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
FBN2	2201	broad.mit.edu	37	5	127614517	127614517	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:127614517G>C	ENST00000508053.1	-	63	8129	c.7155C>G	c.(7153-7155)ctC>ctG	p.L2385L	FBN2_ENST00000262464.4_Silent_p.L2385L			P35556	FBN2_HUMAN	fibrillin 2	2385	TB 9.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCAAAGCAGAGACCCTGTC	0.468000													13	29					0	0	0.001368	0	0
JARID2	3720	broad.mit.edu	37	6	15517481	15517481	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:15517481G>C	ENST00000341776.2	+	17	3784	c.3540G>C	c.(3538-3540)ttG>ttC	p.L1180F	JARID2_ENST00000397311.3_Missense_Mutation_p.L1008F	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1180					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGCTGAAGTTGATGTACCGCT	0.622000													18	66					0	0	0.001882	0	0
PHRF1	57661	broad.mit.edu	37	11	611692	611692	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:611692C>T	ENST00000264555.5	+	18	4993	c.4865C>T	c.(4864-4866)gCg>gTg	p.A1622V	PHRF1_ENST00000416188.2_Missense_Mutation_p.A1621V|PHRF1_ENST00000413872.2_Missense_Mutation_p.A1620V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A1618V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1622							RNA polymerase binding|zinc ion binding	p.A1622G(1)|p.A1627G(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CTGGTGAAGGCGTACGTGGAC	0.602000													6	48					0	0	0.001168	0	0
C1orf172	126695	broad.mit.edu	37	1	27276605	27276605	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:27276605G>A	ENST00000320567.5	-	4	1240	c.1152C>T	c.(1150-1152)acC>acT	p.T384T		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	384										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGTCTGTGTCGGTGCCCTGGA	0.597000													14	37					0	0	0.003163	0	0
ITPR1	3708	broad.mit.edu	37	3	4725402	4725402	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:4725402G>T	ENST00000302640.8	+	27	3723	c.3373G>T	c.(3373-3375)Gag>Tag	p.E1125*	ITPR1_ENST00000357086.4_Nonsense_Mutation_p.E1131*|ITPR1_ENST00000354582.6_Nonsense_Mutation_p.E1140*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.E1131*|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.E1125*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.E1116*	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1140					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAAAAGTCAGAGCTTTGGGT	0.448000													4	54					2.56e-06	4.61829e-06	0.000248	1	0
PTDSS1	9791	broad.mit.edu	37	8	97321825	97321825	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:97321825G>C	ENST00000517309.1	+	9	1374	c.1048G>C	c.(1048-1050)Gta>Cta	p.V350L	PTDSS1_ENST00000522072.1_Missense_Mutation_p.V147L|PTDSS1_ENST00000455950.2_Missense_Mutation_p.V204L	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	350					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GTGCAAGCGCGTAGGAACACA	0.433000													6	48					0	0	0.001168	0	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642000		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)			31	29					0	0	0.002445	0	0
HYOU1	10525	broad.mit.edu	37	11	118922623	118922623	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:118922623C>T	ENST00000404233.3	-	12	1370	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	HYOU1_ENST00000543287.1_Missense_Mutation_p.A329T|HYOU1_ENST00000529972.1_Missense_Mutation_p.A416T|HYOU1_ENST00000525859.1_Missense_Mutation_p.A416T	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	416						endoplasmic reticulum lumen	ATP binding|protein binding	p.A416T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GCCCCCATGGCGGCTGCTTCA	0.582000													56	47					0	0	0.003610	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834778	27834778	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:27834778G>A	ENST00000331442.3	-	1	581	c.530C>T	c.(529-531)gCc>gTc	p.A177V		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	177					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AGCGGCCTTGGCCTTCTTAGG	0.587000													45	91					0	0	0.003214	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156724819	156724819	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:156724819C>T	ENST00000264424.8	+	11	1539	c.1457C>T	c.(1456-1458)cCa>cTa	p.P486L	GUCY1B3_ENST00000505154.1_Missense_Mutation_p.P418L|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.P418L|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.P466L|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.P508L|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.P461L|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.P453L	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	486	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AGTGGTTTACCAGAGCCATGC	0.428000													10	9					0	0	0.006214	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67487539	67487539	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:67487539G>A	ENST00000290949.3	-	2	360	c.210C>T	c.(208-210)atC>atT	p.I70I	ATP6V0D1_ENST00000540149.1_Silent_p.I70I|ATP6V0D1_ENST00000602876.1_5'UTR	NM_004691.4	NP_004682.2	P61421	VA0D1_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	70					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCCGGTCATCGATGACTGACA	0.532000													23	52					0	0	0.002780	0	0
SVEP1	79987	broad.mit.edu	37	9	113173432	113173432	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:113173432C>T	ENST00000401783.2	-	37	6895	c.6559G>A	c.(6559-6561)Gaa>Aaa	p.E2187K	SVEP1_ENST00000297826.5_Missense_Mutation_p.E113K|SVEP1_ENST00000374469.1_Missense_Mutation_p.E2164K	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2187	Sushi 13.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCTGTGGCTTCGCAGGTGCTC	0.507000													29	77					0	0	0.006320	0	0
HMHA1	23526	broad.mit.edu	37	19	1084297	1084297	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:1084297G>A	ENST00000313093.2	+	22	3247	c.3016G>A	c.(3016-3018)Gag>Aag	p.E1006K	HMHA1_ENST00000586866.1_Missense_Mutation_p.E1010K|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000536472.1_Missense_Mutation_p.E874K|HMHA1_ENST00000539243.2_Missense_Mutation_p.E1022K|HMHA1_ENST00000590214.1_Missense_Mutation_p.E1033K|HMHA1_ENST00000590577.1_Missense_Mutation_p.E641K|HMHA1_ENST00000543365.1_Missense_Mutation_p.E889K	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1006					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCGGGCGAGGCGGTGGT	0.687000													39	65					0	0	0.008740	0	0
DLAT	1737	broad.mit.edu	37	11	111899661	111899661	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:111899661C>G	ENST00000280346.6	+	4	1311	c.652C>G	c.(652-654)Cac>Gac	p.H218D	DLAT_ENST00000393051.1_Missense_Mutation_p.H218D|DLAT_ENST00000537636.1_Intron	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	218					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	ATATCCCCCTCACATGCAGGT	0.517000													33	87					0	0	0.002836	0	0
ZNF90	7643	broad.mit.edu	37	19	20229606	20229606	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:20229606C>G	ENST00000418063.2	+	4	1355	c.1243C>G	c.(1243-1245)Cat>Gat	p.H415D	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	415						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACTTACTATACATAAGATAAG	0.373000													7	10					0	0	0.001984	0	0
MGRN1	23295	broad.mit.edu	37	16	4714767	4714767	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:4714767G>T	ENST00000399577.5	+	6	712	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	MGRN1_ENST00000415496.1_Nonsense_Mutation_p.E207*|MGRN1_ENST00000586183.1_Nonsense_Mutation_p.E207*|MGRN1_ENST00000588994.1_Nonsense_Mutation_p.E207*|MGRN1_ENST00000262370.7_Nonsense_Mutation_p.E207*	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	207					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						TGTGGTGGACGAAGGAGATGG	0.592000													18	61					1.67942e-08	3.09185e-08	0.006122	1	0
CCDC144A	9720	broad.mit.edu	37	17	16638738	16638738	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:16638738G>A	ENST00000443444.2	+	12	3293	c.3153G>A	c.(3151-3153)ttG>ttA	p.L1051L	CCDC144A_ENST00000399273.1_Silent_p.L1051L|CCDC144A_ENST00000456009.1_Silent_p.L771L|CCDC144A_ENST00000360524.8_Silent_p.L1051L|RP11-219A15.1_ENST00000448331.3_Silent_p.L1051L			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1051																	AAAATATGTTGCTTCGACAGC	0.378000													10	26					0	0	0.004007	0	0
SARS2	54938	broad.mit.edu	37	19	39439299	39439299	+	Translation_Start_Site	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:39439299C>A	ENST00000448145.2	-	0	81				FBXO17_ENST00000292852.4_Missense_Mutation_p.E123D|CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.G28C|FBXO17_ENST00000595329.1_Missense_Mutation_p.E123D			Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial						seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CATGCTCCACCTCCCAGCCTC	0.587000													17	31					6.44725e-10	1.2055e-09	0.002299	1	0
ESRRG	2104	broad.mit.edu	37	1	216680338	216680338	+	Silent	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:216680338T>C	ENST00000391890.3	-	9	1789	c.1272A>G	c.(1270-1272)ctA>ctG	p.L424L	ESRRG_ENST00000359162.2_Silent_p.L417L|ESRRG_ENST00000493748.1_Silent_p.L417L|ESRRG_ENST00000366938.2_Silent_p.L417L|ESRRG_ENST00000463665.1_Silent_p.L378L|ESRRG_ENST00000366937.1_Silent_p.L452L|ESRRG_ENST00000360012.3_Silent_p.L417L|ESRRG_ENST00000361525.3_Silent_p.L417L|ESRRG_ENST00000493603.1_Silent_p.L417L|ESRRG_ENST00000408911.3_Silent_p.L440L|ESRRG_ENST00000361395.2_Silent_p.L417L|ESRRG_ENST00000487276.1_Silent_p.L417L|ESRRG_ENST00000366940.2_Silent_p.L417L	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	440					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)	CTTTGCCTTCTAGTTTGATGT	0.493000													11	56					0	0	0.008291	0	0
SEPT1	1731	broad.mit.edu	37	16	30393647	30393647	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:30393647G>C	ENST00000321367.3	-	3	229	c.184C>G	c.(184-186)Ctg>Gtg	p.L62V	SEPT1_ENST00000605106.1_Missense_Mutation_p.L20V|SEPT1_ENST00000571393.1_Missense_Mutation_p.L15V	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	15					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TTGCGGTGCAGCTGGTTGGGG	0.582000													11	39					0	0	0.001368	0	0
THBS2	7058	broad.mit.edu	37	6	169640559	169640559	+	Silent	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:169640559C>G	ENST00000366787.3	-	7	1269	c.1020G>C	c.(1018-1020)acG>acC	p.T340T		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	340	VWFC.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.T340T(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGCAGGTACACGTGGTGCAGC	0.572000													21	32					0	0	0.001882	0	0
KAT5	10524	broad.mit.edu	37	11	65486406	65486406	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:65486406A>C	ENST00000341318.4	+	12	1721	c.1487A>C	c.(1486-1488)aAt>aCt	p.N496T	RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000377046.3_Missense_Mutation_p.N463T|KAT5_ENST00000534650.1_Missense_Mutation_p.N252T|KAT5_ENST00000352980.4_Missense_Mutation_p.N411T|KAT5_ENST00000530446.1_Missense_Mutation_p.N444T	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	463					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CAGTACCTCAATCTCATCAAC	0.532000													11	36					0	0	0.002450	0	0
