-07	0.001168	1	0
GPRASP1	9737	broad.mit.edu	37	X	101912716	101912716	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:101912716C>A	ENST00000537097.1	+	6	4688	c.3875C>A	c.(3874-3876)aCa>aAa	p.T1292K	GPRASP1_ENST00000361600.5_Missense_Mutation_p.T1292K|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.T1292K|GPRASP1_ENST00000415986.1_Missense_Mutation_p.T1292K	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1292	OPRD1-binding.					cytoplasm	protein binding	p.T1292K(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATGCCAAAACAAGGTTTCAT	0.378000													7	107					1.6384e-10	2.39574e-10	0.001984	1	0
HECW1	23072	broad.mit.edu	37	7	43590144	43590144	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:43590144G>A	ENST00000395891.1	+	27	4954	c.4349G>A	c.(4348-4350)cGc>cAc	p.R1450H	HECW1_ENST00000453890.1_Missense_Mutation_p.R1416H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1450	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R1450H(1)|p.R1429H(1)		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						CGGGTGGAGCGCGGCGTGGTA	0.627000													9	20					0	0	0.004482	0	0
NXPH2	11249	broad.mit.edu	37	2	139429037	139429037	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:139429037G>T	ENST00000272641.3	-	2	356	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	84	II.				neuropeptide signaling pathway	extracellular region		p.L84M(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		ATGTTGGCCAGCCAATCCCAA	0.493000													73	76					3.76054e-38	6.78809e-38	0.003610	1	0
WFIKKN2	124857	broad.mit.edu	37	17	48917075	48917075	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:48917075C>A	ENST00000311378.4	+	2	954	c.426C>A	c.(424-426)ccC>ccA	p.P142P	WFIKKN2_ENST00000426127.1_Silent_p.P49P	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	142	Kazal-like.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	p.S143G(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGAAGGAGCCCAGCTTTACCT	0.582000													10	42					5.50884e-06	6.97059e-06	0.001368	1	0
CHL1	10752	broad.mit.edu	37	3	447226	447226	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:447226G>T	ENST00000256509.2	+	28	4149	c.3507G>T	c.(3505-3507)agG>agT	p.R1169S	CHL1_ENST00000397491.2_Missense_Mutation_p.R1153S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1153					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.R1169I(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CCCTTAATAGGGATATGCAGC	0.408000													10	57					1.08611e-07	1.48295e-07	0.000978	1	0
TFAP2D	83741	broad.mit.edu	37	6	50718973	50718973	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:50718973C>A	ENST00000008391.3	+	7	1303	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	359	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity	p.L359M(1)		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)					TAGATCACCACTGGGATCCTC	0.348000													29	36					2.80507e-11	4.19775e-11	0.002445	1	0
ZFHX4	79776	broad.mit.edu	37	8	77765759	77765759	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:77765759C>T	ENST00000521891.2	+	10	7050	c.6602C>T	c.(6601-6603)aCg>aTg	p.T2201M	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2175M|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2156M|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2156M	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2156						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T2185M(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTATAACGGTTTTAGAA	0.358000										HNSCC(33;0.089)			10	229					0	0	0.001368	0	0
CR1	1378	broad.mit.edu	37	1	207751547	207751547	+	Splice_Site	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:207751547G>T	ENST00000367049.4	+	29	4935	c.4936_splice	c.e29+1	p.R1645_splice	CR1_ENST00000367053.1_Splice_Site_p.R1195_splice|CR1_ENST00000367051.1_Splice_Site_p.R1195_splice|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Splice_Site_p.R1195_splice|CR1_ENST00000367052.1_Splice_Site_p.R1195_splice|RP11-78B10.2_ENST00000596003.1_RNA	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1195	Sushi 25.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1200S(1)|p.R1645S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTGCTCCAGGGGTGAGTCTG	0.537000													15	194					1.3612e-06	1.76075e-06	0.003163	1	0
KIAA0430	9665	broad.mit.edu	37	16	15696062	15696062	+	Splice_Site	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:15696062T>C	ENST00000396368.3	-	23	4620		c.e23-2		KIAA0430_ENST00000551742.1_Splice_Site|KIAA0430_ENST00000548025.1_Splice_Site|KIAA0430_ENST00000602337.1_Splice_Site|KIAA0430_ENST00000540441.2_Splice_Site|KIAA0430_ENST00000547936.1_Splice_Site|KIAA0430_ENST00000344181.3_Splice_Site	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430							peroxisome	nucleotide binding|RNA binding	p.?(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGTGAAAACCTGGTTAAAAAG	0.438000													6	152					0	0	0.001168	0	0
RYR1	6261	broad.mit.edu	37	19	38991553	38991553	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:38991553G>C	ENST00000355481.4	+	47	7668	c.7537G>C	c.(7537-7539)Gag>Cag	p.E2513Q	RYR1_ENST00000359596.3_Missense_Mutation_p.E2513Q|RYR1_ENST00000360985.3_Missense_Mutation_p.E2513Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2513	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.E2513Q(1)|p.E2513*(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTATGGCATCGAGAACCAGGA	0.632000													14	33					0	0	0.001855	0	0
MEP1A	4224	broad.mit.edu	37	6	46794188	46794188	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:46794188G>A	ENST00000230588.4	+	9	885	c.876G>A	c.(874-876)caG>caA	p.Q292Q		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	292	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.Q292Q(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GGGCCCATCAGGACAGTGCTC	0.493000													20	83					0	0	0.008871	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253732	32253732	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr21:32253732C>A	ENST00000332378.4	-	1	142	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	38						keratin filament	structural molecule activity	p.G38C(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CAGATGCCGCCCAGGCAGTCA	0.567000													35	60					1.45844e-13	2.28978e-13	0.002836	1	0
SLC45A2	51151	broad.mit.edu	37	5	33964062	33964062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:33964062C>A	ENST00000382102.3	-	3	679	c.622G>T	c.(622-624)Gga>Tga	p.G208*	SLC45A2_ENST00000509381.1_Intron|SLC45A2_ENST00000296589.4_Nonsense_Mutation_p.G208*|SLC45A2_ENST00000345083.5_Intron|SLC45A2_ENST00000342059.3_Nonsense_Mutation_p.G149*	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	208					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		p.G208*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AACAGTCTTCCCAGCTCCAGA	0.458000													18	69					8.00594e-06	1.01103e-05	0.007413	1	0
KCNH8	131096	broad.mit.edu	37	3	19575253	19575253	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:19575253T>A	ENST00000328405.2	+	16	3252	c.2986T>A	c.(2986-2988)Tcc>Acc	p.S996T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	996	Ser-rich.					integral to membrane	two-component sensor activity	p.S996T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TTATTCACCTTCCCACTACCA	0.478000													14	247					0	0	0.002450	0	0
CDHR3	222256	broad.mit.edu	37	7	105662683	105662683	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:105662683G>T	ENST00000542731.1	+	14	1973	c.1865G>T	c.(1864-1866)gGt>gTt	p.G622V	CDHR3_ENST00000478080.1_Missense_Mutation_p.G534V|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.G622V|CDHR3_ENST00000343407.5_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	622	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G622V(2)		breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCCAATGCTGGTTCCAATGTC	0.428000													43	141					1.15505e-17	1.89737e-17	0.002222	1	0
SLCO1B1	10599	broad.mit.edu	37	12	21331534	21331534	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:21331534A>G	ENST00000256958.2	+	6	602	c.506A>G	c.(505-507)tAc>tGc	p.Y169C		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	169					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.Y169C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TCTGGGTCATACATGTGGATA	0.333000													27	63					0	0	0.005443	0	0
C2orf70	339778	broad.mit.edu	37	2	26798827	26798827	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:26798827C>A	ENST00000409392.1	+	3	196	c.94C>A	c.(94-96)Cac>Aac	p.H32N	C2orf70_ENST00000329615.3_Silent_p.T44T			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	150								p.T44T(1)		breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						ACGGCACCACCACCCTCAAGT	0.617000													13	89					4.3838e-07	5.87264e-07	0.001855	1	0
NSA2	10412	broad.mit.edu	37	5	74065115	74065115	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:74065115C>G	ENST00000296802.5	+	3	637	c.268C>G	c.(268-270)Ctg>Gtg	p.L90V	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	90	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ACCTGCCTATCTGCTGGACAG	0.383000													4	195					0	0	0.000248	0	0
DPYD	1806	broad.mit.edu	37	1	97981448	97981448	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:97981448T>C	ENST00000370192.3	-	13	1674	c.1574A>G	c.(1573-1575)tAc>tGc	p.Y525C		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	525					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.Y525C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AATAGGAGTGTAAAAGAGGGG	0.413000													23	42					0	0	0.002299	0	0
SARDH	1757	broad.mit.edu	37	9	136582532	136582532	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:136582532C>A	ENST00000371872.4	-	8	1323	c.1066G>T	c.(1066-1068)Gtg>Ttg	p.V356L	SARDH_ENST00000439388.1_Missense_Mutation_p.V356L|SARDH_ENST00000422262.2_Missense_Mutation_p.V188L	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	356					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.V356L(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGGTGAACACCTCCCAGTCC	0.597000													11	57					6.40141e-05	7.77662e-05	0.000978	1	0
IL37	27178	broad.mit.edu	37	2	113671403	113671403	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:113671403C>A	ENST00000263326.3	+	2	159	c.117C>A	c.(115-117)agC>agA	p.S39R	IL37_ENST00000352179.3_Intron|IL37_ENST00000349806.3_Intron|IL37_ENST00000353225.3_Missense_Mutation_p.S39R	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	39					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding	p.S39R(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CAGGCCCAAGCCTCCCCACCA	0.567000													5	47					0.000602214	0.000697129	0.000602	1	0
NKD2	85409	broad.mit.edu	37	5	1037955	1037955	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:1037955G>T	ENST00000296849.5	+	10	1052	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_Intron	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	275					exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.G275C(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GGAGCCCCAGGGCAGGGCCTC	0.652000													22	53					7.41877e-09	1.05113e-08	0.001882	1	0
RYR2	6262	broad.mit.edu	37	1	237951363	237951363	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:237951363C>A	ENST00000366574.2	+	92	13721	c.13404C>A	c.(13402-13404)caC>caA	p.H4468Q	RYR2_ENST00000360064.6_Missense_Mutation_p.H4474Q|RYR2_ENST00000542537.1_Missense_Mutation_p.H4452Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4468					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H4466Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCACACACACAGATACGGAG	0.378000													12	25					4.3838e-07	5.87264e-07	0.001855	1	0
XKRX	402415	broad.mit.edu	37	X	100182991	100182991	+	Silent	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:100182991A>G	ENST00000328526.5	-	1	907	c.342T>C	c.(340-342)ttT>ttC	p.F114F	XKRX_ENST00000468904.1_Silent_p.F101F|XKRX_ENST00000372956.2_Silent_p.F101F	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	101						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TTAGATGCATAAATAATGATA	0.408000													3	129					0	0	0.004672	0	0
ZYX	7791	broad.mit.edu	37	7	143080397	143080397	+	Silent	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:143080397G>C	ENST00000322764.5	+	5	1350	c.1005G>C	c.(1003-1005)ccG>ccC	p.P335P	ZYX_ENST00000449423.2_Silent_p.P248P|ZYX_ENST00000392910.2_Silent_p.P178P	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	335					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	p.P335P(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGCCCCCACCGGCTCAGAACC	0.617000													15	48					0	0	0.002450	0	0
KIF1B	23095	broad.mit.edu	37	1	10363641	10363641	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:10363641G>A	ENST00000377093.4	+	21	2551	c.2398G>A	c.(2398-2400)Gat>Aat	p.D800N	KIF1B_ENST00000377083.1_Missense_Mutation_p.D800N|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.D800N(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGGTGTTGGGGATGAGAAGAT	0.517000													5	84					0	0	0.000602	0	0
PKD1	5310	broad.mit.edu	37	16	2159381	2159381	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:2159381C>A	ENST00000262304.4	-	15	5995	c.5787G>T	c.(5785-5787)gaG>gaT	p.E1929D	PKD1_ENST00000423118.1_Missense_Mutation_p.E1929D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1929	PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.E1929V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGGGGAGCACCTCGGGGTTGG	0.701000													8	29					0.000274275	0.000323361	0.004482	1	0
DGKB	1607	broad.mit.edu	37	7	14188795	14188795	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:14188795G>T	ENST00000403951.2	-	26	2795	c.2376C>A	c.(2374-2376)tgC>tgA	p.C792*	DGKB_ENST00000258767.5_Nonsense_Mutation_p.C792*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.C773*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.C792*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.C784*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.C791*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	792					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.C792*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGACGAGGGAGCAGAATAAAC	0.418000													62	140					2.26907e-38	4.10746e-38	0.003610	1	0
LRFN2	57497	broad.mit.edu	37	6	40399507	40399507	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:40399507A>C	ENST00000338305.6	-	2	1888	c.1346T>G	c.(1345-1347)gTg>gGg	p.V449G		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	449	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane		p.V449G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTACATCTTCACCCGGGGTGC	0.597000													20	41					0	0	0.008871	0	0
ZNF77	58492	broad.mit.edu	37	19	2934603	2934603	+	Silent	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:2934603G>C	ENST00000314531.4	-	4	614	c.522C>G	c.(520-522)ctC>ctG	p.L174L		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding	p.L174L(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTGGCAGGAGAGGCAGCTGC	0.517000													6	208					0	0	0.001984	0	0
C2orf16	84226	broad.mit.edu	37	2	27801985	27801985	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:27801985G>A	ENST00000408964.2	+	1	2597	c.2546G>A	c.(2545-2547)cGa>cAa	p.R849Q		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	849								p.R849Q(2)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TGGAGATCACGATCTAGGACA	0.478000													5	123					0	0	0.000602	0	0
ZNF485	220992	broad.mit.edu	37	10	44112635	44112635	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:44112635T>C	ENST00000361807.3	+	5	1338	c.1144T>C	c.(1144-1146)Tat>Cat	p.Y382H	ZNF485_ENST00000374437.2_Missense_Mutation_p.Y291H|ZNF485_ENST00000374435.3_Missense_Mutation_p.Y382H	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y343H(1)|p.Y382H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGAAAAACCCTATCACTGTAA	0.433000													4	83					0	0	0.000248	0	0
POLR3A	11128	broad.mit.edu	37	10	79773421	79773421	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:79773421A>T	ENST00000372371.3	-	11	1696	c.1559T>A	c.(1558-1560)cTt>cAt	p.L520H	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	520					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.L520H(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CATCAGAACAAGGGCCTCTGC	0.438000													7	161					0	0	0.001984	0	0
PKD1	5310	broad.mit.edu	37	16	2159382	2159382	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:2159382T>A	ENST00000262304.4	-	15	5994	c.5786A>T	c.(5785-5787)gAg>gTg	p.E1929V	PKD1_ENST00000423118.1_Missense_Mutation_p.E1929V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1929	PKD 15.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.E1929V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGGAGCACCTCGGGGTTGGC	0.697000													8	29					0	0	0.004482	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107460416	107460416	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:107460416C>A	ENST00000409382.3	-	2	628	c.18G>T	c.(16-18)aaG>aaT	p.K6N	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.K6N|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.K6N	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	6					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.K6N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTCTCCATTGCTTCAAGTGTG	0.493000													30	52					5.77227e-19	9.60542e-19	0.008361	1	0
RAD51C	5889	broad.mit.edu	37	17	56774181	56774181	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:56774181C>T	ENST00000337432.4	+	3	603	c.532C>T	c.(532-534)Cag>Tag	p.Q178*	RAD51C_ENST00000583539.1_Nonsense_Mutation_p.Q178*|RAD51C_ENST00000487921.1_3'UTR	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	178					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.Q178*(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCTGCATTCAGCACCTTCA	0.388000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				13	112					0	0	0.003163	0	0
GPR112	139378	broad.mit.edu	37	X	135430861	135430861	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:135430861G>T	ENST00000394143.1	+	6	5287	c.4996G>T	c.(4996-4998)Ggg>Tgg	p.G1666W	GPR112_ENST00000370652.1_Missense_Mutation_p.G1666W|GPR112_ENST00000287534.4_Missense_Mutation_p.G1603W|GPR112_ENST00000412101.1_Missense_Mutation_p.G1461W|GPR112_ENST00000394141.1_Missense_Mutation_p.G1461W	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1666					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G1666W(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTATGGCTGGGATAGTGAC	0.473000													45	345					1.32667e-27	2.37463e-27	0.003610	1	0
RHCG	51458	broad.mit.edu	37	15	90019991	90019991	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:90019991A>G	ENST00000268122.4	-	9	1374	c.1306T>C	c.(1306-1308)Tgg>Cgg	p.W436R	RHCG_ENST00000544600.1_Missense_Mutation_p.W436R	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	436					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	p.W436R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					CTCACCTCCCAGTAGACCGCA	0.567000													14	67					0	0	0.004007	0	0
ASIC4	55515	broad.mit.edu	37	2	220397160	220397160	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:220397160G>A	ENST00000358078.4	+	4	1374	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	ASIC4_ENST00000347842.3_Missense_Mutation_p.V454M|ASIC4_ENST00000473709.1_3'UTR			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	454						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity	p.V454M(1)									AAAGGAGGCCGTGCTTCAGCG	0.677000													6	50					0	0	0.001984	0	0
STRN4	29888	broad.mit.edu	37	19	47223906	47223906	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:47223906G>T	ENST00000391910.3	-	17	2686	c.2236C>A	c.(2236-2238)Ctc>Atc	p.L746I	STRN4_ENST00000263280.6_Missense_Mutation_p.L739I|STRN4_ENST00000539396.1_Missense_Mutation_p.L620I			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	739						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	p.L739I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTGGCAATGAGGGCCTTGCTG	0.667000													4	46					0.00116845	0.0013309	0.001168	1	0
TBRG4	9238	broad.mit.edu	37	7	45145176	45145176	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:45145176G>T	ENST00000258770.3	-	3	720	c.599C>A	c.(598-600)tCg>tAg	p.S200*	TBRG4_ENST00000361278.3_Nonsense_Mutation_p.S200*|TBRG4_ENST00000395655.4_Nonsense_Mutation_p.S200*|TBRG4_ENST00000494076.1_Nonsense_Mutation_p.S200*	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	200					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity	p.S200*(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CAGCTCCTGCGAGTGCTGCTC	0.582000													13	254					7.03913e-09	9.99556e-09	0.001368	1	0
EHF	26298	broad.mit.edu	37	11	34680205	34680205	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:34680205G>T	ENST00000257831.3	+	8	854	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	EHF_ENST00000530286.1_Missense_Mutation_p.V245L|EHF_ENST00000450654.2_Missense_Mutation_p.V222L|EHF_ENST00000531794.1_Missense_Mutation_p.V267L|EHF_ENST00000533754.1_Missense_Mutation_p.V245L	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	245					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V245L(1)	NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATCAGAGGCAGTGGCTCAGCT	0.458000													46	70					3.39706e-21	5.74264e-21	0.003610	1	0
ZNF733P	643955	broad.mit.edu	37	7	62753165	62753165	+	RNA	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:62753165T>C	ENST00000331425.6	-	0	270					NR_003952.1																						GATGCCCTGCTCTGGCTGAAG	0.368000													7	284					0	0	0.000978	0	0
ANK2	287	broad.mit.edu	37	4	114176923	114176923	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:114176923G>T	ENST00000357077.4	+	11	1076	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	ANK2_ENST00000506722.1_Missense_Mutation_p.Q320H|ANK2_ENST00000394537.3_Missense_Mutation_p.Q341H|ANK2_ENST00000264366.6_Missense_Mutation_p.Q341H	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	341					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.Q341H(1)		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)		TGGCTGCCCAGGGAGACCACG	0.458000													28	155					6.04164e-23	1.04624e-22	0.002096	1	0
PQBP1	10084	broad.mit.edu	37	X	48759733	48759733	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:48759733G>C	ENST00000218224.4	+	4	770	c.516G>C	c.(514-516)gaG>gaC	p.E172D	PQBP1_ENST00000376566.4_Intron|PQBP1_ENST00000396763.1_Missense_Mutation_p.E172D|PQBP1_ENST00000376563.1_Missense_Mutation_p.E172D|PQBP1_ENST00000247140.4_Intron|PQBP1_ENST00000473764.1_3'UTR|PQBP1_ENST00000447146.2_Missense_Mutation_p.E172D	NM_005710.2	NP_005701.1	O60828	PQBP1_HUMAN	polyglutamine binding protein 1	172	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity	p.E172D(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						ACCGGGAAGAGGGCAAAGAAC	0.607000													12	24					0	0	0.001368	0	0
ZMAT1	84460	broad.mit.edu	37	X	101152922	101152922	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:101152922C>T	ENST00000372782.3	-	5	471	c.424G>A	c.(424-426)Gga>Aga	p.G142R	ZMAT1_ENST00000540921.1_Missense_Mutation_p.G142R|ZMAT1_ENST00000458570.1_5'UTR	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding	p.G142R(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGGACCTTTCCCACATAGTGA	0.413000													21	97					0	0	0.001882	0	0
PAK7	57144	broad.mit.edu	37	20	9546642	9546642	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:9546642G>T	ENST00000378429.3	-	6	1926	c.1380C>A	c.(1378-1380)acC>acA	p.T460T	PAK7_ENST00000378423.1_Silent_p.T460T|PAK7_ENST00000353224.5_Silent_p.T460T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	460	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.T460T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			ATACGATGCCGGTTGAGCCTT	0.532000													8	194					7.48243e-07	9.89911e-07	0.006214	1	0
CHL1	10752	broad.mit.edu	37	3	447225	447225	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:447225G>T	ENST00000256509.2	+	28	4148	c.3506G>T	c.(3505-3507)aGg>aTg	p.R1169M	CHL1_ENST00000397491.2_Missense_Mutation_p.R1153M	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1153					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.R1169I(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCCCTTAATAGGGATATGCAG	0.403000													10	58					1.08611e-07	1.48295e-07	0.000978	1	0
IGSF9B	22997	broad.mit.edu	37	11	133789980	133789980	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:133789980C>A	ENST00000321016.8	-	18	3870	c.3640G>T	c.(3640-3642)Ggc>Tgc	p.G1214C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.G1214C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1214	Pro-rich.					integral to membrane|plasma membrane		p.G670C(1)|p.G1214C(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCAGGGGAGCCGGTGCGGGAG	0.701000													36	49					5.43694e-19	9.07102e-19	0.005524	1	0
OR5K4	403278	broad.mit.edu	37	3	98072805	98072805	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:98072805G>T	ENST00000354924.2	+	1	108	c.108G>T	c.(106-108)ctG>ctT	p.L36L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L36L(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CCATCTATCTGGTCACCATGG	0.458000													17	285					4.14922e-12	6.35815e-12	0.004007	1	0
EVI5	7813	broad.mit.edu	37	1	93131509	93131509	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:93131509T>A	ENST00000370331.1	-	11	1340	c.1331A>T	c.(1330-1332)gAg>gTg	p.E444V	EVI5_ENST00000543509.1_Missense_Mutation_p.E444V|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000540033.1_Missense_Mutation_p.E444V	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	444	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	p.E444V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TTCTAATGTCTCGATGCGCTG	0.313000													9	65					0	0	0.008291	0	0
