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
RPS6KA1	6195	broad.mit.edu	37	1	26885365	26885365	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:26885365C>T	uc001bmr.1	+	13	1315	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	RPS6KA1_uc010ofe.1_Silent_p.T292T|RPS6KA1_uc010off.1_Silent_p.T368T|RPS6KA1_uc001bms.1_Silent_p.T393T|RPS6KA1_uc009vsl.1_Silent_p.T227T	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	384	AGC-kinase C-terminal.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCGTGGCCACCGGCCTGATGG	0.647												
MACF1	23499	broad.mit.edu	37	1	39549978	39549978	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:39549978C>T	uc010oir.2	+	1	267	c.75C>T	c.(73-75)agC>agT	p.S25S	MACF1_uc021ols.1_Missense_Mutation_p.R30W|MACF1_uc001cdc.2_Missense_Mutation_p.R30W|MACF1_uc021olt.1_Missense_Mutation_p.R30W			Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	0	Actin-binding.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.I25V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGAGCGAGCGGTCGGGGAG	0.612												
MAB21L3	126868	broad.mit.edu	37	1	116666899	116666899	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:116666899C>T	uc001egc.1	+	3	667	c.402C>T	c.(400-402)gaC>gaT	p.D134D		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	134										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						TGAACATCGACGGAGACATTG	0.552												
PDE4DIP	9659	broad.mit.edu	37	1	144873981	144873981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:144873981G>T	uc021ouh.1	-	30	5278	c.4976C>A	c.(4975-4977)tCa>tAa	p.S1659*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.S1659*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.S1615*|PDE4DIP_uc001elv.4_Nonsense_Mutation_p.S666*	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1659					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTGGTTGATGATGGTTTAGA	0.473			T	PDGFRB	MPD							
MTMR11	10903	broad.mit.edu	37	1	149901596	149901596	+	Silent	SNP	T	T	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:149901596T>C	uc001etl.4	-	15	2111	c.1860A>G	c.(1858-1860)ccA>ccG	p.P620P	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Silent_p.P548P	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	620	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGCAGCCCTGGAGGTAAAG	0.587												
NTRK1	4914	broad.mit.edu	37	1	156836717	156836717	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:156836717C>T	uc001fqh.1	+	3	431	c.375C>T	c.(373-375)aaC>aaT	p.N125N	NTRK1_uc001fqf.1_Silent_p.N95N|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.N125N|NTRK1_uc009wsk.1_Silent_p.N125N	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	125					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCTCCTTCAACGCTCTGGAGT	0.587			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)		
FCRL2	79368	broad.mit.edu	37	1	157739709	157739709	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:157739709G>A	uc001fre.2	-	3	601	c.542C>T	c.(541-543)aCg>aTg	p.T181M	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.T181M|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.T181M	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	181	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTGAGTCACCGTTTCTGCCTT	0.527												
FCAMR	83953	broad.mit.edu	37	1	207135779	207135779	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:207135779C>T	uc001hfa.4	-	4	931	c.431G>A	c.(430-432)cGt>cAt	p.R144H	FCAMR_uc001hfb.3_Missense_Mutation_p.R144H|FCAMR_uc009xca.2_Missense_Mutation_p.R144H|FCAMR_uc021pig.1_Missense_Mutation_p.R59H	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	99	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGGCCCCAGACGGCACCAGTA	0.582												
PCNXL2	80003	broad.mit.edu	37	1	233231513	233231513	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:233231513A>G	uc001hvl.2	-	21	4169	c.3934T>C	c.(3934-3936)Ttt>Ctt	p.F1312L	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1312						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAATGGCAAAGAGCTGAGCA	0.473												
C1orf100	200159	broad.mit.edu	37	1	244528021	244528021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:244528021C>T	uc001iah.3	+	1	132	c.19C>T	c.(19-21)Cga>Tga	p.R7*	C1orf100_uc001iai.3_Nonsense_Mutation_p.R7*	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	Homo sapiens chromosome 1 open reading frame 100 (C1orf100), mRNA.	7										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			CATCCGACTACGAGAATTTAT	0.468												
OR2T10	127069	broad.mit.edu	37	1	248756435	248756435	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:248756435G>A	uc010pzn.2	-	0	635	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAAATGACCGTCACAGGTAT	0.458												
OR52K1	390036	broad.mit.edu	37	11	4511035	4511035	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:4511035G>A	uc001lza.2	+	0	927	c.905G>A	c.(904-906)cGt>cAt	p.R302H		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGCAGATTCGTGAGTATGTG	0.433												
OR51F1	256892	broad.mit.edu	37	11	4790947	4790947	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:4790947C>A	uc010qyl.2	-	0	201	c.201G>T	c.(199-201)agG>agT	p.R67S		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	67						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGCTGATAGCCTGAAGAGGA	0.443												
