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
FAM131C	348487	broad.mit.edu	37	1	16390042	16390042	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:16390042C>T	uc001axz.4	-	1	302	c.112G>A	c.(112-114)Gtg>Atg	p.V38M		NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.	38										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGAGCCACGGTGGGAGTG	0.632												
RCAN3	11123	broad.mit.edu	37	1	24857822	24857822	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:24857822C>T	uc021ojc.1	+	2	482	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RCAN3_uc021ojd.1_5'UTR|RCAN3_uc021oje.1_Nonsense_Mutation_p.R104*|RCAN3_uc001bjj.3_Nonsense_Mutation_p.R104*|RCAN3_uc009vre.3_Intron|RCAN3_uc021ojf.1_5'UTR|RCAN3_uc021ojg.1_Nonsense_Mutation_p.R104*|RCAN3_uc009vrg.3_Intron|RCAN3_uc009vrd.3_Nonsense_Mutation_p.R104*|RCAN3_uc009vrf.3_Nonsense_Mutation_p.R104*	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	104					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGCAAGAGCGCGAATAGAACT	0.413												
GRIK3	2899	broad.mit.edu	37	1	37285426	37285426	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:37285426T>C	uc001caz.2	-	11	1919	c.1784A>G	c.(1783-1785)cAc>cGc	p.H595R	GRIK3_uc001cba.1_Missense_Mutation_p.H595R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	595					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTGCAGGGGTGAGCATCGTA	0.562												
SLC44A5	204962	broad.mit.edu	37	1	75679448	75679448	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:75679448C>G	uc010oqz.1	-	20	2087	c.2021G>C	c.(2020-2022)aGa>aCa	p.R674T	SLC44A5_uc001dgt.2_Missense_Mutation_p.R635T|SLC44A5_uc001dgs.2_Missense_Mutation_p.R593T|SLC44A5_uc001dgr.2_Missense_Mutation_p.R593T|SLC44A5_uc001dgu.3_Missense_Mutation_p.R635T|SLC44A5_uc010ora.2_Missense_Mutation_p.R629T|SLC44A5_uc010orb.2_Missense_Mutation_p.R505T	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	635						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CACTGGCAGTCTTTGTGTGAA	0.378												
HRNR	388697	broad.mit.edu	37	1	152187697	152187697	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:152187697G>A	uc001ezt.1	-	2	6484	c.6408C>T	c.(6406-6408)caC>caT	p.H2136H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2136					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTAGAGCCGTGTTGTCCGT	0.557												
GOLT1A	127845	broad.mit.edu	37	1	204170871	204170871	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:204170871C>T	uc001has.1	-	2	372	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_uc001hat.1_Silent_p.R62R	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(2)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567												
NID1	4811	broad.mit.edu	37	1	236189279	236189279	+	Missense_Mutation	SNP	G	G	A	rs147220938		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:236189279G>A	uc001hxo.3	-	7	2003	c.1901C>T	c.(1900-1902)tCg>tTg	p.S634L	NID1_uc009xgd.3_Missense_Mutation_p.S634L	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	634	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCTGTCCACCGAGAGCTGCTG	0.592												
OPN4	94233	broad.mit.edu	37	10	88418396	88418396	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr10:88418396G>A	uc010qmk.1	+	4	840	c.613G>A	c.(613-615)Gtt>Att	p.V205I	OPN4_uc001kdp.3_Missense_Mutation_p.V205I|OPN4_uc001kdq.3_Missense_Mutation_p.V194I|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	194					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCTGCTGGGCGTTTGGCTCTA	0.647												
SCUBE2	57758	broad.mit.edu	37	11	9074727	9074727	+	Missense_Mutation	SNP	G	G	A	rs77907325		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:9074727G>A	uc001mhi.2	-	11	1441	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	SCUBE2_uc021qdk.1_5'Flank|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	456						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGGGACACACGGGGTGACACA	0.537												
TMPRSS4	56649	broad.mit.edu	37	11	117985881	117985881	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:117985881G>A	uc021qrd.1	+	10	1329	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Silent_p.A341A|TMPRSS4_uc010rxo.2_Silent_p.A344A|TMPRSS4_uc010rxs.2_Silent_p.A306A|TMPRSS4_uc010rxq.2_Silent_p.A199A|TMPRSS4_uc010rxr.2_Silent_p.A321A|TMPRSS4_uc010rxt.2_Silent_p.A321A	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	346	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGCTGCAGGCGTCAGTCCAGG	0.552												