PRDM9	56979	broad.mit.edu	37	5	23510114	23510114	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:23510114A>T	ENST00000296682.3	+	4	461	c.279A>T	c.(277-279)gaA>gaT	p.E93D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	93					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E93D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATTCTGATGAAGAATGGACCC	0.453000										HNSCC(3;0.000094)			22	99					0	0	0.001882	0	0
A1CF	29974	broad.mit.edu	37	10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:52595854G>A	ENST00000395489.2	-	8	959	c.563C>T	c.(562-564)gCg>gTg	p.A188V	A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488000													7	120					0	0	0.003080	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102452390	102452390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr14:102452390C>T	ENST00000360184.4	+	8	1992	c.1828C>T	c.(1828-1830)Cag>Tag	p.Q610*		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	610	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.Q610K(1)|p.Q610*(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CCAGCTGATCCAGCGCGTGAA	0.507000													4	41					0	0	0.000248	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606415	82606415	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:82606415C>A	ENST00000518568.1	-	1	1994	c.793G>T	c.(793-795)Ggt>Tgt	p.G265C		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	265						integral to membrane	bile acid:sodium symporter activity	p.G265F(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						TGGAATGTACCTGACAACCCT	0.353000													17	83					8.34094e-07	1.09218e-06	0.008871	1	0
LRCH2	57631	broad.mit.edu	37	X	114422812	114422812	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:114422812C>T	ENST00000317135.8	-	2	501	c.471G>A	c.(469-471)caG>caA	p.Q157Q	LRCH2_ENST00000538422.1_Silent_p.Q157Q	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	157								p.Q157Q(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ATGTTAACATCTGCAGATTTT	0.289000													4	15					0	0	0.000248	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69107500	69107500	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:69107500A>T	ENST00000332644.5	-	2	192	c.31T>A	c.(31-33)Tct>Act	p.S11T		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	11					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.S11T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGTGGCCAAGATCTTTGGGAA	0.403000													4	80					0	0	0.000248	0	0
MYH4	4622	broad.mit.edu	37	17	10358324	10358324	+	Missense_Mutation	SNP	G	G	A	rs143572602	byFrequency	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:10358324G>A	ENST00000255381.2	-	21	2479	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	790	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.T790M(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTGAGTGCGCGTGATGAGTTG	0.458000													6	77					0	0	0.001168	0	0
CCDC41	51134	broad.mit.edu	37	12	94794689	94794689	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:94794689A>C	ENST00000397809.5	-	6	1035	c.486T>G	c.(484-486)ttT>ttG	p.F162L	CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000397807.2_Missense_Mutation_p.F129L|CCDC41_ENST00000547575.1_Missense_Mutation_p.F162L|CCDC41_ENST00000339839.5_Missense_Mutation_p.F162L	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	154								p.F162L(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCTGGTGTTCAAATTCTGACT	0.308000													14	116					0	0	0.002450	0	0
OR6N1	128372	broad.mit.edu	37	1	158735770	158735770	+	Silent	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:158735770T>G	ENST00000335094.2	-	1	722	c.703A>C	c.(703-705)Agg>Cgg	p.R235R		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					ATGGCCTTCCTCTTGCCGGCA	0.507000													12	184					0	0	0.000978	0	0
HSPA14	51182	broad.mit.edu	37	10	14894416	14894416	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:14894416T>G	ENST00000378372.3	+	8	859	c.620T>G	c.(619-621)gTc>gGc	p.V207G		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	207					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding	p.V207G(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TCTCTCAGCGTCATGGAAGTT	0.363000													51	180					0	0	0.003610	0	0
RNF152	220441	broad.mit.edu	37	18	59483224	59483224	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr18:59483224C>T	ENST00000312828.3	-	2	1572	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	158					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.R158Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				CACCACGCCCCGCCTGTCCTG	0.622000													26	47					0	0	0.006320	0	0
FAM132A	388581	broad.mit.edu	37	1	1178014	1178014	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:1178014C>A	ENST00000330388.2	-	8	854	c.823G>T	c.(823-825)Gct>Tct	p.A275S		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	275						extracellular region		p.A275S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AACACAGAAGCGTACTGTCCA	0.672000													3	8					6.4e-05	7.77662e-05	0.004672	1	0
MT1HL1	645745	broad.mit.edu	37	1	237167616	237167616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:237167616G>T	ENST00000464121.2	-	1	102	c.57C>A	c.(55-57)tgC>tgA	p.C19*		NM_001276687.1	NP_001263616.1			metallothionein 1H-like 1									p.C19*(1)									TTTTGCACTTGCAGGAGCCGG	0.627000													24	64					4.72057e-08	6.55749e-08	0.003954	1	0
OR11H12	440153	broad.mit.edu	37	14	19377748	19377748	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr14:19377748T>C	ENST00000550708.1	+	1	227	c.155T>C	c.(154-156)cTg>cCg	p.L52P		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACATATGCACTGACTATAACA	0.413000													3	132					0	0	0.004672	0	0
KMT2E	55904	broad.mit.edu	37	7	104747217	104747217	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:104747217G>C	ENST00000334877.4	+	20	3379	c.2845G>C	c.(2845-2847)Gag>Cag	p.E949Q	KMT2E_ENST00000334914.7_Missense_Mutation_p.E4Q|KMT2E_ENST00000311117.3_Missense_Mutation_p.E949Q|KMT2E_ENST00000257745.4_Missense_Mutation_p.E949Q					lysine (K)-specific methyltransferase 2E									p.E949Q(1)									CATGCACTTTGAGGTGAGAAA	0.373000													3	159					0	0	0.004672	0	0
VAV1	7409	broad.mit.edu	37	19	6825072	6825072	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:6825072G>C	ENST00000304076.2	+	7	757	c.663G>C	c.(661-663)ttG>ttC	p.L221F	VAV1_ENST00000539284.1_Missense_Mutation_p.L124F|VAV1_ENST00000602142.1_Missense_Mutation_p.L221F|VAV1_ENST00000599806.1_Missense_Mutation_p.L166F|VAV1_ENST00000596764.1_Missense_Mutation_p.L189F	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	221	DH.				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	p.L221F(1)		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						AGCATTTCTTGAAGCCCCTGC	0.527000													50	160					0	0	0.003610	0	0
OR6F1	343169	broad.mit.edu	37	1	247875457	247875457	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:247875457C>G	ENST00000302084.2	-	1	648	c.601G>C	c.(601-603)Gtg>Ctg	p.V201L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V201L(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACAGCAATCACAAAGGCCACA	0.542000													28	166					0	0	0.006320	0	0
UNC5D	137970	broad.mit.edu	37	8	35631950	35631950	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:35631950A>G	ENST00000287272.2	+	15	2425	c.2405A>G	c.(2404-2406)aAa>aGa	p.K802R	UNC5D_ENST00000416672.1_Missense_Mutation_p.K876R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K866R|UNC5D_ENST00000420357.1_Missense_Mutation_p.K804R|UNC5D_ENST00000449677.1_Missense_Mutation_p.K447R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K871R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	871					apoptosis|axon guidance	integral to membrane	receptor activity	p.K866R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCCAATGCCAAAGGCAAGGAC	0.468000													9	63					0	0	0.004482	0	0
TFAP2C	7022	broad.mit.edu	37	20	55208437	55208437	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:55208437G>T	ENST00000201031.2	+	4	858	c.615G>T	c.(613-615)ctG>ctT	p.L205L	TFAP2C_ENST00000544508.1_Silent_p.L36L	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	205					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.L205L(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			AGAACCCTCTGAACCTCCCCT	0.517000													11	70					6.40141e-05	7.77662e-05	0.000978	1	0
SULT2B1	6820	broad.mit.edu	37	19	49100065	49100065	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:49100065T>G	ENST00000323090.4	+	5	1045	c.670T>G	c.(670-672)Tcc>Gcc	p.S224A	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Missense_Mutation_p.S239A	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	239					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity	p.S224A(1)|p.S239A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GGCACTGGGCTCCGTCGTGGC	0.667000													5	29					0	0	0.000602	0	0
TRPC5	7224	broad.mit.edu	37	X	111195495	111195495	+	Missense_Mutation	SNP	G	G	A	rs35024852		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:111195495G>A	ENST00000262839.2	-	2	1072	c.154C>T	c.(154-156)Ctt>Ttt	p.L52F		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	52					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.L52F(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCCTCCTGAAGGGCCTGCTTC	0.542000													9	130					0	0	0.006214	0	0
SCAMP3	10067	broad.mit.edu	37	1	155226464	155226464	+	Splice_Site	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:155226464C>G	ENST00000355379.3	-	7	1098		c.e7+1		SCAMP3_ENST00000302631.3_Splice_Site|SCAMP3_ENST00000472397.1_Splice_Site	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3						post-Golgi vesicle-mediated transport|protein transport	integral to membrane		p.?(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACAGCCCTCACCCGTTTCAGC	0.607000													10	75					0	0	0.006214	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110431379	110431379	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:110431379G>T	ENST00000378402.5	+	22	2518	c.2414G>T	c.(2413-2415)gGg>gTg	p.G805V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	805					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.G807V(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AAATACACTGGGACAAATGTT	0.378000										HNSCC(38;0.096)			10	60					1.61879e-10	2.3725e-10	0.001368	1	0
TEX14	56155	broad.mit.edu	37	17	56688569	56688569	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:56688569G>T	ENST00000389934.3	-	10	1254	c.1137C>A	c.(1135-1137)atC>atA	p.I379I	TEX14_ENST00000240361.8_Silent_p.I385I|TEX14_ENST00000349033.5_Silent_p.I379I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	385	Protein kinase.					cytoplasm	ATP binding|protein kinase activity	p.I379I(2)|p.I385I(2)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACCTGGGGAGATGATATGGA	0.527000													43	157					3.54561e-26	6.32861e-26	0.002222	1	0
PLD5	200150	broad.mit.edu	37	1	242511434	242511434	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:242511434T>A	ENST00000442594.2	-	3	526	c.17A>T	c.(16-18)cAg>cTg	p.Q6L	PLD5_ENST00000536534.1_Silent_p.S100S|PLD5_ENST00000427495.1_Silent_p.S38S	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	0						integral to membrane	catalytic activity	p.S100S(1)|p.Q6L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			AATTTTTTTCTGAGAGTCCAT	0.453000													17	206					0	0	0.007413	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631143	6631143	+	Silent	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:6631143A>T	ENST00000333172.6	+	2	559	c.366A>T	c.(364-366)ccA>ccT	p.P122P	TAS1R1_ENST00000351136.3_Silent_p.P122P|TAS1R1_ENST00000328191.4_Silent_p.P122P	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	122					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.P122P(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TCTCCCTGCCAGGGCAACACC	0.587000													14	179					0	0	0.003163	0	0
UBE2J1	51465	broad.mit.edu	37	6	90039587	90039587	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:90039587C>A	ENST00000435041.2	-	8	1046	c.768G>T	c.(766-768)cgG>cgT	p.R256R		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	256						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity	p.R256R(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		GCTGCTGGGCCCGGCGCTGTC	0.522000													30	42					2.47511e-08	3.47603e-08	0.008361	1	0
TRBV5-4	28611	broad.mit.edu	37	7	142168637	142168637	+	RNA	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:142168637T>A	ENST00000454561.2	-	0	286																											TTTGATCAGGTGTGTGGGACT	0.567000													10	62					0	0	0.002780	0	0
SWT1	54823	broad.mit.edu	37	1	185159774	185159774	+	Splice_Site	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:185159774C>T	ENST00000367500.4	+	10	1688	c.1523_splice	c.e10+1	p.T508_splice	SWT1_ENST00000367501.3_Splice_Site_p.T508_splice	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	508	PINc.							p.T508M(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						ATTCTGTGCACGTGAGTTTCA	0.318000													31	59					0	0	0.008361	0	0
SGCA	6442	broad.mit.edu	37	17	48245884	48245884	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:48245884T>A	ENST00000262018.3	+	5	571	c.535T>A	c.(535-537)Ttg>Atg	p.L179M	SGCA_ENST00000451235.2_Missense_Mutation_p.L77M|SGCA_ENST00000344627.6_Missense_Mutation_p.L179M|SGCA_ENST00000543315.1_Missense_Mutation_p.L179M|SGCA_ENST00000513942.1_3'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	179					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.L179M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACCTCTGCCTTGGACCGTGG	0.622000													6	9					0	0	0.001168	0	0
RIMS2	9699	broad.mit.edu	37	8	105025733	105025733	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:105025733C>A	ENST00000507740.1	+	16	2786	c.2550C>A	c.(2548-2550)ctC>ctA	p.L850L	RIMS2_ENST00000406091.3_Silent_p.L1036L|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Silent_p.L875L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1098	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.L851I(2)|p.L1037I(1)|p.L1104I(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)			AACGGCCTCTCCTTGAGCGGA	0.488000										HNSCC(12;0.0054)			39	61					2.66277e-13	4.15002e-13	0.006999	1	0
EPHA5	2044	broad.mit.edu	37	4	66467644	66467644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:66467644C>A	ENST00000273854.3	-	3	1225	c.625G>T	c.(625-627)Gga>Tga	p.G209*	EPHA5_ENST00000511294.1_Nonsense_Mutation_p.G209*|EPHA5_ENST00000354839.4_Nonsense_Mutation_p.G209*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.G209*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	209					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.K208_G209>N*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGATAAAATCCCTTTTTGCTT	0.418000										TSP Lung(17;0.13)			5	73					1.23904e-05	1.54337e-05	0.000602	1	0
ASB14	142686	broad.mit.edu	37	3	57311911	57311911	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:57311911A>T	ENST00000487349.1	-	9	1589	c.1469T>A	c.(1468-1470)cTc>cAc	p.L490H	ASB14_ENST00000389601.3_Missense_Mutation_p.L490H	NM_001142733.2|NM_130387.5	NP_001136205.2|NP_569058.1	A6NK59	ASB14_HUMAN	ankyrin repeat and SOCS box containing 14	490					intracellular signal transduction			p.L205H(1)|p.L490H(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CTTTCCAGAGAGATGTTGCAG	0.383000													12	56					0	0	0.000978	0	0
MYOM2	9172	broad.mit.edu	37	8	2026987	2026987	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:2026987G>C	ENST00000262113.4	+	12	1576	c.1435G>C	c.(1435-1437)Gac>Cac	p.D479H	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	479					muscle contraction	myosin filament	structural constituent of muscle	p.D479H(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGCTGCACTTGACCCCTTGGA	0.527000													8	210					0	0	0.003080	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917076	48917076	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:48917076A>G	ENST00000311378.4	+	2	955	c.427A>G	c.(427-429)Agc>Ggc	p.S143G	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.S50G	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	143	Kazal-like.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	p.S143G(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GAAGGAGCCCAGCTTTACCTG	0.582000													10	42					0	0	0.001368	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609108	84609108	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:84609108C>A	ENST00000344803.2	+	4	3770	c.3723C>A	c.(3721-3723)tcC>tcA	p.S1241S		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.S1241S(2)									TGACTAATTCCCAGGGCATCT	0.522000													55	258					1.78197e-24	3.12823e-24	0.003610	1	0
OPTN	10133	broad.mit.edu	37	10	13152401	13152401	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:13152401G>A	ENST00000378748.3	+	5	656	c.294G>A	c.(292-294)atG>atA	p.M98I	OPTN_ENST00000378752.3_Missense_Mutation_p.M98I|OPTN_ENST00000378747.3_Missense_Mutation_p.M98I|OPTN_ENST00000263036.5_Missense_Mutation_p.M98I|OPTN_ENST00000482140.1_Intron|OPTN_ENST00000378764.2_Missense_Mutation_p.M98I|OPTN_ENST00000378757.2_Missense_Mutation_p.M98I	NM_001008211.1|NM_001008213.1	NP_001008212.1|NP_001008214.1	Q96CV9	OPTN_HUMAN	optineurin	98	Interaction with Rab8.		M -> K (may modify intraocular pressure and increase risk of GLC1E and NPG; may be a common polymorphism; dbSNP:rs11258194).		cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding	p.M98I(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						AGCGTCTAATGGCCTTGAGTC	0.438000													4	43					0	0	0.000248	0	0
TEF	7008	broad.mit.edu	37	22	41790242	41790242	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr22:41790242C>G	ENST00000266304.4	+	3	734	c.618C>G	c.(616-618)caC>caG	p.H206Q	TEF_ENST00000406644.3_Missense_Mutation_p.H176Q	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	206	Pro-rich (proline/acidic region (PAR)).				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.H206Q(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTCGGAAGCACAAGTTTGCTG	0.542000													14	89					0	0	0.001855	0	0
MUC16	94025	broad.mit.edu	37	19	9047244	9047244	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:9047244G>T	ENST00000397910.4	-	5	34590	c.34387C>A	c.(34387-34389)Ctg>Atg	p.L11463M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11465	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L11463M(1)|p.L7096M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATGACCAGTGAGGTCAGC	0.493000													59	162					1.16596e-39	2.1287e-39	0.003610	1	0
TENM1	10178	broad.mit.edu	37	X	123615651	123615651	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:123615651G>A	ENST00000422452.2	-	22	3943	c.3880C>T	c.(3880-3882)Ctt>Ttt	p.L1294F	TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.L1287F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.L1289F(1)									TCAAAGGGAAGGCACTGATCA	0.408000													10	165					0	0	0.000978	0	0
ATP2B3	492	broad.mit.edu	37	X	152806953	152806953	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:152806953G>T	ENST00000370186.1	+	3	671	c.345G>T	c.(343-345)gaG>gaT	p.E115D	ATP2B3_ENST00000263519.4_Missense_Mutation_p.E115D|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E115D|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E115D|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E115D|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E115D			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	115					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.E115D(4)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATCCTGGAGGTGGCTGCCA	0.622000													20	45					2.89027e-11	4.31514e-11	0.002299	1	0
RGMB	285704	broad.mit.edu	37	5	98128880	98128880	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:98128880G>A	ENST00000308234.7	+	5	1262	c.860G>A	c.(859-861)gGc>gAc	p.G287D	RGMB_ENST00000513185.1_Missense_Mutation_p.G246D	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	246					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	p.G287D(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		TTTGTGGATGGCACCACCAGT	0.542000													3	42					0	0	0.004672	0	0
L1CAM	3897	broad.mit.edu	37	X	153132929	153132929	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:153132929G>T	ENST00000370060.1	-	17	2208	c.2019C>A	c.(2017-2019)acC>acA	p.T673T	L1CAM_ENST00000543994.1_Silent_p.T675T|L1CAM_ENST00000538883.1_Silent_p.T675T|L1CAM_ENST00000370057.3_Silent_p.T673T|L1CAM_ENST00000361699.4_Silent_p.T673T|L1CAM_ENST00000361981.3_Silent_p.T668T|L1CAM_ENST00000370055.1_Silent_p.T668T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	673	Fibronectin type-III 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.T673T(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGGTAGAGGTCTGGTTCC	0.512000													24	261					3.6726e-16	5.94125e-16	0.003954	1	0
UNC5B	219699	broad.mit.edu	37	10	73053217	73053217	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:73053217A>T	ENST00000335350.6	+	12	2244	c.1828A>T	c.(1828-1830)Aca>Tca	p.T610S	UNC5B_ENST00000373192.4_Missense_Mutation_p.T599S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	610	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.T610S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTGTGGACCCACAGGCCTCCT	0.627000													35	99					0	0	0.003755	0	0
MEIS2	4212	broad.mit.edu	37	15	37184493	37184493	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:37184493T>G	ENST00000338564.5	-	13	1740	c.1294A>C	c.(1294-1296)Atg>Ctg	p.M432L	MEIS2_ENST00000559085.1_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000382766.2_Missense_Mutation_p.M432L|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000561208.1_Missense_Mutation_p.M439L	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	439					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.M439L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCGTGCATCATCATGGCTGGG	0.512000													130	271					0	0	0.003610	0	0
UTP14A	10813	broad.mit.edu	37	X	129054695	129054695	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:129054695G>A	ENST00000394422.3	+	10	949	c.921G>A	c.(919-921)aaG>aaA	p.K307K	UTP14A_ENST00000371051.5_Silent_p.K253K|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000498179.1_3'UTR|UTP14A_ENST00000371042.3_Silent_p.K139K|UTP14A_ENST00000425117.2_Silent_p.K255K	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	307					rRNA processing	nucleolus|small-subunit processome	protein binding	p.K307K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AATGGGCCAAGTCAAAGGCAA	0.458000													13	166					0	0	0.002450	0	0
WDR16	146845	broad.mit.edu	37	17	9538752	9538752	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:9538752C>T	ENST00000352665.5	+	11	1420	c.1351C>T	c.(1351-1353)Cag>Tag	p.Q451*	WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Nonsense_Mutation_p.Q461*|WDR16_ENST00000396219.3_Nonsense_Mutation_p.Q383*	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	451						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.Q451*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGTCAGACCCAGAAGCTGGA	0.532000													7	90					0	0	0.003080	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													4	32					0	0	0.000248	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235628937	235628937	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:235628937C>T	ENST00000313984.3	-	8	1149	c.980G>A	c.(979-981)tGa>tAa	p.*327*	B3GALNT2_ENST00000366600.3_Intron|B3GALNT2_ENST00000478199.1_5'UTR	NM_001277155.1	NP_001264084.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	0					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TTTCAAGTTTCAACTAGCAAA	0.343000													8	201					0	0	0.004482	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435591	7435591	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:7435591A>T	ENST00000319098.4	-	1	1109	c.1016T>A	c.(1015-1017)tTg>tAg	p.L339*	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	339	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome		p.L339*(1)|p.L71*(1)		lung(4)	4						GGTGTCCACCAAGATGATGCA	0.582000													32	77					0	0	0.002096	0	0
LRRC42	115353	broad.mit.edu	37	1	54417792	54417792	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:54417792G>T	ENST00000371370.3	+	3	641	c.120G>T	c.(118-120)aaG>aaT	p.K40N	LRRC42_ENST00000319223.4_Missense_Mutation_p.K40N	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	40								p.K40N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						GCCTGCAGAAGCCAAGGCCTT	0.517000													30	72					2.85442e-18	4.72532e-18	0.002096	1	0
POM121C	100101267	broad.mit.edu	37	7	75052311	75052311	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:75052311G>A	ENST00000453279.2	-	13	2088	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	POM121C_ENST00000257665.5_Silent_p.A650A	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	650	Pore side (Potential).|Ser-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	p.A408A(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TGGTGTCAGTGGCTGGTACCA	0.627000													20	53					0	0	0.005443	0	0
KCNH5	27133	broad.mit.edu	37	14	63175029	63175029	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr14:63175029G>T	ENST00000322893.7	-	11	2432	c.2164C>A	c.(2164-2166)Cag>Aag	p.Q722K	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	722					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.Q722K(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTTGAGCCCTGATTCCGCAGC	0.577000													14	116					9.05144e-12	1.37059e-11	0.001855	1	0
AP4B1	10717	broad.mit.edu	37	1	114437980	114437980	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:114437980G>C	ENST00000369569.1	-	10	2207	c.1927C>G	c.(1927-1929)Cag>Gag	p.Q643E	AP4B1_ENST00000369567.1_Missense_Mutation_p.Q475E|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.Q643E|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	643					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.Q643E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACACTTGCTGATGAGCAACT	0.498000													5	133					0	0	0.001984	0	0