RBMXL2	27288	broad.mit.edu	37	11	7111041	7111041	+	Silent	SNP	T	T	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:7111041T>G	uc001mfc.2	+	0	877	c.690T>G	c.(688-690)ggT>ggG	p.G230G		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	230	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.R229Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACCCCGGGGTTTTGCCCCCT	0.692												
PLEKHA7	144100	broad.mit.edu	37	11	16838834	16838834	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:16838834G>A	uc010rcu.1	-	10	1394	c.1379C>T	c.(1378-1380)cCt>cTt	p.P460L	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P460L|PLEKHA7_uc010rcv.2_Missense_Mutation_p.P34L|PLEKHA7_uc001mmn.3_Missense_Mutation_p.P168L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	460					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.G459S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGATTGGCCAGGACCCTGGCG	0.602												
CD44	960	broad.mit.edu	37	11	35227763	35227763	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:35227763C>T	uc001mvu.3	+	10	1821	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Nonsense_Mutation_p.R420*|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Nonsense_Mutation_p.R27*|CD44_uc010ret.2_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	463	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CCCCATGGGACGAGGTCATCA	0.443												
OR4C16	219428	broad.mit.edu	37	11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:55339695G>A	uc010rih.2	+	0	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R31H(4)|p.R31L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368												
FOLR1	2348	broad.mit.edu	37	11	71906672	71906672	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:71906672G>A	uc001orz.2	+	4	650	c.374G>A	c.(373-375)cGc>cAc	p.R125H	FOLR1_uc001osa.2_Missense_Mutation_p.R125H|FOLR1_uc001osb.2_Missense_Mutation_p.R125H|FOLR1_uc001osd.2_Missense_Mutation_p.R125H	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	125					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	p.R125C(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CAGAGCTGGCGCAAAGAGCGG	0.537												
TAS2R46	259292	broad.mit.edu	37	12	11214816	11214816	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:11214816G>A	uc001qzp.1	-	0	78	c.78C>T	c.(76-78)ttC>ttT	p.F26F	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176887	NP_795368	P59540	T2R46_HUMAN	Homo sapiens taste receptor, type 2, member 46 (TAS2R46), mRNA.	26					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCAATGCTATGAAGCCATTAG	0.363												
PIK3C2G	5288	broad.mit.edu	37	12	18576934	18576934	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:18576934G>A	uc001rdt.3	+	16	2458	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R822H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R600H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	781					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R781H(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTACTCCACCGCTCCTTGCAG	0.428												
ABCD2	225	broad.mit.edu	37	12	40012537	40012538	+	Frame_Shift_Ins	INS	-	-	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:40012537_40012538insA	uc001rmb.2	-	0	1306_1307	c.880_881insT	c.(880-882)tatfs	p.Y294fs		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	294	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CGAGTGCACATACCGCAAATAG	0.406												
AMDHD1	144193	broad.mit.edu	37	12	96354263	96354263	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:96354263C>T	uc001tel.2	+	4	781	c.675C>T	c.(673-675)caC>caT	p.H225H	AMDHD1_uc009zth.2_Silent_p.H116H	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	225					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GGGAAATACACGTGGACAATA	0.413												
DAO	1610	broad.mit.edu	37	12	109293195	109293195	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:109293195C>T	uc001tnr.4	+	9	1527	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	DAO_uc001tnq.4_Missense_Mutation_p.R220C|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	286					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	p.R286H(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CCGGCCAGTACGCCCCCAGAT	0.468												
NOS1	4842	broad.mit.edu	37	12	117768667	117768667	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:117768667G>A	uc001twn.2	-	1	919	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	NOS1_uc001twm.2_Missense_Mutation_p.R70W	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	70	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R70Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACCAAGGGCCGGCCGTTGACC	0.612												
OR4N5	390437	broad.mit.edu	37	14	20612259	20612259	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:20612259G>A	uc010tla.2	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCCTTTGACCGCTACATCGCC	0.478												
MYH6	4624	broad.mit.edu	37	14	23855760	23855760	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:23855760C>T	uc001wjv.3	-	32	4794	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1575					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTTCCGCTCGATCTCTGCC	0.647												
ATL1	51062	broad.mit.edu	37	14	51080061	51080061	+	Missense_Mutation	SNP	C	C	T	rs119476046		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:51080061C>T	uc021rsw.1	+	6	956	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	ATL1_uc001wyd.4_Missense_Mutation_p.R239C|ATL1_uc001wyf.4_Missense_Mutation_p.R239C|ATL1_uc001wye.4_Missense_Mutation_p.R239C|ATL1_uc021rsx.1_Missense_Mutation_p.R239C	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	239			R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology).		axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CTTGGAAAAACGCCTCAAGGT	0.353												