C1QTNF5	83552	broad.mit.edu	37	11	119216274	119216274	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:119216274G>C	uc010rzg.1	-	4	657	c.497C>G	c.(496-498)cCc>cGc	p.P166R	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	166	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GTGGGTGTTGGGGGGGTAAGG	0.567												
POU2F3	25833	broad.mit.edu	37	11	120168973	120168973	+	Splice_Site	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:120168973G>C	uc021qrk.1	+	4	173	c.139_splice	c.e4-1	p.I47_splice	POU2F3_uc001pxc.3_Splice_Site_p.I45_splice|POU2F3_uc010rzk.2_Splice_Site|POU2F3_uc010rzl.2_Splice_Site	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	45					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TCCACTTGCAGATTAAAACCG	0.547												
ZNF202	7753	broad.mit.edu	37	11	123600382	123600382	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:123600382C>A	uc001pzd.1	-	4	954	c.554G>T	c.(553-555)gGg>gTg	p.G185V	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.G185V|ZNF202_uc001pzf.1_Missense_Mutation_p.G185V	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	185					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGCCGGTGCCCCCAGATCTGG	0.607												
ACAD8	27034	broad.mit.edu	37	11	134128470	134128470	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:134128470C>T	uc001qhk.3	+	3	503	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	ACAD8_uc009zdc.3_Missense_Mutation_p.P50S|ACAD8_uc010sco.1_Missense_Mutation_p.P50S|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.P71S|ACAD8_uc001qhl.3_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.P110S|ACAD8_uc009zde.1_Missense_Mutation_p.P21S	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	148					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.P148P(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		ATTTTGCCCACCGCTCTGTAC	0.468												
TMEM117	84216	broad.mit.edu	37	12	44782427	44782427	+	Missense_Mutation	SNP	C	C	T	rs150984405		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:44782427C>T	uc001rod.3	+	7	1583	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	TMEM117_uc001roe.3_Missense_Mutation_p.T402M|TMEM117_uc009zkc.3_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	506						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGACCCAACGACTTCTAAA	0.398												
NR2C1	7181	broad.mit.edu	37	12	95425195	95425195	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:95425195G>A	uc001tdm.4	-	10	1579	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	NR2C1_uc010suu.1_Intron|NR2C1_uc001tdn.4_Silent_p.C441C|NR2C1_uc001tdo.4_Silent_p.C441C	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	441					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCACTTGCCAGCACTGGGCAA	0.368												
VPS29	51699	broad.mit.edu	37	12	110929907	110929907	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:110929907A>G	uc001tqy.3	-	3	512	c.452T>C	c.(451-453)gTg>gCg	p.V151A	VPS29_uc001tqw.3_Non-coding_Transcript|VPS29_uc001tqx.3_Missense_Mutation_p.V155A|VPS29_uc001tqz.3_Non-coding_Transcript	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae) (VPS29), transcript variant 1, mRNA.	151					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATCCATCAACACAAATGATGG	0.328												
KSR2	283455	broad.mit.edu	37	12	118198984	118198984	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:118198984G>A	uc001two.2	-	3	786	c.731C>T	c.(730-732)cCg>cTg	p.P244L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	273	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTGCCCGGCGGGGTCACGGT	0.701												
ARHGAP5	394	broad.mit.edu	37	14	32561686	32561686	+	Missense_Mutation	SNP	A	A	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr14:32561686A>T	uc001wrl.3	+	1	2050	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	ARHGAP5_uc001wrm.3_Missense_Mutation_p.D604V|ARHGAP5_uc001wrn.3_Missense_Mutation_p.D604V|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	604					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTAGGGAAGGATGGCCTTGCC	0.373												
ATXN2L	11273	broad.mit.edu	37	16	28846701	28846701	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr16:28846701C>T	uc002dqy.3	+	19	2833	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.A889V|ATXN2L_uc002dra.3_Missense_Mutation_p.A889V|ATXN2L_uc002drb.3_Missense_Mutation_p.A889V|ATXN2L_uc002drc.3_Missense_Mutation_p.A889V|ATXN2L_uc010vdb.2_Missense_Mutation_p.A895V|ATXN2L_uc002dre.3_Missense_Mutation_p.A889V|ATXN2L_uc002drf.3_Missense_Mutation_p.A298V|ATXN2L_uc002drg.3_Missense_Mutation_p.A171V	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	889						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCCAGCATGCGGCCCCCAGT	0.632												