CEP350	9857	broad.mit.edu	37	1	180047644	180047644	+	Silent	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:180047644A>G	ENST00000367607.3	+	29	6232	c.5814A>G	c.(5812-5814)ctA>ctG	p.L1938L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1938						centrosome|nucleus|spindle		p.L1938L(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACTCTCATCTAAACAGTGAAA	0.433000													11	50					0	0	0.000978	0	0
TSPYL2	64061	broad.mit.edu	37	X	53115108	53115108	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:53115108G>A	ENST00000375442.4	+	6	1666	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	512	Asn-rich.				cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	p.D512N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						tgagagtgcagatgacaacaa	0.453000													9	48					0	0	0.004482	0	0
FAM151A	338094	broad.mit.edu	37	1	55080475	55080475	+	Missense_Mutation	SNP	C	C	T	rs150113940	byFrequency	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:55080475C>T	ENST00000302250.2	-	4	633	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Missense_Mutation_p.R158Q	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	158						integral to membrane		p.R158Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGTCAGCTGCCGCAGGAGGTC	0.557000													5	59					0	0	0.001168	0	0
IFI16	3428	broad.mit.edu	37	1	159002405	159002405	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:159002405G>A	ENST00000295809.7	+	7	1508	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	IFI16_ENST00000368131.4_Missense_Mutation_p.S418N|IFI16_ENST00000430894.2_Missense_Mutation_p.S366N|IFI16_ENST00000359709.3_Missense_Mutation_p.S362N|IFI16_ENST00000340979.6_Missense_Mutation_p.S418N|IFI16_ENST00000448393.2_Missense_Mutation_p.S418N|IFI16_ENST00000368132.3_Missense_Mutation_p.S418N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	418					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.S418N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TCAGAGGCCAGCACAACCTTC	0.493000													21	70					0	0	0.003271	0	0
DOCK1	1793	broad.mit.edu	37	10	128821561	128821561	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:128821561G>T	ENST00000280333.6	+	14	1471	c.1362G>T	c.(1360-1362)gtG>gtT	p.V454V	RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.2_ENST00000420941.2_RNA	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	454	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.V454V(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CGGTGTCTGTGTACGATGAGG	0.433000													15	340					1.37285e-15	2.20415e-15	0.004007	1	0
CR1	1378	broad.mit.edu	37	1	207679324	207679324	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:207679324G>T	ENST00000367049.4	+	2	197	c.197G>T	c.(196-198)gGg>gTg	p.G66V	CR1_ENST00000367053.1_Missense_Mutation_p.G66V|CR1_ENST00000367051.1_Missense_Mutation_p.G66V|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Missense_Mutation_p.G66V|CR1_ENST00000367052.1_Missense_Mutation_p.G66V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	66	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.G71V(1)|p.G66V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCCCATTGGGACATATCTG	0.468000													68	155					4.83677e-39	8.78039e-39	0.003610	1	0
NCOR1	9611	broad.mit.edu	37	17	16004983	16004983	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:16004983C>A	ENST00000268712.3	-	20	2528	c.2271G>T	c.(2269-2271)acG>acT	p.T757T	NCOR1_ENST00000395851.1_Silent_p.T773T|NCOR1_ENST00000395848.1_Silent_p.T664T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	757					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTGCAGTTTCCGTGGTGGGCT	0.517000													4	158					2.56e-06	3.27168e-06	0.000248	1	0
MAP1A	4130	broad.mit.edu	37	15	43821703	43821703	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:43821703C>G	ENST00000382031.1	+	5	8777	c.8746C>G	c.(8746-8748)Cca>Gca	p.P2916A	MAP1A_ENST00000300231.5_Missense_Mutation_p.P2678A|MAP1A_ENST00000399453.1_Missense_Mutation_p.P2678A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2678						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	p.P2678A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CAAGGCAGGACCAAGTAAGTA	0.552000													5	41					0	0	0.001168	0	0
NBAS	51594	broad.mit.edu	37	2	15417165	15417165	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:15417165C>A	ENST00000281513.5	-	43	5224	c.5199G>T	c.(5197-5199)aaG>aaT	p.K1733N	NBAS_ENST00000441750.1_Missense_Mutation_p.K1613N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1733								p.K1733N(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTGGATCAGTCTTCAAAGTCT	0.393000													5	72					0.000602214	0.000697129	0.000602	1	0
CACNA1E	777	broad.mit.edu	37	1	181745334	181745334	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:181745334G>A	ENST00000526775.1	+	37	5345	c.5180G>A	c.(5179-5181)cGc>cAc	p.R1727H	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1727H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1353H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1746H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1697H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1746H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1678H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1746					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R1746H(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGTTTGTCCGCGTCTGGGCA	0.607000													23	281					0	0	0.002299	0	0
PCDHB16	57717	broad.mit.edu	37	5	140562573	140562573	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:140562573C>A	ENST00000361016.2	+	1	1594	c.439C>A	c.(439-441)Cct>Act	p.P147T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		147	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P147T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAAACAGTCCTCTAGGAAC	0.388000													15	32					2.32078e-09	3.34005e-09	0.003163	1	0
USP26	83844	broad.mit.edu	37	X	132162134	132162134	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:132162134C>A	ENST00000511190.1	-	6	584	c.115G>T	c.(115-117)Gtg>Ttg	p.V39L	USP26_ENST00000406273.1_Missense_Mutation_p.V39L|USP26_ENST00000370832.1_Missense_Mutation_p.V39L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	39					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.V39L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAATACAGCACCAGTCTATCT	0.368000													18	132					1.99824e-07	2.70524e-07	0.004990	1	0
SEPT4	5414	broad.mit.edu	37	17	56598633	56598633	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:56598633G>A	ENST00000457347.2	-	10	1285	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	SEPT4_ENST00000580844.1_Missense_Mutation_p.P267S|SEPT4_ENST00000393086.1_Missense_Mutation_p.P347S|SEPT4_ENST00000317256.6_Missense_Mutation_p.P347S|SEPT4_ENST00000317268.3_Missense_Mutation_p.P366S|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Missense_Mutation_p.P358S|SEPT4_ENST00000579371.1_Missense_Mutation_p.P267S|SEPT4_ENST00000583114.1_Missense_Mutation_p.P219S|RP11-112H10.4_ENST00000580589.1_RNA	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	366					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.P366S(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGCCCCAGGGGTAGAGTCGA	0.587000											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	73					0	0	0.003330	0	0
AMELX	265	broad.mit.edu	37	X	11316980	11316980	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:11316980C>G	ENST00000380712.3	+	6	567	c.499C>G	c.(499-501)Ccg>Gcg	p.P167A	ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.P137A|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.P153A	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	153					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	p.P167A(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GCAGCCCCTGCCGCCACAGCC	0.657000													8	23					0	0	0.003080	0	0
SERPINB5	5268	broad.mit.edu	37	18	61160414	61160414	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr18:61160414C>A	ENST00000489441.1	+	5	748	c.653C>A	c.(652-654)cCa>cAa	p.P218Q	SERPINB5_ENST00000382771.4_Intron|SERPINB5_ENST00000464346.1_Intron			P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	0					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AAATCCATTCCAATGAGGAAC	0.493000													10	21					1.58986e-06	2.04411e-06	0.008291	1	0
PRKCB	5579	broad.mit.edu	37	16	24202456	24202456	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:24202456G>T	ENST00000303531.7	+	16	1920	c.1768G>T	c.(1768-1770)Ggc>Tgc	p.G590C	PRKCB_ENST00000321728.7_Missense_Mutation_p.G590C	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	590	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.G590C(2)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TGGACCTGAAGGCGAACGTGA	0.433000													11	92					0.000978159	0.0011262	0.000978	1	0
EIF4G2	1982	broad.mit.edu	37	11	10822111	10822111	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:10822111G>A	ENST00000526148.1	-	17	2238	c.1728C>T	c.(1726-1728)caC>caT	p.H576H	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.H576H|EIF4G2_ENST00000396525.2_Silent_p.H538H|EIF4G2_ENST00000525681.1_Silent_p.H576H	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	576	MI.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.H576H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAGGAAGAAAGTGTTTAGGAG	0.373000													70	77					0	0	0.003610	0	0
PAXBP1	94104	broad.mit.edu	37	21	34136681	34136681	+	Silent	SNP	A	A	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr21:34136681A>C	ENST00000331923.4	-	3	816	c.627T>G	c.(625-627)tcT>tcG	p.S209S	PAXBP1_ENST00000290178.4_Silent_p.S209S|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1									p.S209S(1)									CATTCAATGAAGATAAAGCAT	0.358000													14	67					0	0	0.003163	0	0
ZNF17	7565	broad.mit.edu	37	19	57931586	57931586	+	Silent	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:57931586A>T	ENST00000307658.7	+	4	995	c.732A>T	c.(730-732)ggA>ggT	p.G244G	ZNF17_ENST00000601808.1_Silent_p.G242G|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G242G(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ATCATACTGGAGAAAGGCCTT	0.403000													22	44					0	0	0.001523	0	0
FOXP1	27086	broad.mit.edu	37	3	71015118	71015118	+	Silent	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:71015118T>C	ENST00000318789.4	-	20	2337	c.1812A>G	c.(1810-1812)gaA>gaG	p.E604E	FOXP1_ENST00000484350.1_Silent_p.E528E|FOXP1_ENST00000468577.1_Silent_p.E540E|FOXP1_ENST00000475937.1_Silent_p.E604E|FOXP1_ENST00000498215.1_Silent_p.E604E|FOXP1_ENST00000493089.1_Silent_p.E603E|FOXP1_ENST00000491238.1_Silent_p.E606E	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	604					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.E604E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CGTTCAGCTCTTCCCGTATTG	0.517000			T	PAX5	ALL								13	182					0	0	0.001855	0	0
SV2C	22987	broad.mit.edu	37	5	75597285	75597285	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:75597285A>T	ENST00000502798.2	+	12	2357	c.1915A>T	c.(1915-1917)Atg>Ttg	p.M639L	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.M639L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	639					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.M639L(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GATGATAGGCATGCTGTGTCT	0.507000													9	164					0	0	0.006214	0	0
OR6F1	343169	broad.mit.edu	37	1	247875886	247875886	+	Missense_Mutation	SNP	G	G	T	rs141051959		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:247875886G>T	ENST00000302084.2	-	1	219	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AAGTACATGGGGGTATGCAAC	0.488000													5	203					0.00116845	0.0013309	0.001168	1	0
SPTA1	6708	broad.mit.edu	37	1	158647525	158647525	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:158647525G>T	ENST00000368148.3	-	7	1092	c.912C>A	c.(910-912)caC>caA	p.H304Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.H304Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	304					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.H304Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTTGTGACTGTGAAACAGTC	0.478000													7	109					8.12818e-05	9.83695e-05	0.001984	1	0
RHD	6007	broad.mit.edu	37	1	25627475	25627475	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:25627475C>A	ENST00000328664.4	+	4	680	c.525C>A	c.(523-525)ttC>ttA	p.F175L	RHD_ENST00000342055.5_Missense_Mutation_p.F175L|RHD_ENST00000357542.4_Missense_Mutation_p.F175L|RHD_ENST00000423810.2_Missense_Mutation_p.F175L|RHD_ENST00000417538.2_Missense_Mutation_p.F175L|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000454452.2_Missense_Mutation_p.F175L|RHD_ENST00000568195.1_Missense_Mutation_p.F175L	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	175						integral to plasma membrane		p.F175L(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCTACGTGTTCGCAGCCTATT	0.532000													25	152					9.86323e-18	1.62858e-17	0.003954	1	0
TMPPE	643853	broad.mit.edu	37	3	33134917	33134917	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:33134917C>T	ENST00000342462.4	-	2	961	c.771G>A	c.(769-771)acG>acA	p.T257T	TMPPE_ENST00000416695.2_Silent_p.T120T|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307377.8_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	257						integral to membrane	metal ion binding	p.T257T(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GAGCGACAGCCGTCCGCAGGA	0.537000													6	122					0	0	0.003080	0	0
CDH10	1008	broad.mit.edu	37	5	24487878	24487878	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:24487878C>A	ENST00000264463.4	-	12	2768	c.2261G>T	c.(2260-2262)gGt>gTt	p.G754V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	754					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G754V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTCAGTAGTACCTGATTCTAA	0.468000										HNSCC(23;0.051)			48	165					1.00776e-21	1.72181e-21	0.003610	1	0
PDE6B	5158	broad.mit.edu	37	4	619514	619514	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:619514C>A	ENST00000255622.6	+	1	142	c.99C>A	c.(97-99)gcC>gcA	p.A33A	PDE6B_ENST00000496514.1_Silent_p.A33A	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	33				AAA -> GRG (in Ref. 1; CAA44569, 2; CAA46932 and 3; AAB22690).	cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.A33A(2)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGAATGTGGCCGCGGCCTGCG	0.652000													14	48					1.3612e-06	1.76075e-06	0.003163	1	0
CYLD	1540	broad.mit.edu	37	16	50816329	50816329	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:50816329G>A	ENST00000540145.1	+	11	2193	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D	CYLD_ENST00000427738.3_Missense_Mutation_p.G593D|CYLD_ENST00000398568.2_Missense_Mutation_p.G590D|CYLD_ENST00000569418.1_Missense_Mutation_p.G590D|CYLD_ENST00000311559.9_Missense_Mutation_p.G593D|CYLD_ENST00000568704.2_Missense_Mutation_p.G408D|CYLD_ENST00000566206.1_Missense_Mutation_p.G590D|CYLD_ENST00000564326.1_Missense_Mutation_p.G590D			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	593	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.G593D(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGAAGAAAGGCATCCAGGGT	0.373000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				20	59					0	0	0.008871	0	0
DMD	1756	broad.mit.edu	37	X	32834589	32834589	+	Missense_Mutation	SNP	G	G	T	rs141028860		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:32834589G>T	ENST00000357033.4	-	6	732	c.526C>A	c.(526-528)Cat>Aat	p.H176N	DMD_ENST00000288447.4_Missense_Mutation_p.H168N|DMD_ENST00000378677.2_Missense_Mutation_p.H172N	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	176	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.H176N(2)|p.H171N(2)|p.H172N(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTTACCTATGACTATGGATG	0.403000													13	74					1.61879e-10	2.3725e-10	0.001368	1	0
ZNF208	7757	broad.mit.edu	37	19	22155846	22155846	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:22155846G>T	ENST00000397126.4	-	4	2138	c.1990C>A	c.(1990-1992)Ccc>Acc	p.P664T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.P564T(2)|p.P664T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CATTTGTAGGGCTTCTCTCCA	0.383000													11	112					0.000219431	0.000261598	0.002450	1	0
TTN	7273	broad.mit.edu	37	2	179441915	179441915	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:179441915G>A	ENST00000589042.1	-	324	69371	c.69147C>T	c.(69145-69147)atC>atT	p.I23049I	TTN_ENST00000359218.5_Silent_p.I14109I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I14176I|TTN_ENST00000342992.6_Silent_p.I20481I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.I13984I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.I21408I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21408	Fibronectin type-III 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I14109I(1)|p.I14176I(1)|p.I13984I(1)|p.I20481I(1)|p.I20479I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACATTACTGATTTCAACAG	0.443000													8	46					0	0	0.003080	0	0
CILP2	148113	broad.mit.edu	37	19	19654969	19654969	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:19654969C>T	ENST00000586018.1	+	8	1735	c.1633C>T	c.(1633-1635)Cct>Tct	p.P545S	CILP2_ENST00000291495.4_Missense_Mutation_p.P539S			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	539						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	p.P539S(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCGGGTCTTGCCTTTTGATCC	0.602000													18	62					0	0	0.006122	0	0
HOGA1	112817	broad.mit.edu	37	10	99361691	99361691	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:99361691G>A	ENST00000370646.4	+	6	1139	c.778G>A	c.(778-780)Ggg>Agg	p.G260R	PI4K2A_ENST00000555577.1_Missense_Mutation_p.G97R|PI4K2A_ENST00000370649.3_Missense_Mutation_p.G97R|HOGA1_ENST00000370647.4_Missense_Mutation_p.G97R	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1									p.G97R(1)|p.G260R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						GTGCTGCACGGGGCAATGGGA	0.677000													9	50					0	0	0.006214	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58564911	58564911	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:58564911G>T	ENST00000282326.1	+	6	966	c.719G>T	c.(718-720)gGt>gTt	p.G240V		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	240					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G240V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGCCCCAAGGGTCCAAGTGCT	0.602000													20	37					2.54575e-18	4.22528e-18	0.001523	1	0
CCNB3	85417	broad.mit.edu	37	X	50053795	50053795	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:50053795C>G	ENST00000376042.1	+	6	2924	c.2626C>G	c.(2626-2628)Cga>Gga	p.R876G	CCNB3_ENST00000276014.7_Missense_Mutation_p.R876G|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	876					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.R876G(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CCTCTTTAAGCGACACTCAGC	0.517000													7	51					0	0	0.001984	0	0
NCOA1	8648	broad.mit.edu	37	2	24933898	24933898	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:24933898G>A	ENST00000405141.1	+	15	3228	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	NCOA1_ENST00000538539.1_Silent_p.A839A|NCOA1_ENST00000288599.5_Silent_p.A839A|NCOA1_ENST00000407230.1_Silent_p.A688A|NCOA1_ENST00000406961.1_Silent_p.A839A|NCOA1_ENST00000395856.3_Silent_p.A839A|NCOA1_ENST00000348332.3_Silent_p.A839A			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	839	Interaction with CREBBP.							p.A839A(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGATGGTGCGGTCACCAGTG	0.522000			T	PAX3	alveolar rhadomyosarcoma								22	38					0	0	0.001882	0	0
DMC1	11144	broad.mit.edu	37	22	38962738	38962738	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr22:38962738C>T	ENST00000216024.2	-	4	376	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	DMC1_ENST00000428462.2_Missense_Mutation_p.V34M	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	34					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	p.V34M(2)		large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					ATGTCAGCCACGTTCTGTAAA	0.428000								Homologous recombination					4	43					0	0	0.000248	0	0
FLG2	388698	broad.mit.edu	37	1	152329152	152329152	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:152329152C>A	ENST00000388718.5	-	3	1182	c.1110G>T	c.(1108-1110)tgG>tgT	p.W370C	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	370	Ser-rich.						calcium ion binding|structural molecule activity	p.W370C(1)		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)			AGCCTGTTCTCCATTGTCCTC	0.483000													55	124					1.63038e-21	2.77816e-21	0.003610	1	0
TRIO	7204	broad.mit.edu	37	5	14482705	14482705	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:14482705C>T	ENST00000344204.4	+	46	6504	c.6480C>T	c.(6478-6480)gcC>gcT	p.A2160A	TRIO_ENST00000537187.1_Silent_p.A2160A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2160	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.A2160A(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAATCGTTGCCCAGGGTAAAC	0.458000													20	36					0	0	0.008871	0	0
SIRPA	140885	broad.mit.edu	37	20	1903223	1903223	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:1903223C>T	ENST00000358771.4	+	4	1171	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V	SIRPA_ENST00000400068.3_Missense_Mutation_p.A340V|SIRPA_ENST00000356025.3_Missense_Mutation_p.A340V	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	340	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.A340V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGGCAGCCAGCGGTCAGCAAA	0.572000													15	41					0	0	0.004007	0	0
F13B	2165	broad.mit.edu	37	1	197032176	197032176	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:197032176C>G	ENST00000367412.1	-	2	119	c.76G>C	c.(76-78)Ggt>Cgt	p.G26R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	26	Sushi 1.				blood coagulation	extracellular region		p.G26R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TGAGGAAAACCACAGGGTTTC	0.294000													80	249					0	0	0.003610	0	0
ZNF556	80032	broad.mit.edu	37	19	2877918	2877918	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:2877918G>A	ENST00000586426.1	+	4	1046	c.959G>A	c.(958-960)gGg>gAg	p.G320E	ZNF556_ENST00000307635.2_Missense_Mutation_p.G321E			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G321E(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GGAAAATGCGGGAAAGCATTC	0.522000													16	55					0	0	0.003163	0	0
SLC4A11	83959	broad.mit.edu	37	20	3215504	3215504	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:3215504G>T	ENST00000380059.3	-	3	355	c.254C>A	c.(253-255)gCc>gAc	p.A85D	SLC4A11_ENST00000380056.3_Missense_Mutation_p.A58D|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.A42D	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	58					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.A85D(1)|p.A58D(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CTCCTCTCGGGCTTCGAAGGT	0.542000													21	46					7.87624e-14	1.24577e-13	0.002780	1	0
SEMG1	6406	broad.mit.edu	37	20	43836993	43836993	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:43836993G>A	ENST00000372781.3	+	2	1112	c.1055G>A	c.(1054-1056)aGt>aAt	p.S352N	SEMG1_ENST00000244069.6_Missense_Mutation_p.S292N	NM_003007.3	NP_002998.1			semenogelin I									p.S352N(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAATCTTCAAGTACGGAAGAA	0.408000													6	35					0	0	0.001168	0	0
FOXG1	2290	broad.mit.edu	37	14	29237715	29237715	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr14:29237715C>T	ENST00000382535.3	+	2	1599	c.1230C>T	c.(1228-1230)ctC>ctT	p.L410L	FOXG1_ENST00000313071.4_Silent_p.L410L			P55316	FOXG1_HUMAN	forkhead box G1	410					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.L410L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCAACCTGCTCGCGGGCCAGA	0.682000													5	45					0	0	0.000602	0	0
LRRC6	23639	broad.mit.edu	37	8	133650267	133650267	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:133650267G>A	ENST00000519595.1	-	4	441	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	LRRC6_ENST00000250173.1_Silent_p.L115L|LRRC6_ENST00000518642.1_Silent_p.L115L|LRRC6_ENST00000520446.1_5'UTR			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	115						cytoplasm		p.L115L(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGCTCCTTCAGATGGATATTG	0.423000													27	64					0	0	0.004656	0	0
FDXR	2232	broad.mit.edu	37	17	72859251	72859251	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:72859251G>A	ENST00000442102.2	-	11	1507	c.1421C>T	c.(1420-1422)cCc>cTc	p.P474L	FDXR_ENST00000583917.1_Missense_Mutation_p.P403L|FDXR_ENST00000293195.5_Missense_Mutation_p.P431L|FDXR_ENST00000581530.1_Missense_Mutation_p.P437L|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000413947.2_Missense_Mutation_p.P462L|FDXR_ENST00000420580.2_Missense_Mutation_p.P391L|FDXR_ENST00000582944.1_Missense_Mutation_p.P423L|FDXR_ENST00000544854.1_Missense_Mutation_p.P379L	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	431					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	p.P437L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GGGGCCAGAGGGGAGCAACCC	0.647000													7	25					0	0	0.001984	0	0
FAM47C	442444	broad.mit.edu	37	X	37028467	37028467	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:37028467C>A	ENST00000358047.3	+	1	2036	c.1984C>A	c.(1984-1986)Cgg>Agg	p.R662R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	662								p.R662R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGACTCGGGTGTCCAG	0.652000													17	70					8.34094e-07	1.09218e-06	0.008871	1	0
TAB1	10454	broad.mit.edu	37	22	39811578	39811578	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr22:39811578C>G	ENST00000216160.6	+	3	306	c.244C>G	c.(244-246)Cag>Gag	p.Q82E	TAB1_ENST00000331454.3_Missense_Mutation_p.Q82E	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	82	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding	p.Q82E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CTTCGTGGCCCAGCGGCTGTC	0.632000													25	45					0	0	0.003330	0	0