CLMN	79789	broad.mit.edu	37	14	95677055	95677055	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:95677055G>A	uc001yef.2	-	6	886	c.770C>T	c.(769-771)gCc>gTc	p.A257V		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	257	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GATGTGCAGGGCATCCTGTGC	0.483												
RYR3	6263	broad.mit.edu	37	15	33895522	33895522	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr15:33895522C>T	uc001zhi.3	+	17	2191	c.2121C>T	c.(2119-2121)gaC>gaT	p.D707D	RYR3_uc010bar.3_Silent_p.D707D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	707	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D707D(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGTTGGTGACGACCTGTACT	0.537												
PLCB2	5330	broad.mit.edu	37	15	40583828	40583828	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr15:40583828C>T	uc001zld.3	-	24	2927	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.E872K|PLCB2_uc010ucm.2_Intron	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	876					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCATAGCCTCTTCCCTGGCC	0.706												
RBFOX1	54715	broad.mit.edu	37	16	7726795	7726795	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:7726795G>A	uc002cys.2	+	13	1938	c.950G>A	c.(949-951)cGc>cAc	p.R317H	RBFOX1_uc002cyt.2_Missense_Mutation_p.R290H|RBFOX1_uc010uxz.1_Missense_Mutation_p.R360H|RBFOX1_uc010uya.1_Missense_Mutation_p.R274H|RBFOX1_uc010uyb.1_Missense_Mutation_p.R317H|RBFOX1_uc002cyw.2_Missense_Mutation_p.R338H|RBFOX1_uc002cyy.2_Missense_Mutation_p.R338H|RBFOX1_uc002cyx.2_Missense_Mutation_p.R338H|RBFOX1_uc010uyc.1_Missense_Mutation_p.R311H	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	317					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCTGCATACCGCTACGCCCAG	0.517												
ACSM3	6296	broad.mit.edu	37	16	20787173	20787173	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:20787173C>A	uc010vba.2	+	1	283	c.208C>A	c.(208-210)Cct>Act	p.P70T	ACSM3_uc002dhq.3_Missense_Mutation_p.P78T|ACSM3_uc002dhr.3_Missense_Mutation_p.P78T	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	78					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGAAAGAAACCTTCAAATCC	0.403												
ITGAM	3684	broad.mit.edu	37	16	31338227	31338227	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:31338227C>A	uc002ebr.3	+	21	2780	c.2682C>A	c.(2680-2682)aaC>aaA	p.N894K	ITGAM_uc002ebq.3_Missense_Mutation_p.N893K|ITGAM_uc010can.3_Missense_Mutation_p.N299K|ITGAM_uc002ebs.1_Missense_Mutation_p.N299K	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	893					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCCTTGGAAACAAACTGCTCC	0.512												
RRAD	6236	broad.mit.edu	37	16	66957764	66957764	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:66957764G>A	uc002eqn.2	-	2	581	c.429C>T	c.(427-429)taC>taT	p.Y143Y	RRAD_uc002eqo.2_Silent_p.Y143Y	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	143					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CCCAAATGTCGTAGACCATGA	0.582												
CHST5	23563	broad.mit.edu	37	16	75564091	75564091	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:75564091G>A	uc002fej.1	-	4	531	c.210C>T	c.(208-210)caC>caT	p.H70H	CHST5_uc002fei.3_Silent_p.H64H|CHST5_uc021tlk.1_Silent_p.H64H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	64					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCACCAGCACGTGCACACGAT	0.657												
KIF2B	84643	broad.mit.edu	37	17	51900728	51900728	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr17:51900728G>A	uc002iua.2	+	0	490	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	112			A -> V (in dbSNP:rs3803824).		blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGCGTACCGCCACGAAATG	0.602												
UTS2R	2837	broad.mit.edu	37	17	80332605	80332605	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr17:80332605C>T	uc010wvl.2	+	0	405	c.405C>T	c.(403-405)caC>caT	p.H135H		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	135						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGACCATGCACGCCAGCATCT	0.662												
POTEC	388468	broad.mit.edu	37	18	14537857	14537857	+	Silent	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:14537857A>G	uc010dln.3	-	2	1207	c.753T>C	c.(751-753)gaT>gaC	p.D251D	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	251										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATTAATTTATCTTCATTGT	0.343												
CDH20	28316	broad.mit.edu	37	18	59158011	59158011	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:59158011C>T	uc010dps.1	+	0	377	c.225C>T	c.(223-225)acC>acT	p.T75T	CDH20_uc002lif.2_Silent_p.T69T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	75	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACACTGGGACCGACCCTTTGT	0.448												
FBXO15	201456	broad.mit.edu	37	18	71790685	71790685	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:71790685G>A	uc002llf.2	-	7	1136	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	FBXO15_uc002lle.2_Silent_p.H276H	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	276								p.V352I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTTGGTAGCCGTGCAGTCCAT	0.443												
RFX2	5990	broad.mit.edu	37	19	5997146	5997146	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:5997146G>A	uc002meb.3	-	15	2207	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	RFX2_uc002mec.3_Silent_p.D621D	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACATGTACTCGTCGTAGAGCA	0.662												