FAM65A	79567	broad.mit.edu	37	16	67578271	67578271	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:67578271G>A	ENST00000540839.3	+	16	2947	c.2727G>A	c.(2725-2727)acG>acA	p.T909T	FAM65A_ENST00000428437.2_Silent_p.T904T|FAM65A_ENST00000422602.2_Silent_p.T910T|FAM65A_ENST00000379312.3_Silent_p.T894T|FAM65A_ENST00000042381.4_Silent_p.T890T			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	894						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCTCAGCACGGGGTGTCCAG	0.637000													6	115					0	0	0.003080	0	0
OSBPL9	114883	broad.mit.edu	37	1	52249590	52249590	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:52249590C>T	ENST00000371710.3	+	18	1753	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	OSBPL9_ENST00000530544.1_Missense_Mutation_p.S425L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S341L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S489L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S516L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S493L|OSBPL9_ENST00000428468.1_Missense_Mutation_p.S506L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S341L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S328L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S328L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S396L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S511L	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	506					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TATTCAGTTTCAGCCTTTTAT	0.363000													15	25					0	0	0.002450	0	0
WNT10A	80326	broad.mit.edu	37	2	219747032	219747032	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:219747032G>A	ENST00000258411.3	+	2	896	c.263G>A	c.(262-264)gGc>gAc	p.G88D		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	88					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCATACAGGGCATCCAGATC	0.582000													25	65					0	0	0.003954	0	0
HIVEP3	59269	broad.mit.edu	37	1	41979227	41979227	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:41979227C>T	ENST00000372584.1	-	7	6679	c.5665G>A	c.(5665-5667)Gca>Aca	p.A1889T	HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1889T|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1889T|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1889T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1889					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GCCCGCAGTGCATGTGGTGGG	0.657000													9	27					0	0	0.006214	0	0
SOBP	55084	broad.mit.edu	37	6	107824913	107824913	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:107824913A>C	ENST00000317357.5	+	2	808	c.149A>C	c.(148-150)aAg>aCg	p.K50T		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	50							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGCTATGATAAGGTTGAATTA	0.388000													19	108					0	0	0.007413	0	0
METTL2B	55798	broad.mit.edu	37	7	128119472	128119472	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:128119472C>T	ENST00000480046.1	+	2	383	c.268C>T	c.(268-270)Cct>Tct	p.P90S	METTL2B_ENST00000262432.8_Missense_Mutation_p.P155S			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	155							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AACACAGACACCTCCTGTGGA	0.423000													9	98					0	0	0.006214	0	0
SWAP70	23075	broad.mit.edu	37	11	9769601	9769601	+	Missense_Mutation	SNP	G	G	C	rs141564084	by1000genomes	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:9769601G>C	ENST00000318950.6	+	10	1655	c.1552G>C	c.(1552-1554)Gag>Cag	p.E518Q	SWAP70_ENST00000447399.2_Missense_Mutation_p.E460Q	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	518						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		TGAGCAGTACGAGGTAATGAG	0.438000													15	44					0	0	0.002450	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660159	77660159	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:77660159C>G	ENST00000296043.6	+	5	1786	c.833C>G	c.(832-834)tCt>tGt	p.S278C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	278					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTGGCATCTCTGGCCGGGAG	0.527000													17	64					0	0	0.006122	0	0
VWA8	23078	broad.mit.edu	37	13	42393507	42393507	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:42393507G>A	ENST00000379310.3	-	15	1784	c.1716C>T	c.(1714-1716)atC>atT	p.I572I	VWA8_ENST00000281496.6_Silent_p.I572I	NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		AGGAGGGATGGATAGGAAAAA	0.378000													11	30					0	0	0.008291	0	0
ESF1	51575	broad.mit.edu	37	20	13763380	13763380	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:13763380C>T	ENST00000202816.1	-	2	514	c.407G>A	c.(406-408)gGa>gAa	p.G136E		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	136	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.G136A(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTTTTAATTCCTATAGAATT	0.264000													5	24					0	0	0.000602	0	0
ZBBX	79740	broad.mit.edu	37	3	167031903	167031903	+	Splice_Site	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:167031903A>C	ENST00000392766.2	-	16	1616	c.1274_splice	c.e16-1	p.C426_splice	ZBBX_ENST00000392767.2_Splice_Site_p.C426_splice|ZBBX_ENST00000392764.1_Splice_Site_p.C397_splice|ZBBX_ENST00000455345.2_Splice_Site_p.C426_splice|ZBBX_ENST00000307529.5_Splice_Site_p.C426_splice	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	426						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGAAAAGCACAACTTTCACAT	0.284000													4	73					0	0	0.000248	0	0
CSNK1E	1454	broad.mit.edu	37	22	38694868	38694868	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:38694868G>A	ENST00000396832.1	-	7	1068	c.808C>T	c.(808-810)Cgt>Tgt	p.R270C	CSNK1E_ENST00000413574.2_Missense_Mutation_p.R270C|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R270C|CSNK1E_ENST00000359867.3_Missense_Mutation_p.R270C|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R270C|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R270C	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	270	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					AAGAGCTGACGTAGGTAAGAG	0.542000											OREG0026559	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	98					0	0	0.001786	0	0
CHMP1B	57132	broad.mit.edu	37	18	11851736	11851736	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr18:11851736G>T	ENST00000526991.2	+	1	342	c.226G>T	c.(226-228)Gct>Tct	p.A76S	RP11-78A19.3_ENST00000586474.1_RNA|GNAL_ENST00000334049.6_Intron|GNAL_ENST00000269162.5_Intron|GNAL_ENST00000423027.3_Intron|GNAL_ENST00000535121.1_Intron	NM_020412.4	NP_065145.2	Q7LBR1	CHM1B_HUMAN	charged multivesicular body protein 1B	76					cell cycle|cell division|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|lung(1)|urinary_tract(1)	3						CGATGCAGTGGCTGCCAGGGT	0.552000													42	100					3.76604e-16	7.26886e-16	0.002522	1	0
NOTCH3	4854	broad.mit.edu	37	19	15299887	15299887	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:15299887C>T	ENST00000263388.2	-	8	1366	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	431	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCGTTGACATCGGTCTCACAG	0.642000													24	39					0	0	0.002780	0	0
ACRC	93953	broad.mit.edu	37	X	70823685	70823685	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:70823685G>C	ENST00000373695.1	+	7	1095	c.558G>C	c.(556-558)tcG>tcC	p.S186S	ACRC_ENST00000373696.3_Silent_p.S186S			Q96QF7	ACRC_HUMAN	acidic repeat containing	186	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGATGTTCCCG	0.498000													95	74					0	0	0.003610	0	0
CDYL2	124359	broad.mit.edu	37	16	80638305	80638305	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:80638305C>T	ENST00000299564.8	-	7	1656	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N	CDYL2_ENST00000566173.1_Missense_Mutation_p.D502N|CDYL2_ENST00000563890.1_Missense_Mutation_p.D502N|CDYL2_ENST00000562812.1_Missense_Mutation_p.D502N	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	501						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TAAATTTTGTCCTGCAGGTAG	0.557000													23	66					0	0	0.002299	0	0
ZNF318	24149	broad.mit.edu	37	6	43323114	43323114	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:43323114G>A	ENST00000361428.2	-	4	2035	c.1958C>T	c.(1957-1959)tCa>tTa	p.S653L	ZNF318_ENST00000318149.3_Missense_Mutation_p.S653L	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	653					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCGGTCAGCTGAGAAGCGGTG	0.537000													28	83					0	0	0.006320	0	0
NUDT16L1	84309	broad.mit.edu	37	16	4745024	4745024	+	Missense_Mutation	SNP	C	C	G	rs143151090		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:4745024C>G	ENST00000586536.1	+	3	570	c.550C>G	c.(550-552)Cct>Gct	p.P184A	NUDT16L1_ENST00000304301.6_Missense_Mutation_p.F160L|NUDT16L1_ENST00000586252.1_Intron|NUDT16L1_ENST00000405142.1_3'UTR	NM_001193452.1	NP_001180381.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	0	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						TCCCCAACTTCCTGAGCAACG	0.642000													8	46					0	0	0.003080	0	0
POSTN	10631	broad.mit.edu	37	13	38164592	38164592	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:38164592A>G	ENST00000379747.4	-	4	475	c.358T>C	c.(358-360)Tca>Cca	p.S120P	POSTN_ENST00000541179.1_Missense_Mutation_p.S120P|POSTN_ENST00000379749.4_Missense_Mutation_p.S120P|POSTN_ENST00000379743.4_Missense_Mutation_p.S120P|POSTN_ENST00000541481.1_Missense_Mutation_p.S120P|POSTN_ENST00000379742.4_Missense_Mutation_p.S120P	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	120	FAS1 1.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCAGTTTTGAGGCGTCAGAA	0.448000													8	26					0	0	0.003080	0	0
CCDC181	57821	broad.mit.edu	37	1	169390628	169390628	+	Silent	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:169390628T>C	ENST00000545005.1	-	4	1548	c.1041A>G	c.(1039-1041)gaA>gaG	p.E347E	CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000367805.3_Silent_p.E347E|CCDC181_ENST00000367806.3_Silent_p.E347E					coiled-coil domain containing 181																		CTCTCTTTTCTTCTAGTTGTT	0.353000													14	41					0	0	0.001855	0	0
GIMAP1	170575	broad.mit.edu	37	7	150417387	150417387	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:150417387G>A	ENST00000307194.5	+	3	435	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGGCTGTGAGGAGAGAGG	0.647000													22	45					0	0	0.001523	0	0
NPY1R	4886	broad.mit.edu	37	4	164247590	164247590	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:164247590C>A	ENST00000296533.2	-	2	648	c.117G>T	c.(115-117)atG>atT	p.M39I	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	39					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGGTAAATATCATGGCCAAGG	0.408000													32	24					5.45727e-16	1.04768e-15	0.008361	1	0
ACTG1	71	broad.mit.edu	37	17	79478626	79478626	+	Silent	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:79478626C>A	ENST00000575842.1	-	3	816	c.390G>T	c.(388-390)ccG>ccT	p.P130P	ACTG1_ENST00000573283.1_Silent_p.P130P|ACTG1_ENST00000575087.1_Silent_p.P130P|ACTG1_ENST00000331925.2_Silent_p.P130P			P63261	ACTG_HUMAN	actin, gamma 1	130					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGTACATGGCCGGGGTGTTGA	0.612000													43	79					1.03325e-14	1.95229e-14	0.002852	1	0
FARP1	10160	broad.mit.edu	37	13	99061621	99061621	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:99061621G>T	ENST00000376586.2	+	14	1780	c.1444G>T	c.(1444-1446)Gag>Tag	p.E482*	FARP1_ENST00000319562.6_Nonsense_Mutation_p.E482*|FARP1_ENST00000595437.1_Nonsense_Mutation_p.E482*			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	482					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCACCTTTCCGAGCTGTCTGT	0.522000													4	73					0.000602214	0.00105461	0.000602	1	0