AGAP11	119385	broad.mit.edu	37	10	88769657	88769657	+	RNA	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:88769657G>T	ENST00000444431.1	+	0	4257				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CGACGAGTGCGTGTAGTATCT	0.498000													28	140					4.92203e-23	8.54667e-23	0.006230	1	0
CACNA1E	777	broad.mit.edu	37	1	181745260	181745260	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:181745260C>A	ENST00000526775.1	+	37	5271	c.5106C>A	c.(5104-5106)gtC>gtA	p.V1702V	CACNA1E_ENST00000360108.3_Silent_p.V1702V|CACNA1E_ENST00000367567.4_Silent_p.V1328V|CACNA1E_ENST00000367573.2_Silent_p.V1721V|CACNA1E_ENST00000357570.5_Silent_p.V1672V|CACNA1E_ENST00000367570.1_Silent_p.V1721V|CACNA1E_ENST00000358338.5_Silent_p.V1653V	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1721					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V1721V(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGTGGCCGTCATCATGGACA	0.552000													25	443					3.73148e-12	5.75945e-12	0.007291	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84605870	84605870	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:84605870C>T	ENST00000344803.2	+	4	532	c.485C>T	c.(484-486)tCg>tTg	p.S162L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.S162L(2)									TTGGCTTCTTCGGCTTCTGCG	0.562000													17	69					0	0	0.006122	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521656	125521656	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:125521656C>A	ENST00000431078.1	+	16	2826	c.2462C>A	c.(2461-2463)aCc>aAc	p.T821N		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	821	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.T821N(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTTTTTAAAACCACAGCATTA	0.398000													6	179					5.9392e-07	7.92307e-07	0.001168	1	0
ZNF180	7733	broad.mit.edu	37	19	44981270	44981270	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:44981270C>G	ENST00000221327.4	-	5	1709	c.1428G>C	c.(1426-1428)caG>caC	p.Q476H	ZNF180_ENST00000391956.4_Missense_Mutation_p.Q451H|ZNF180_ENST00000592529.1_Missense_Mutation_p.Q449H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q476H(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTTTATAGCTCTGGATAAATG	0.363000													9	110					0	0	0.004482	0	0
RIMS2	9699	broad.mit.edu	37	8	105025734	105025734	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:105025734C>A	ENST00000507740.1	+	16	2787	c.2551C>A	c.(2551-2553)Ctt>Att	p.L851I	RIMS2_ENST00000406091.3_Missense_Mutation_p.L1037I|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Missense_Mutation_p.L876I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1099	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.L851I(2)|p.L1037I(1)|p.L1104I(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)			ACGGCCTCTCCTTGAGCGGAC	0.493000										HNSCC(12;0.0054)			38	64					1.03484e-13	1.62872e-13	0.005524	1	0
NUGGC	389643	broad.mit.edu	37	8	27922222	27922222	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:27922222G>A	ENST00000413272.2	-	7	880	c.738C>T	c.(736-738)gaC>gaT	p.D246D	NUGGC_ENST00000341513.6_Silent_p.D246D	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated									p.D246D(2)									GGATGTAGGGGTCCAGCTTGA	0.562000													27	30					0	0	0.005443	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581299	234581299	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:234581299C>G	ENST00000354728.4	+	1	801	c.719C>G	c.(718-720)aCg>aGg	p.T240R	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1												p.T240R(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		ACACCTGTTACGGAGTATGAT	0.428000													248	309					0	0	0.003610	0	0
ALPI	248	broad.mit.edu	37	2	233323382	233323382	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:233323382G>T	ENST00000295463.3	+	10	1301	c.1224G>T	c.(1222-1224)acG>acT	p.T408T		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	408					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.T408T(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AAGCCTACACGTCCATCCTGT	0.607000													19	25					1.87028e-06	2.39501e-06	0.001882	1	0
OR2A14	135941	broad.mit.edu	37	7	143826593	143826593	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:143826593C>T	ENST00000408899.2	+	1	443	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R130C(1)		large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					CCACCCCTTACGTTACAATAG	0.498000													12	268					0	0	0.000978	0	0
TPI1	7167	broad.mit.edu	37	12	6979285	6979285	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:6979285C>T	ENST00000229270.4	+	6	1064	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	TPI1_ENST00000535434.1_Missense_Mutation_p.R124C|TPI1_ENST00000488464.2_Missense_Mutation_p.R124C|TPI1_ENST00000396705.5_Missense_Mutation_p.R206C	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	206					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity	p.R206C(1)|p.R206S(1)|p.R243C(1)|p.R243S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TCAGAGCACCCGTATCATTTA	0.572000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	106					0	0	0.001984	0	0
OR1E2	8388	broad.mit.edu	37	17	3336321	3336321	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:3336321G>A	ENST00000248384.1	-	1	814	c.815C>T	c.(814-816)tCa>tTa	p.S272L		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	272					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						ACTATTAGCTGATGGGCATAA	0.488000													4	105					0	0	0.000248	0	0
LTBP1	4052	broad.mit.edu	37	2	33525618	33525618	+	Silent	SNP	G	G	A	rs139837372		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:33525618G>A	ENST00000404816.2	+	21	3689	c.3336G>A	c.(3334-3336)tcG>tcA	p.S1112S	LTBP1_ENST00000390003.4_Silent_p.S787S|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000418533.2_Silent_p.S786S|LTBP1_ENST00000404525.1_Silent_p.S733S|LTBP1_ENST00000272273.5_Silent_p.S52S|LTBP1_ENST00000402934.1_Silent_p.S733S|LTBP1_ENST00000407925.1_Silent_p.S786S|LTBP1_ENST00000354476.3_Silent_p.S1113S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1112	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.S1113S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCAGCTGTCGGCAGCTAAAG	0.468000													9	61					0	0	0.006214	0	0
SEC14L1	6397	broad.mit.edu	37	17	75208256	75208256	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:75208256G>T	ENST00000413679.2	+	15	2139	c.1836G>T	c.(1834-1836)ctG>ctT	p.L612L	SEC14L1_ENST00000436233.4_Silent_p.L612L|SEC14L1_ENST00000443798.4_Silent_p.L612L|SEC14L1_ENST00000430767.4_Silent_p.L612L|SEC14L1_ENST00000591437.1_Silent_p.L578L|SEC14L1_ENST00000585618.1_Silent_p.L612L|SEC14L1_ENST00000392476.2_Silent_p.L612L|SEC14L1_ENST00000431431.2_Silent_p.L578L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	612	GOLD.				transport	Golgi apparatus|integral to membrane	binding	p.P611fs*11(1)|p.L612L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGTCGCCTCTGATCTGCAAAG	0.552000													64	192					4.83677e-39	8.78039e-39	0.003610	1	0
GPR174	84636	broad.mit.edu	37	X	78426624	78426624	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:78426624C>A	ENST00000276077.1	+	1	156	c.120C>A	c.(118-120)gcC>gcA	p.A40A		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	40						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A40A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						ATATATTAGCCCTGTGGGTAT	0.383000										HNSCC(63;0.18)			7	26					2.7689e-08	3.87161e-08	0.001984	1	0
DRG2	1819	broad.mit.edu	37	17	18002385	18002385	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:18002385G>A	ENST00000225729.3	+	4	508	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	DRG2_ENST00000395726.4_Missense_Mutation_p.A124T|DRG2_ENST00000583355.1_Intron	NM_001388.4	NP_001379.1	P55039	DRG2_HUMAN	developmentally regulated GTP binding protein 2	124	G.				signal transduction		GTP binding	p.A124T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TGAAGGCGCAGCCCAAGGTGG	0.547000													5	83					0	0	0.001168	0	0
FHL2	2274	broad.mit.edu	37	2	105977848	105977848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:105977848C>T	ENST00000409177.1	-	6	1201	c.1080G>A	c.(1078-1080)tgG>tgA	p.W360*	FHL2_ENST00000393353.3_Nonsense_Mutation_p.W244*|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000393352.3_Nonsense_Mutation_p.W244*|FHL2_ENST00000322142.8_Nonsense_Mutation_p.W244*|FHL2_ENST00000408995.1_Nonsense_Mutation_p.W244*|FHL2_ENST00000409807.1_Nonsense_Mutation_p.W244*|FHL2_ENST00000344213.4_Nonsense_Mutation_p.W354*|FHL2_ENST00000358129.4_Nonsense_Mutation_p.W244*			Q14192	FHL2_HUMAN	four and a half LIM domains 2	244					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						AGTCGTTATGCCACTGCCGTT	0.498000													4	83					0	0	0.000248	0	0
ZNF76	7629	broad.mit.edu	37	6	35260373	35260373	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:35260373G>A	ENST00000373953.3	+	10	1240	c.974G>A	c.(973-975)cGc>cAc	p.R325H	ZNF76_ENST00000339411.5_Missense_Mutation_p.R325H|ZNF76_ENST00000440666.2_Missense_Mutation_p.R299H	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	325					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R325H(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TGCGGGAAACGCTTCACCGAG	0.617000													10	49					0	0	0.000978	0	0
BGN	633	broad.mit.edu	37	X	152770113	152770113	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:152770113G>T	ENST00000331595.4	+	2	210	c.24G>T	c.(22-24)gtG>gtT	p.V8V	BGN_ENST00000370204.1_5'UTR|BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	8						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent	p.S9T(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCTCGTGTCTCTGCTGG	0.627000													24	42					5.35356e-11	7.97418e-11	0.002780	1	0
JAM2	58494	broad.mit.edu	37	21	27071084	27071084	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr21:27071084C>A	ENST00000480456.1	+	5	1040	c.490C>A	c.(490-492)Cct>Act	p.P164T	JAM2_ENST00000425221.2_Missense_Mutation_p.P128T|JAM2_ENST00000312957.5_Missense_Mutation_p.P164T|JAM2_ENST00000400532.1_Missense_Mutation_p.P164T	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	164	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.P164T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GAATCCAGCTCCTGAATACAC	0.463000													29	45					1.04121e-07	1.43083e-07	0.005443	1	0
ZNF578	147660	broad.mit.edu	37	19	53014138	53014138	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:53014138C>G	ENST00000421239.2	+	6	748	c.504C>G	c.(502-504)caC>caG	p.H168Q		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H168Q(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		CTGAACTCCACATATTTCAGC	0.413000													10	227					0	0	0.006214	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65713225	65713225	+	RNA	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:65713225C>T	ENST00000532620.1	+	0	310							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GCAGGACGTGCGGCTCCAGGC	0.617000													4	74					0	0	0.000248	0	0
SNX25	83891	broad.mit.edu	37	4	186231802	186231802	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:186231802G>T	ENST00000504273.1	+	7	978	c.684G>T	c.(682-684)gcG>gcT	p.A228A	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Silent_p.A228A			Q9H3E2	SNX25_HUMAN	sorting nexin 25	228					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	p.A228A(1)		NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AAGAAACTGCGGCAATGAAAG	0.478000													12	56					1.61879e-10	2.3725e-10	0.001368	1	0
DOCK2	1794	broad.mit.edu	37	5	169509853	169509853	+	Silent	SNP	G	G	A	rs140198889	byFrequency	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:169509853G>A	ENST00000256935.8	+	52	5564	c.5484G>A	c.(5482-5484)acG>acA	p.T1828T	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Silent_p.T1320T|DOCK2_ENST00000540750.1_Silent_p.T889T	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1828					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.T1828T(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCTGTCCACGGACCTGTGAG	0.522000													12	40					0	0	0.001368	0	0
OPHN1	4983	broad.mit.edu	37	X	67417059	67417059	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:67417059A>C	ENST00000355520.5	-	12	1714	c.1073T>G	c.(1072-1074)cTa>cGa	p.L358R	OPHN1_ENST00000540071.1_Missense_Mutation_p.L358R	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	358	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	p.L358R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTCCATCCATAGCCTTCTGTT	0.473000													16	86					0	0	0.004007	0	0
CSMD3	114788	broad.mit.edu	37	8	113668560	113668560	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:113668560C>A	ENST00000297405.5	-	18	3071	c.2827G>T	c.(2827-2829)Gaa>Taa	p.E943*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.E839*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.E943*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.E903*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	943	CUB 5.					integral to membrane|plasma membrane		p.E903*(1)|p.E943*(1)		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						TAATTCAGTTCAGTCTGAAAT	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	67					7.48243e-07	9.89911e-07	0.006214	1	0
LRP1B	53353	broad.mit.edu	37	2	141274503	141274503	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:141274503C>T	ENST00000389484.3	-	50	9075	c.8104G>A	c.(8104-8106)Gat>Aat	p.D2702N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2702	LDL-receptor class A 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D2702N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCTGACCATCGCATATCCAG	0.328000										TSP Lung(27;0.18)			6	74					0	0	0.001168	0	0
C1orf168	199920	broad.mit.edu	37	1	57257990	57257990	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:57257990C>A	ENST00000343433.6	-	2	576	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	166								p.A166S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						AGATGGATGGCCTTACTTCCA	0.483000													6	121					0.00116845	0.0013309	0.001168	1	0
USP11	8237	broad.mit.edu	37	X	47107228	47107228	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:47107228G>A	ENST00000377107.2	+	21	3016	c.2662G>A	c.(2662-2664)Gac>Aac	p.D888N	USP11_ENST00000218348.3_Missense_Mutation_p.D931N			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	931					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D931N(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCAACGCCAGGACGTGGCGCG	0.622000													7	46					0	0	0.003080	0	0
USP29	57663	broad.mit.edu	37	19	57641161	57641161	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:57641161C>A	ENST00000254181.4	+	4	1572	c.1118C>A	c.(1117-1119)gCt>gAt	p.A373D	USP29_ENST00000598197.1_Missense_Mutation_p.A373D	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	373					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.A373V(1)|p.A373D(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAATGATGCTCATGAGTTT	0.353000													12	77					7.93312e-07	1.04306e-06	0.002450	1	0
CPNE4	131034	broad.mit.edu	37	3	131388542	131388542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:131388542C>A	ENST00000512055.1	-	11	2784	c.658G>T	c.(658-660)Gga>Tga	p.G220*	CPNE4_ENST00000502818.1_Nonsense_Mutation_p.G238*|CPNE4_ENST00000511604.1_Nonsense_Mutation_p.G220*|CPNE4_ENST00000429747.1_Nonsense_Mutation_p.G220*|CPNE4_ENST00000512332.1_Nonsense_Mutation_p.G238*			Q96A23	CPNE4_HUMAN	copine IV	220	C2 2.							p.G220L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCTGGGTCTCCGCTGCATAGA	0.383000													65	137					3.00472e-47	5.51729e-47	0.003610	1	0
DDN	23109	broad.mit.edu	37	12	49391858	49391858	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:49391858C>T	ENST00000421952.2	-	2	822	c.801G>A	c.(799-801)ggG>ggA	p.G267G		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	267						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		p.G213G(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCTTTGTGCGCCCTCCGTCTG	0.647000													14	83					0	0	0.004007	0	0
ANPEP	290	broad.mit.edu	37	15	90348375	90348375	+	Silent	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:90348375C>G	ENST00000300060.6	-	4	1144	c.831G>C	c.(829-831)acG>acC	p.T277T		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	277	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.T277T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCAGCAAGTACGTGGACATCT	0.567000													28	171					0	0	0.005443	0	0
TRMT61B	55006	broad.mit.edu	37	2	29092772	29092772	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:29092772C>A	ENST00000306108.5	-	1	395	c.372G>T	c.(370-372)atG>atT	p.M124I		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	124							tRNA (adenine-N1-)-methyltransferase activity	p.M124I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CCTGCGAGAGCATCGAAGGAT	0.617000													24	47					1.64293e-13	2.56683e-13	0.003330	1	0
PEAK1	79834	broad.mit.edu	37	15	77471865	77471865	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:77471865C>A	ENST00000560626.2	-	4	2879	c.2404G>T	c.(2404-2406)Gat>Tat	p.D802Y	PEAK1_ENST00000558305.1_Missense_Mutation_p.D802Y|PEAK1_ENST00000312493.4_Missense_Mutation_p.D802Y			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	802	Pro-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.D802Y(2)									ACATCAGCATCTGGAGGAATG	0.512000													21	127					1.10923e-09	1.60725e-09	0.002780	1	0
UGT2B15	7366	broad.mit.edu	37	4	69533796	69533796	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:69533796C>A	ENST00000338206.5	-	2	844	c.835G>T	c.(835-837)Gga>Tga	p.G279*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	279					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TGAAGTCCTCCAACAAAATCA	0.388000													4	238					0.00024832	0.000293302	0.000248	1	0
LAMB2	3913	broad.mit.edu	37	3	49161443	49161443	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:49161443C>A	ENST00000418109.1	-	25	3679	c.3515G>T	c.(3514-3516)cGc>cTc	p.R1172L	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1172L	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1172	Laminin EGF-like 13.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R1172L(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGTCACAGCGCACACCAGA	0.582000													9	47					1.58986e-06	2.04411e-06	0.008291	1	0
STARD7	56910	broad.mit.edu	37	2	96860740	96860740	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:96860740C>G	ENST00000337288.5	-	3	888	c.505G>C	c.(505-507)Gga>Cga	p.G169R	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	169	START.					mitochondrion		p.G169R(1)|p.G94R(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						GTGTAGGTTCCAAAAACTAGA	0.423000													7	14					0	0	0.003080	0	0
ALOX5	240	broad.mit.edu	37	10	45941036	45941036	+	Silent	SNP	C	C	A	rs28395861	byFrequency	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:45941036C>A	ENST00000374391.2	+	14	1979	c.1926C>A	c.(1924-1926)ctC>ctA	p.L642L	ALOX5_ENST00000542434.1_Silent_p.L585L|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	642	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	p.L642L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GCAAGAACCTCGAGGCCATTG	0.542000													25	71					1.04121e-07	1.43083e-07	0.005443	1	0
SEC31A	22872	broad.mit.edu	37	4	83799966	83799966	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:83799966T>A	ENST00000432794.1	-	4	482	c.319A>T	c.(319-321)Ata>Tta	p.I107L	SEC31A_ENST00000505472.1_Missense_Mutation_p.I107L|SEC31A_ENST00000513858.1_Missense_Mutation_p.I107L|SEC31A_ENST00000448323.1_Missense_Mutation_p.I107L|SEC31A_ENST00000311785.7_Missense_Mutation_p.I107L|SEC31A_ENST00000443462.2_Missense_Mutation_p.I102L|SEC31A_ENST00000355196.2_Missense_Mutation_p.I107L|SEC31A_ENST00000326950.5_Missense_Mutation_p.I107L|SEC31A_ENST00000395310.2_Missense_Mutation_p.I107L|SEC31A_ENST00000500777.2_Missense_Mutation_p.I107L|SEC31A_ENST00000509142.1_Missense_Mutation_p.I107L|SEC31A_ENST00000505984.1_Missense_Mutation_p.I107L|SEC31A_ENST00000508502.1_Missense_Mutation_p.I107L|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000508479.1_Missense_Mutation_p.I107L|SEC31A_ENST00000348405.4_Missense_Mutation_p.I107L			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	107					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	p.I107L(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCTCCAGCTATAATTTTAGAA	0.403000													14	65					0	0	0.001855	0	0
RRN3	54700	broad.mit.edu	37	16	15155638	15155638	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:15155638G>A	ENST00000198767.6	-	18	2002	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F	RRN3_ENST00000540462.1_Missense_Mutation_p.S458F|RRN3_ENST00000429751.2_Missense_Mutation_p.S610F|RRN3_ENST00000327307.7_Missense_Mutation_p.S607F|RRN3_ENST00000563559.1_Intron|PDXDC1_ENST00000535621.2_Intron	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	640	Interaction with EIF3L.|Interaction with TWISTNB.				regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm		p.S640F(1)		NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						CACGGGTGGGGAGCCCACACT	0.517000													17	86					0	0	0.004007	0	0
UBQLN4	56893	broad.mit.edu	37	1	156020953	156020953	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:156020953C>A	ENST00000368309.3	-	3	518	c.426G>T	c.(424-426)ggG>ggT	p.G142G	UBQLN4_ENST00000472638.1_5'UTR|UBQLN4_ENST00000368307.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	142						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	p.G142G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					CCGGAGAGGGCCCCCCACCAC	0.647000													15	28					1.5739e-10	2.32806e-10	0.004007	1	0
HIST2H2BB	338391	broad.mit.edu	37	1	149378159	149378159	+	RNA	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:149378159C>A	ENST00000415338.1	-	0	1061																											GGGTGGCCATCGATCTGGACC	0.562000													24	41					3.11337e-16	5.04936e-16	0.002836	1	0
NLRP5	126206	broad.mit.edu	37	19	56538820	56538820	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:56538820C>A	ENST00000390649.3	+	7	1221	c.1221C>A	c.(1219-1221)gtC>gtA	p.V407V		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	407	NACHT.					mitochondrion|nucleolus	ATP binding	p.V407V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCTGATCGTCACCGTCAGAG	0.547000													9	24					5.4927e-09	7.81701e-09	0.004482	1	0
OR2G3	81469	broad.mit.edu	37	1	247769209	247769209	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:247769209G>T	ENST00000320002.2	+	1	354	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G108C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCTGGCACTGGGCTCCACTGA	0.488000													138	306					7.47599e-62	1.38871e-61	0.003610	1	0
ARID3C	138715	broad.mit.edu	37	9	34627776	34627776	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:34627776C>A	ENST00000378909.2	-	1	328	c.236G>T	c.(235-237)gGg>gTg	p.G79V		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G79V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GCCCTGGGCCCCTGGACGGCT	0.622000													17	29					1.67942e-08	2.36376e-08	0.006122	1	0
CD1B	910	broad.mit.edu	37	1	158300661	158300661	+	Missense_Mutation	SNP	C	C	G	rs149817745	byFrequency	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:158300661C>G	ENST00000368168.3	-	2	360	c.253G>C	c.(253-255)Gag>Cag	p.E85Q		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	85					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.E85Q(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AATATCTCCTCTAACTCAGCA	0.458000													67	624					0	0	0.003610	0	0
LAMB4	22798	broad.mit.edu	37	7	107752392	107752392	+	Splice_Site	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:107752392C>A	ENST00000388781.3	-	4	276		c.e4-1		LAMB4_ENST00000388780.3_Splice_Site|LAMB4_ENST00000414450.2_Splice_Site|LAMB4_ENST00000205386.4_Splice_Site	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4						cell adhesion	basement membrane		p.?(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTGTTCCCCCTGGAAAACAC	0.338000													18	71					0.00074312	0.000857137	0.006122	1	0
TRPM6	140803	broad.mit.edu	37	9	77377953	77377953	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:77377953G>A	ENST00000451710.3	-	26	3871	c.3634C>T	c.(3634-3636)Cag>Tag	p.Q1212*	TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Q1207*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Q1212*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Q1207*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Q1212*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1212					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q1212*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGAGATCCTGCAGGTGTCCC	0.468000													24	114					0	0	0.004656	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606414	82606414	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:82606414C>A	ENST00000518568.1	-	1	1995	c.794G>T	c.(793-795)gGt>gTt	p.G265V		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	265						integral to membrane	bile acid:sodium symporter activity	p.G265F(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ATGGAATGTACCTGACAACCC	0.353000													18	85					1.2644e-06	1.64553e-06	0.001523	1	0
CENPF	1063	broad.mit.edu	37	1	214820636	214820636	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:214820636A>G	ENST00000366955.3	+	13	7891	c.7723A>G	c.(7723-7725)Aaa>Gaa	p.K2575E		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2671	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.K2575E(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCTACAATCCAAAAATGCCTC	0.418000													4	67					0	0	0.000248	0	0
CDH6	1004	broad.mit.edu	37	5	31299613	31299613	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:31299613G>A	ENST00000265071.2	+	5	951	c.686G>A	c.(685-687)aGg>aAg	p.R229K	CDH6_ENST00000514738.1_Missense_Mutation_p.R174K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	229	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R229K(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGAGAAAACAGGGAGCAGTAC	0.448000													25	120					0	0	0.005443	0	0