PRKCSH	5589	broad.mit.edu	37	19	11559740	11559740	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:11559740G>A	uc010xlz.2	+	14	1634	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H	PRKCSH_uc002mrt.3_Missense_Mutation_p.R426H|PRKCSH_uc002mru.3_Missense_Mutation_p.R423H|PRKCSH_uc010dyb.3_Missense_Mutation_p.R423H	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	426	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TACGTCTACCGCCTCTGCCCC	0.647												
ZNF491	126069	broad.mit.edu	37	19	11917007	11917007	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:11917007G>A	uc002mso.1	+	2	524	c.239G>A	c.(238-240)cGt>cAt	p.R80H	ZNF491_uc021upj.1_Missense_Mutation_p.R80H	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CATAAACAACGTAGGAAAGCC	0.378												
HSH2D	84941	broad.mit.edu	37	19	16259656	16259656	+	Silent	SNP	C	C	T	rs77723805		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:16259656C>T	uc002ndp.4	+	3	627	c.96C>T	c.(94-96)ccC>ccT	p.P32P	HSH2D_uc002ndr.3_5'UTR|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	32						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						ACGGGGTCCCCGAGTGGTTCC	0.637												
LYPD4	147719	broad.mit.edu	37	19	42341249	42341249	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:42341249C>T	uc002orp.1	-	4	1693	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	LYPD4_uc002orq.1_Missense_Mutation_p.V202I	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	237						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AGGCCTAAGACGACACCCCAA	0.483												
PSG7	5676	broad.mit.edu	37	19	43430081	43430081	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:43430081G>C	uc002ovl.4	-	5	1186	c.1084C>G	c.(1084-1086)Cag>Gag	p.Q362E	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.Q241E	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	363	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				CAAGAATACTGTGCCGGTGGG	0.458												
LILRB1	10859	broad.mit.edu	37	19	55143564	55143564	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:55143564C>T	uc002qgj.3	+	5	877	c.537C>T	c.(535-537)cgC>cgT	p.R179R	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.R179R|LILRB1_uc002qgk.3_Silent_p.R179R|LILRB1_uc002qgm.3_Silent_p.R179R|LILRB1_uc010erq.3_Silent_p.R179R|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	179	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGTCGTCCCGCGCCATCTTCT	0.577										HNSCC(37;0.09)		
ABCG8	64241	broad.mit.edu	37	2	44078770	44078770	+	Missense_Mutation	SNP	G	G	A	rs143276716		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:44078770G>A	uc002rtq.3	+	3	460	c.370G>A	c.(370-372)Ggc>Agc	p.G124S	ABCG8_uc010yoa.2_Missense_Mutation_p.G124S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	124	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCGAGGTCACGGCGGCAAGAT	0.617												
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:107049681T>C	uc010ywi.1	-	15	2323	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	756					intracellular transport		binding	p.N756D(9)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373												
CFC1B	653275	broad.mit.edu	37	2	131356244	131356244	+	Missense_Mutation	SNP	G	G	A	rs139623987		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:131356244G>A	uc002tro.1	-	2	609	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_001079530	NP_115934	P0CG36	CFC1B_HUMAN	Homo sapiens cripto, FRL-1, cryptic family 1B (CFC1B), mRNA.	73					gastrulation	extracellular region						Colorectal(110;0.1)					GTAGGGGAGCGGCTCCTCCGG	0.622												
TTN	7273	broad.mit.edu	37	2	179497473	179497473	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:179497473G>A	uc021vsy.1	-	183	35781	c.35556C>T	c.(35554-35556)ttC>ttT	p.F11852F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F5547F|TTN_uc021vta.1_Silent_p.F5480F|TTN_uc021vtb.1_Silent_p.F5355F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12779	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTTCTCGAAGACTTTAA	0.428												
ITGA4	3676	broad.mit.edu	37	2	182358131	182358131	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:182358131G>A	uc002unu.3	+	10	1996	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	411					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATGGGATCTCGTCAACCTTCT	0.368												
SERPINE2	5270	broad.mit.edu	37	2	224866465	224866465	+	Silent	SNP	G	G	A	rs3795875		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:224866465G>A	uc010zlr.1	-	1	326	c.189C>T	c.(187-189)atC>atT	p.I63I	SERPINE2_uc002vnu.2_Silent_p.I51I|SERPINE2_uc002vnv.2_Silent_p.I51I	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	51					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGATCACGATGTTGTCAT	0.567												
B3GNT7	93010	broad.mit.edu	37	2	232262645	232262645	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:232262645C>T	uc002vrs.3	+	1	395	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	72					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCTGCGCCCACGCCCATGGCC	0.617												
SLC52A3	113278	broad.mit.edu	37	20	744504	744504	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:744504C>T	uc002wed.4	-	2	1050	c.711G>A	c.(709-711)gcG>gcA	p.A237A	SLC52A3_uc002wee.2_Silent_p.A237A	NM_033409	NP_212134	Q9NQ40	RFT2_HUMAN	Homo sapiens chromosome 20 open reading frame 54 (C20orf54), mRNA.	237					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GGACAAAGAACGCCACGAGGC	0.617												