RBM42	79171	broad.mit.edu	37	19	36120554	36120554	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:36120554C>G	ENST00000262633.4	+	2	366	c.261C>G	c.(259-261)atC>atG	p.I87M	RBM42_ENST00000592202.1_Missense_Mutation_p.I87M|RBM42_ENST00000589871.1_Missense_Mutation_p.I87M|RBM42_ENST00000588161.1_Missense_Mutation_p.I87M|RBM42_ENST00000586618.1_Missense_Mutation_p.I87M|RBM42_ENST00000589559.1_Missense_Mutation_p.I87M|RBM42_ENST00000360475.4_Missense_Mutation_p.I87M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	87						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCCAATTATCGCGACCAACA	0.567000													14	63					0	0	0.002450	0	0
COL4A1	1282	broad.mit.edu	37	13	110831718	110831718	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:110831718G>A	ENST00000375820.4	-	30	2365	c.2244C>T	c.(2242-2244)ccC>ccT	p.P748P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	748	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CAGGAATGCCGGGAAGACCTG	0.562000													19	70					0	0	0.007413	0	0
SLC43A1	8501	broad.mit.edu	37	11	57259321	57259321	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57259321G>A	ENST00000278426.3	-	9	1241	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.R296C	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	296					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGCTCTTGCGTAAGGGGACA	0.607000											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	46					0	0	0.008291	0	0
WDR34	89891	broad.mit.edu	37	9	131397505	131397505	+	Missense_Mutation	SNP	G	G	A	rs11541003		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:131397505G>A	ENST00000372715.2	-	6	907	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	283						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						ACCTGGAAGCGGTGGCTGTGC	0.652000											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	12					0	0	0.003330	0	0
PCTP	58488	broad.mit.edu	37	17	53848541	53848541	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:53848541A>G	ENST00000576183.1	+	3	377	c.334A>G	c.(334-336)Aga>Gga	p.R112G	PCTP_ENST00000268896.5_Missense_Mutation_p.R112G|PCTP_ENST00000325214.6_Missense_Mutation_p.R40G|PCTP_ENST00000576221.1_3'UTR|PCTP_ENST00000573500.1_Missense_Mutation_p.R112G			Q9UKL6	PPCT_HUMAN	phosphatidylcholine transfer protein	112	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			CATGTCCAACAGAGACGTATC	0.453000													25	61					0	0	0.005443	0	0
L3MBTL2	83746	broad.mit.edu	37	22	41626178	41626178	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:41626178G>T	ENST00000216237.5	+	17	2199	c.2041G>T	c.(2041-2043)Gtg>Ttg	p.V681L	CHADL_ENST00000216241.9_Intron	NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	681					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCATCTAGACGTGGCCTCGCC	0.607000													18	61					6.33239e-15	1.20282e-14	0.001523	1	0
CKAP5	9793	broad.mit.edu	37	11	46765612	46765612	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:46765612C>G	ENST00000529230.1	-	44	6106	c.6060G>C	c.(6058-6060)ttG>ttC	p.L2020F	CKAP5_ENST00000415402.1_Missense_Mutation_p.L2027F|CKAP5_ENST00000312055.5_Missense_Mutation_p.L1960F|CKAP5_ENST00000354558.3_Missense_Mutation_p.L1960F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	2020					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GTCTTTTTTTCAAGTCGTCTA	0.493000													24	65					0	0	0.002780	0	0
DSP	1832	broad.mit.edu	37	6	7579931	7579931	+	Missense_Mutation	SNP	G	G	A	rs139582608		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:7579931G>A	ENST00000379802.3	+	23	3849	c.3508G>A	c.(3508-3510)Gag>Aag	p.E1170K	DSP_ENST00000418664.2_Missense_Mutation_p.E1170K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1170	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.E1170K(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAGGAGTACGAGATTGAAAG	0.438000													9	15					0	0	0.004482	0	0
CDH18	1016	broad.mit.edu	37	5	19483518	19483518	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:19483518C>A	ENST00000507958.1	-	14	2764	c.1774G>T	c.(1774-1776)Gag>Tag	p.E592*	CDH18_ENST00000382275.1_Nonsense_Mutation_p.E592*|CDH18_ENST00000506372.1_Silent_p.A556A|CDH18_ENST00000274170.4_Nonsense_Mutation_p.E592*|CDH18_ENST00000502796.1_Silent_p.A555A			Q13634	CAD18_HUMAN	cadherin 18, type 2	592	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCATCTCTCTCGCATGCACAA	0.517000													9	31					0.00448238	0.00777379	0.004482	1	0
KDM6A	7403	broad.mit.edu	37	X	44922694	44922694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:44922694C>T	ENST00000377967.4	+	16	1596	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R440*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R474*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R526*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	519					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.R519*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TGCACAGGTACGATCTACTGG	0.463000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								19	19					0	0	0.001882	0	0
TIMM22	29928	broad.mit.edu	37	17	902756	902756	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:902756G>A	ENST00000327158.3	+	3	466	c.440G>A	c.(439-441)cGg>cAg	p.R147Q		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	147					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCACAGTACCGGGGAACATCA	0.488000													39	101					0	0	0.004289	0	0
MTA1	9112	broad.mit.edu	37	14	105936520	105936520	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr14:105936520G>A	ENST00000331320.7	+	21	2330	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	RP11-521B24.5_ENST00000552675.1_RNA|MTA1_ENST00000406191.1_Missense_Mutation_p.V694I|MTA1_ENST00000405646.1_Missense_Mutation_p.V689I|MTA1_ENST00000435036.2_Missense_Mutation_p.V246I	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	706					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		ACCTGCGCCCGTCAACGACGA	0.761000													10	22					0	0	0.006214	0	0
OGFOD1	55239	broad.mit.edu	37	16	56503929	56503929	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:56503929G>A	ENST00000566157.1	+	9	1038	c.915G>A	c.(913-915)acG>acA	p.T305T	OGFOD1_ENST00000568397.1_Silent_p.T262T	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	305							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AGAAATTCACGAAAGTCTGTG	0.478000													9	36					0	0	0.000978	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													4	45					0	0	0.000248	0	0
TMEM181	57583	broad.mit.edu	37	6	159050835	159050835	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:159050835G>A	ENST00000367090.3	+	15	1688	c.1677G>A	c.(1675-1677)tcG>tcA	p.S559S		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	559					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		ATTCTCCATCGAAGAATGCCC	0.542000													41	42					0	0	0.006230	0	0
PRKX	5613	broad.mit.edu	37	X	3592789	3592789	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:3592789C>G	ENST00000262848.5	-	2	539	c.185G>C	c.(184-186)cGg>cCg	p.R62P		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	62	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CAGGTGCACCCGCCCGAACGT	0.552000													25	22					0	0	0.004656	0	0
C5orf20	140947	broad.mit.edu	37	5	134782555	134782555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:134782555G>A	ENST00000503143.2	-	1	483	c.244C>T	c.(244-246)Cga>Tga	p.R82*	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	82						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCCCCTCTCGCAGGACCCCA	0.592000													19	54					0	0	0.007413	0	0
C1orf65	164127	broad.mit.edu	37	1	223567884	223567884	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:223567884C>T	ENST00000366875.3	+	1	1170	c.1067C>T	c.(1066-1068)cCg>cTg	p.P356L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	356								p.P356L(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CAGGAGAGCCCGCGCCAGGAG	0.687000													6	11					0	0	0.001168	0	0
DNAH11	8701	broad.mit.edu	37	7	21639563	21639563	+	Silent	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:21639563G>T	ENST00000328843.6	+	15	2857	c.2826G>T	c.(2824-2826)ccG>ccT	p.P942P	DNAH11_ENST00000409508.3_Silent_p.P942P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	942	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AACCGGCACCGTTTTTTCAAG	0.408000									Kartagener syndrome				45	19					1.15505e-17	2.24142e-17	0.002222	1	0
AKAP9	10142	broad.mit.edu	37	7	91630769	91630769	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:91630769A>T	ENST00000359028.2	+	9	1799	c.1574A>T	c.(1573-1575)aAg>aTg	p.K525M	AKAP9_ENST00000356239.3_Missense_Mutation_p.K513M|AKAP9_ENST00000358100.2_Missense_Mutation_p.K525M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	525	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAAAACTCAAGGAAGAACTA	0.323000			T	BRAF	papillary thyroid								18	51					0	0	0.007413	0	0
GYPA	2993	broad.mit.edu	37	4	145039887	145039887	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:145039887G>A	ENST00000360771.4	-	4	366	c.251C>T	c.(250-252)gCc>gTc	p.A84V	GYPA_ENST00000504786.1_Missense_Mutation_p.A52V|GYPA_ENST00000535709.1_Missense_Mutation_p.A58V|GYPA_ENST00000503627.1_Intron|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000324022.10_Missense_Mutation_p.A51V|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000512789.1_Missense_Mutation_p.A19V	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	84			A -> P (in ENEP/HAG antigen).		interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GAAATGATGGGCAAGTTGTAC	0.313000													36	17					0	0	0.002222	0	0
PRKCE	5581	broad.mit.edu	37	2	46378288	46378288	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:46378288G>T	ENST00000306156.3	+	13	2167	c.1840G>T	c.(1840-1842)Gac>Tac	p.D614Y		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	614	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAATGAGGACGACCTATTTGA	0.587000													10	36					3.86212e-05	6.86387e-05	0.008291	1	0
COL4A2	1284	broad.mit.edu	37	13	111090996	111090996	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:111090996T>A	ENST00000360467.5	+	15	1199	c.893T>A	c.(892-894)aTg>aAg	p.M298K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	298	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAAGGAATCATGGGCTTTCCT	0.527000													31	76					0	0	0.002836	0	0
FAM162B	221303	broad.mit.edu	37	6	117086702	117086702	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:117086702C>T	ENST00000368557.4	-	1	184	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	13						integral to membrane				large_intestine(2)|lung(4)	6						TGTTAGCCCGCGGCCAAGGCG	0.761000													7	6					0	0	0.001984	0	0
PKD1	5310	broad.mit.edu	37	16	2159316	2159316	+	Missense_Mutation	SNP	C	C	T	rs137905643	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:2159316C>T	ENST00000262304.4	-	15	6060	c.5852G>A	c.(5851-5853)cGg>cAg	p.R1951Q	PKD1_ENST00000423118.1_Missense_Mutation_p.R1951Q	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1951	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			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						GTTTTTGCCCCGCACGCTCAC	0.706000													5	28					0	0	0.000602	0	0
OR13C4	138804	broad.mit.edu	37	9	107288722	107288722	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:107288722A>G	ENST00000277216.3	-	1	768	c.769T>C	c.(769-771)Ttt>Ctt	p.F257L		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCATACATAAAGAAGATGGTA	0.468000													73	42					0	0	0.003610	0	0