L1CAM	3897	broad.mit.edu	37	X	153136381	153136381	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:153136381C>A	ENST00000370060.1	-	7	747	c.558G>T	c.(556-558)acG>acT	p.T186T	L1CAM_ENST00000543994.1_Silent_p.T188T|L1CAM_ENST00000538883.1_Silent_p.T188T|L1CAM_ENST00000370057.3_Silent_p.T186T|L1CAM_ENST00000361699.4_Silent_p.T186T|L1CAM_ENST00000361981.3_Silent_p.T181T|L1CAM_ENST00000370055.1_Silent_p.T181T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	186	Ig-like C2-type 2.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.T186T(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGGCCCATCGTCACCCGCT	0.602000													19	145					7.45023e-12	1.1362e-11	0.001523	1	0
FAM50A	9130	broad.mit.edu	37	X	153678642	153678642	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:153678642C>A	ENST00000393600.3	+	12	1096	c.986C>A	c.(985-987)cCt>cAt	p.P329H		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	329					spermatogenesis	nucleus		p.P329H(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTACGACCCTGAAAAGAAG	0.612000													13	98					9.31168e-06	1.1736e-05	0.001855	1	0
ZNF445	353274	broad.mit.edu	37	3	44496938	44496938	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:44496938T>C	ENST00000425708.2	-	2	445	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	ZNF445_ENST00000396077.2_Missense_Mutation_p.Y35C			P59923	ZN445_HUMAN	zinc finger protein 445	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y35C(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CACTGGAGTATAGCTTTCATC	0.592000													33	96					0	0	0.002836	0	0
OR5T2	219464	broad.mit.edu	37	11	56000616	56000616	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:56000616G>C	ENST00000313264.4	-	1	121	c.46C>G	c.(46-48)Cat>Gat	p.H16D		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H16D(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					ACAACACCATGACTCAAGGGG	0.348000													18	102					0	0	0.001523	0	0
TTC21B	79809	broad.mit.edu	37	2	166773863	166773863	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:166773863G>A	ENST00000243344.7	-	14	1940	c.1803C>T	c.(1801-1803)tcC>tcT	p.S601S		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	601						cilium axoneme|cytoplasm|cytoskeleton	binding	p.S601S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTGATTTTGTGGAAGCTCCAA	0.373000													5	127					0	0	0.001168	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506100	44506100	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:44506100C>T	ENST00000255152.2	+	2	1112	c.903C>T	c.(901-903)gcC>gcT	p.A301A	ZSWIM3_ENST00000454862.2_Silent_p.A295A	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	301							zinc ion binding	p.A301A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TTCCTGCTGCCCGCATCCTCC	0.502000													12	77					0	0	0.000978	0	0
CPS1	1373	broad.mit.edu	37	2	211456608	211456608	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:211456608C>A	ENST00000233072.5	+	10	1197	c.1001C>A	c.(1000-1002)gCt>gAt	p.A334D	CPS1_ENST00000430249.2_Missense_Mutation_p.A340D	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	334	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A340D(1)|p.A334D(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTCATTACTGCTCAGAATCAT	0.413000													10	91					2.17888e-05	2.68266e-05	0.006214	1	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	54					0	0	0.003080	0	0
GPR64	10149	broad.mit.edu	37	X	19031948	19031948	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:19031948G>A	ENST00000379878.3	-	15	1148	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	GPR64_ENST00000379873.2_Missense_Mutation_p.P319S|GPR64_ENST00000340581.3_Missense_Mutation_p.P289S|GPR64_ENST00000360279.4_Missense_Mutation_p.P297S|GPR64_ENST00000354791.3_Missense_Mutation_p.P303S|GPR64_ENST00000357991.3_Missense_Mutation_p.P316S|GPR64_ENST00000357544.3_Missense_Mutation_p.P289S|GPR64_ENST00000379869.3_Missense_Mutation_p.P319S|GPR64_ENST00000356606.4_Missense_Mutation_p.P305S|GPR64_ENST00000379876.1_Missense_Mutation_p.P295S	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	319					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GACTGTGGGGGCATGTCAATG	0.562000													4	176					0	0	0.000248	0	0
SEPT14	346288	broad.mit.edu	37	7	55912315	55912315	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:55912315A>T	ENST00000388975.3	-	4	388	c.272T>A	c.(271-273)cTt>cAt	p.L91H	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	91					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGAATTTGAAGTCCAACATT	0.368000													6	324					0	0	0.001168	0	0
FCAR	2204	broad.mit.edu	37	19	55401199	55401199	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:55401199C>T	ENST00000355524.3	+	5	844	c.834C>T	c.(832-834)acC>acT	p.T278T	FCAR_ENST00000353758.4_Silent_p.T169T|FCAR_ENST00000391723.3_3'UTR|FCAR_ENST00000359272.4_Silent_p.T266T|FCAR_ENST00000391726.3_Silent_p.T170T|FCAR_ENST00000391725.3_Silent_p.T256T|FCAR_ENST00000345937.4_Silent_p.T182T|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000391724.3_Silent_p.T244T	NM_002000.2	NP_001991.1	P24071	FCAR_HUMAN	Fc fragment of IgA, receptor for	278					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity	p.T278T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CAGGATTGACCTTTGCACGAA	0.527000													13	125					0	0	0.001368	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20563737	20563737	+	Silent	SNP	A	A	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:20563737A>C	ENST00000202677.6	-	20	2806	c.2664T>G	c.(2662-2664)cgT>cgG	p.R888R		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	888					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.R888R(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTAACCAATGACGGGCATCAG	0.478000													6	65					0	0	0.001168	0	0
XIRP2	129446	broad.mit.edu	37	2	167760365	167760365	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:167760365A>G	ENST00000409195.1	+	2	462	c.373A>G	c.(373-375)Aag>Gag	p.K125E	XIRP2_ENST00000409756.2_Missense_Mutation_p.K125E|XIRP2_ENST00000409728.1_Missense_Mutation_p.K125E|XIRP2_ENST00000409043.1_Missense_Mutation_p.K125E|XIRP2_ENST00000295237.9_Missense_Mutation_p.K125E|XIRP2_ENST00000420519.1_Missense_Mutation_p.K125E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.K125E(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGAGGCTCCTAAGAGTGGAAA	0.483000													10	125					0	0	0.000978	0	0
PILRB	29990	broad.mit.edu	37	7	99956683	99956683	+	Nonsense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:99956683C>T	ENST00000444874.1	+	15	2126	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	PILRB_ENST00000310771.4_Silent_p.T145T|PILRB_ENST00000452089.1_Silent_p.T145T|PILRB_ENST00000448382.1_Nonsense_Mutation_p.Q198*|PILRB_ENST00000444073.1_Silent_p.T145T			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity	p.T145T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCAAGGGGACCAAACTCACCA	0.567000													20	48					0	0	0.007413	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20369153	20369153	+	RNA	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:20369153G>T	ENST00000593655.1	-	0	199																											taactcgctagggtacaacaA	0.443000													6	63					0.00116845	0.0013309	0.001168	1	0
ENOX2	10495	broad.mit.edu	37	X	129771317	129771317	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:129771317G>T	ENST00000338144.3	-	12	1701	c.1284C>A	c.(1282-1284)taC>taA	p.Y428*	ENOX2_ENST00000394363.1_Nonsense_Mutation_p.Y399*|ENOX2_ENST00000370935.1_Nonsense_Mutation_p.Y399*|ENOX2_ENST00000370927.1_Nonsense_Mutation_p.Y428*	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	428					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	p.Y428*(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CTTCATTCCGGTAGGCATCGA	0.443000													37	299					1.57351e-24	2.77756e-24	0.003755	1	0
GLYATL2	219970	broad.mit.edu	37	11	58605840	58605840	+	Splice_Site	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:58605840A>T	ENST00000287275.1	-	3	470	c.78_splice	c.e3-1	p.V27_splice	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Splice_Site_p.V27_splice	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	27						mitochondrion	glycine N-acyltransferase activity	p.V27E(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GGCGCCATATACCTACGATGC	0.418000													3	55					0	0	0.004672	0	0
A2M	2	broad.mit.edu	37	12	9243913	9243913	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:9243913A>G	ENST00000318602.7	-	19	2660	c.2353T>C	c.(2353-2355)Tct>Cct	p.S785P		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	785					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	p.S785P(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCTCGGAGAGAGGCAGTGGAA	0.552000													16	89					0	0	0.004007	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531776	140531776	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:140531776C>A	ENST00000231136.1	+	1	1938	c.1938C>A	c.(1936-1938)ggC>ggA	p.G646G	PCDHB6_ENST00000543635.1_Silent_p.G510G	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		646	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.G646G(1)		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)			AGGACAATGGCGAGCCTCCGC	0.706000													17	59					1.55795e-14	2.48882e-14	0.001882	1	0
POMGNT1	55624	broad.mit.edu	37	1	46658031	46658031	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:46658031C>T	ENST00000371992.1	-	16	2012	c.1362G>A	c.(1360-1362)agG>agA	p.R454R	POMGNT1_ENST00000535522.1_Silent_p.R432R|POMGNT1_ENST00000371986.3_Silent_p.R454R|POMGNT1_ENST00000371984.3_Silent_p.R454R|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000396420.3_3'UTR	NM_001243766.1	NP_001230695.1	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	454					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	p.R454R(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACAAGGACCTCCTGAGCACCC	0.602000													9	68					0	0	0.004482	0	0
PPOX	5498	broad.mit.edu	37	1	161138874	161138874	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:161138874G>A	ENST00000367999.4	+	7	974	c.708G>A	c.(706-708)ttG>ttA	p.L236L	PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Silent_p.L236L	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	236					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	p.P237S(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TAGAGATGTTGCCTCAGGCCC	0.632000													53	90					0	0	0.003610	0	0
NBEA	26960	broad.mit.edu	37	13	35630253	35630253	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr13:35630253T>G	ENST00000540320.1	+	7	1613	c.1079T>G	c.(1078-1080)gTt>gGt	p.V360G	NBEA_ENST00000310336.4_Missense_Mutation_p.V360G|NBEA_ENST00000400445.3_Missense_Mutation_p.V360G|NBEA_ENST00000379939.2_Missense_Mutation_p.V360G			Q8NFP9	NBEA_HUMAN	neurobeachin	360						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.V360G(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCTTGGCATGTTAACACAAAT	0.313000													17	50					0	0	0.004990	0	0
IGKV1D-33	28896	broad.mit.edu	37	2	89952919	89952919	+	RNA	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:89952919G>T	ENST00000390265.2	+	0	128																											TGGGGCTCCTGCTGCTCTGGC	0.522000													34	59					6.2361e-21	1.0459e-20	0.007835	1	0
DMD	1756	broad.mit.edu	37	X	32466686	32466686	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:32466686T>C	ENST00000357033.4	-	27	3879	c.3673A>G	c.(3673-3675)Ata>Gta	p.I1225V	DMD_ENST00000378677.2_Missense_Mutation_p.I1221V	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1225					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTTGAGCTATGACACTATTT	0.418000													4	74					0	0	0.000248	0	0
L1CAM	3897	broad.mit.edu	37	X	153130448	153130448	+	Splice_Site	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:153130448C>A	ENST00000370060.1	-	23	3063	c.2872_splice	c.e23-1	p.L958_splice	L1CAM_ENST00000543994.1_Splice_Site_p.L960_splice|L1CAM_ENST00000538883.1_Splice_Site_p.L960_splice|L1CAM_ENST00000370057.3_Splice_Site_p.L958_splice|L1CAM_ENST00000361699.4_Splice_Site_p.L958_splice|L1CAM_ENST00000361981.3_Splice_Site_p.L953_splice|L1CAM_ENST00000370055.1_Splice_Site_p.L953_splice	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	958	Fibronectin type-III 4.		L -> V (in dbSNP:rs35902890).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.L958L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCTCATCCACTGTGGGGA	0.682000													9	157					3.09899e-07	4.17775e-07	0.004482	1	0
OR2A12	346525	broad.mit.edu	37	7	143792543	143792543	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:143792543G>T	ENST00000408949.2	+	1	403	c.343G>T	c.(343-345)Gtg>Ttg	p.V115L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V115L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTGATTTTGGTGATGATGTG	0.433000													49	116					1.61004e-24	2.8342e-24	0.003610	1	0
RXFP3	51289	broad.mit.edu	37	5	33937505	33937505	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:33937505G>C	ENST00000330120.3	+	1	1015	c.660G>C	c.(658-660)tgG>tgC	p.W220C		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	220						integral to plasma membrane	N-formyl peptide receptor activity	p.W220C(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						TGTGTGTGTGGATCTGGGCTT	0.677000													8	41					0	0	0.003080	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962484	73962484	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:73962484G>T	ENST00000373468.1	-	3	2559	c.1908C>A	c.(1906-1908)caC>caA	p.H636Q	KIAA2022_ENST00000055682.5_Missense_Mutation_p.H636Q			Q5QGS0	K2022_HUMAN	KIAA2022	636					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.H636Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTTGAATCCTGTGCCTGTTGC	0.403000													4	29					0.00024832	0.000293302	0.000248	1	0
HRNR	388697	broad.mit.edu	37	1	152188096	152188096	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:152188096G>A	ENST00000368801.2	-	3	6084	c.6009C>T	c.(6007-6009)taC>taT	p.Y2003Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2003					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGACCGTAGCCAGAGG	0.567000													17	1852					0	0	0.004672	0	0
SUPT6H	6830	broad.mit.edu	37	17	27009766	27009766	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:27009766G>C	ENST00000314616.6	+	14	1902	c.1619G>C	c.(1618-1620)gGg>gCg	p.G540A	SUPT6H_ENST00000347486.4_Missense_Mutation_p.G540A	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	540					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.G540S(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAAAAGTTTGGGCTTACTCCC	0.532000													30	87					0	0	0.002096	0	0
TNFAIP3	7128	broad.mit.edu	37	6	138199923	138199923	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:138199923G>T	ENST00000237289.4	+	7	1407	c.1341G>T	c.(1339-1341)gcG>gcT	p.A447A		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	447	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.A447A(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AGCCCTTGGCGTGGAACCCTG	0.627000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""								17	34					4.14922e-12	6.35815e-12	0.004007	1	0
ATN1	1822	broad.mit.edu	37	12	7048172	7048172	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:7048172T>A	ENST00000356654.4	+	7	3283	c.3046T>A	c.(3046-3048)Tcc>Acc	p.S1016T	ATN1_ENST00000396684.2_Missense_Mutation_p.S1016T	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1016					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.S1016T(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCTGACATGTCCTATGCTGA	0.667000													5	82					0	0	0.000602	0	0
DCBLD1	285761	broad.mit.edu	37	6	117861841	117861841	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:117861841G>T	ENST00000338728.5	+	10	1232	c.1112G>T	c.(1111-1113)gGt>gTt	p.G371V	DCBLD1_ENST00000296955.8_Missense_Mutation_p.G371V|DCBLD1_ENST00000368503.4_Intron|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000534777.1_3'UTR			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	371	F5/8 type C.				cell adhesion	integral to membrane		p.G371V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		GTGTTTCAGGGTAACTCTAAC	0.428000													12	100					2.27111e-07	3.06816e-07	0.001368	1	0
LRP1B	53353	broad.mit.edu	37	2	141707905	141707905	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:141707905C>G	ENST00000389484.3	-	20	4006	c.3035G>C	c.(3034-3036)aGa>aCa	p.R1012T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1012	LDL-receptor class A 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R1012T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGGAACATCTGAACTGATT	0.488000										TSP Lung(27;0.18)			13	61					0	0	0.003163	0	0
IGKV1-27	28935	broad.mit.edu	37	2	89513367	89513367	+	RNA	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:89513367G>A	ENST00000498435.1	-	0	46																											AGCTGAGCAGGGACCCTCATG	0.522000													13	77					0	0	0.004007	0	0
RASSF2	9770	broad.mit.edu	37	20	4776594	4776594	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:4776594C>A	ENST00000379400.3	-	5	349	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L	RASSF2_ENST00000379376.2_Missense_Mutation_p.V52L	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	52					cell cycle|signal transduction	nucleus	protein binding	p.V52L(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AGCCCCTCCACAATGAACTCG	0.562000													17	59					9.7654e-05	0.000117738	0.007413	1	0
FER1L6	654463	broad.mit.edu	37	8	125076699	125076699	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:125076699C>A	ENST00000522917.1	+	26	3646	c.3440C>A	c.(3439-3441)cCc>cAc	p.P1147H	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.P1147H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1147						integral to membrane		p.P1147H(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACAGTGGTGCCCGACTCTGCC	0.607000													46	71					4.75955e-12	7.27596e-12	0.003610	1	0
CERS4	79603	broad.mit.edu	37	19	8320764	8320764	+	Splice_Site	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:8320764G>A	ENST00000558331.1	+	6	774		c.e6+1		CERS4_ENST00000251363.5_Splice_Site|CERS4_ENST00000559450.1_Splice_Site|CERS4_ENST00000559336.1_Splice_Site|CERS4_ENST00000595722.1_Splice_Site			Q9HA82	CERS4_HUMAN	ceramide synthase 4							endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										CCTGTACCACGTGAGTATACC	0.587000													4	72					0	0	0.000248	0	0
MAPK7	5598	broad.mit.edu	37	17	19283155	19283155	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:19283155G>A	ENST00000308406.5	+	3	679	c.293G>A	c.(292-294)cGg>cAg	p.R98Q	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Missense_Mutation_p.R98Q|MAPK7_ENST00000299612.7_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.R98Q	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	98	Protein kinase.|Required for binding to MAP2K5 (By similarity).				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	p.R98Q(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AATGCCAAGCGGACCCTCAGG	0.527000													9	140					0	0	0.008291	0	0
OR2T33	391195	broad.mit.edu	37	1	248436320	248436320	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:248436320G>T	ENST00000318021.2	-	1	818	c.797C>A	c.(796-798)aCt>aAt	p.T266N		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T266N(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTCATGGTTAGTGGACCTATG	0.478000													105	245					1.70018e-41	3.11294e-41	0.003610	1	0
ZZZ3	26009	broad.mit.edu	37	1	78098198	78098198	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:78098198T>C	ENST00000370801.3	-	5	1317	c.842A>G	c.(841-843)aAa>aGa	p.K281R	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K281R(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AGTTACTATTTTGTGGTCCTC	0.443000													55	91					0	0	0.003610	0	0
TEX15	56154	broad.mit.edu	37	8	30706087	30706087	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:30706087A>T	ENST00000256246.2	-	1	521	c.447T>A	c.(445-447)tgT>tgA	p.C149*		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	149								p.C149*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTGGTCCTTACATTGCCCTG	0.433000													35	63					0	0	0.002836	0	0
CCDC180	100499483	broad.mit.edu	37	9	100056343	100056343	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:100056343C>T	ENST00000357054.1	+	13	1136	c.201C>T	c.(199-201)gcC>gcT	p.A67A	CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000375205.2_Silent_p.A107A|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Silent_p.A67A|CCDC180_ENST00000411667.2_5'UTR|RP11-23J9.5_ENST00000375204.2_RNA					coiled-coil domain containing 180									p.A67A(1)									GGCTGATTGCCCGCATCGACA	0.572000													6	119					0	0	0.001168	0	0
SPARC	6678	broad.mit.edu	37	5	151051154	151051154	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:151051154G>T	ENST00000231061.4	-	5	623	c.310C>A	c.(310-312)Ccc>Acc	p.P104T		NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	104	Kazal-like.				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	p.P104T(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TCGCCAATGGGGGCTGGGCAG	0.597000													8	198					7.48243e-07	9.89911e-07	0.006214	1	0
PKD1	5310	broad.mit.edu	37	16	2164306	2164306	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:2164306C>A	ENST00000262304.4	-	11	2926	c.2718G>T	c.(2716-2718)gaG>gaT	p.E906D	PKD1_ENST00000423118.1_Missense_Mutation_p.E906D	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	906	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.E906D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACCACGTGCTCCCCCTCAC	0.687000													9	35					0.000673444	0.000778175	0.008291	1	0
EPHA5	2044	broad.mit.edu	37	4	66467645	66467645	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:66467645C>G	ENST00000273854.3	-	3	1224	c.624G>C	c.(622-624)aaG>aaC	p.K208N	EPHA5_ENST00000511294.1_Missense_Mutation_p.K208N|EPHA5_ENST00000354839.4_Missense_Mutation_p.K208N|EPHA5_ENST00000432638.2_Missense_Mutation_p.K208N	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	208					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.K208_G209>N*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GATAAAATCCCTTTTTGCTTA	0.418000										TSP Lung(17;0.13)			5	75					0	0	0.000602	0	0
KLHL1	57626	broad.mit.edu	37	13	70681538	70681538	+	Silent	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr13:70681538T>A	ENST00000377844.4	-	1	1053	c.294A>T	c.(292-294)ccA>ccT	p.P98P	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	98					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.P98P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCGTGGCAACTGGAAGCAGGG	0.592000													15	40					0	0	0.002450	0	0
RYR2	6262	broad.mit.edu	37	1	237656311	237656311	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:237656311C>A	ENST00000366574.2	+	19	2202	c.1885C>A	c.(1885-1887)Cag>Aag	p.Q629K	RYR2_ENST00000360064.6_Missense_Mutation_p.Q627K|RYR2_ENST00000542537.1_Missense_Mutation_p.Q613K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	629	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.Q627K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGTTCTAACCAGCATCTCAT	0.473000													12	32					4.36969e-10	6.36044e-10	0.001855	1	0
HPS4	89781	broad.mit.edu	37	22	26860504	26860504	+	Silent	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr22:26860504T>C	ENST00000398145.2	-	11	1708	c.1092A>G	c.(1090-1092)caA>caG	p.Q364Q	HPS4_ENST00000402105.3_Silent_p.Q359Q|HPS4_ENST00000398141.1_Silent_p.Q377Q|HPS4_ENST00000336873.5_Silent_p.Q364Q	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	364					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CGAGTTCTTCTTGGAGAAAGA	0.532000									Hermansky-Pudlak syndrome				3	83					0	0	0.004672	0	0
BAGE2	85319	broad.mit.edu	37	21	11039132	11039132	+	RNA	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr21:11039132C>A	ENST00000470054.1	-	0	1071									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)		TTCCTCAGGACATAATGAAGT	0.403000													18	523					5.01169e-05	6.13501e-05	0.004990	1	0
C9orf171	389799	broad.mit.edu	37	9	135374112	135374112	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:135374112T>A	ENST00000343036.2	+	3	382	c.334T>A	c.(334-336)Tac>Aac	p.Y112N	C9orf171_ENST00000393215.3_Missense_Mutation_p.Y76N|C9orf171_ENST00000393216.2_Missense_Mutation_p.Y76N	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	112								p.Y112N(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GGAAAGAAGCTACAGTCTGCC	0.547000													7	20					0	0	0.001984	0	0
MKI67	4288	broad.mit.edu	37	10	129903152	129903152	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:129903152C>A	ENST00000368654.3	-	13	7327	c.6952G>T	c.(6952-6954)Ggc>Tgc	p.G2318C	MKI67_ENST00000368653.3_Missense_Mutation_p.G1958C	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2318	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.G2318C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTTGAAGCCAGCCAGGTCT	0.502000													143	425					8.19216e-75	1.52618e-74	0.003610	1	0
ROBO2	6092	broad.mit.edu	37	3	77542523	77542523	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:77542523C>G	ENST00000461745.1	+	5	1696	c.796C>G	c.(796-798)Cca>Gca	p.P266A	ROBO2_ENST00000332191.8_Missense_Mutation_p.P266A|ROBO2_ENST00000487694.3_Missense_Mutation_p.P282A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	266	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P282A(1)|p.P266A(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGCAGACTTGCCAAGAGGAAG	0.418000													8	53					0	0	0.004482	0	0
CCDC53	51019	broad.mit.edu	37	12	102433651	102433651	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:102433651G>C	ENST00000240079.6	-	5	591	c.430C>G	c.(430-432)Caa>Gaa	p.Q144E	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Missense_Mutation_p.Q143E	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	144						WASH complex	protein binding	p.Q144E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CTTACCACTTGAACCATTTTG	0.383000													21	169					0	0	0.003330	0	0