ITGAX	3687	broad.mit.edu	37	16	31384692	31384692	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr16:31384692G>A	uc002ebt.3	+	19	2556	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	ITGAX_uc002ebu.1_Missense_Mutation_p.R830H	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	830					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGTCCTACCGCTACGTGGCA	0.622												
KRT23	25984	broad.mit.edu	37	17	39092707	39092707	+	Missense_Mutation	SNP	C	C	T	rs148371500		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:39092707C>T	uc002hvm.1	-	1	738	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.R50Q|KRT23_uc002hvn.1_Missense_Mutation_p.R50Q	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	50	Head.					intermediate filament	structural molecule activity	p.T49T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGGGCAGCTCCGCGTGGTGAA	0.692												
KRTAP4-9	100132386	broad.mit.edu	37	17	39262036	39262036	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:39262036C>T	uc010wfp.2	+	0	396	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	132	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gctgtgtgtccagctgctgca	0.662												
DGKE	8526	broad.mit.edu	37	17	54940030	54940030	+	Missense_Mutation	SNP	G	G	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:54940030G>T	uc002iur.3	+	11	1762	c.1582G>T	c.(1582-1584)Ggg>Tgg	p.G528W	DGKE_uc002ius.1_3'UTR	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	528					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGGGCCCAAGGGCCCTGCAC	0.448												
CASKIN2	57513	broad.mit.edu	37	17	73498864	73498864	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:73498864G>C	uc002joc.3	-	17	2841	c.2291C>G	c.(2290-2292)tCt>tGt	p.S764C	CASKIN2_uc010wsc.2_Missense_Mutation_p.S682C	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	764	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCGGGCTAGAGGGTGAGCC	0.667												
EVPL	2125	broad.mit.edu	37	17	74017966	74017966	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:74017966G>A	uc010wss.1	-	6	1017	c.789C>T	c.(787-789)ggC>ggT	p.G263G	EVPL_uc002jqi.2_Silent_p.G263G|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	263	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCGCCGCACGCCCGCAGGGT	0.756												
SLC25A10	1468	broad.mit.edu	37	17	79682531	79682531	+	Silent	SNP	C	C	T	rs146181618	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:79682531C>T	uc010wut.2	+	6	834	c.702C>T	c.(700-702)ttC>ttT	p.F234F	SLC25A10_uc002kbi.3_Silent_p.F79F|SLC25A10_uc010dif.3_Silent_p.F79F|SLC25A10_uc010wuu.2_Silent_p.F33F	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	79					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGACTCGGTTCGCCATCTACG	0.687												
ADNP2	22850	broad.mit.edu	37	18	77896288	77896288	+	Missense_Mutation	SNP	C	C	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr18:77896288C>A	uc002lnw.3	+	3	3447	c.2992C>A	c.(2992-2994)Ccc>Acc	p.P998T		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	998					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGAGCAGCCTCCCATCCTAAA	0.517												
ZNF358	140467	broad.mit.edu	37	19	7585663	7585663	+	Missense_Mutation	SNP	T	T	C	rs28655671		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:7585663T>C	uc002mgn.2	+	1	1705	c.1535T>C	c.(1534-1536)cTt>cCt	p.L512P	ZNF358_uc021unu.1_Missense_Mutation_p.L512P|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	512					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AGCCCAGACCTTGATCCTGTG	0.647												
CYP2B7P1	1556	broad.mit.edu	37	19	41430242	41430242	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:41430242G>A	uc010ehg.1	+	0	73	c.65G>A	c.(64-66)cGt>cAt	p.R22H	CYP2A7_uc002opo.3_Intron|CYP2B7P1_uc010ehh.1_Missense_Mutation_p.R22H|CYP2B7P1_uc002opq.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 7 pseudogene 1 (CYP2B7P1), non-coding RNA.											NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CTGGTTCAGCGTCACCCTAAC	0.602												
MEGF8	1954	broad.mit.edu	37	19	42855690	42855690	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:42855690G>A	uc002otl.4	+	15	3399	c.2764G>A	c.(2764-2766)Ggc>Agc	p.G922S	MEGF8_uc002otm.4_Missense_Mutation_p.G530S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	989	PSI 3.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCACACGGGGGCTGTCGAGG	0.662												
ZNF513	130557	broad.mit.edu	37	2	27600813	27600813	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:27600813C>T	uc002rkk.3	-	3	1443	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	ZNF513_uc002rkj.3_Missense_Mutation_p.V347I	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	409					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R408H(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTATGGACGCGCTGGTGC	0.587												
IL1R1	3554	broad.mit.edu	37	2	102791960	102791960	+	Silent	SNP	C	C	T	rs113665542	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:102791960C>T	uc002tbq.3	+	10	1476	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	IL1R1_uc010fix.3_Intron|IL1R1_uc002tbr.3_Silent_p.D386D	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	386	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AGACCTATGACGCATATATAC	0.363												
ANKAR	150709	broad.mit.edu	37	2	190603404	190603404	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:190603404G>A	uc002uqw.2	+	18	3784	c.3696G>A	c.(3694-3696)ttG>ttA	p.L1232L	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Silent_p.L328L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1232						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTATTGTCTTGACAGGTAAGA	0.294												
DYNLRB1	83658	broad.mit.edu	37	20	33114101	33114101	+	Missense_Mutation	SNP	T	T	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr20:33114101T>C	uc002xal.3	+	1	92	c.32T>C	c.(31-33)cTg>cCg	p.L11P	DYNLRB1_uc010zuk.2_Missense_Mutation_p.L11P|DYNLRB1_uc002xao.3_Non-coding_Transcript	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.	11					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CTGAAGCGACTGCAGAGCCAG	0.587												
AIRE	326	broad.mit.edu	37	21	45706905	45706905	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr21:45706905G>A	uc002zei.2	+	2	479	c.352G>A	c.(352-354)Gtc>Atc	p.V118I		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	118					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCCCCCGGCCGTCCCCAAGGC	0.672									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy			
CYP2D7P1	1564	broad.mit.edu	37	22	42538618	42538618	+	Silent	SNP	A	A	G	rs3021080	by1000genomes	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr22:42538618A>G	uc003bci.3	-	3	639	c.258T>C	c.(256-258)ggT>ggC	p.G86G	CYP2D7P1_uc003bcg.3_5'Flank|CYP2D7P1_uc010gyv.3_5'UTR|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_5'Flank|CYP2D7P1_uc010gyx.1_Silent_p.G86G					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						TGTCCAAGAGACCGTTGGGGC	0.667												
ITPR1	3708	broad.mit.edu	37	3	4669476	4669476	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr3:4669476C>T	uc003bqc.3	+	4	543	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	ITPR1_uc010hbz.3_Missense_Mutation_p.R65C|ITPR1_uc021wsi.1_Missense_Mutation_p.R65C|ITPR1_uc021wsj.1_Missense_Mutation_p.R65C|ITPR1_uc011asu.2_Missense_Mutation_p.R65C	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	65					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCCCATGAACCGCTACTCTGC	0.468												
CHST2	9435	broad.mit.edu	37	3	142840212	142840212	+	Missense_Mutation	SNP	A	A	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr3:142840212A>G	uc003evm.3	+	1	1493	c.554A>G	c.(553-555)aAc>aGc	p.N185S	CHST2_uc021xex.1_Missense_Mutation_p.N185S	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	185					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGCTATTCAACCAGAATCCC	0.622												
SH3RF1	57630	broad.mit.edu	37	4	170190261	170190261	+	Missense_Mutation	SNP	G	G	C			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr4:170190261G>C	uc003isa.1	-	1	438	c.103C>G	c.(103-105)Cga>Gga	p.R35G		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	35						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AGCAAACATCGCTTGCAAAAC	0.517												
PCDHAC2	56145	broad.mit.edu	37	5	140181796	140181796	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:140181796C>T	uc003lhf.2	+	0	1014	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.L338L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	353	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACTCGAAATTGTGG	0.398												
PCDHGC5	56103	broad.mit.edu	37	5	140741377	140741377	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:140741377G>A	uc003ljs.2	+	0	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.A559T|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	561	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGACAATGCGCCACGGGT	0.692												
EIF4E1B	253314	broad.mit.edu	37	5	176070180	176070180	+	Missense_Mutation	SNP	C	C	G			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:176070180C>G	uc010jkf.1	+	3	697	c.113C>G	c.(112-114)tCt>tGt	p.S38C		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.	38					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCAAACTCTCCCAGGACT	0.612												
SLC17A2	10246	broad.mit.edu	37	6	25917030	25917030	+	Silent	SNP	T	T	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr6:25917030T>A	uc011dkb.2	-	6	896	c.813A>T	c.(811-813)acA>acT	p.T271T	SLC17A2_uc011dkc.2_Silent_p.T271T|SLC17A2_uc003nfl.3_Silent_p.T271T			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	271					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTGGTAGGCATGTGACCATCG	0.478												
DNAH8	1769	broad.mit.edu	37	6	38834386	38834386	+	Missense_Mutation	SNP	G	G	A	rs139579198		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr6:38834386G>A	uc021yzh.1	+	45	6627	c.6518G>A	c.(6517-6519)cGc>cAc	p.R2173H	DNAH8_uc003ooe.2_Missense_Mutation_p.R1956H	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.R1956H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGCTGGGCGCCAGGAACTA	0.323												
SDK1	221935	broad.mit.edu	37	7	4116751	4116751	+	Silent	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:4116751C>T	uc003smx.3	+	20	3271	c.3132C>T	c.(3130-3132)gaC>gaT	p.D1044D	SDK1_uc010kso.3_Silent_p.D320D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1044	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCATCGACGTGGCCGCTG	0.587												
RHBDD2	57414	broad.mit.edu	37	7	75517607	75517607	+	Silent	SNP	G	G	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:75517607G>T	uc003udw.1	+	3	1119	c.1035G>T	c.(1033-1035)ggG>ggT	p.G345G	RHBDD2_uc003udv.1_Silent_p.G204G	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	345						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGTATTCTGGGGCCTTGGGCA	0.622												
KCNH2	3757	broad.mit.edu	37	7	150649546	150649546	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:150649546G>A	uc003wic.3	-	5	1925	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	KCNH2_uc003wib.3_Silent_p.F168F|KCNH2_uc011kux.2_Silent_p.F412F|KCNH2_uc003wid.3_Silent_p.F168F|KCNH2_uc003wie.3_Silent_p.F508F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	508			Missing (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGAGCAGGTCGAAGGGGATGG	0.627												
EPPK1	83481	broad.mit.edu	37	8	144941723	144941723	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr8:144941723G>A	uc003zaa.1	-	0	5712	c.5699C>T	c.(5698-5700)gCg>gTg	p.A1900V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1900						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGACCCCCGCAATGCAGCC	0.632												
PTPRD	5789	broad.mit.edu	37	9	8492897	8492897	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:8492897C>T	uc003zkk.3	-	26	3175	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	811	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R811C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGCTTGCTGCGAGCACCATC	0.463										TSP Lung(15;0.13)		
SHB	6461	broad.mit.edu	37	9	37919970	37919970	+	Missense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:37919970C>T	uc004aax.3	-	5	1946	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	460	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTGGTTTTGGCCAGTTTCATG	0.502												
KCNT1	57582	broad.mit.edu	37	9	138676650	138676650	+	Missense_Mutation	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:138676650G>A	uc011mdq.2	+	26	3145	c.3071G>A	c.(3070-3072)cGc>cAc	p.R1024H	KCNT1_uc011mdr.2_Missense_Mutation_p.R851H|KCNT1_uc010nbf.3_Missense_Mutation_p.R979H|KCNT1_uc004cgo.1_Missense_Mutation_p.R773H	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1024						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGTACGGCCGCCTCTTCCAG	0.637												
ARSD	414	broad.mit.edu	37	X	2836003	2836003	+	Silent	SNP	G	G	A			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:2836003G>A	uc004cqy.3	-	4	805	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	235						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCAGCCCACGCCGGCCATGC	0.592												
CXorf58	254158	broad.mit.edu	37	X	23953460	23953460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:23953460C>T	uc004daz.1	+	6	1047	c.703C>T	c.(703-705)Cga>Tga	p.R235*	CXorf58_uc011mju.1_Nonsense_Mutation_p.R235*	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	235										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAACCGTCTACGAAATGAAAT	0.378												
ZNF182	7569	broad.mit.edu	37	X	47842386	47842386	+	Silent	SNP	G	G	A	rs141215624	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:47842386G>A	uc004dir.3	-	5	598	c.252C>T	c.(250-252)tgC>tgT	p.C84C	ZNF182_uc004dis.3_Silent_p.C65C|ZNF182_uc004dit.3_Silent_p.C84C	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CTTCTGCCGGGCATTCTTCTA	0.478