RET	5979	broad.mit.edu	37	10	43604533	43604533	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr10:43604533C>T	ENST00000355710.3	+	6	1350	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	RET_ENST00000340058.5_Missense_Mutation_p.A373V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	373					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.A373V(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ATGCAGCTGGCGGTGCTGGTC	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				16	36					0	0	0.004007	0	0
MYOM3	127294	broad.mit.edu	37	1	24434494	24434494	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:24434494G>A	ENST00000330966.7	-	3	396	c.234C>T	c.(232-234)tcC>tcT	p.S78S	MYOM3_ENST00000374434.3_Silent_p.S77S|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Silent_p.S77S			Q5VTT5	MYOM3_HUMAN	myomesin 3	77										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		AAGACAGCTCGGAGGAGGCCG	0.652000													15	43					0	0	0.003163	0	0
DPH1	1801	broad.mit.edu	37	17	1936810	1936810	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:1936810C>T	ENST00000263083.6	+	2	133	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	30					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCGGGCCCCTCGGGGCCGCGT	0.572000													27	75					0	0	0.007291	0	0
PCDH9	5101	broad.mit.edu	37	13	67801103	67801103	+	Silent	SNP	A	A	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:67801103A>T	ENST00000544246.1	-	2	2161	c.1470T>A	c.(1468-1470)acT>acA	p.T490T	PCDH9_ENST00000456367.1_Silent_p.T490T|PCDH9_ENST00000377861.3_Silent_p.T490T|PCDH9_ENST00000377865.2_Silent_p.T490T|PCDH9_ENST00000328454.5_Silent_p.T490T	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	490	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGCACTAATAGTTGTTAAGT	0.413000													27	62					0	0	0.008361	0	0
OR5B3	441608	broad.mit.edu	37	11	58170743	58170743	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:58170743A>G	ENST00000309403.2	-	1	139	c.140T>C	c.(139-141)aTa>aCa	p.I47T		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATCCCAGAATATCAATACAAT	0.423000													3	101					0	0	0.004672	0	0
C11orf30	56946	broad.mit.edu	37	11	76255467	76255467	+	Silent	SNP	G	G	A	rs149047897		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:76255467G>A	ENST00000529032.1	+	18	2874	c.2874G>A	c.(2872-2874)ccG>ccA	p.P958P	C11orf30_ENST00000524767.1_Silent_p.P973P|C11orf30_ENST00000524490.1_Silent_p.P860P|C11orf30_ENST00000525038.1_Silent_p.P959P|C11orf30_ENST00000334736.3_Silent_p.P958P|C11orf30_ENST00000525919.1_Silent_p.P959P|C11orf30_ENST00000343878.3_Silent_p.P958P|C11orf30_ENST00000533248.1_Silent_p.P867P			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	958	Gln-rich.				chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GCCAGCCCCCGCTGGAACAGA	0.517000													24	80					0	0	0.002780	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435719	104435719	+	RNA	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:104435719T>A	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							ATCACTTGACTCAGAGAGTGA	0.403000													4	6					0	0	0.000248	0	0
RINL	126432	broad.mit.edu	37	19	39361379	39361379	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:39361379G>A	ENST00000340740.3	-	8	900	c.513C>T	c.(511-513)atC>atT	p.I171I	RINL_ENST00000602238.1_Intron|RINL_ENST00000598904.1_Silent_p.I171I|RINL_ENST00000591812.1_Silent_p.I285I|CTC-360G5.6_ENST00000593830.1_RNA	NM_001195833.1|NM_198445.3	NP_001182762.1|NP_940847.1	Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	171							GTPase activator activity	p.I171I(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						AATCTGAGGCGATGCGCACCC	0.647000													14	31					0	0	0.002450	0	0
PLCB3	5331	broad.mit.edu	37	11	64033975	64033975	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:64033975C>G	ENST00000540288.1	+	29	3468	c.3365C>G	c.(3364-3366)aCg>aGg	p.T1122R	PLCB3_ENST00000279230.6_Missense_Mutation_p.T1122R|PLCB3_ENST00000325234.5_Missense_Mutation_p.T1055R	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	1122					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGGAACTGACGGAGATTAAC	0.652000													8	49					0	0	0.006214	0	0
FAM135B	51059	broad.mit.edu	37	8	139163587	139163587	+	Missense_Mutation	SNP	A	A	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:139163587A>T	ENST00000395297.1	-	13	3301	c.3131T>A	c.(3130-3132)tTc>tAc	p.F1044Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1044								p.F1044C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACAGATGAGAAAGGGAGACA	0.532000										HNSCC(54;0.14)			34	46					0	0	0.003755	0	0
KMT2C	58508	broad.mit.edu	37	7	151945611	151945611	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:151945611A>C	ENST00000355193.2	-	14	2126	c.1908T>G	c.(1906-1908)caT>caG	p.H636Q	KMT2C_ENST00000262189.6_Missense_Mutation_p.H636Q					lysine (K)-specific methyltransferase 2C																		CGCCACAAATATGCTTCACTT	0.363000													21	44					0	0	0.001523	0	0
CLDN18	51208	broad.mit.edu	37	3	137717874	137717874	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:137717874G>A	ENST00000343735.4	+	1	298	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	55					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TCCTGTGTCCGAGAGAGCTCT	0.602000													28	73					0	0	0.007291	0	0
C19orf44	84167	broad.mit.edu	37	19	16613911	16613911	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:16613911C>T	ENST00000221671.3	+	3	951	c.795C>T	c.(793-795)agC>agT	p.S265S	C19orf44_ENST00000594035.1_Silent_p.S265S|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	265										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CTGTACCCAGCGTGGAACTCT	0.443000													34	60					0	0	0.006230	0	0
ENOX2	10495	broad.mit.edu	37	X	129771269	129771269	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:129771269T>G	ENST00000338144.3	-	12	1749	c.1332A>C	c.(1330-1332)agA>agC	p.R444S	ENOX2_ENST00000394363.1_Missense_Mutation_p.R415S|ENOX2_ENST00000370935.1_Missense_Mutation_p.R415S|ENOX2_ENST00000370927.1_Missense_Mutation_p.R444S	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	444					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			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GGTCATCTTCTCTGTGGACTT	0.478000													84	54					0	0	0.003610	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113210456	113210456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:113210456G>A	ENST00000261965.3	-	6	817	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.Q211*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	211					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GAAGAAGGCTGATTTGCAGTT	0.493000													18	42					0	0	0.006122	0	0
DCHS1	8642	broad.mit.edu	37	11	6654065	6654065	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:6654065G>A	ENST00000299441.3	-	6	3089	c.2678C>T	c.(2677-2679)gCc>gTc	p.A893V	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	893	Cadherin 8.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGGAAAGGCAGGGGAGTT	0.582000													4	30					0	0	0.000248	0	0
ME3	10873	broad.mit.edu	37	11	86270821	86270821	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:86270821G>C	ENST00000543262.1	-	3	554	c.228C>G	c.(226-228)caC>caG	p.H76Q	ME3_ENST00000393324.3_Missense_Mutation_p.H76Q|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.H76Q|ME3_ENST00000323418.6_Missense_Mutation_p.H14Q	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	76					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GGATTAGGCCGTGGATTCCAA	0.522000													28	106					0	0	0.005443	0	0
NMUR1	10316	broad.mit.edu	37	2	232393435	232393435	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:232393435G>C	ENST00000305141.4	-	2	430	c.297C>G	c.(295-297)ctC>ctG	p.L99L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	99					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCAGGCTGAAGAGGTAGTAGT	0.622000													38	71					0	0	0.005524	0	0
OR4C15	81309	broad.mit.edu	37	11	55322294	55322294	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:55322294T>A	ENST00000314644.2	+	1	512	c.512T>A	c.(511-513)aTg>aAg	p.M171K		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						CTCACAGCCATGGCCTATGAT	0.498000										HNSCC(20;0.049)			77	76					0	0	0.003610	0	0
MDN1	23195	broad.mit.edu	37	6	90384055	90384055	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:90384055G>T	ENST00000369393.3	-	79	13130	c.13015C>A	c.(13015-13017)Ctt>Att	p.L4339I	MDN1_ENST00000428876.1_Missense_Mutation_p.L4339I|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4339					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCTTGCTAAGTTCTGGTCCT	0.587000													37	39					3.93418e-24	7.71788e-24	0.004289	1	0
PLD5	200150	broad.mit.edu	37	1	242287898	242287898	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:242287898G>C	ENST00000442594.2	-	7	1038	c.529C>G	c.(529-531)Cta>Gta	p.L177V	PLD5_ENST00000536534.1_Missense_Mutation_p.L269V|PLD5_ENST00000427495.1_Missense_Mutation_p.L207V	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	269						integral to membrane	catalytic activity			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)			GAACTATATAGAGCAAATATC	0.368000													7	25					0	0	0.001984	0	0
GPR110	266977	broad.mit.edu	37	6	46977268	46977268	+	Missense_Mutation	SNP	A	A	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:46977268A>C	ENST00000371253.2	-	11	2118	c.1903T>G	c.(1903-1905)Ttg>Gtg	p.L635V	GPR110_ENST00000283297.5_Missense_Mutation_p.L438V|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	635					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TCAGCAATCAAGAGGGACAGG	0.458000													15	17					0	0	0.003163	0	0
RFX6	222546	broad.mit.edu	37	6	117246774	117246774	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:117246774G>A	ENST00000332958.2	+	16	1853	c.1837G>A	c.(1837-1839)Gct>Act	p.A613T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	613					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCTAGGCCCTGCTCTGCACCA	0.547000													38	81					0	0	0.004289	0	0
TFPI	7035	broad.mit.edu	37	2	188368459	188368459	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:188368459C>T	ENST00000233156.3	-	2	331	c.37G>A	c.(37-39)Gct>Act	p.A13T	TFPI_ENST00000409676.1_Missense_Mutation_p.A13T|AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000392365.1_Missense_Mutation_p.A13T|TFPI_ENST00000339091.4_Missense_Mutation_p.A13T	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	13					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CATACAGAAGCCCAAAGTGCA	0.368000													16	53					0	0	0.004007	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923892	43923892	+	Silent	SNP	C	C	T	rs140347532	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:43923892C>T	ENST00000329196.5	+	1	1637	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	540						integral to membrane	aspartic-type endopeptidase activity										TCGGCTGTGCCCCTTCAGCTG	0.642000													27	49					0	0	0.007291	0	0
MYO5A	4644	broad.mit.edu	37	15	52672101	52672101	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:52672101C>G	ENST00000399231.3	-	17	2260	c.2017G>C	c.(2017-2019)Gat>Cat	p.D673H	MYO5A_ENST00000356338.6_Missense_Mutation_p.D673H|MYO5A_ENST00000358212.6_Missense_Mutation_p.D673H|MYO5A_ENST00000399233.2_Missense_Mutation_p.D673H|MYO5A_ENST00000553916.1_Missense_Mutation_p.D673H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	673	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCTTCTCATCAAACCTACAA	0.493000													18	53					0	0	0.006122	0	0