TTC7A	57217	broad.mit.edu	37	2	47251456	47251456	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:47251456G>T	ENST00000319190.5	+	14	1967	c.1599G>T	c.(1597-1599)caG>caT	p.Q533H	TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.Q533H|TTC7A_ENST00000263737.6_Missense_Mutation_p.Q179H|TTC7A_ENST00000409245.1_Missense_Mutation_p.Q499H	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	533							binding	p.Q533H(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GTGACCCCCAGGTCATCCTCT	0.642000													13	26					7.93312e-07	1.04306e-06	0.002450	1	0
TNFRSF4	7293	broad.mit.edu	37	1	1148430	1148430	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:1148430G>A	ENST00000379236.3	-	3	316	c.312C>T	c.(310-312)gaC>gaT	p.D104D	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	104					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity	p.D104D(1)		large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCAGACTGTGTCCTGTGTGG	0.692000													5	28					0	0	0.004482	0	0
FAM47A	158724	broad.mit.edu	37	X	34149137	34149137	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:34149137T>A	ENST00000346193.3	-	1	1310	c.1259A>T	c.(1258-1260)cAg>cTg	p.Q420L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	420								p.Q420L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATTGGACACCTGACTAGTGTC	0.552000													4	60					0	0	0.000248	0	0
EHMT1	79813	broad.mit.edu	37	9	140638453	140638453	+	Missense_Mutation	SNP	G	G	T	rs143891279		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:140638453G>T	ENST00000460843.1	+	6	1108	c.1081G>T	c.(1081-1083)Ggc>Tgc	p.G361C	EHMT1_ENST00000334856.6_Missense_Mutation_p.G330C|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.G361C	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	361					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.G361C(1)|p.G330C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GGAGGACGACGGCCATGGTGC	0.642000													15	57					0.000308642	0.000362541	0.003163	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33658393	33658393	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:33658393G>T	ENST00000504830.1	-	7	1421	c.1086C>A	c.(1084-1086)ggC>ggA	p.G362G	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.G362G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	362	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G362G(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTGAGACAGGCCCAGGGTCT	0.507000										HNSCC(64;0.19)			38	185					1.59361e-14	2.53944e-14	0.006999	1	0
DOCK11	139818	broad.mit.edu	37	X	117742200	117742200	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:117742200T>A	ENST00000276204.6	+	26	2832	c.2758T>A	c.(2758-2760)Ttc>Atc	p.F920I	DOCK11_ENST00000276202.7_Missense_Mutation_p.F920I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	920					blood coagulation	cytosol	GTP binding	p.F920I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTAGTATAGCTTCCGACCTGA	0.358000													9	129					0	0	0.008291	0	0
CROT	54677	broad.mit.edu	37	7	87011309	87011309	+	Splice_Site	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:87011309G>T	ENST00000331536.3	+	11	1247	c.1062_splice	c.e11+1	p.K354_splice	CROT_ENST00000419147.2_Splice_Site_p.K382_splice|CROT_ENST00000442291.1_Splice_Site_p.K354_splice	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	354					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.K354N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAAGATGGAAGGTATGTTTGA	0.313000													12	40					2.80697e-09	4.03069e-09	0.000978	1	0
KIAA0922	23240	broad.mit.edu	37	4	154523459	154523459	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:154523459G>T	ENST00000409959.3	+	22	2471	c.2422G>T	c.(2422-2424)Gac>Tac	p.D808Y	KIAA0922_ENST00000409663.3_Missense_Mutation_p.D807Y|KIAA0922_ENST00000440693.1_Missense_Mutation_p.D724Y	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	807						integral to membrane		p.D808Y(1)|p.D660Y(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GTTTTCCCTGGACCCAAACAC	0.408000													26	137					8.4185e-14	1.32825e-13	0.002445	1	0
PRDM11	56981	broad.mit.edu	37	11	45226314	45226314	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:45226314A>C	ENST00000263765.4	+	6	890	c.641A>C	c.(640-642)aAa>aCa	p.K214T	PRDM11_ENST00000528980.1_3'UTR|PRDM11_ENST00000530656.1_Missense_Mutation_p.K214T|PRDM11_ENST00000424263.2_Missense_Mutation_p.K180T			Q9NQV5	PRD11_HUMAN	PR domain containing 11	214	SET.			K -> E (in Ref. 1; AAF87244).				p.K214T(1)		endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GACGAGACCAAAGCCAACTGG	0.542000													19	102					0	0	0.008871	0	0
CDH4	1002	broad.mit.edu	37	20	60499428	60499428	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:60499428C>T	ENST00000360469.5	+	11	1753	c.1665C>T	c.(1663-1665)caC>caT	p.H555H	CDH4_ENST00000543233.1_Silent_p.H481H	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	555	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding	p.H555H(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTGGCTGCACATCAATGCCA	0.622000													6	65					0	0	0.001984	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255798	15255798	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:15255798C>T	ENST00000378116.4	-	8	1795	c.1789G>A	c.(1789-1791)Gtc>Atc	p.V597I		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	597						integral to membrane		p.V597I(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCTGGCTGACATAGGAGTGG	0.562000													52	120					0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123275152	123275152	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:123275152T>C	ENST00000264501.4	+	82	14658	c.14285T>C	c.(14284-14286)gTt>gCt	p.V4762A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V4762A			Q2LD37	K1109_HUMAN	KIAA1109	4762					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.V4762A(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCAATTATGTTACAGCTACA	0.358000													4	21					0	0	0.000248	0	0
PALLD	23022	broad.mit.edu	37	4	169837113	169837113	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:169837113C>T	ENST00000335742.7	+	17	3617	c.2260C>T	c.(2260-2262)Cac>Tac	p.H754Y	CBR4_ENST00000509108.1_Intron|PALLD_ENST00000505667.1_Missense_Mutation_p.H929Y|PALLD_ENST00000512127.1_Missense_Mutation_p.H530Y|PALLD_ENST00000507735.1_Missense_Mutation_p.H425Y|PALLD_ENST00000261509.6_Missense_Mutation_p.H912Y			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1136	Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.H754Y(1)|p.H912Y(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTTCAGACCTCACTTCTTGCA	0.423000									Pancreatic Cancer, Familial Clustering of				15	51					0	0	0.004007	0	0
LRIG1	26018	broad.mit.edu	37	3	66502041	66502041	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:66502041C>A	ENST00000383703.3	-	3	910	c.307G>T	c.(307-309)Gag>Tag	p.E103*	LRIG1_ENST00000273261.3_Nonsense_Mutation_p.E103*			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	103						integral to membrane		p.E103*(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCTGTCAACTCATTATTATTG	0.438000													22	93					0.00188189	0.00213973	0.001882	1	0
RYR1	6261	broad.mit.edu	37	19	38948237	38948237	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:38948237T>A	ENST00000355481.4	+	17	2023	c.1892T>A	c.(1891-1893)cTg>cAg	p.L631Q	RYR1_ENST00000359596.3_Missense_Mutation_p.L631Q|RYR1_ENST00000360985.3_Missense_Mutation_p.L631Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	631	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.L631Q(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGTGAGCTTCTGCTGCAGACA	0.522000													54	116					0	0	0.003610	0	0
TAS1R2	80834	broad.mit.edu	37	1	19186147	19186147	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:19186147G>T	ENST00000375371.3	-	1	29	c.8C>A	c.(7-9)cCc>cAc	p.P3H	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	3					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.P3H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CTTTGCCCTGGGCCCCATGGC	0.562000													9	66					1.58986e-06	2.04411e-06	0.008291	1	0
SPEN	23013	broad.mit.edu	37	1	16265829	16265829	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:16265829C>T	ENST00000375759.3	+	15	11106	c.10902C>T	c.(10900-10902)ttC>ttT	p.F3634F		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3634	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.F3634F(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCTGTGAGTTCTCTGAGAGTC	0.582000													74	135					0	0	0.003610	0	0
SPINK5	11005	broad.mit.edu	37	5	147493975	147493975	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:147493975C>A	ENST00000359874.3	+	21	2011	c.1938C>A	c.(1936-1938)tgC>tgA	p.C646*	SPINK5_ENST00000256084.7_Nonsense_Mutation_p.C646*|SPINK5_ENST00000398454.1_Nonsense_Mutation_p.C646*	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	646	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.C646*(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTTTTCTGCACAAGAGAAA	0.428000													7	59					0.00198382	0.00225162	0.001984	1	0
LILRB4	11006	broad.mit.edu	37	19	55179179	55179179	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:55179179C>T	ENST00000391736.1	+	13	1450	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	LILRB4_ENST00000391734.3_Intron|LILRB4_ENST00000430952.2_Silent_p.L378L|LILRB4_ENST00000270452.2_Silent_p.L379L|LILRB4_ENST00000391733.3_Silent_p.L380L	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	379						integral to membrane|plasma membrane	antigen binding|receptor activity	p.L379L(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		TCCCTCCCCACTGTCTGGGGA	0.582000													25	41					0	0	0.003954	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644684	20644684	+	RNA	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:20644684G>C	ENST00000428453.1	-	0	3187																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACAGGGAAGGGAGACGGCCAC	0.632000													4	17					0	0	0.001168	0	0
OR5K1	26339	broad.mit.edu	37	3	98188738	98188738	+	Silent	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:98188738T>A	ENST00000332650.5	+	1	415	c.318T>A	c.(316-318)acT>acA	p.T106T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T106T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTTTGCACTGTGGAAACTG	0.438000													22	219					0	0	0.001882	0	0
PPP1R32	220004	broad.mit.edu	37	11	61250221	61250221	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:61250221C>T	ENST00000338608.2	+	4	447	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.R108C	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	108								p.R108C(1)									CTGGAGCATGCGCCAGACCAG	0.672000											OREG0021002	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	21					0	0	0.001523	0	0
NBAS	51594	broad.mit.edu	37	2	15567913	15567913	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:15567913T>C	ENST00000281513.5	-	22	2370	c.2345A>G	c.(2344-2346)aAc>aGc	p.N782S	NBAS_ENST00000441750.1_Missense_Mutation_p.N782S	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	782								p.N782S(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGAGTCACCGTTAAAACTCAA	0.393000													5	43					0	0	0.000602	0	0
ALDOB	229	broad.mit.edu	37	9	104189909	104189909	+	Nonsense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:104189909G>C	ENST00000374855.4	-	5	519	c.395C>G	c.(394-396)tCa>tGa	p.S132*	ALDOB_ENST00000468981.2_Intron	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	132					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.S132*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				ACAGCGCTCTGAGAGGCCATC	0.512000													13	52					0	0	0.001855	0	0
SCN9A	6335	broad.mit.edu	37	2	167142874	167142874	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:167142874T>G	ENST00000303354.6	-	11	1917	c.1577A>C	c.(1576-1578)cAt>cCt	p.H526P	SCN9A_ENST00000375387.4_Missense_Mutation_p.H526P|SCN9A_ENST00000409435.1_Missense_Mutation_p.H525P|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.H525P			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	525						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.H525P(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCTCTTTTCATGTGCTCGCCT	0.438000													17	400					0	0	0.006122	0	0
FAM83H	286077	broad.mit.edu	37	8	144811484	144811484	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:144811484C>T	ENST00000388913.3	-	3	582	c.457G>A	c.(457-459)Gtg>Atg	p.V153M		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	153					biomineral tissue development			p.V153M(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCATCACCACGGCCACCACC	0.647000													5	61					0	0	0.000602	0	0
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													3	55					0	0	0.004672	0	0
UROC1	131669	broad.mit.edu	37	3	126220156	126220156	+	Splice_Site	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:126220156C>A	ENST00000383579.3	-	11	1084		c.e11-1		UROC1_ENST00000290868.2_Intron	NM_001165974.1	NP_001159446.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1						histidine catabolic process	cytosol	urocanate hydratase activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CAGGTGCCCCCTGCACCTGTG	0.592000													10	72					0.000442599	0.000517987	0.006214	1	0
SORCS1	114815	broad.mit.edu	37	10	108380225	108380225	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:108380225G>A	ENST00000263054.6	-	20	2764	c.2757C>T	c.(2755-2757)ggC>ggT	p.G919G	SORCS1_ENST00000369698.1_Silent_p.G454G|SORCS1_ENST00000344440.6_Silent_p.G919G	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	919						integral to membrane	neuropeptide receptor activity|protein binding	p.G919G(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGTGAGGGTGCCCACTTGGC	0.557000													11	125					0	0	0.008291	0	0
OR1N2	138882	broad.mit.edu	37	9	125315473	125315473	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:125315473T>A	ENST00000373688.2	+	1	83	c.25T>A	c.(25-27)Tca>Aca	p.S9T		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S9T(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCTGCGCAGATCACACGAACT	0.448000													34	92					0	0	0.002445	0	0
DIS3L2	129563	broad.mit.edu	37	2	233103338	233103338	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:233103338G>T	ENST00000325385.7	+	11	1576	c.1300G>T	c.(1300-1302)Gtc>Ttc	p.V434F	DIS3L2_ENST00000409307.1_Missense_Mutation_p.V434F|DIS3L2_ENST00000273009.6_Missense_Mutation_p.V434F	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	434							exonuclease activity|ribonuclease activity|RNA binding	p.V434F(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGCTACAAGCGTCTACTTGGT	0.423000													20	34					1.87028e-06	2.39501e-06	0.001882	1	0
ZNF665	79788	broad.mit.edu	37	19	53668345	53668345	+	Silent	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:53668345G>C	ENST00000600412.1	-	2	1318	c.1203C>G	c.(1201-1203)gtC>gtG	p.V401V	ZNF665_ENST00000396424.3_Silent_p.V466V			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V401V(1)|p.V466V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTTGTGTGAAGACCTTACCGC	0.428000													5	100					0	0	0.000602	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233927	10233927	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:10233927C>A	ENST00000315330.4	-	3	362	c.300G>T	c.(298-300)ttG>ttT	p.L100F	CLEC1A_ENST00000457018.2_Missense_Mutation_p.L67F|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	100					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.L100F(1)		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						GAAGAGATTGCAACTCTTGGG	0.423000													27	52					2.79863e-10	4.08294e-10	0.004656	1	0
ZDBF2	57683	broad.mit.edu	37	2	207171353	207171353	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:207171353T>G	ENST00000374423.3	+	5	2487	c.2101T>G	c.(2101-2103)Tct>Gct	p.S701A		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	701							nucleic acid binding|zinc ion binding	p.S701A(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAGTGTTCAGTCTAGCCGTTC	0.423000													5	68					0	0	0.000602	0	0
CENPE	1062	broad.mit.edu	37	4	104068565	104068565	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:104068565A>G	ENST00000265148.3	-	29	4171	c.4082T>C	c.(4081-4083)cTt>cCt	p.L1361P	CENPE_ENST00000380026.3_Missense_Mutation_p.L1336P	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1361					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)		TTTAACTTCAAGGGCTTCTTT	0.338000													3	87					0	0	0.004672	0	0
HAUS7	55559	broad.mit.edu	37	X	152734677	152734677	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:152734677G>T	ENST00000370219.3	-	2	738	c.181C>A	c.(181-183)Cca>Aca	p.P61T	HAUS7_ENST00000370210.1_Missense_Mutation_p.P51T|HAUS7_ENST00000421080.2_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.P51T|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.P61T|TREX2_ENST00000330912.2_5'UTR	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	61					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding	p.P61T(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						ATTGTCTTTGGCTCTGTGATA	0.478000													18	167					2.35188e-11	3.53612e-11	0.006122	1	0
IGKV1-6	28943	broad.mit.edu	37	2	89265930	89265930	+	RNA	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:89265930G>T	ENST00000464162.1	-	0	230																											TAGATCAGGAGCTTAGGGGCT	0.512000													48	257					8.04919e-23	1.38637e-22	0.003610	1	0
TENM1	10178	broad.mit.edu	37	X	124097540	124097540	+	Silent	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:124097540T>C	ENST00000422452.2	-	1	126	c.63A>G	c.(61-63)ctA>ctG	p.L21L	TENM1_ENST00000371130.3_Silent_p.L21L	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1									p.L21L(1)									TGGTGTAAGCTAGATCCATTT	0.443000													42	339					0	0	0.002222	0	0
MXRA5	25878	broad.mit.edu	37	X	3235264	3235264	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:3235264G>T	ENST00000217939.6	-	6	6612	c.6458C>A	c.(6457-6459)cCg>cAg	p.P2153Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2153	Ig-like C2-type 6.					extracellular region		p.P2153Q(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTCCTCCGCGGGGAGGTGCC	0.697000													3	22					0.00024832	0.000293302	0.000248	1	0
SDHD	6392	broad.mit.edu	37	11	111959712	111959712	+	Silent	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr11:111959712A>T	ENST00000375549.3	+	3	426	c.291A>T	c.(289-291)gcA>gcT	p.A97A	SDHD_ENST00000525291.1_Silent_p.A58A|SDHD_ENST00000528048.1_Intron|SDHD_ENST00000528021.1_Silent_p.A97A|SDHD_ENST00000526592.1_Silent_p.A97A|SDHD_ENST00000532699.1_Silent_p.A97A|SDHD_ENST00000528182.1_Silent_p.A97A	NM_003002.2	NP_002993.1	O14521	DHSD_HUMAN	succinate dehydrogenase complex, subunit D, integral membrane protein	97					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding	p.A97A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	CCCTGGCTGCAGCCCTCACTC	0.468000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				63	56					0	0	0.003610	0	0
KERA	11081	broad.mit.edu	37	12	91449623	91449623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:91449623G>A	ENST00000266719.3	-	2	683	c.436C>T	c.(436-438)Caa>Taa	p.Q146*		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	146					response to stimulus|visual perception	proteinaceous extracellular matrix		p.Q146*(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AATTGTAATTGTTCTAAACTT	0.408000													14	148					0	0	0.001855	0	0
AFF3	3899	broad.mit.edu	37	2	100623335	100623335	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:100623335T>G	ENST00000317233.4	-	6	867	c.632A>C	c.(631-633)cAc>cCc	p.H211P	AFF3_ENST00000409236.1_Missense_Mutation_p.H211P|AFF3_ENST00000409579.1_Missense_Mutation_p.H236P|AFF3_ENST00000356421.2_Missense_Mutation_p.H236P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	211					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.H236P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGAACACAGTGTCCGCTGCT	0.597000													5	132					0	0	0.001168	0	0
ESPNP	284729	broad.mit.edu	37	1	17046617	17046617	+	RNA	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:17046617C>T	ENST00000492551.1	-	0	35					NR_026567.1																						AGCGGGCAGTCAGATGCAAGA	0.622000													5	250					0	0	0.001984	0	0
PRKCQ	5588	broad.mit.edu	37	10	6498720	6498720	+	Silent	SNP	C	C	A	rs55867019		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:6498720C>A	ENST00000263125.5	-	15	1662	c.1563G>T	c.(1561-1563)gcG>gcT	p.A521A	PRKCQ_ENST00000397176.2_Silent_p.A521A|PRKCQ_ENST00000539722.1_Silent_p.A396A	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	521	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.A521A(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTCCAAAATCCGCGATCTTGA	0.418000													25	50					9.22233e-05	0.0001114	0.004656	1	0
ADCY9	115	broad.mit.edu	37	16	4057537	4057537	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:4057537C>A	ENST00000294016.3	-	3	2254	c.1716G>T	c.(1714-1716)tcG>tcT	p.S572S	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	572					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.S572S(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCTCTGACCCGATATCAGGT	0.522000													14	66					1.49906e-05	1.86e-05	0.002450	1	0
FGG	2266	broad.mit.edu	37	4	155527940	155527940	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:155527940T>A	ENST00000404648.3	-	8	1285	c.1046A>T	c.(1045-1047)gAa>gTa	p.E349V	FGG_ENST00000336098.3_Missense_Mutation_p.E349V|FGG_ENST00000407946.1_Missense_Mutation_p.E357V|FGG_ENST00000405164.1_Missense_Mutation_p.E357V	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	349	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.E349V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	ACAGTTGCCTTCAAACTTATC	0.423000													14	85					0	0	0.001855	0	0
GPR112	139378	broad.mit.edu	37	X	135430448	135430448	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:135430448T>A	ENST00000394143.1	+	6	4874	c.4583T>A	c.(4582-4584)gTt>gAt	p.V1528D	GPR112_ENST00000370652.1_Missense_Mutation_p.V1528D|GPR112_ENST00000287534.4_Missense_Mutation_p.V1465D|GPR112_ENST00000412101.1_Missense_Mutation_p.V1323D|GPR112_ENST00000394141.1_Missense_Mutation_p.V1323D	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1528					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V1528D(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCAAAAAAGTTTCTGACACT	0.433000													10	195					0	0	0.006214	0	0
MYH3	4621	broad.mit.edu	37	17	10533474	10533474	+	Missense_Mutation	SNP	T	T	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:10533474T>G	ENST00000583535.1	-	38	5584	c.5497A>C	c.(5497-5499)Aag>Cag	p.K1833Q	MYH3_ENST00000226209.7_Missense_Mutation_p.K1833Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1833					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K1833Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCTGTGTTCTTCTTCTGCTCT	0.547000													23	376					0	0	0.004656	0	0
GPR112	139378	broad.mit.edu	37	X	135445641	135445641	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:135445641T>A	ENST00000394143.1	+	13	7574	c.7283T>A	c.(7282-7284)aTc>aAc	p.I2428N	GPR112_ENST00000370652.1_Missense_Mutation_p.I2428N|GPR112_ENST00000287534.4_Missense_Mutation_p.I2226N|GPR112_ENST00000412101.1_Missense_Mutation_p.I2223N|GPR112_ENST00000394141.1_Missense_Mutation_p.I2223N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2428					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I2428N(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCAGTTCAATCAGCATCAAC	0.403000													14	109					0	0	0.003163	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627706	43627706	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:43627706G>A	ENST00000332857.6	-	4	1009	c.981C>T	c.(979-981)gtC>gtT	p.V327V		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6									p.V327V(1)									GTATCCCCACGACATTCTGGC	0.458000													24	342					0	0	0.002299	0	0
FAT1	2195	broad.mit.edu	37	4	187524791	187524791	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:187524791T>C	ENST00000441802.2	-	19	11098	c.10889A>G	c.(10888-10890)cAt>cGt	p.H3630R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3630	Cadherin 33.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.H3630R(1)|p.H3633R(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGTCTGATATGCACTGTGAT	0.502000										HNSCC(5;0.00058)			13	39					0	0	0.002450	0	0
FZD10	11211	broad.mit.edu	37	12	130647951	130647951	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:130647951C>G	ENST00000229030.4	+	1	948	c.464C>G	c.(463-465)tCg>tGg	p.S155W	FZD10_ENST00000539839.1_Silent_p.L122L			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	155					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.S155W(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		AACAACGGCTCGGACGAGCCC	0.697000													4	67					0	0	0.000248	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3763466	3763466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:3763466C>A	ENST00000440314.2	-	10	1431	c.958G>T	c.(958-960)Gag>Tag	p.E320*	EFCAB4B_ENST00000252322.1_Nonsense_Mutation_p.E320*|EFCAB4B_ENST00000444507.1_Nonsense_Mutation_p.E320*	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	320					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding	p.E320*(2)		breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GAAGTCCGCTCCAGCTCCCGG	0.572000													19	30					4.63292e-17	7.55214e-17	0.008871	1	0
TTN	7273	broad.mit.edu	37	2	179567252	179567252	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:179567252T>C	ENST00000589042.1	-	107	30586	c.30362A>G	c.(30361-30363)cAg>cGg	p.Q10121R	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q8877R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q9804R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9804	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q8877R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTATTTCTGGCTCTCTGT	0.453000													13	360					0	0	0.001368	0	0