C20orf152	140894	broad.mit.edu	37	20	34571988	34571988	+	Silent	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:34571988C>A	uc002xer.1	+	4	648	c.492C>A	c.(490-492)acC>acA	p.T164T	C20orf152_uc002xes.1_Silent_p.T164T|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	164										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					TTGCAATAACCAAGGACGAGG	0.532												
KCNG1	3755	broad.mit.edu	37	20	49620775	49620775	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:49620775C>T	uc002xwa.4	-	2	1638	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	448						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G448D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GAGCAGGATGCCGCTCAGGAT	0.622												
LAMA5	3911	broad.mit.edu	37	20	60887326	60887326	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:60887326G>A	uc002ycq.3	-	68	9474	c.9407C>T	c.(9406-9408)gCg>gTg	p.A3136V	LAMA5_uc021wfw.1_Missense_Mutation_p.A3136V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3136	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCGAGAGCGCCAGGCGAAG	0.682												
LRRC3	81543	broad.mit.edu	37	21	45877207	45877207	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr21:45877207G>A	uc021wjs.1	+	0	680	c.680G>A	c.(679-681)cGc>cAc	p.R227H	LRRC3_uc002zfa.3_Missense_Mutation_p.R227H	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	227						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TACTATGTGCGCCACAACCAG	0.662												
KRTAP10-10	353333	broad.mit.edu	37	21	46057875	46057875	+	Missense_Mutation	SNP	G	G	A	rs147625145	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr21:46057875G>A	uc002zfq.3	+	0	603	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	181	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGCTGCACCGCCTCCTGCTG	0.642												
SGSM1	129049	broad.mit.edu	37	22	25263061	25263061	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:25263061G>A	uc003abg.2	+	10	1084	c.927_splice	c.e10-1	p.S309_splice	SGSM1_uc010guu.1_Splice_Site_p.S309_splice|SGSM1_uc003abh.2_Splice_Site_p.S309_splice|SGSM1_uc003abj.2_Splice_Site_p.S309_splice|SGSM1_uc003abi.1_Splice_Site_p.S284_splice	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	309	Required for interaction with RAP family members.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCTTCCAGCGTCTACTGGGA	0.617												
SYN3	8224	broad.mit.edu	37	22	32924868	32924868	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:32924868C>T	uc003amx.3	-	9	1385	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	SYN3_uc003amy.3_Missense_Mutation_p.R408K|SYN3_uc003amz.3_Missense_Mutation_p.R407K|SYN3_uc011amc.1_Missense_Mutation_p.R42K	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	408	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TACCCAAGGTCTGAGGGGGGA	0.572											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
CELSR1	9620	broad.mit.edu	37	22	46860064	46860064	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:46860064G>A	uc003bhw.1	-	1	3723	c.3723C>T	c.(3721-3723)gaC>gaT	p.D1241D		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1241					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGACGAAGACGTCGTCCTTGG	0.642												
SCN5A	6331	broad.mit.edu	37	3	38592883	38592883	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38592883G>A	uc021wvo.1	-	26	5032	c.4980C>T	c.(4978-4980)atC>atT	p.I1660I	SCN5A_uc021wvk.1_Silent_p.I1627I|SCN5A_uc021wvl.1_Silent_p.I1606I|SCN5A_uc021wvm.1_Silent_p.I1642I|SCN5A_uc021wvn.1_Silent_p.I1659I|SCN5A_uc021wvp.1_Silent_p.I1660I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1472I|SCN5A_uc021wvi.1_Silent_p.I1526I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1660			I -> V (in BRS1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.I1660I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAGCAGCCCGATGTTGAAGA	0.567												
SCN10A	6336	broad.mit.edu	37	3	38765036	38765036	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38765036G>A	uc003ciq.3	-	17	3237	c.3237C>T	c.(3235-3237)gaC>gaT	p.D1079D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1079					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCTTGTGTCGTCCACTCCCT	0.597												
SCN10A	6336	broad.mit.edu	37	3	38770224	38770224	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38770224G>A	uc003ciq.3	-	14	2449	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	817					sensory perception	voltage-gated sodium channel complex		p.R817*(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATATTTTTTCGGTTGTTACGG	0.532												
EPHA6	285220	broad.mit.edu	37	3	96706525	96706525	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:96706525C>T	uc010how.1	+	2	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443												
TMPRSS7	344805	broad.mit.edu	37	3	111782428	111782428	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:111782428C>T	uc010hqb.2	+	9	1296	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	TMPRSS7_uc011bhr.1_Missense_Mutation_p.R231C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	502	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCAGGCCCAGCGTTGTGATGG	0.383												
POLQ	10721	broad.mit.edu	37	3	121212455	121212455	+	Silent	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:121212455G>T	uc003eee.4	-	14	2521	c.2392C>A	c.(2392-2394)Cgg>Agg	p.R798R	POLQ_uc003eed.3_5'Flank	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	798					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGATACCCGAACCAGGTCA	0.488								DNA polymerases (catalytic subunits)				