DAPK2	23604	broad.mit.edu	37	15	64204146	64204146	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:64204146C>T	ENST00000261891.3	-	10	998	c.993G>A	c.(991-993)tcG>tcA	p.S331S	DAPK2_ENST00000457488.1_Silent_p.S331S			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	331	Calmodulin-binding.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCTTCATCAGCGAGCGGGTGA	0.577000													9	22					0	0	0.004482	0	0
PLEC	5339	broad.mit.edu	37	8	144996309	144996309	+	Silent	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:144996309A>G	ENST00000322810.4	-	32	8260	c.8091T>C	c.(8089-8091)caT>caC	p.H2697H	PLEC_ENST00000527096.1_Silent_p.H2583H|PLEC_ENST00000436759.2_Silent_p.H2587H|PLEC_ENST00000357649.2_Silent_p.H2564H|PLEC_ENST00000398774.2_Silent_p.H2528H|PLEC_ENST00000356346.3_Silent_p.H2546H|PLEC_ENST00000354958.2_Silent_p.H2538H|PLEC_ENST00000354589.3_Silent_p.H2560H|PLEC_ENST00000345136.3_Silent_p.H2560H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2697	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTCGGCCTCATGCTGCCGCC	0.706000													7	3					0	0	0.003080	0	0
PCDH8	5100	broad.mit.edu	37	13	53422221	53422221	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr13:53422221C>T	ENST00000377942.3	-	1	554	c.351G>A	c.(349-351)cgG>cgA	p.R117R	PCDH8_ENST00000338862.4_Silent_p.R117R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	117	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CGTGCACCAGCCGGAACTGCT	0.706000													26	47					0	0	0.003954	0	0
PRIM1	5557	broad.mit.edu	37	12	57145981	57145981	+	Splice_Site	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:57145981T>A	ENST00000338193.6	-	1	138	c.103_splice	c.e1+1	p.G34_splice	HSD17B6_ENST00000555805.1_5'UTR|HSD17B6_ENST00000555159.1_5'UTR	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	34					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						CTCCATCACCTCCACCGTAGT	0.562000													9	13					0	0	0.000978	0	0
ADRBK1	156	broad.mit.edu	37	11	67048572	67048572	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:67048572G>C	ENST00000308595.5	+	8	854	c.564G>C	c.(562-564)atG>atC	p.M188I	ADRBK1_ENST00000526285.1_Missense_Mutation_p.M188I	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	188	N-terminal.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCTGACCATGAATGACTTCA	0.662000													22	64					0	0	0.003330	0	0
DCAF12	25853	broad.mit.edu	37	9	34125196	34125196	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr9:34125196C>G	ENST00000361264.4	-	2	499	c.158G>C	c.(157-159)cGg>cCg	p.R53P	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	53						centrosome|CUL4 RING ubiquitin ligase complex				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CCTGACTTCCCGGTTCTTCAA	0.453000													16	42					0	0	0.003163	0	0
KRT4	3851	broad.mit.edu	37	12	53208022	53208022	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:53208022C>T	ENST00000293774.4	-	1	313	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	KRT4_ENST00000551956.1_5'UTR			B4DRS2	B4DRS2_HUMAN	keratin 4	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCATCCTTCCCGCACCCGTTG	0.527000													33	76					0	0	0.003755	0	0
GGA2	23062	broad.mit.edu	37	16	23498078	23498078	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:23498078C>G	ENST00000309859.4	-	7	695	c.613G>C	c.(613-615)Gag>Cag	p.E205Q	GGA2_ENST00000567468.1_Missense_Mutation_p.E205Q	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	205	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGAAGGTCCTCGGGGTGGTTG	0.507000													64	154					0	0	0.003610	0	0
PDE4B	5142	broad.mit.edu	37	1	66723334	66723334	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:66723334G>A	ENST00000423207.2	+	3	921	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	PDE4B_ENST00000329654.4_Missense_Mutation_p.G161S|PDE4B_ENST00000371049.3_Missense_Mutation_p.G161S|PDE4B_ENST00000371048.3_3'UTR	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	161					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			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)	CACCAGACACGGCGATGACTT	0.368000													46	124					0	0	0.002522	0	0
LAMA2	3908	broad.mit.edu	37	6	129637001	129637001	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:129637001G>C	ENST00000421865.2	+	26	3879	c.3830G>C	c.(3829-3831)cGa>cCa	p.R1277P		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1277	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGATCATTCGAGGTGGGACA	0.443000													141	71					0	0	0.003610	0	0
VPS39	23339	broad.mit.edu	37	15	42457994	42457994	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:42457994C>T	ENST00000318006.5	-	17	1863	c.1701G>A	c.(1699-1701)ccG>ccA	p.P567P	VPS39_ENST00000348544.4_Silent_p.P578P	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	578					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTCCACTTCCGGGAGATCTT	0.473000													8	40					0	0	0.003080	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27499677	27499677	+	Silent	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:27499677C>A	ENST00000296097.3	+	3	499	c.81C>A	c.(79-81)ggC>ggA	p.G27G	DNAJC5G_ENST00000402462.1_Silent_p.G27G|DNAJC5G_ENST00000406962.1_Silent_p.G27G|DNAJC5G_ENST00000404433.1_Silent_p.G27G	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	27	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTAAGAAGGGCGCCTCACCTG	0.463000													20	21					1.01871e-10	1.91475e-10	0.008871	1	0
MEST	4232	broad.mit.edu	37	7	130139737	130139737	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:130139737G>A	ENST00000223215.4	+	7	778	c.557G>A	c.(556-558)cGt>cAt	p.R186H	MEST_ENST00000416162.2_Missense_Mutation_p.R177H|MEST_ENST00000341441.4_Missense_Mutation_p.R177H|MEST_ENST00000378576.4_Missense_Mutation_p.R177H|MEST_ENST00000393187.1_Missense_Mutation_p.R177H|MEST_ENST00000437945.1_Missense_Mutation_p.R186H|MEST_ENST00000462132.1_3'UTR	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	186					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GAGACTCACCGTCCACTCCTT	0.388000													16	52					0	0	0.004990	0	0
HSPG2	3339	broad.mit.edu	37	1	22178186	22178186	+	Silent	SNP	G	G	A	rs150649767		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:22178186G>A	ENST00000374695.3	-	55	7090	c.7011C>T	c.(7009-7011)gcC>gcT	p.A2337A	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2337	Ig-like C2-type 8.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTGCTGCCGGCAGCTGAGG	0.652000													31	78					0	0	0.008361	0	0
CCDC24	149473	broad.mit.edu	37	1	44461731	44461731	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:44461731C>G	ENST00000372318.3	+	9	994	c.823C>G	c.(823-825)Cag>Gag	p.Q275E	SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000486064.1_3'UTR|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	275										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACCTCGAGGCCAGTCGGCTAC	0.682000													22	51					0	0	0.001882	0	0
KRT1	3848	broad.mit.edu	37	12	53069099	53069099	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:53069099C>A	ENST00000252244.3	-	9	1871	c.1813G>T	c.(1813-1815)Ggc>Tgc	p.G605C		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	605	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTCCCGCCGCCAGAGCCCCGg	0.692000													7	53					2.23348e-06	4.0496e-06	0.004007	1	0
NCEH1	57552	broad.mit.edu	37	3	172365793	172365793	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:172365793C>G	ENST00000475381.1	-	2	483	c.250G>C	c.(250-252)Gac>Cac	p.D84H	NCEH1_ENST00000273512.3_Missense_Mutation_p.D116H|NCEH1_ENST00000538775.1_Missense_Mutation_p.D116H|NCEH1_ENST00000543711.1_Intron			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	84					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AAGTCTGTGTCGGTCACCTTC	0.517000													13	83					0	0	0.001855	0	0
MEOX2	4223	broad.mit.edu	37	7	15652017	15652017	+	Silent	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:15652017A>G	ENST00000262041.5	-	3	1319	c.910T>C	c.(910-912)Tta>Cta	p.L304L		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	304					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TTATATCATAAGTGCGCATGC	0.478000													9	204					0	0	0.008291	0	0
NEIL1	79661	broad.mit.edu	37	15	75641450	75641450	+	Silent	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:75641450C>G	ENST00000564784.1	+	3	833	c.204C>G	c.(202-204)ccC>ccG	p.P68P	NEIL1_ENST00000569035.1_Silent_p.P68P|NEIL1_ENST00000355059.4_Silent_p.P68P|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	68					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GGGCCCAGCCCCAACAGGAGC	0.657000								Base excision repair (BER), DNA glycosylases					13	44					0	0	0.002450	0	0
DNM2	1785	broad.mit.edu	37	19	10923011	10923011	+	Silent	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:10923011T>C	ENST00000314646.5	+	15	1793	c.1629T>C	c.(1627-1629)ttT>ttC	p.F543F	DNM2_ENST00000408974.4_Silent_p.F539F|DNM2_ENST00000359692.6_Silent_p.F539F|DNM2_ENST00000585892.1_Silent_p.F543F|DNM2_ENST00000389253.4_Silent_p.F543F|DNM2_ENST00000355667.6_Silent_p.F543F			P50570	DYN2_HUMAN	dynamin 2	543	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGTACTGGTTTGTGCTGACTG	0.622000			"""F, N, Splice, Mis, O"""		ETP ALL								3	14					0	0	0.004672	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74876129	74876129	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr14:74876129C>T	ENST00000331628.3	-	2	566	c.319G>A	c.(319-321)Gga>Aga	p.G107R	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.G107R	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	107					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						TGGCCAGGTCCTGTGGGCTGC	0.617000													32	66					0	0	0.001786	0	0
GALP	85569	broad.mit.edu	37	19	56688559	56688559	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:56688559C>T	ENST00000357330.2	+	2	164	c.82C>T	c.(82-84)Cac>Tac	p.H28Y	GALP_ENST00000440823.1_Missense_Mutation_p.H28Y|GALP_ENST00000590002.1_Missense_Mutation_p.H28Y	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	28					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CGCACCTGCCCACCGGGTAAC	0.587000													4	19					0	0	0.000248	0	0
ZNF768	79724	broad.mit.edu	37	16	30536711	30536711	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:30536711G>A	ENST00000380412.5	-	2	925	c.750C>T	c.(748-750)ggC>ggT	p.G250G	ZNF768_ENST00000562803.1_Silent_p.G219G	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	250					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						CCCTGGCCCGGCCACCCCGCC	0.662000													4	83					0	0	0.000248	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831597	7831597	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:7831597C>G	ENST00000327325.5	+	5	958	c.840C>G	c.(838-840)taC>taG	p.Y280*	CLEC4M_ENST00000596363.1_Nonsense_Mutation_p.Y252*|CLEC4M_ENST00000394122.2_Nonsense_Mutation_p.Y268*|CLEC4M_ENST00000597522.1_Nonsense_Mutation_p.Y188*|CLEC4M_ENST00000359059.5_Nonsense_Mutation_p.Y213*|CLEC4M_ENST00000357361.2_Nonsense_Mutation_p.Y280*|CLEC4M_ENST00000596707.1_Nonsense_Mutation_p.Y213*|CLEC4M_ENST00000595496.1_Nonsense_Mutation_p.Y144*|CLEC4M_ENST00000334806.5_Nonsense_Mutation_p.Y229*|CLEC4M_ENST00000248228.4_Nonsense_Mutation_p.Y258*	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	280	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAAACTGTTACTTCATGTCTA	0.577000													17	75					0	0	0.004007	0	0
DDI1	414301	broad.mit.edu	37	11	103908268	103908268	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:103908268C>A	ENST00000302259.3	+	1	961	c.718C>A	c.(718-720)Caa>Aaa	p.Q240K	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	240					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GAGTTTTGGACAAGTGACGAT	0.478000													33	179					5.8336e-16	1.11397e-15	0.003271	1	0