AUTS2	26053	broad.mit.edu	37	7	70231185	70231185	+	Silent	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:70231185C>G	ENST00000342771.4	+	9	1875	c.1554C>G	c.(1552-1554)ccC>ccG	p.P518P	AUTS2_ENST00000406775.2_Silent_p.P518P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	518								p.P518P(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCCCTCCGCCCTACCTGCGGA	0.617000													19	65					0	0	0.001882	0	0
SALL1	6299	broad.mit.edu	37	16	51174774	51174774	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:51174774G>A	ENST00000440970.1	-	2	1499	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.F453F|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	453					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F453F(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCTTCGCGCAGAACCTGCACT	0.512000													23	161					0	0	0.002299	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711266	140711266	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:140711266G>A	ENST00000517417.1	+	1	1015	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.D339N	NM_018912.2	NP_061735.1												p.D339N(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAGTTTTGGATGTAAATGA	0.433000													7	42					0	0	0.003080	0	0
MAP1B	4131	broad.mit.edu	37	5	71491553	71491553	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:71491553G>T	ENST00000296755.7	+	5	2669	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	791						microtubule|microtubule associated complex	structural molecule activity	p.A791S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAAGGCAAGGCCGCAGAGGC	0.527000													10	97					2.17888e-05	2.68266e-05	0.006214	1	0
HDAC6	10013	broad.mit.edu	37	X	48682427	48682427	+	Nonsense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:48682427T>A	ENST00000334136.5	+	27	3577	c.3399T>A	c.(3397-3399)tgT>tgA	p.C1133*	HDAC6_ENST00000444343.2_Nonsense_Mutation_p.C1147*|HDAC6_ENST00000376619.2_Nonsense_Mutation_p.C1133*			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1133					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.C1133*(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCCAACCTTGTGGGGACTGTG	0.562000													7	41					0	0	0.003080	0	0
NCAPG2	54892	broad.mit.edu	37	7	158468339	158468339	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:158468339C>A	ENST00000409339.3	-	12	1269	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	NCAPG2_ENST00000409423.1_Nonsense_Mutation_p.E386*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.E386*|NCAPG2_ENST00000275830.10_Nonsense_Mutation_p.E178*|NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.E386*			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	386					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	p.E386*(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TAAGGATCTTCTAAAAGGCTC	0.443000													14	47					3.27435e-08	4.55841e-08	0.002450	1	0
NARF	26502	broad.mit.edu	37	17	80445829	80445829	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:80445829C>A	ENST00000390006.4	+	11	1464	c.990C>A	c.(988-990)gaC>gaA	p.D330E	NARF_ENST00000309794.10_Missense_Mutation_p.D389E|NARF_ENST00000457415.3_Missense_Mutation_p.D435E|NARF_ENST00000345415.7_Missense_Mutation_p.D341E	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	389						lamin filament	lamin binding	p.D435E(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGACTCCAGACGGACATGCGG	0.557000													5	93					0.00116845	0.0013309	0.001168	1	0
KIAA1109	84162	broad.mit.edu	37	4	123274259	123274259	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:123274259G>C	ENST00000264501.4	+	81	14423	c.14050G>C	c.(14050-14052)Gaa>Caa	p.E4684Q	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E4684Q			Q2LD37	K1109_HUMAN	KIAA1109	4684					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.E4684Q(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTTCATTTAGAAGAACCAAA	0.368000													18	48					0	0	0.006122	0	0
CCNG2	901	broad.mit.edu	37	4	78081897	78081897	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:78081897C>T	ENST00000316355.5	+	4	656	c.300C>T	c.(298-300)tgC>tgT	p.C100C	CCNG2_ENST00000502280.1_Silent_p.C100C|CCNG2_ENST00000354403.5_Silent_p.C100C|CCNG2_ENST00000395640.1_Silent_p.C100C|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Silent_p.C100C	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	100					cell cycle checkpoint|cell division|mitosis	cytoplasm		p.C100C(1)		breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ATTTGTCTTGCATTGGAGTCT	0.363000													8	160					0	0	0.004482	0	0
CHUK	1147	broad.mit.edu	37	10	101964958	101964958	+	Splice_Site	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr10:101964958T>A	ENST00000370397.7	-	12	1318		c.e12-2			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		TGTCCTGTACTATATACAAGA	0.398000													5	106					0	0	0.001168	0	0
FAM49B	51571	broad.mit.edu	37	8	130891660	130891660	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:130891660C>A	ENST00000519824.2	-	3	321	c.48G>T	c.(46-48)ggG>ggT	p.G16G	FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000522250.1_Intron|FAM49B_ENST00000522941.1_Intron|FAM49B_ENST00000519540.1_Silent_p.G16G|FAM49B_ENST00000523509.1_Silent_p.G16G|FAM49B_ENST00000519110.1_Silent_p.G16G|FAM49B_ENST00000517654.1_Silent_p.G16G|FAM49B_ENST00000522746.1_Silent_p.G16G|FAM49B_ENST00000401979.2_Silent_p.G16G	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	16								p.G16G(1)		kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			AAAAATTTGGCCCCTGCTCAA	0.358000													9	66					2.17888e-05	2.68266e-05	0.006214	1	0
FARSA	2193	broad.mit.edu	37	19	13041475	13041475	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:13041475C>A	ENST00000588025.1	-	3	496	c.356G>T	c.(355-357)cGt>cTt	p.R119L	FARSA_ENST00000423140.2_Missense_Mutation_p.R79L|FARSA_ENST00000314606.4_Missense_Mutation_p.R79L|CTC-425F1.2_ENST00000592636.1_RNA			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	79					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	p.R79L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	TCGAAACACACGGGCCTCATG	0.612000													26	44					4.47668e-21	7.54775e-21	0.003954	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23814457	23814457	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:23814457C>G	ENST00000264867.2	-	10	2051	c.1932G>C	c.(1930-1932)agG>agC	p.R644S	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	644					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	p.R644S(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CCCTCTTCAGCCTCTCGTGCT	0.448000													25	144					0	0	0.003954	0	0
SETDB2	83852	broad.mit.edu	37	13	50038170	50038170	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr13:50038170A>C	ENST00000317257.8	+	5	1047	c.222A>C	c.(220-222)aaA>aaC	p.K74N	SETDB2_ENST00000354234.4_Intron|SETDB2_ENST00000258672.5_Intron	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	74					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	p.K74N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		catcacagaaagaagtgaatg	0.418000													7	12					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> 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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			12	62					0	0	0.000978	0	0
CHRNA7	1139	broad.mit.edu	37	15	32450697	32450697	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:32450697G>T	ENST00000306901.3	+	7	780	c.683G>T	c.(682-684)cGc>cTc	p.R228L	CHRNA7_ENST00000455693.2_Missense_Mutation_p.R47L|CHRNA7_ENST00000454250.3_Missense_Mutation_p.R257L	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	228					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding	p.R138L(1)|p.R228L(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	ACCATGCGCCGCAGGACGCTC	0.592000													36	113					1.08114e-33	1.94605e-33	0.003610	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125298847	125298847	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:125298847C>A	ENST00000538699.1	-	2	1141	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R354L	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	354								p.R354L(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCTCAGCGACCGCACGCCTGT	0.637000													43	85					1.57945e-13	2.4737e-13	0.002852	1	0
PLCB1	23236	broad.mit.edu	37	20	8719992	8719992	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:8719992C>A	ENST00000378641.3	+	21	2768	c.2293C>A	c.(2293-2295)Caa>Aaa	p.Q765K	PLCB1_ENST00000378637.2_Missense_Mutation_p.Q765K|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000338037.6_Missense_Mutation_p.Q765K	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	765					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.Q765K(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTTGCCAGTGCAAGCCATTCG	0.393000													5	70					0.00116845	0.0013309	0.001168	1	0
TNR	7143	broad.mit.edu	37	1	175334328	175334328	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:175334328T>A	ENST00000367674.1	-	12	3113	c.2405A>T	c.(2404-2406)gAc>gTc	p.D802V	TNR_ENST00000263525.2_Missense_Mutation_p.D802V	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	802	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.D802V(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AATGAGTCTGTCTGCTGGGGG	0.532000													20	65					0	0	0.008871	0	0
RANBP3	8498	broad.mit.edu	37	19	5918634	5918634	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:5918634C>T	ENST00000340578.6	-	15	1403	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E	RANBP3_ENST00000541471.1_Missense_Mutation_p.G321E|RANBP3_ENST00000439268.2_Missense_Mutation_p.G444E|RANBP3_ENST00000591092.1_Missense_Mutation_p.G376E|RANBP3_ENST00000034275.8_Missense_Mutation_p.G381E	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	449	RanBD1.				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	p.G449E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						TCGCAGGCTCCCCTGGGTCCG	0.607000													13	102					0	0	0.001368	0	0
CCDC39	339829	broad.mit.edu	37	3	180377471	180377471	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:180377471G>T	ENST00000273654.4	-	11	1474	c.855C>A	c.(853-855)agC>agA	p.S285R	CCDC39_ENST00000442201.2_Missense_Mutation_p.S201R			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	201					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		p.S285R(1)|p.S201R(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TAACCTGTGCGCTTATAGTCT	0.328000													7	94					1.26484e-09	1.82859e-09	0.003080	1	0
RAB39B	116442	broad.mit.edu	37	X	154493532	154493532	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:154493532G>T	ENST00000369454.3	-	1	342	c.42C>A	c.(40-42)atC>atA	p.I14I		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	14					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.I14I(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGAATCCCCGATGACAATGA	0.667000													10	172					1.08611e-07	1.48295e-07	0.000978	1	0
TRAF7	84231	broad.mit.edu	37	16	2225515	2225515	+	Silent	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:2225515G>C	ENST00000326181.6	+	17	1650	c.1518G>C	c.(1516-1518)gtG>gtC	p.V506V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	506					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.V506V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						GGGACATCGTGGGCACTGAGC	0.627000													15	128					0	0	0.004007	0	0
FHOD3	80206	broad.mit.edu	37	18	34324019	34324019	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr18:34324019C>A	ENST00000257209.4	+	20	3501	c.3379C>A	c.(3379-3381)Ctc>Atc	p.L1127I	FHOD3_ENST00000592128.1_Missense_Mutation_p.L106I|FHOD3_ENST00000590592.1_Missense_Mutation_p.L1302I|FHOD3_ENST00000591635.1_Missense_Mutation_p.L323I|FHOD3_ENST00000359247.4_Missense_Mutation_p.L1110I|FHOD3_ENST00000445677.1_Missense_Mutation_p.L1089I	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1110	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.L1127I(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GTTAAGCTACCTCGAGAAGGT	0.453000													54	115					3.76997e-23	6.56406e-23	0.003610	1	0
ABCA1	19	broad.mit.edu	37	9	107589339	107589339	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:107589339C>T	ENST00000374736.3	-	16	2621	c.2227G>A	c.(2227-2229)Gcc>Acc	p.A743T	ABCA1_ENST00000494467.1_5'UTR	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	743					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.A743T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCCAGGTTGGCTCTGGAGAAG	0.562000													15	65					0	0	0.004007	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017690	101017690	+	Silent	SNP	C	C	A	rs149531123	byFrequency	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:101017690C>A	ENST00000537247.1	+	10	1749	c.795C>A	c.(793-795)gtC>gtA	p.V265V	GAS2L3_ENST00000266754.5_Silent_p.V369V|GAS2L3_ENST00000539410.1_Silent_p.V369V|GAS2L3_ENST00000547754.1_Silent_p.V369V			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	369	GAR.				cell cycle arrest			p.V369V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CTATGTCAGTCCGTTCTAAAT	0.453000													40	115					9.85913e-13	1.53284e-12	0.002222	1	0
DOCK11	139818	broad.mit.edu	37	X	117677516	117677516	+	Nonsense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:117677516A>T	ENST00000276204.6	+	4	426	c.352A>T	c.(352-354)Aag>Tag	p.K118*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.K118*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	118	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding	p.K118*(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GGTAAACTACAAGTATGAGGA	0.353000													28	130					0	0	0.008361	0	0
TUBA3D	113457	broad.mit.edu	37	2	132235910	132235910	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:132235910C>A	ENST00000321253.6	+	2	284	c.177C>A	c.(175-177)ggC>ggA	p.G59G		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	59					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G59G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGGAGCTGGCAAGCACGTGC	0.562000													33	35					9.73076e-26	1.72721e-25	0.006999	1	0
NRP2	8828	broad.mit.edu	37	2	206614460	206614460	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:206614460A>G	ENST00000360409.3	+	11	2589	c.1798A>G	c.(1798-1800)Acg>Gcg	p.T600A	NRP2_ENST00000357118.4_Missense_Mutation_p.T600A|NRP2_ENST00000412873.2_Missense_Mutation_p.T600A|NRP2_ENST00000357785.5_Missense_Mutation_p.T600A|NRP2_ENST00000272849.3_Missense_Mutation_p.T600A|NRP2_ENST00000540841.1_Missense_Mutation_p.T600A|NRP2_ENST00000540178.1_Missense_Mutation_p.T600A	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	600					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.T600A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTCCAAGCCCACGGTAGAGAC	0.547000													12	80					0	0	0.001855	0	0
LAMB4	22798	broad.mit.edu	37	7	107756565	107756565	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:107756565C>A	ENST00000388781.3	-	3	159	c.76G>T	c.(76-78)Ggt>Tgt	p.G26C	LAMB4_ENST00000388780.3_Missense_Mutation_p.G26C|LAMB4_ENST00000414450.2_Missense_Mutation_p.G26C|LAMB4_ENST00000205386.4_Missense_Mutation_p.G26C	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	26	Laminin N-terminal.				cell adhesion	basement membrane		p.G26C(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGACAGGCACCCCTGTTGCAG	0.532000													25	109					2.44723e-14	3.89e-14	0.004656	1	0
ZNF513	130557	broad.mit.edu	37	2	27600625	27600625	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:27600625G>A	ENST00000323703.6	-	4	1611	c.1413C>T	c.(1411-1413)ccC>ccT	p.P471P	ZNF513_ENST00000407879.1_Silent_p.P409P|ZNF513_ENST00000491924.1_5'UTR	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	471					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	p.P471P(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACAGCGGAAGGGCTTCTCGC	0.592000													69	147					0	0	0.003610	0	0
SEMA6D	80031	broad.mit.edu	37	15	48053382	48053382	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:48053382G>A	ENST00000316364.5	+	5	749	c.310G>A	c.(310-312)Gat>Aat	p.D104N	SEMA6D_ENST00000389433.2_Missense_Mutation_p.D104N|SEMA6D_ENST00000389425.3_Missense_Mutation_p.D104N|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D104N|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D104N|SEMA6D_ENST00000558816.1_Missense_Mutation_p.D104N|SEMA6D_ENST00000389428.3_Missense_Mutation_p.D104N|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D104N|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D104N|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D104N|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D104N|SEMA6D_ENST00000355997.3_Missense_Mutation_p.D104N	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	104	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.D104N(2)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGACAACAGGATCGAGAAAA	0.403000													6	27					0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238285946	238285946	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr2:238285946T>C	ENST00000295550.4	-	7	2991	c.2539A>G	c.(2539-2541)Aat>Gat	p.N847D	COL6A3_ENST00000392004.3_Missense_Mutation_p.N641D|COL6A3_ENST00000409809.1_Missense_Mutation_p.N641D|COL6A3_ENST00000392003.2_Missense_Mutation_p.N440D|COL6A3_ENST00000353578.4_Missense_Mutation_p.N641D|COL6A3_ENST00000347401.3_Missense_Mutation_p.N646D|COL6A3_ENST00000346358.4_Missense_Mutation_p.N647D|COL6A3_ENST00000472056.1_Missense_Mutation_p.N240D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	847	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.N641D(1)|p.N847D(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCACAAGATTGGCTGAGCCG	0.498000													53	57					0	0	0.003610	0	0
ROBO2	6092	broad.mit.edu	37	3	77147283	77147283	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:77147283C>T	ENST00000461745.1	+	2	1080	c.180C>T	c.(178-180)ccC>ccT	p.P60P	ROBO2_ENST00000332191.8_Silent_p.P60P|ROBO2_ENST00000487694.3_Silent_p.P76P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	60	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P76P(1)|p.P60P(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GGCCAACGCCCACCATTGAGT	0.592000													12	36					0	0	0.000978	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051780	79051780	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:79051780G>C	ENST00000388820.4	-	24	5254	c.5044C>G	c.(5044-5046)Cgg>Ggg	p.R1682G		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1682					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1682G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGGGCAACCCGCTGATGGCCT	0.731000													4	14					0	0	0.000248	0	0
MT1HL1	645745	broad.mit.edu	37	1	237167617	237167617	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:237167617C>T	ENST00000464121.2	-	1	101	c.56G>A	c.(55-57)tGc>tAc	p.C19Y		NM_001276687.1	NP_001263616.1			metallothionein 1H-like 1									p.C19*(1)									TTTGCACTTGCAGGAGCCGGC	0.627000													25	64					0	0	0.004656	0	0
MBTPS2	51360	broad.mit.edu	37	X	21887655	21887655	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:21887655G>A	ENST00000365779.2	+	7	910	c.829G>A	c.(829-831)Gac>Aac	p.D277N	MBTPS2_ENST00000379484.5_Missense_Mutation_p.D277N			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	277					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity	p.D277N(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TTTTGTGGGAGACCTTGTCAC	0.428000													8	147					0	0	0.004482	0	0
CADM3	57863	broad.mit.edu	37	1	159163316	159163316	+	Silent	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:159163316G>T	ENST00000368125.4	+	4	643	c.486G>T	c.(484-486)cgG>cgT	p.R162R	CADM3_ENST00000368124.4_Silent_p.R196R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	162	Ig-like C2-type 1.		R -> W (in dbSNP:rs3026987).		adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R196R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CTGCAGCCCGGCTCACCTGGA	0.517000													33	70					2.46105e-21	4.17139e-21	0.002096	1	0
ZNF208	7757	broad.mit.edu	37	19	22154156	22154156	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:22154156C>A	ENST00000397126.4	-	4	3828	c.3680G>T	c.(3679-3681)tGt>tTt	p.C1227F	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.C1099F(2)|p.C1227F(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACATTCTTCACATTTGTAGGG	0.388000													5	88					1.23904e-05	1.54337e-05	0.000602	1	0
IGF2R	3482	broad.mit.edu	37	6	160494947	160494947	+	Silent	SNP	C	C	T	rs140485195		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:160494947C>T	ENST00000356956.1	+	35	5254	c.5106C>T	c.(5104-5106)caC>caT	p.H1702H		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1702					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	p.H1702H(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATCCCATGCACGGAGTGCCCT	0.478000													7	39					0	0	0.001984	0	0
ZNF347	84671	broad.mit.edu	37	19	53643854	53643854	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:53643854C>G	ENST00000452676.2	-	5	2656	c.2230G>C	c.(2230-2232)Ggg>Cgg	p.G744R	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000334197.7_Missense_Mutation_p.G743R|ZNF347_ENST00000601469.2_Missense_Mutation_p.G744R	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G743R(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGACCTTCCCACACTCATTG	0.433000													40	158					0	0	0.007835	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144077006	144077006	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:144077006G>T	ENST00000056217.5	+	15	4825	c.4651G>T	c.(4651-4653)Gtg>Ttg	p.V1551L	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.V473L	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1551	SH3.				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	p.V1551L(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTGGAGGGCGTGAGGCTCTC	0.567000													7	241					1.12685e-05	1.41744e-05	0.004482	1	0
ANXA3	306	broad.mit.edu	37	4	79512740	79512740	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:79512740C>G	ENST00000264908.6	+	7	825	c.446C>G	c.(445-447)tCt>tGt	p.S149C	ANXA3_ENST00000503570.2_Missense_Mutation_p.S110C|ANXA3_ENST00000512884.1_Missense_Mutation_p.S110C	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	149					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity	p.S149C(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCCGAAACATCTGGTGACTTC	0.333000													19	124					0	0	0.001882	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150311160	150311160	+	RNA	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:150311160C>A	ENST00000520773.1	-	0	2161																											AGGTTTCTCCCCAGTATGAGT	0.398000													7	26					8.12818e-05	9.83695e-05	0.001984	1	0
WDR19	57728	broad.mit.edu	37	4	39207199	39207199	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:39207199A>T	ENST00000399820.3	+	9	887	c.733A>T	c.(733-735)Atc>Ttc	p.I245F	WDR19_ENST00000506503.1_Missense_Mutation_p.I245F|WDR19_ENST00000288634.7_Missense_Mutation_p.I85F	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	245					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding	p.I245F(1)		large_intestine(1)	1						TGATGGCCGCATCATGATTGG	0.378000													6	30					0	0	0.001168	0	0
ZNF271P	10778	broad.mit.edu	37	18	32887072	32887072	+	RNA	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr18:32887072G>C	ENST00000399070.3	+	0	1466					NR_024565.1|NR_024566.1													p.E162Q(1)		large_intestine(3)|lung(9)	12						ATCCACACTGGAGAGAAACCT	0.398000													16	104					0	0	0.004990	0	0
TBX20	57057	broad.mit.edu	37	7	35271187	35271187	+	Silent	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:35271187C>T	ENST00000408931.3	-	6	1345	c.819G>A	c.(817-819)acG>acA	p.T273T		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	273						nucleus	DNA binding	p.T273T(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TTTTCAGCTTCGTTATCTGGA	0.373000													14	41					0	0	0.003163	0	0
COL1A2	1278	broad.mit.edu	37	7	94057055	94057055	+	Silent	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:94057055C>A	ENST00000297268.6	+	49	3855	c.3384C>A	c.(3382-3384)ctC>ctA	p.L1128L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1128					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.L1128L(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CACCTTCTCTCAGACCCAAGG	0.522000										HNSCC(75;0.22)			27	100					7.07758e-08	9.76798e-08	0.004656	1	0
COL15A1	1306	broad.mit.edu	37	9	101797356	101797356	+	Missense_Mutation	SNP	C	C	T	rs142089094	byFrequency	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:101797356C>T	ENST00000375001.3	+	18	2563	c.2140C>T	c.(2140-2142)Cct>Tct	p.P714S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	714	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.P714S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGCTGGCCCTCCTGGGGTCAT	0.612000													12	102					0	0	0.001855	0	0
UBE3D	90025	broad.mit.edu	37	6	83748197	83748197	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:83748197T>A	ENST00000369747.3	-	5	727	c.605A>T	c.(604-606)aAg>aTg	p.K202M		NM_198920.1	NP_944602.1	Q7Z6J8	UB2CB_HUMAN	ubiquitin protein ligase E3D	202						cytoplasm	ligase activity	p.K202M(1)									GGTATTTGCCTTTGGTTCCTG	0.338000													18	55					0	0	0.007413	0	0
YTHDF1	54915	broad.mit.edu	37	20	61834123	61834123	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:61834123C>G	ENST00000370339.3	-	4	1510	c.1169G>C	c.(1168-1170)cGt>cCt	p.R390P	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R340P	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	390	YTH.							p.R390P(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GATGAACACACGCCCGCTTTT	0.532000													51	116					0	0	0.003610	0	0