AGTR1	185	broad.mit.edu	37	3	148459240	148459240	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:148459240C>T	uc003ewg.3	+	3	864	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	AGTR1_uc003ewh.3_Missense_Mutation_p.R140C|AGTR1_uc003ewi.3_Missense_Mutation_p.R140C|AGTR1_uc003ewj.3_Missense_Mutation_p.R140C|AGTR1_uc003ewk.3_Missense_Mutation_p.R140C|AGTR1_uc021xfj.1_Missense_Mutation_p.R140C	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	140					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.R140C(2)|p.R140H(1)|p.R139*(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCGCCTTCGACGCACAATGCT	0.473												
RTP2	344892	broad.mit.edu	37	3	187416724	187416724	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:187416724G>A	uc003fro.1	-	1	669	c.240C>T	c.(238-240)cgC>cgT	p.R80R		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	80					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCCGCTGGGCGCGGTCCAGGA	0.657												
TLR6	10333	broad.mit.edu	37	4	38830432	38830432	+	Frame_Shift_Del	DEL	C	C	-	rs146892714		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr4:38830432delC	uc010ifg.2	-	1	784	c.663delG	c.(661-663)gggfs	p.G221fs	TLR6_uc003gtm.3_Frame_Shift_Del_p.G221fs	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	221					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTGTAAGCACCCTAAAGTAT	0.323												
TMEM156	80008	broad.mit.edu	37	4	39000377	39000377	+	Missense_Mutation	SNP	G	G	A	rs13118782		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr4:39000377G>A	uc003gto.3	-	1	349	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	TMEM156_uc010ifj.3_Missense_Mutation_p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	81						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGAAGTTACGAAAATTGGAG	0.368												
RAI14	26064	broad.mit.edu	37	5	34823835	34823835	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:34823835A>G	uc003jis.3	+	16	2436	c.1897A>G	c.(1897-1899)Atg>Gtg	p.M633V	RAI14_uc003jir.3_Missense_Mutation_p.M630V|RAI14_uc010iur.3_Missense_Mutation_p.M601V|RAI14_uc011coj.2_Missense_Mutation_p.M630V|RAI14_uc003jit.3_Missense_Mutation_p.M630V|RAI14_uc011cok.2_Missense_Mutation_p.M622V	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	630						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGCTGAGGACATGAAAGAAGC	0.418												
UGT3A2	167127	broad.mit.edu	37	5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:36035966G>A	uc003jjz.2	-	6	1538	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_uc011cos.2_Missense_Mutation_p.T435M|UGT3A2_uc011cot.2_Missense_Mutation_p.T167M	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	469						integral to membrane	glucuronosyltransferase activity	p.A468T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGGTGCGTCGCGCCCCC	0.627												
HEATR7B2	133558	broad.mit.edu	37	5	41067251	41067251	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:41067251G>A	uc003jmj.4	-	2	650	c.160C>T	c.(160-162)Cga>Tga	p.R54*	HEATR7B2_uc021xxt.1_Nonsense_Mutation_p.R54*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	54							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TAAATCAATCGTTGGACAATT	0.373												
SLC27A6	28965	broad.mit.edu	37	5	128302221	128302221	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:128302221G>A	uc003kuy.3	+	1	787	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	SLC27A6_uc003kuz.3_Missense_Mutation_p.V131M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	131					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCTGGGCTGCGTGGTGGCCTT	0.592												
ABLIM3	22885	broad.mit.edu	37	5	148637854	148637854	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:148637854C>T	uc003lpy.2	+	24	2190	c.1939_splice	c.e24-1	p.R647_splice	ABLIM3_uc003lpz.1_Splice_Site_p.R647_splice|ABLIM3_uc003lqa.1_Splice_Site_p.R544_splice|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Splice_Site_p.R614_splice|ABLIM3_uc003lqd.1_Splice_Site_p.R552_splice|ABLIM3_uc003lqe.1_Splice_Site_p.R536_splice|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	647	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTTCAGCGCCACCTGTC	0.582												
DOCK2	1794	broad.mit.edu	37	5	169108785	169108785	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:169108785G>A	uc003maf.3	+	6	588	c.508G>A	c.(508-510)Gga>Aga	p.G170R	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	170					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.G170R(6)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGAAGACGGAAATATCTT	0.413												
RRP36	88745	broad.mit.edu	37	6	42993026	42993026	+	Silent	SNP	C	C	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:42993026C>A	uc003otp.1	+	2	312	c.304C>A	c.(304-306)Cga>Aga	p.R102R		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	102					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.I101M(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						AGCCAAGATCCGAGTACCATT	0.493												
PKHD1	5314	broad.mit.edu	37	6	51947198	51947198	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:51947198G>A	uc003pah.1	-	3	549	c.273C>T	c.(271-273)tgC>tgT	p.C91C	PKHD1_uc003pai.3_Silent_p.C91C	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	91	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.C91C(3)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACCTGGTCCGGCATGTCACCA	0.478												