GPX4	2879	broad.mit.edu	37	19	1105487	1105487	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:1105487C>T	ENST00000354171.8	+	3	409	c.302C>T	c.(301-303)cCg>cTg	p.P101L	GPX4_ENST00000589115.1_Missense_Mutation_p.P101L	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	101					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|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)	Glutathione(DB00143)	CTGGCCTTCCCGTGTAACCAG	0.667000													15	42					0	0	0.004007	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523424	49523424	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:49523424C>G	ENST00000336023.5	-	2	179	c.85G>C	c.(85-87)Ggc>Cgc	p.G29R	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	29					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGCTGGATGCCGTGTTCCAGG	0.577000													13	88					0	0	0.001368	0	0
SAAL1	113174	broad.mit.edu	37	11	18113850	18113850	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:18113850C>A	ENST00000524803.1	-	4	404	c.355G>T	c.(355-357)Ggt>Tgt	p.G119C	SAAL1_ENST00000300013.4_Missense_Mutation_p.G119C|SAAL1_ENST00000529318.1_Missense_Mutation_p.G119C|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	119					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GCCATATTACCTAAAATTCCC	0.318000													11	23					7.93312e-07	1.45306e-06	0.002450	1	0
AP5B1	91056	broad.mit.edu	37	11	65547050	65547050	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:65547050G>A	ENST00000532090.2	-	2	1124	c.914C>T	c.(913-915)cCg>cTg	p.P305L		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	248	Leu-rich.						protein binding			lung(1)	1						GAAGAGTGCCGGTGGCTGTCC	0.647000													5	24					0	0	0.000602	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31958354	31958354	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:31958354C>G	ENST00000357886.4	-	12	1538	c.1385G>C	c.(1384-1386)cGg>cCg	p.R462P	CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R371P|CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R358P|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R448P|CDK5RAP1_ENST00000544843.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	462					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.R448L(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CTGAACTTCCCGGAGCAAAGA	0.537000													35	122					0	0	0.003755	0	0
GBP4	115361	broad.mit.edu	37	1	89651007	89651007	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:89651007A>G	ENST00000355754.6	-	11	1950	c.1853T>C	c.(1852-1854)aTg>aCg	p.M618T	GBP4_ENST00000471938.1_5'UTR	NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	618						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AGTGACAATCATTATGTTGCT	0.353000													9	42					0	0	0.006214	0	0
MTMR2	8898	broad.mit.edu	37	11	95569429	95569429	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:95569429G>A	ENST00000393223.3	-	16	2099	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	MTMR2_ENST00000352297.7_Silent_p.F479F|MTMR2_ENST00000409459.1_Silent_p.F479F|MTMR2_ENST00000346299.5_Silent_p.F551F	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	551	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAGGATTAGTGAAGTCTTCCA	0.443000													16	106					0	0	0.003163	0	0
ATP6V1G2-DDX39B	100532737	broad.mit.edu	37	6	31514269	31514269	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:31514269G>T	ENST00000376185.1	-	1	90	c.68C>A	c.(67-69)gCa>gAa	p.A23E	ATP6V1G2_ENST00000303892.5_Missense_Mutation_p.A23E|ATP6V1G2-DDX39B_ENST00000475917.1_5'UTR|ATP6V1G2_ENST00000483170.1_Intron|ATP6V1G2_ENST00000483251.1_Intron|ATP6V1G2_ENST00000376151.4_Missense_Mutation_p.A23E																							TCTGGCATCTGCCACCTTCTC	0.512000													7	17					0.00198382	0.00345724	0.001984	1	0
HIRA	7290	broad.mit.edu	37	22	19398284	19398284	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr22:19398284C>T	ENST00000263208.5	-	2	311	c.55G>A	c.(55-57)Gtt>Att	p.V19I	HIRA_ENST00000541063.1_5'UTR|HIRA_ENST00000546308.1_5'UTR|HIRA_ENST00000464189.1_5'UTR|HIRA_ENST00000340170.4_Missense_Mutation_p.V19I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	19					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TGAATATCAACTGAAAAAATC	0.383000													49	157					0	0	0.003610	0	0
MROH7	374977	broad.mit.edu	37	1	55167769	55167769	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:55167769G>C	ENST00000414150.2	+	20	3570	c.3292G>C	c.(3292-3294)Gag>Cag	p.E1098Q	MROH7_ENST00000421030.2_Missense_Mutation_p.E1098Q|MROH7_ENST00000454855.2_Missense_Mutation_p.E616Q|MROH7_ENST00000409996.1_Missense_Mutation_p.E666Q					maestro heat-like repeat family member 7																		CCAGGCACGAGAGGTCGTGCG	0.607000													14	30					0	0	0.002450	0	0
CXorf58	254158	broad.mit.edu	37	X	23956699	23956699	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:23956699C>A	ENST00000379211.3	+	8	1370	c.821C>A	c.(820-822)cCc>cAc	p.P274H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	274										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CTATATCGGCCCTACAAACAG	0.323000													28	25					2.46105e-21	4.80173e-21	0.002096	1	0
NEK11	79858	broad.mit.edu	37	3	130748710	130748710	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:130748710G>C	ENST00000383366.4	+	3	451	c.158G>C	c.(157-159)cGa>cCa	p.R53P	NEK11_ENST00000508196.1_Missense_Mutation_p.R53P|NEK11_ENST00000510769.1_Missense_Mutation_p.R53P|NEK11_ENST00000510688.1_Missense_Mutation_p.R53P|NEK11_ENST00000511262.1_Missense_Mutation_p.R53P|NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.R53P|NEK11_ENST00000429253.2_Missense_Mutation_p.R53P|NEK11_ENST00000507910.1_Missense_Mutation_p.R53P	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	53	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AAAGCCAAACGAGGAGAGGAA	0.413000													17	38					0	0	0.007413	0	0
KSR2	283455	broad.mit.edu	37	12	117923489	117923489	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:117923489T>C	ENST00000425217.1	-	15	2194	c.2140A>G	c.(2140-2142)Aag>Gag	p.K714E	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.K743E	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	743	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCGTCCCTTACAGAGGCTG	0.443000													11	48					0	0	0.000978	0	0
PKP3	11187	broad.mit.edu	37	11	399010	399010	+	Missense_Mutation	SNP	G	G	A	rs141688536	byFrequency	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:399010G>A	ENST00000331563.2	+	5	1163	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	363					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTCAGGCCGTGCCTAGGCT	0.602000													11	81					0	0	0.001368	0	0
COL5A3	50509	broad.mit.edu	37	19	10090691	10090691	+	Silent	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr19:10090691G>A	ENST00000264828.3	-	36	2722	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	879	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGGCCCAGGGAATCCTGGAG	0.612000													9	26					0	0	0.008291	0	0
FAM73A	374986	broad.mit.edu	37	1	78340631	78340631	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:78340631G>A	ENST00000370791.3	+	16	1813	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	FAM73A_ENST00000443751.2_Missense_Mutation_p.R557H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	594						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TTACTCATTCGCCGCACTGAG	0.423000													11	36					0	0	0.008291	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338000													4	46					0	0	0.000248	0	0
HCN4	10021	broad.mit.edu	37	15	73616247	73616247	+	Silent	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:73616247G>C	ENST00000261917.3	-	8	3180	c.2187C>G	c.(2185-2187)ctC>ctG	p.L729L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	729					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCCGGAGTTGAGGTCGTGCT	0.592000													23	68					0	0	0.002780	0	0
KRTAP5-2	440021	broad.mit.edu	37	11	1618959	1618959	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:1618959C>A	ENST00000412090.1	-	1	565	c.522G>T	c.(520-522)caG>caT	p.Q174H	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	174						keratin filament				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGATCTTACACTGGCAGCACA	0.567000													28	126					1.74197e-06	3.17446e-06	0.006320	1	0
EVC2	132884	broad.mit.edu	37	4	5586437	5586437	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:5586437G>C	ENST00000310917.2	-	17	3461	c.2730C>G	c.(2728-2730)agC>agG	p.S910R	EVC2_ENST00000344408.5_Missense_Mutation_p.S990R|EVC2_ENST00000344938.1_Missense_Mutation_p.S990R	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	990						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGTCCTGGATGCTGAGGAGGG	0.617000													6	38					0	0	0.001168	0	0
DGKD	8527	broad.mit.edu	37	2	234368410	234368410	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:234368410C>T	ENST00000264057.2	+	23	2714	c.2702C>T	c.(2701-2703)aCg>aTg	p.T901M	DGKD_ENST00000409813.3_Missense_Mutation_p.T857M	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	901					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CAGTGTCGCACGGTGAAGATC	0.562000													14	32					0	0	0.004007	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45950253	45950253	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:45950253C>T	ENST00000531526.1	+	14	2134	c.2023C>T	c.(2023-2025)Cgc>Tgc	p.R675C	GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R644C|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R644C|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R675C|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R675C	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	675					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GGACATCTCCCGCTTCCGCTC	0.632000													29	83					0	0	0.002096	0	0
TRIO	7204	broad.mit.edu	37	5	14477072	14477072	+	Splice_Site	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr5:14477072C>G	ENST00000344204.4	+	41	6177	c.6153_splice	c.e41+1	p.H2051_splice	TRIO_ENST00000537187.1_Splice_Site_p.H2051_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2051	DH 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.H2051H(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)					TTGTTAAACACGTAAGCACAA	0.353000													4	20					0	0	0.000248	0	0
LRP1B	53353	broad.mit.edu	37	2	141571249	141571249	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:141571249T>G	ENST00000389484.3	-	32	6307	c.5336A>C	c.(5335-5337)aAa>aCa	p.K1779T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1779					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		GGCTGTAGCTTTTGTTAATTC	0.358000										TSP Lung(27;0.18)			22	35					0	0	0.002299	0	0
SI	6476	broad.mit.edu	37	3	164754249	164754249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:164754249C>A	ENST00000264382.3	-	22	2505	c.2443G>T	c.(2443-2445)Gga>Tga	p.G815*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	815	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ACTATAAGTCCTAGAGGATTC	0.338000										HNSCC(35;0.089)			15	43					0.000422831	0.0007441	0.004007	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745481	77745481	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:77745481G>T	ENST00000409088.3	-	3	1928	c.1514C>A	c.(1513-1515)cCc>cAc	p.P505H	LRRTM4_ENST00000409911.1_Missense_Mutation_p.P506H|LRRTM4_ENST00000409282.1_Missense_Mutation_p.P506H|LRRTM4_ENST00000409884.1_Missense_Mutation_p.P505H|LRRTM4_ENST00000409093.1_Missense_Mutation_p.P505H	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	505						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		ATATGTGCAGGGCCCAGATCC	0.443000													12	23					2.80697e-09	5.22126e-09	0.000978	1	0