LILRB4	11006	broad.mit.edu	37	19	55177363	55177363	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:55177363G>T	ENST00000391736.1	+	9	1170	c.855G>T	c.(853-855)caG>caT	p.Q285H	LILRB4_ENST00000391734.3_Missense_Mutation_p.Q285H|LILRB4_ENST00000430952.2_Missense_Mutation_p.Q285H|LILRB4_ENST00000270452.2_Missense_Mutation_p.Q285H|LILRB4_ENST00000391733.3_Missense_Mutation_p.Q285H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	285						integral to membrane|plasma membrane	antigen binding|receptor activity	p.Q285H(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		ACTGGCGTCAGGGAAAACACA	0.582000													5	64					4.096e-09	5.86848e-09	0.001168	1	0
DLGAP2	9228	broad.mit.edu	37	8	1497404	1497404	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:1497404G>C	ENST00000421627.2	+	2	679	c.545G>C	c.(544-546)cGg>cCg	p.R182P		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	261					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.R226P(1)|p.R204P(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCGGACGGCCGGGCGGACGAC	0.667000													3	20					0	0	0.004672	0	0
PPP2CB	5516	broad.mit.edu	37	8	30669865	30669865	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:30669865C>G	ENST00000221138.4	-	1	523	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	PPP2CB_ENST00000520500.1_Intron|PPP2CB_ENST00000518564.1_Missense_Mutation_p.E25Q	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	25					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	p.E25Q(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	ACTTGGTTCTCGTTCAGCTGC	0.697000													3	16					0	0	0.000248	0	0
DCAF13	25879	broad.mit.edu	37	8	104452412	104452412	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:104452412G>T	ENST00000297579.5	+	9	1732	c.1455G>T	c.(1453-1455)tgG>tgT	p.W485C	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	333					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTGTAAAATGGACTTCTGACA	0.348000													5	162					0.000602214	0.000697129	0.000602	1	0
FKBP9	11328	broad.mit.edu	37	7	33014277	33014277	+	Silent	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:33014277G>A	ENST00000242209.4	+	2	439	c.270G>A	c.(268-270)ctG>ctA	p.L90L	FKBP9_ENST00000538443.1_Intron|FKBP9_ENST00000538336.1_Silent_p.L143L|AVL9_ENST00000404479.1_Intron	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	90	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.L90L(1)		central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			AAGGACAGCTGATCACAGGGA	0.463000													21	406					0	0	0.002445	0	0
CPED1	79974	broad.mit.edu	37	7	120704291	120704291	+	Splice_Site	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:120704291G>T	ENST00000310396.5	+	5	1007		c.e5-1		CPED1_ENST00000423795.1_Splice_Site|CPED1_ENST00000450913.2_Splice_Site	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1									p.?(1)									ATTCCTTTCAGGCAAACAGAT	0.393000													30	94					5.8336e-16	9.3896e-16	0.003271	1	0
CACNA1E	777	broad.mit.edu	37	1	181701955	181701955	+	Silent	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:181701955G>C	ENST00000526775.1	+	19	2841	c.2676G>C	c.(2674-2676)cgG>cgC	p.R892R	CACNA1E_ENST00000360108.3_Silent_p.R892R|CACNA1E_ENST00000367567.4_Silent_p.R518R|CACNA1E_ENST00000367573.2_Silent_p.R911R|CACNA1E_ENST00000357570.5_Silent_p.R862R|CACNA1E_ENST00000367570.1_Silent_p.R911R|CACNA1E_ENST00000358338.5_Silent_p.R843R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	911					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R911R(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTGAGGACCGGGCCAGGCACA	0.672000													10	159					0	0	0.008291	0	0
L1CAM	3897	broad.mit.edu	37	X	153128312	153128312	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:153128312A>T	ENST00000370060.1	-	29	3769	c.3580T>A	c.(3580-3582)Tcg>Acg	p.S1194T	L1CAM_ENST00000543994.1_Missense_Mutation_p.S1196T|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1192T|L1CAM_ENST00000370057.3_Missense_Mutation_p.S1194T|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1190T|L1CAM_ENST00000361981.3_Missense_Mutation_p.S1185T|L1CAM_ENST00000370055.1_Missense_Mutation_p.S1185T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1194			S -> L (in HSAS and MASA).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.S1194T(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGTTGAGCGATGGCTGGCTG	0.622000													8	49					0	0	0.003080	0	0
C17orf47	284083	broad.mit.edu	37	17	56620571	56620571	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:56620571C>A	ENST00000321691.3	-	1	1158	c.977G>T	c.(976-978)cGa>cTa	p.R326L	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	326								p.R326L(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGTTTCCTCGGATTGGGGT	0.542000													19	55					1.33834e-09	1.93047e-09	0.007413	1	0
CNTN2	6900	broad.mit.edu	37	1	205039560	205039560	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:205039560G>T	ENST00000331830.4	+	19	2722	c.2438G>T	c.(2437-2439)aGg>aTg	p.R813M		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	813	Fibronectin type-III 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.R813M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAGAGCCCAGGGTGGCCCCT	0.582000													16	29					4.14922e-12	6.35815e-12	0.004007	1	0
DSTYK	25778	broad.mit.edu	37	1	205133027	205133027	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:205133027T>A	ENST00000367162.3	-	4	1411	c.1381A>T	c.(1381-1383)Atc>Ttc	p.I461F	DSTYK_ENST00000367161.3_Missense_Mutation_p.I461F|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	461						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I461F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ATCTGTCGGATGCAGCATTTG	0.483000													16	248					0	0	0.006122	0	0
FBN2	2201	broad.mit.edu	37	5	127681130	127681130	+	Missense_Mutation	SNP	T	T	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:127681130T>C	ENST00000508053.1	-	30	4110	c.3136A>G	c.(3136-3138)Aag>Gag	p.K1046E	FBN2_ENST00000262464.4_Missense_Mutation_p.K1046E|FBN2_ENST00000508989.1_Missense_Mutation_p.K1013E			P35556	FBN2_HUMAN	fibrillin 2	1046	TB 5.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.K1046E(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCGTATTCCTTGGTGCCAGGT	0.622000													11	118					0	0	0.001855	0	0
KIF13A	63971	broad.mit.edu	37	6	17837141	17837141	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:17837141C>T	ENST00000378814.5	-	11	1122	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	KIF13A_ENST00000259711.6_Missense_Mutation_p.E375K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E375K|KIF13A_ENST00000378816.5_Missense_Mutation_p.E375K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E375K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	375					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	p.E375K(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTCAGTTTCTCGACTTCCTCC	0.517000													30	353					0	0	0.008361	0	0
RAB39B	116442	broad.mit.edu	37	X	154493561	154493561	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:154493561A>T	ENST00000369454.3	-	1	313	c.13T>A	c.(13-15)Tgg>Agg	p.W5R		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	5					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.W5R(1)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGTACAGCCAGATGGCCTCC	0.687000													7	135					0	0	0.006214	0	0
PDE10A	10846	broad.mit.edu	37	6	165827065	165827065	+	Missense_Mutation	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:165827065C>G	ENST00000366882.1	-	14	1326	c.1172G>C	c.(1171-1173)aGt>aCt	p.S391T	PDE10A_ENST00000539869.2_Missense_Mutation_p.S401T|PDE10A_ENST00000354448.4_Missense_Mutation_p.S391T			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	391	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.S391T(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGAGAAGGCACTGCCACTGAT	0.443000													18	43					0	0	0.006122	0	0
HYDIN	54768	broad.mit.edu	37	16	70867931	70867931	+	Missense_Mutation	SNP	C	C	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:70867931C>T	ENST00000393567.2	-	79	13688	c.13538G>A	c.(13537-13539)cGc>cAc	p.R4513H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4513								p.R4464H(1)|p.R4512H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGAGGGGGCGCAGGAGCCC	0.557000													13	28					0	0	0.004990	0	0
KLHL4	56062	broad.mit.edu	37	X	86888896	86888896	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:86888896T>A	ENST00000373119.4	+	8	1842	c.1697T>A	c.(1696-1698)gTt>gAt	p.V566D	KLHL4_ENST00000373114.4_Missense_Mutation_p.V566D	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	566						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.V566D(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTTGGTGTTGTTGCATTAAAC	0.423000													36	63					0	0	0.002222	0	0
KRTAP6-1	337966	broad.mit.edu	37	21	31986019	31986019	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr21:31986019A>T	ENST00000329122.2	-	1	230	c.205T>A	c.(205-207)Tac>Aac	p.Y69N		NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	69						cytosol|intermediate filament		p.Y69N(1)		breast(2)|endometrium(1)|lung(7)	10						CAATAATAGTAGCCAGAGCCA	0.532000													24	146					0	0	0.003330	0	0
FCRL2	79368	broad.mit.edu	37	1	157738381	157738381	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:157738381T>A	ENST00000361516.3	-	5	754	c.706A>T	c.(706-708)Aca>Tca	p.T236S	FCRL2_ENST00000392274.3_Missense_Mutation_p.T236S|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	236	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	p.T236S(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGGAGAATGTGACATTTCCT	0.542000													92	211					0	0	0.003610	0	0
CALB2	794	broad.mit.edu	37	16	71418734	71418734	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr16:71418734G>T	ENST00000302628.4	+	9	699	c.622G>T	c.(622-624)Gac>Tac	p.D208Y	CALB2_ENST00000349553.5_Intron	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	208	EF-hand 5.						calcium ion binding	p.D208Y(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				CACATTTTACGACAAGGTAAG	0.517000													7	155					0.00307968	0.00348304	0.003080	1	0
LAMC3	10319	broad.mit.edu	37	9	133962991	133962991	+	Missense_Mutation	SNP	G	G	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr9:133962991G>C	ENST00000361069.4	+	26	4492	c.4359G>C	c.(4357-4359)gaG>gaC	p.E1453D	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1453	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.E1453D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCAGACAGGAGCTGGAGGAAG	0.662000													17	55					0	0	0.004990	0	0
COL12A1	1303	broad.mit.edu	37	6	75898142	75898142	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:75898142C>A	ENST00000322507.8	-	8	1242	c.933G>T	c.(931-933)gaG>gaT	p.E311D	COL12A1_ENST00000483888.2_Missense_Mutation_p.E311D|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.E311D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	311	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.E311D(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGAGATGATCTCATTCTGAA	0.433000													28	69					2.65835e-16	4.32235e-16	0.007291	1	0
GRIA2	2891	broad.mit.edu	37	4	158238855	158238855	+	Missense_Mutation	SNP	G	G	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:158238855G>A	ENST00000296526.7	+	5	1037	c.712G>A	c.(712-714)Gca>Aca	p.A238T	GRIA2_ENST00000393815.2_Missense_Mutation_p.A191T|GRIA2_ENST00000264426.9_Missense_Mutation_p.A238T|GRIA2_ENST00000449365.1_Missense_Mutation_p.A191T|GRIA2_ENST00000507898.1_Missense_Mutation_p.A191T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	238					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.A238T(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	CTACATCATTGCAAATCTGGT	0.254000													4	16					0	0	0.001168	0	0
FBF1	85302	broad.mit.edu	37	17	73910944	73910944	+	Nonsense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:73910944C>A	ENST00000586717.1	-	24	2929	c.2656G>T	c.(2656-2658)Gag>Tag	p.E886*	FBF1_ENST00000319129.5_Nonsense_Mutation_p.E885*|FBF1_ENST00000389570.4_Nonsense_Mutation_p.E886*			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	885								p.E885*(1)		large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCCGCCCACTCGGCAGCCAGG	0.687000													4	24					0.00024832	0.000293302	0.000248	1	0
OPN1LW	5956	broad.mit.edu	37	X	153420135	153420135	+	Missense_Mutation	SNP	T	T	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:153420135T>A	ENST00000369951.4	+	4	725	c.665T>A	c.(664-666)gTc>gAc	p.V222D	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	222					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	p.V222D(2)		endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATGATTGTCCTCATGGTC	0.602000													18	311					0	0	0.008871	0	0
TRRAP	8295	broad.mit.edu	37	7	98602013	98602013	+	Missense_Mutation	SNP	A	A	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:98602013A>T	ENST00000359863.4	+	67	10677	c.10468A>T	c.(10468-10470)Acg>Tcg	p.T3490S	TRRAP_ENST00000355540.3_Missense_Mutation_p.T3461S|TRRAP_ENST00000446306.3_Missense_Mutation_p.T3479S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3490					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.T3461S(1)|p.T3490S(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCAAAGCCAACGCATTATTA	0.532000													26	93					0	0	0.005443	0	0
PZP	5858	broad.mit.edu	37	12	9317851	9317851	+	Missense_Mutation	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:9317851A>G	ENST00000261336.2	-	19	2399	c.2371T>C	c.(2371-2373)Tct>Cct	p.S791P	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.S660P	NM_002864.2	NP_002855.2			pregnancy-zone protein									p.S791P(1)|p.S660P(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GCTCGGAGAGAGGCAGTGGAA	0.552000													23	73					0	0	0.002299	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730903	140730903	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:140730903G>T	ENST00000523390.1	+	1	1076	c.1076G>T	c.(1075-1077)gGa>gTa	p.G359V	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1												p.G359V(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGACCTTGGAACTGTAATA	0.418000													14	15					1.3612e-06	1.76075e-06	0.003163	1	0
ZUFSP	221302	broad.mit.edu	37	6	116988239	116988239	+	Silent	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr6:116988239C>G	ENST00000368576.3	-	2	360	c.117G>C	c.(115-117)gtG>gtC	p.V39V	ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Silent_p.V39V	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	39						intracellular	zinc ion binding	p.V39V(1)		NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CATCATAATTCACACCTGACA	0.343000													26	50					0	0	0.003330	0	0
SUPT6H	6830	broad.mit.edu	37	17	27009765	27009765	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:27009765G>T	ENST00000314616.6	+	14	1901	c.1618G>T	c.(1618-1620)Ggg>Tgg	p.G540W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.G540W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	540					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	p.G540S(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAAAAAGTTTGGGCTTACTCC	0.527000													30	85					5.91797e-21	9.95153e-21	0.002445	1	0
PRKCA	5578	broad.mit.edu	37	17	64728940	64728940	+	Silent	SNP	A	A	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr17:64728940A>G	ENST00000413366.3	+	9	1079	c.1053A>G	c.(1051-1053)ggA>ggG	p.G351G		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	351	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.G351G(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GGAGTTTTGGAAAGGTAAGAG	0.453000													40	141					0	0	0.006999	0	0
SYCP1	6847	broad.mit.edu	37	1	115487071	115487071	+	Nonsense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:115487071G>T	ENST00000369522.3	+	24	2278	c.2038G>T	c.(2038-2040)Gaa>Taa	p.E680*	SYCP1_ENST00000369518.1_Nonsense_Mutation_p.E680*	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	680					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.E680*(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATCTTTTGGAAGAGGTGGG	0.269000													12	42					1.61879e-10	2.3725e-10	0.001368	1	0
DLK1	8788	broad.mit.edu	37	14	101201115	101201115	+	Missense_Mutation	SNP	A	A	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr14:101201115A>C	ENST00000341267.4	+	5	1276	c.1034A>C	c.(1033-1035)aAg>aCg	p.K345T	DLK1_ENST00000331224.6_Missense_Mutation_p.K272T	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	345					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.K345T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				ATGCTGCGGAAGAAGAAGAAC	0.577000													7	86					0	0	0.001984	0	0
RANBP3L	202151	broad.mit.edu	37	5	36251594	36251594	+	Missense_Mutation	SNP	G	G	T			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:36251594G>T	ENST00000296604.3	-	13	1660	c.1175C>A	c.(1174-1176)gCc>gAc	p.A392D	RANBP3L_ENST00000502994.1_Missense_Mutation_p.A417D	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	392	RanBD1.				intracellular transport			p.A392D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TGTATCTTGGGCACTGGCCTG	0.348000													13	48					9.05144e-12	1.37059e-11	0.001855	1	0
DNAH5	1767	broad.mit.edu	37	5	13820510	13820510	+	Silent	SNP	C	C	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr5:13820510C>G	ENST00000265104.4	-	41	6890	c.6786G>C	c.(6784-6786)ggG>ggC	p.G2262G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2262	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G2262G(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCCACTGGGCCCCAGAGTCA	0.532000									Kartagener syndrome				20	46					0	0	0.001523	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432636	73432636	+	Missense_Mutation	SNP	C	C	A			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr3:73432636C>A	ENST00000263666.4	-	10	3195	c.3081G>T	c.(3079-3081)aaG>aaT	p.K1027N	PDZRN3_ENST00000462146.2_Missense_Mutation_p.K684N|PDZRN3_ENST00000466780.1_Missense_Mutation_p.K684N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.K744N|PDZRN3_ENST00000535920.1_Missense_Mutation_p.K749N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1027							ubiquitin-protein ligase activity|zinc ion binding	p.K1027N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TATTCCTCTTCTTCATCATCT	0.458000													76	237					7.97268e-31	1.43105e-30	0.003610	1	0
SPSB1	80176	broad.mit.edu	37	1	9416498	9416499	+	Frame_Shift_Ins	INS	-	-	G			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:9416498_9416499insG	ENST00000328089.6	+	2	889_890	c.548_549insG	c.(547-549)agafs	p.R183fs	SPSB1_ENST00000357898.3_Frame_Shift_Ins_p.R183fs|SPSB1_ENST00000377399.2_Frame_Shift_Ins_p.R183fs	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	183	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCTGGACATGGACGACGGGA	0.515													25	181	---	---	---	---					
ESRRG	2104	broad.mit.edu	37	1	216850615	216850615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:216850615delC	ENST00000391890.3	-	4	723	c.206delG	c.(205-207)gafs	p.G70fs	ESRRG_ENST00000366937.1_Frame_Shift_Del_p.G98fs|ESRRG_ENST00000487276.1_Frame_Shift_Del_p.G70fs|ESRRG_ENST00000360012.3_Frame_Shift_Del_p.G70fs|ESRRG_ENST00000361395.2_Frame_Shift_Del_p.G70fs|ESRRG_ENST00000366938.2_Frame_Shift_Del_p.G70fs|ESRRG_ENST00000408911.3_Frame_Shift_Del_p.G93fs|ESRRG_ENST00000493748.1_Frame_Shift_Del_p.G70fs|ESRRG_ENST00000493603.1_Frame_Shift_Del_p.G70fs|ESRRG_ENST00000359162.2_Frame_Shift_Del_p.G70fs|ESRRG_ENST00000366940.2_Frame_Shift_Del_p.G70fs|ESRRG_ENST00000463665.1_Frame_Shift_Del_p.G70fs|ESRRG_ENST00000361525.3_Frame_Shift_Del_p.G70fs	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	93					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCCACTACCTCCCAGGATAGG	0.532													68	157	---	---	---	---					
LYST	1130	broad.mit.edu	37	1	235922575	235922575	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr1:235922575delC	ENST00000389794.3	-	23	6752	c.6578delG	c.(6577-6579)gafs	p.G2193fs	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Frame_Shift_Del_p.G2193fs			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2193					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCCCAGCACTCCCTTTGGGAC	0.512													69	176	---	---	---	---					
NPFFR2	10886	broad.mit.edu	37	4	72897699	72897699	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr4:72897699delG	ENST00000308744.6	+	1	179	c.81delG	c.(79-81)gcfs	p.A27fs	NPFFR2_ENST00000344413.5_Frame_Shift_Del_p.A27fs	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	27					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACAAGGAGGCGGGGAGGGAGC	0.672													7	84	---	---	---	---					
GS1-124K5.2	0	broad.mit.edu	37	7	65888988	65888989	+	RNA	DEL	TT	TT	-	rs75924435		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:65888988_65888989delTT	ENST00000442578.1	-	0	826																											tttttttttctttttttttttt	0.485													2	4	---	---	---	---					
LMTK2	22853	broad.mit.edu	37	7	97800896	97800896	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:97800896delG	ENST00000297293.5	+	7	994	c.701delG	c.(700-702)cgfs	p.R234fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	234	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R234L(1)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGCACATGCGGGGGGACTCA	0.617													25	104	---	---	---	---					
SERPINE1	5054	broad.mit.edu	37	7	100773778	100773779	+	Frame_Shift_Del	DEL	CA	CA	-	rs149070955		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr7:100773778_100773779delCA	ENST00000223095.4	+	3	505_506	c.348_349delCA	c.(346-351)accafs	p.TT116fs	SERPINE1_ENST00000445463.2_Frame_Shift_Del_p.TT101fs	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	116					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGATCAGCACCACAGACGCGAT	0.599													110	207	---	---	---	---					
ADCY8	114	broad.mit.edu	37	8	131848677	131848677	+	Frame_Shift_Del	DEL	C	C	-			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr8:131848677delC	ENST00000286355.5	-	12	4613	c.2521delG	c.(2521-2523)tgfs	p.V841fs	ADCY8_ENST00000377928.3_Frame_Shift_Del_p.V710fs	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	841					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGGCCAACACCCCCGTGAAG	0.532										HNSCC(32;0.087)			7	61	---	---	---	---					
IQSEC3	440073	broad.mit.edu	37	12	247477	247478	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr12:247477_247478delGC	ENST00000538872.1	+	4	1066_1067	c.948_949delGC	c.(946-951)cggcfs	p.RR316fs	IQSEC3_ENST00000326261.4_Frame_Shift_Del_p.RR316fs|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Frame_Shift_Del_p.RR13fs			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	316	IQ.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGTGTCCCGGCGCGCCGCTTG	0.599													8	33	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42028569	42028569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:42028569delG	ENST00000219905.7	+	13	4288	c.4107delG	c.(4105-4107)gtfs	p.V1369fs	MGA_ENST00000570161.1_Frame_Shift_Del_p.V1369fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.V1369fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.V1369fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.V1369fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1369						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CACTTAAGGTGGGCAGCTTCA	0.458													40	89	---	---	---	---					
SIN3A	25942	broad.mit.edu	37	15	75715034	75715034	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr15:75715034delG	ENST00000394947.3	-	3	634	c.320delC	c.(319-321)cafs	p.P108fs	SIN3A_ENST00000567289.1_Frame_Shift_Del_p.P108fs|SIN3A_ENST00000360439.4_Frame_Shift_Del_p.P108fs|SIN3A_ENST00000394949.4_Frame_Shift_Del_p.P108fs	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	108					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TGCAACTGGTGGGGCTGGATG	0.527													43	96	---	---	---	---					
SLC7A9	11136	broad.mit.edu	37	19	33355102	33355103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:33355102_33355103insC	ENST00000023064.4	-	4	568_569	c.377_378insG	c.(376-378)gatfs	p.D126fs	SLC7A9_ENST00000587772.1_Frame_Shift_Ins_p.D126fs|SLC7A9_ENST00000590341.1_Frame_Shift_Ins_p.D126fs	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	126			A -> T (in CSNU).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GGCAGATGATGGCGAAGGACGT	0.599													7	49	---	---	---	---					
ZIM2	23619	broad.mit.edu	37	19	57286803	57286804	+	Frame_Shift_Ins	INS	-	-	A	rs149106731		TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr19:57286803_57286804insA	ENST00000391708.3	-	12	1378_1379	c.836_837insT	c.(835-837)cgafs	p.R279fs	AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Frame_Shift_Ins_p.R279fs|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Frame_Shift_Ins_p.R279fs|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Frame_Shift_Ins_p.R279fs|ZIM2_ENST00000593711.1_Frame_Shift_Ins_p.R279fs	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2									p.P279P(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AGCTTCTTTCCGGAGTGAGGGT	0.460													41	124	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58883399	58883400	+	RNA	INS	-	-	T	rs149794923	by1000genomes	TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chr20:58883399_58883400insT	ENST00000432910.1	+	0	332					NR_046099.1																						ggaccgggaaacagatgcttac	0.569													3	5	---	---	---	---					
SLITRK2	84631	broad.mit.edu	37	X	144904509	144904509	+	Frame_Shift_Del	DEL	G	G	-			TCGA-05-4405-01A-21D-1855-08	TCGA-05-4405-10A-01D-1855-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ef10eb8-d713-4fda-9e03-bc594b356d77	78d03ee6-4bd7-427a-8b57-ed7d0877f545	g.chrX:144904509delG	ENST00000370490.1	+	1	4821	c.566delG	c.(565-567)agfs	p.R189fs	SLITRK2_ENST00000413937.2_Frame_Shift_Del_p.R189fs|SLITRK2_ENST00000447897.2_Frame_Shift_Del_p.R189fs|SLITRK2_ENST00000428560.2_Frame_Shift_Del_p.R189fs|SLITRK2_ENST00000434188.2_Frame_Shift_Del_p.R189fs			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	189						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TTAGACCTCAGGGGGAATAGG	0.463													27	210	---	---	---	---