HCRTR2	3062	broad.mit.edu	37	6	55120034	55120034	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:55120034G>A	uc003pcl.3	+	2	818	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R103Q	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	168					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R168W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGCAAAGCGGGCCCGTAAC	0.517												
COL19A1	1310	broad.mit.edu	37	6	70840111	70840111	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:70840111A>G	uc003pfc.1	+	17	1496	c.1379A>G	c.(1378-1380)gAc>gGc	p.D460G	COL19A1_uc010kam.2_Missense_Mutation_p.D356G	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	460	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGAAAGGAGACAAGGTAATC	0.403												
ZNF292	23036	broad.mit.edu	37	6	87967291	87967291	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:87967291G>C	uc003plm.4	+	7	3985	c.3944G>C	c.(3943-3945)gGt>gCt	p.G1315A		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGGGTAATGGTGAAAATGCA	0.383												
IQCE	23288	broad.mit.edu	37	7	2611946	2611946	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:2611946G>A	uc003sml.1	+	4	564	c.380G>A	c.(379-381)cGc>cAc	p.R127H	IQCE_uc010ksm.1_Missense_Mutation_p.R127H|IQCE_uc011jvy.1_Missense_Mutation_p.R111H|IQCE_uc011jvz.1_Missense_Mutation_p.R62H|IQCE_uc003smo.4_Missense_Mutation_p.R127H|IQCE_uc003smk.4_Missense_Mutation_p.R111H|IQCE_uc003smn.4_Missense_Mutation_p.R62H	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	127										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		CATCTCAGGCGCTCTGCCAGC	0.617												
OGDH	4967	broad.mit.edu	37	7	44736643	44736643	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:44736643C>T	uc003tln.3	+	14	2190	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	OGDH_uc011kbx.2_Silent_p.D673D|OGDH_uc011kby.2_Silent_p.D527D|OGDH_uc003tlp.3_Silent_p.D688D|OGDH_uc011kbz.2_Silent_p.D472D|OGDH_uc003tlo.1_Silent_p.D510D	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	677					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCGGCCAGGACGTGGAGCGGG	0.552												
EGFR	1956	broad.mit.edu	37	7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:55233037C>T	uc003tqk.3	+	14	2033	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(7)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
ZNF716	441234	broad.mit.edu	37	7	57529294	57529294	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:57529294G>T	uc011kdi.1	+	3	1239	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATTCATACTGGAGAGAAACCC	0.413												
GTF2IRD2	84163	broad.mit.edu	37	7	74234528	74234528	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:74234528C>T	uc003ubd.1	-	6	781	c.597G>A	c.(595-597)gcG>gcA	p.A199A	GTF2IRD2_uc011kfi.2_Silent_p.A199A|GTF2IRD2_uc003ube.1_5'Flank|GTF2IRD2_uc003ubf.1_Silent_p.A199A	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						TGGATCTCTCCGCATCTGTTA	0.443												
PCLO	27445	broad.mit.edu	37	7	82763627	82763627	+	Frame_Shift_Del	DEL	G	G	-			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:82763627delG	uc003uhx.2	-	2	3528	c.3239delC	c.(3238-3240)actfs	p.T1080fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.T1080fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1026					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						CTTGCATTCAGTGCAAGTATT	0.353												
SLC12A9	56996	broad.mit.edu	37	7	100459452	100459452	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:100459452G>C	uc003uwp.3	+	11	1772	c.1630G>C	c.(1630-1632)Gcc>Ccc	p.A544P	SLC12A9_uc003uwq.3_Missense_Mutation_p.A455P|SLC12A9_uc011kki.2_Missense_Mutation_p.A75P|SLC12A9_uc003uwr.3_Missense_Mutation_p.A280P|SLC12A9_uc003uws.3_Missense_Mutation_p.A75P|SLC12A9_uc003uwt.3_Missense_Mutation_p.A280P|SLC12A9_uc003uwv.3_Missense_Mutation_p.A75P	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	544						integral to membrane|plasma membrane	cation:chloride symporter activity	p.A544P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCCCGGGGCGCCCTGCCTCT	0.657												
PTN	5764	broad.mit.edu	37	7	136938378	136938378	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:136938378T>A	uc003vtq.2	-	2	485	c.122A>T	c.(121-123)aAa>aTa	p.K41I		NM_002825	NP_002816	P21246	PTN_HUMAN	Homo sapiens pleiotrophin (PTN), mRNA.	41					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.K40I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTTCTTCACTTTTTTTTCTGA	0.473												
ATP6V0A4	50617	broad.mit.edu	37	7	138440463	138440463	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:138440463C>T	uc003vuf.3	-	8	1025	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	ATP6V0A4_uc003vug.3_Missense_Mutation_p.V263I|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.V263I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	263					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCACATTGACGCTCTCCAAC	0.522												
DLGAP2	9228	broad.mit.edu	37	8	1497705	1497705	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:1497705C>T	uc003wpl.3	+	1	943	c.846C>T	c.(844-846)gaC>gaT	p.D282D	DLGAP2_uc003wpm.3_Silent_p.D282D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	361					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGACGCCCGACGCCAAGTACC	0.647												
KCNV1	27012	broad.mit.edu	37	8	110984522	110984522	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:110984522G>T	uc003ynr.4	-	1	1760	c.956C>A	c.(955-957)gCt>gAt	p.A319D	KCNV1_uc010mcw.3_Missense_Mutation_p.A319D	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	319						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CATGCGCAGAGCCCTGAGCAG	0.502												