RSPH4A	345895	broad.mit.edu	37	6	116949485	116949485	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:116949485G>C	ENST00000229554.5	+	3	1752	c.1615G>C	c.(1615-1617)Gaa>Caa	p.E539Q	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.E539Q	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	539	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGATCTAGTAGAATCCCTATC	0.423000									Kartagener syndrome				25	144					0	0	0.003330	0	0
NAV1	89796	broad.mit.edu	37	1	201750276	201750276	+	Missense_Mutation	SNP	G	G	A	rs143487790		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:201750276G>A	ENST00000367296.4	+	5	1922	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	NAV1_ENST00000295624.6_Missense_Mutation_p.R501Q|NAV1_ENST00000367302.1_Missense_Mutation_p.R514Q|NAV1_ENST00000367297.4_Missense_Mutation_p.R501Q|NAV1_ENST00000367295.1_Missense_Mutation_p.R110Q|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367300.3_Missense_Mutation_p.R501Q	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	501					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TCTAAGTGGCGGAGGGAGCGG	0.542000													31	69					0	0	0.001786	0	0
PKD1L2	114780	broad.mit.edu	37	16	81193337	81193337	+	RNA	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:81193337G>A	ENST00000525539.1	-	0	3785				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGGCTCCAGGTCAGACTCAG	0.592000													5	17					0	0	0.000602	0	0
C1QC	714	broad.mit.edu	37	1	22974125	22974125	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:22974125C>T	ENST00000374639.3	+	3	705	c.587C>T	c.(586-588)aCg>aTg	p.T196M	C1QC_ENST00000374637.1_Missense_Mutation_p.T196M|C1QC_ENST00000374640.4_Missense_Mutation_p.T196M	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	196	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGTGGCCACACGTCCAAAACC	0.597000													24	73					0	0	0.003330	0	0
XIRP2	129446	broad.mit.edu	37	2	168102128	168102128	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:168102128G>A	ENST00000409195.1	+	9	4315	c.4226G>A	c.(4225-4227)aGt>aAt	p.S1409N	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S1409N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S1187N	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1234					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATTATGCCCAGTATTGACCAT	0.343000													5	36					0	0	0.000602	0	0
GPR31	2853	broad.mit.edu	37	6	167570533	167570533	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:167570533T>C	ENST00000366834.1	-	1	1284	c.787A>G	c.(787-789)Acc>Gcc	p.T263A		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	263						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACATCCGAGGTATGAGCCACT	0.587000													32	43					0	0	0.002445	0	0
PPFIA2	8499	broad.mit.edu	37	12	81657084	81657084	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:81657084C>A	ENST00000550584.2	-	30	3936	c.3641G>T	c.(3640-3642)gGg>gTg	p.G1214V	PPFIA2_ENST00000333447.7_Missense_Mutation_p.G1202V|PPFIA2_ENST00000549396.1_Missense_Mutation_p.G1214V|PPFIA2_ENST00000548586.1_Missense_Mutation_p.G1208V|PPFIA2_ENST00000541017.1_Missense_Mutation_p.G400V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.G750V|PPFIA2_ENST00000552948.1_Missense_Mutation_p.G1193V|PPFIA2_ENST00000407050.4_Missense_Mutation_p.G1113V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.G1109V|PPFIA2_ENST00000549325.1_Missense_Mutation_p.G1199V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.G1061V	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1113										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TTCTGAGGACCCAGGCATCAT	0.453000													11	27					3.86212e-05	6.86387e-05	0.008291	1	0
AP5B1	91056	broad.mit.edu	37	11	65547195	65547195	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:65547195G>A	ENST00000532090.2	-	2	979	c.769C>T	c.(769-771)Cga>Tga	p.R257*		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	200	Leu-rich.						protein binding			lung(1)	1						CTGTGCTCTCGTGCTGTAAGG	0.667000													8	108					0	0	0.006214	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106888551	106888551	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:106888551C>G	ENST00000526355.1	-	1	699	c.231G>C	c.(229-231)agG>agC	p.R77S	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.R77S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.R77S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	77					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GCTGCACCCTCCTGGCCCcgg	0.806000													4	9					0	0	0.000248	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109596	64109596	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:64109596G>C	ENST00000356786.5	+	8	850	c.806G>C	c.(805-807)cGt>cCt	p.R269P	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	269					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCTGCGGCGTCTGCGGCAG	0.682000													11	25					0	0	0.000978	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20440744	20440744	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:20440744C>G	ENST00000375105.3	-	4	359	c.301G>C	c.(301-303)Gga>Cga	p.G101R		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	101					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACCAGCTTCCCTTGTCAGCT	0.557000										Multiple Myeloma(11;0.12)			13	37					0	0	0.001855	0	0
MBTPS1	8720	broad.mit.edu	37	16	84132678	84132678	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:84132678C>G	ENST00000343411.3	-	3	896	c.401G>C	c.(400-402)cGt>cCt	p.R134P		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	134					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTTGAGGGAACGAAAGACTTT	0.398000													18	71					0	0	0.006122	0	0
CLUH	23277	broad.mit.edu	37	17	2597272	2597272	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:2597272G>C	ENST00000570628.1	-	19	3141	c.3036C>G	c.(3034-3036)taC>taG	p.Y1012*	CLUH_ENST00000538975.1_Nonsense_Mutation_p.Y1012*|CLUH_ENST00000575014.1_Nonsense_Mutation_p.Y945*|CLUH_ENST00000435359.1_Nonsense_Mutation_p.Y1012*					clustered mitochondria (cluA/CLU1) homolog																		GCATGGCTCCGTAGACGTTGT	0.642000													9	29					0	0	0.006214	0	0
FAM83A	84985	broad.mit.edu	37	8	124204207	124204207	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr8:124204207C>T	ENST00000518448.1	+	3	2659	c.645C>T	c.(643-645)ctC>ctT	p.L215L	FAM83A_ENST00000318462.6_Silent_p.L215L|FAM83A_ENST00000276699.6_Silent_p.L215L|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Silent_p.L215L|FAM83A_ENST00000522648.1_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	215										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ACAGTCACCTCAAGGTAGGGG	0.488000													38	174					0	0	0.004289	0	0
SIK1	150094	broad.mit.edu	37	21	44839014	44839014	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr21:44839014T>A	ENST00000270162.6	-	11	1481	c.1349A>T	c.(1348-1350)cAg>cTg	p.Q450L		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	450					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						GCCCGGCCCCTGCCTGGCCTC	0.701000													5	6					0	0	0.000602	0	0
CCAR1	55749	broad.mit.edu	37	10	70546361	70546361	+	Missense_Mutation	SNP	A	A	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr10:70546361A>G	ENST00000265872.6	+	21	2911	c.2792A>G	c.(2791-2793)tAt>tGt	p.Y931C	CCAR1_ENST00000543719.1_Missense_Mutation_p.Y916C|CCAR1_ENST00000535016.1_Missense_Mutation_p.Y916C	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	931					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						GCTTTTGTTTATTTTGATCAA	0.313000													16	31					0	0	0.003163	0	0
MAPT	4137	broad.mit.edu	37	17	44060865	44060865	+	Missense_Mutation	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:44060865C>A	ENST00000344290.5	+	6	1017	c.695C>A	c.(694-696)tCc>tAc	p.S232Y	MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.S232Y|MAPT_ENST00000415613.2_Missense_Mutation_p.S232Y|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.S232Y|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000347967.5_Intron	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	232					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CCCCAAGACTCCCCTCCCTCC	0.692000													23	19					1.22574e-08	2.26825e-08	0.002299	1	0
SNX5	27131	broad.mit.edu	37	20	17932146	17932146	+	Missense_Mutation	SNP	T	T	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr20:17932146T>G	ENST00000377768.3	-	7	919	c.607A>C	c.(607-609)Aag>Cag	p.K203Q	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Missense_Mutation_p.K203Q	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	203	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCACTTACCTTAACTCCAGTA	0.363000													17	24					0	0	0.008871	0	0
RADIL	55698	broad.mit.edu	37	7	4839063	4839063	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:4839063C>T	ENST00000399583.3	-	15	3361	c.3174G>A	c.(3172-3174)gcG>gcA	p.A1058A	RADIL_ENST00000538469.1_Silent_p.A818A|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	1058	PDZ.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGTCGGACTTCGCGACCAGGA	0.647000													124	48					0	0	0.003610	0	0
ABI2	10152	broad.mit.edu	37	2	204291988	204291988	+	Missense_Mutation	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:204291988C>G	ENST00000295851.4	+	11	1751	c.1455C>G	c.(1453-1455)gaC>gaG	p.D485E	ABI2_ENST00000261017.5_Missense_Mutation_p.D447E|ABI2_ENST00000430418.1_Missense_Mutation_p.D430E|ABI2_ENST00000424558.1_Missense_Mutation_p.D479E|ABI2_ENST00000422511.2_Missense_Mutation_p.D452E|ABI2_ENST00000261018.7_Missense_Mutation_p.D271E|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261016.6_Missense_Mutation_p.D373E			Q9NYB9	ABI2_HUMAN	abl-interactor 2	485	SH3.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGAAGAATGACGATGGTTGGT	0.423000													17	29					0	0	0.004990	0	0
KDM1B	221656	broad.mit.edu	37	6	18208370	18208370	+	Missense_Mutation	SNP	G	G	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:18208370G>T	ENST00000388870.2	+	17	2043	c.1802G>T	c.(1801-1803)tGt>tTt	p.C601F	KDM1B_ENST00000397244.1_Missense_Mutation_p.C369F|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.C368F			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	600					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CAGGTGCAGTGTATTGATTAT	0.428000													12	60					0.000308642	0.000545825	0.003163	1	0
NUB1	51667	broad.mit.edu	37	7	151073852	151073852	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:151073852G>C	ENST00000568733.1	+	14	1762	c.1696G>C	c.(1696-1698)Gaa>Caa	p.E566Q	WDR86_ENST00000463000.1_5'UTR|NUB1_ENST00000413040.2_Missense_Mutation_p.E552Q|NUB1_ENST00000566856.1_Missense_Mutation_p.E528Q|NUB1_ENST00000355851.4_Missense_Mutation_p.E542Q			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	542	NEDD8-binding 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCTGTCGCCAGAAGACTCTTT	0.612000													2	7					0	0	0.000248	0	0
LRRC56	115399	broad.mit.edu	37	11	552187	552187	+	Missense_Mutation	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:552187T>A	ENST00000270115.7	+	12	1636	c.1136T>A	c.(1135-1137)tTc>tAc	p.F379Y		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	379										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCTCTGACTTCCTGGCCTTG	0.672000													17	56					0	0	0.004007	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603742	138603742	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:138603742C>T	ENST00000440172.1	-	2	678	c.630G>A	c.(628-630)tcG>tcA	p.S210S	KIAA1549_ENST00000242365.4_Silent_p.S160S|KIAA1549_ENST00000422774.1_Silent_p.S210S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	210						integral to membrane		p.S160S(1)|p.S210S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTGCCAGCCCGATGTCACTT	0.522000			O	BRAF	pilocytic astrocytoma								6	129					0	0	0.001168	0	0
NMT1	4836	broad.mit.edu	37	17	43180413	43180413	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:43180413C>T	ENST00000592782.1	+	10	1219	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M	NMT1_ENST00000258960.2_Missense_Mutation_p.T363M			P30419	NMT1_HUMAN	N-myristoyltransferase 1	363					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TTTCACCTTACGCCCGTCATG	0.547000													23	70					0	0	0.003954	0	0
OR9G4	283189	broad.mit.edu	37	11	56511135	56511135	+	Silent	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:56511135C>T	ENST00000302957.3	-	1	152	c.153G>A	c.(151-153)ttG>ttA	p.L51L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAAGGTTATCAAATAGAGCA	0.413000													15	48					0	0	0.002450	0	0
SLC25A3	5250	broad.mit.edu	37	12	98987826	98987826	+	Missense_Mutation	SNP	G	G	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:98987826G>C	ENST00000188376.5	+	1	424	c.70G>C	c.(70-72)Gat>Cat	p.D24H	SLC25A3_ENST00000551917.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000549338.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000548847.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000547534.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000552981.1_Missense_Mutation_p.D24H|SLC25A3_ENST00000401722.3_Missense_Mutation_p.D24H|SLC25A3_ENST00000228318.3_Missense_Mutation_p.D24H|SLC25A3_ENST00000551265.1_Missense_Mutation_p.D24H	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	24					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GCTGGTGCACGATGGTCTCGG	0.687000													9	22					0	0	0.004482	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575210	161575210	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr6:161575210G>A	ENST00000320285.4	-	4	693	c.481C>T	c.(481-483)Cac>Tac	p.H161Y	AGPAT4_ENST00000366906.5_Missense_Mutation_p.H99Y|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Missense_Mutation_p.A104V|AGPAT4_ENST00000366908.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	161					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCCCGGAGGTGCTGCAAACTG	0.567000													24	38					0	0	0.003330	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310254	57310254	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57310254C>T	ENST00000457912.1	+	2	193	c.193C>T	c.(193-195)Ccc>Tcc	p.P65S	SMTNL1_ENST00000527972.1_Missense_Mutation_p.P47S|SMTNL1_ENST00000399154.2_Missense_Mutation_p.P47S			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	47										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGAGGGGCCTCCCACTGAGTC	0.577000													10	17					0	0	0.008291	0	0
GABRB3	2562	broad.mit.edu	37	15	26828523	26828523	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:26828523C>T	ENST00000541819.2	-	6	770	c.668G>A	c.(667-669)aGa>aAa	p.R223K	GABRB3_ENST00000400188.3_Missense_Mutation_p.R96K|GABRB3_ENST00000545868.1_Missense_Mutation_p.R82K|GABRB3_ENST00000299267.4_Missense_Mutation_p.R167K|GABRB3_ENST00000311550.5_Missense_Mutation_p.R167K			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	167					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGGGGGTATCTCCTGAGGTC	0.453000													21	55					0	0	0.003330	0	0
C4orf21	55345	broad.mit.edu	37	4	113462064	113462064	+	Silent	SNP	T	T	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr4:113462064T>A	ENST00000505019.1	-	26	5948	c.5823A>T	c.(5821-5823)acA>acT	p.T1941T	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCAGCTTGAGTGTAAACGTAG	0.358000													5	5					0	0	0.000602	0	0
ATXN2	6311	broad.mit.edu	37	12	111993687	111993687	+	Splice_Site	SNP	C	C	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:111993687C>A	ENST00000377617.3	-	2	929	c.768_splice	c.e2+1	p.T256_splice	ATXN2_ENST00000549455.1_Intron|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000389153.4_5'UTR|ATXN2_ENST00000550104.1_Splice_Site_p.T256_splice|ATXN2_ENST00000542287.2_5'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	256					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						AGTTACTCACCGTAGACTGAG	0.328000													6	19					3.59834e-05	6.45901e-05	0.001168	1	0
LRP1B	53353	broad.mit.edu	37	2	141294273	141294273	+	Missense_Mutation	SNP	T	T	C			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:141294273T>C	ENST00000389484.3	-	46	8490	c.7519A>G	c.(7519-7521)Aat>Gat	p.N2507D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2507					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		CAGGAGGAATTTTTAGCTGCA	0.328000										TSP Lung(27;0.18)			5	33					0	0	0.000602	0	0
KNG1	3827	broad.mit.edu	37	3	186459996	186459996	+	Missense_Mutation	SNP	C	C	T			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:186459996C>T	ENST00000265023.4	+	10	2023	c.1811C>T	c.(1810-1812)tCa>tTa	p.S604L	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	604					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AACCCAATATCAGATTTTCCA	0.423000													32	114					0	0	0.002836	0	0
WWP2	11060	broad.mit.edu	37	16	69965757	69965757	+	Missense_Mutation	SNP	G	G	A			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr16:69965757G>A	ENST00000359154.2	+	16	1747	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	WWP2_ENST00000542271.1_Missense_Mutation_p.R433H|WWP2_ENST00000568684.1_Missense_Mutation_p.R110H|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.R549H|WWP2_ENST00000448661.1_Missense_Mutation_p.R549H	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	549	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCATCATGCGTGGCGAGGAG	0.622000													37	117					0	0	0.003755	0	0
SLC8B1	80024	broad.mit.edu	37	12	113744331	113744331	+	Silent	SNP	C	C	G			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:113744331C>G	ENST00000552014.1	-	15	1976	c.1461G>C	c.(1459-1461)gcG>gcC	p.A487A	SLC24A6_ENST00000202831.3_Silent_p.A487A|SLC24A6_ENST00000549069.1_Silent_p.A46A|SLC24A6_ENST00000550047.1_Silent_p.A2A|SLC24A6_ENST00000546737.1_Silent_p.A431A			Q6J4K2	NCKX6_HUMAN		487					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AGGCGGAGAACGCCATCCGTG	0.602000													3	38					0	0	0.004672	0	0
CELSR2	1952	broad.mit.edu	37	1	109793107	109793109	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr1:109793107_109793109delCCG	ENST00000271332.3	+	1	467_469	c.406_408delCCG	c.(406-408)del	p.P136del		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	136					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.P136Q(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGAGGAGCACCCGTGCTTAAAGG	0.660													32	61	---	---	---	---					
RP11-13J8.1	0	broad.mit.edu	37	2	201967217	201967218	+	RNA	DEL	AG	AG	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr2:201967217_201967218delAG	ENST00000448256.1	+	0	627_628																											aaaaaaaaaaagaaTTTGTTCT	0.460													2	4	---	---	---	---					
ERICH6-AS1	101928085	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													3	4	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82583946	82583946	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr7:82583946delG	ENST00000423517.2	-	5	6660	c.6323delC	c.(6322-6324)tafs	p.S2109fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.S2109fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2040					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGAACACTTGATGTCAAAGA	0.453													10	36	---	---	---	---					
OR1S1	219959	broad.mit.edu	37	11	57982857	57982864	+	Frame_Shift_Del	DEL	TTGTGGGT	TTGTGGGT	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr11:57982857_57982864delTTGTGGGT	ENST00000309433.6	+	1	641_648	c.641_648delTTGTGGGT	c.(640-648)afs	p.IVG214fs		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GTGTTGTTTATTGTGGGTTTATCAGTTA	0.438													21	106	---	---	---	---					
TMTC3	160418	broad.mit.edu	37	12	88560138	88560138	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr12:88560138delC	ENST00000266712.6	+	7	1049	c.829delC	c.(829-831)ctfs	p.P277fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	277						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AAGCCCAACTCCTACAAGGCA	0.348													17	50	---	---	---	---					
MIR7162	102466227	broad.mit.edu	37	15	62538522	62538523	+	RNA	INS	-	-	GA	rs3055695		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr15:62538522_62538523insGA	ENST00000570077.1	-	0	693_694																											GGGGGCTCCGGGTAGGGGTTCA	0.609													2	4	---	---	---	---					
TMEM95	339168	broad.mit.edu	37	17	7259577	7259578	+	Frame_Shift_Del	DEL	CG	CG	-	rs142054857		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:7259577_7259578delCG	ENST00000389982.4	+	5	473_474	c.391_392delCG	c.(391-393)afs	p.R131fs	TMEM95_ENST00000576060.1_Frame_Shift_Del_p.R131fs|TMEM95_ENST00000330767.4_Frame_Shift_Del_p.R139fs			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	131						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTGCTGGCCCCGAAAGCGCTGC	0.678											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	32	---	---	---	---					
MPP3	4356	broad.mit.edu	37	17	41898342	41898343	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr17:41898342_41898343insGC	ENST00000398393.1	-	9	1103_1104	c.843_844insGC	c.(841-846)cgggcafs	p.A282fs	MPP3_ENST00000398389.4_Frame_Shift_Ins_p.A257fs			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	257	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		AGGACCTGCCTGCGCTGGAAGG	0.683													7	18	---	---	---	---					
PMAIP1	5366	broad.mit.edu	37	18	57569886	57569889	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr18:57569886_57569889delAGTC	ENST00000316660.6	+	2	296_299	c.66_69delAGTC	c.(64-69)gafs	p.EV22fs	PMAIP1_ENST00000269518.9_Frame_Shift_Del_p.SR73fs	NM_021127.2	NP_066950.1	Q13794	APR_HUMAN	phorbol-12-myristate-13-acetate-induced protein 1	22					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to glucose starvation|cellular response to hypoxia|negative regulation of mitochondrial membrane potential|positive regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of glucose metabolic process|positive regulation of protein oligomerization|positive regulation of release of cytochrome c from mitochondria|proteasomal protein catabolic process|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability|response to dsRNA|signal transduction by p53 class mediator resulting in induction of apoptosis|T cell homeostasis|virus-infected cell apoptosis	cytosol|mitochondrial outer membrane|nucleus	protein binding			breast(1)	1		Colorectal(73;0.0946)				CAGAGCTGGAAGTCGAGTGTGCTA	0.431													12	36	---	---	---	---					
ANKRD20A18P	391269	broad.mit.edu	37	21	15436915	15436915	+	RNA	DEL	G	G	-			TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chr21:15436915delG	ENST00000428809.1	+	0	177																											CCCCTGGGACGGGGGCCTTGG	0.687													4	4	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-HD-7229-01A-11D-2012-08	TCGA-HD-7229-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	26b27991-540f-47f4-95f3-a59a493da593	f1ae29b8-ef4f-4f37-a959-31331e77e66c	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	5	---	---	---	---