CSMD3	114788	broad.mit.edu	37	8	113988211	113988211	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:113988211C>T	uc003ynu.3	-	6	1356	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	CSMD3_uc003ynt.3_Silent_p.T359T|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	399						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTGAGACTCGTAACTTGCA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)		
GABBR2	9568	broad.mit.edu	37	9	101235479	101235479	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:101235479G>A	uc004ays.3	-	5	1408	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	316					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGAAATCCACGCCAATGTAGC	0.572												
TSC1	7248	broad.mit.edu	37	9	135804224	135804224	+	Silent	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:135804224G>T	uc004cca.2	-	2	270	c.36C>A	c.(34-36)gcC>gcA	p.A12A	TSC1_uc004ccb.3_Silent_p.A12A|TSC1_uc011mcq.1_Silent_p.A12A|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Silent_p.A12A|TSC1_uc004cce.1_Silent_p.A12A	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	12					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.A12A(2)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGTCCAGCATGGCAAGAAGCT	0.502			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis			
LCN1	3933	broad.mit.edu	37	9	138415812	138415812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:138415812C>T	uc022bpk.1	+	3	439	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S	LCN1_uc022bpj.1_Missense_Mutation_p.P127S|LCN1_uc004cfz.2_Missense_Mutation_p.P127S|LCN1_uc004cga.2_Missense_Mutation_p.P127S	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	127					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GCACGGGAAGCCGGTCCGAGG	0.632												
CDKL5	6792	broad.mit.edu	37	X	18664128	18664128	+	Silent	SNP	C	C	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:18664128C>T	uc004cym.3	+	19	2967	c.2714_splice	c.e19-1	p.D905_splice	CDKL5_uc004cyn.3_Splice_Site_p.D905_splice|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	905					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.D905D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					actaactagacggtggatgtg	0.493												
KIF4A	24137	broad.mit.edu	37	X	69510643	69510643	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:69510643G>T	uc004dyg.3	+	2	366	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C	KIF4A_uc010nkw.3_Missense_Mutation_p.G75C|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.2_Missense_Mutation_p.G75C	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	75	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACTCATAAAAGGTGTATTTAA	0.408												
DIAPH2	1730	broad.mit.edu	37	X	96684727	96684727	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:96684727G>A	uc004efu.4	+	25	3620	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	DIAPH2_uc004eft.4_Missense_Mutation_p.R1075Q	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	1075	Arg/Lys-rich (basic).|DAD.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.R1075W(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGTCGAAAGCGGATTCCAAGG	0.408												
ALG13	79868	broad.mit.edu	37	X	110925413	110925413	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:110925413G>A	uc011msy.2	+	1	236	c.135G>A	c.(133-135)acG>acA	p.T45T	ALG13_uc022ccl.1_Silent_p.T45T|ALG13_uc022ccm.1_Intron|ALG13_uc022ccn.1_Silent_p.T45T|ALG13_uc004epi.2_Silent_p.T45T|ALG13_uc011msw.2_5'UTR|ALG13_uc011msx.2_Intron|ALG13_uc022ccp.1_Intron|ALG13_uc022cco.1_Non-coding_Transcript|ALG13_uc011msz.2_5'UTR|ALG13_uc011mta.2_Intron|ALG13_uc011mtb.2_5'UTR|ALG13_uc022ccq.1_Non-coding_Transcript	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	45					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GTAGAGGAACGGTGGTACCTG	0.413												
ODZ1	10178	broad.mit.edu	37	X	123554390	123554390	+	Missense_Mutation	SNP	C	C	T	rs148440423	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:123554390C>T	uc010nqy.3	-	24	4817	c.4753G>A	c.(4753-4755)Gcg>Acg	p.A1585T	ODZ1_uc011muj.2_Missense_Mutation_p.A1584T|ODZ1_uc004euj.3_Missense_Mutation_p.A1578T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1578					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.N1585N(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTGGTAATCGCGCCCAAGTCA	0.498												
SPANXN2	494119	broad.mit.edu	37	X	142795381	142795381	+	Silent	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:142795381G>A	uc004fbz.3	-	1	1051	c.297C>T	c.(295-297)gaC>gaT	p.D99D		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	99										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTCTTCGTCCTCCTGTG	0.527												
MAGEA1	4100	broad.mit.edu	37	X	152482500	152482500	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:152482500G>A	uc022chs.1	-	0	511	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	MAGEA1_uc004fhf.2_Missense_Mutation_p.L171F	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	171	MAGE.					cytoplasm|plasma membrane		p.L171F(2)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTGACAAGGACATAGGAG	0.517												
RPL10	6134	broad.mit.edu	37	X	153631649	153631649	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:153631649G>A	uc004fkr.1	+	2	348	c.313G>A	c.(313-315)Gta>Ata	p.V105I	RPL10_uc004fkq.1_Non-coding_Transcript|DNASE1L1_uc004fks.1_Silent_p.Y162Y|DNASE1L1_uc004fkt.1_Silent_p.Y162Y|DNASE1L1_uc004fku.1_Silent_p.Y162Y|DNASE1L1_uc004fkv.1_Silent_p.Y162Y|DNASE1L1_uc004fkw.1_Silent_p.Y162Y	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAACACATCGTAGAGGGCGT	0.622