Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAM13B	51306	broad.mit.edu	37	5	137346798	137346798	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:137346798C>G	uc003lbz.2	-	5	1123	c.589G>C	c.(589-591)Gtg>Ctg	p.V197L	FAM13B_uc003lcb.2_Missense_Mutation_p.V79L|FAM13B_uc003lca.2_Missense_Mutation_p.V197L	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	197	Glu-rich.|Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ATCCTGCTCACTATTTCTTGC	0.338000													11	10					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100227199	100227199	+	Silent	SNP	T	T	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:100227199T>G	uc004axj.3	+	7	1743	c.1518T>G	c.(1516-1518)ccT>ccG	p.P506P	TDRD7_uc011lux.2_Silent_p.P432P	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	506					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTAAGAATCCTAAGATCACAC	0.458000													26	74					0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141316790	141316790	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:141316790A>C	uc003lls.3	+	10	1299	c.1177A>C	c.(1177-1179)Att>Ctt	p.I393L	KIAA0141_uc003llt.3_Missense_Mutation_p.I393L	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	393					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTTGGAATTTGCTATGA	0.517000													20	50					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42160014	42160014	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:42160014G>C	uc002iff.1	-	19	2881	c.2549C>G	c.(2548-2550)gCc>gGc	p.A850G	HDAC5_uc002ifd.1_Missense_Mutation_p.A849G|HDAC5_uc002ife.1_Missense_Mutation_p.A849G|HDAC5_uc010czp.1_Missense_Mutation_p.A764G|HDAC5_uc002ifg.1_Missense_Mutation_p.A159G|HDAC5_uc002ifh.2_Missense_Mutation_p.A849G	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	849	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGCGGTGATGGCTACAGAGTT	0.592000													37	98					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38447445	38447445	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:38447445A>G	uc002huj.1	+	2	524	c.314A>G	c.(313-315)aAg>aGg	p.K105R		NM_001254	NP_001245	Q99741	CDC6_HUMAN	Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA.	105					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTGACAATTAAGTCTCCTAGC	0.398000													10	93					0	0	1	0	0
TTR	7276	broad.mit.edu	37	18	29178601	29178601	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr18:29178601A>G	uc002kwx.4	+	3	543	c.407A>G	c.(406-408)tAt>tGt	p.Y136C		NM_000371	NP_000362	P02766	TTHY_HUMAN	Homo sapiens transthyretin (TTR), mRNA.	136	Thyroid hormone binding.		Y -> S (in AMYL-TTR; amyloid polyneuropathy).|Y -> V (requires 2 nucleotide substitutions).		transport	cytoplasm	hormone activity	p.S135F(2)|p.S135S(1)		cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCTACTCCTATTCCACCACG	0.552000													15	50					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117157	117157	+	RNA	SNP	G	G	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chrGL000205.1:117157G>C	uc002kgk.4	+	0		c.535G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CTTTTGATCTGAGAGTTGCAA	0.448000													3	29					0	0	1	0	0
SAMD13	148418	broad.mit.edu	37	1	84768963	84768963	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:84768963G>T	uc001djr.3	+	1	280	c.88G>T	c.(88-90)Gta>Tta	p.V30L	SAMD13_uc010orw.2_Missense_Mutation_p.V16L|SAMD13_uc010orx.2_Missense_Mutation_p.V16L	NM_001010971	NP_001128136	Q5VXD3	SAM13_HUMAN	Homo sapiens sterile alpha motif domain containing 13 (SAMD13), transcript variant 1, mRNA.	36										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CTCTGTCGGTGTAAAAAAGTA	0.408000													17	21					4.35082e-09	4.70454e-09	1	1	0
OR51E1	143503	broad.mit.edu	37	11	4674486	4674486	+	Missense_Mutation	SNP	G	G	A	rs148787592		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr11:4674486G>A	uc021qcq.1	+	0	730	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	OR51E1_uc001lzi.4_Missense_Mutation_p.V244I	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V243I(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACTTGCGTCTCTCATGT	0.498000													24	45					0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43744053	43744053	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr3:43744053T>C	uc003cmx.3	+	2	590	c.480T>C	c.(478-480)gcT>gcC	p.A160A		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	160					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TCTTGGCTGCTGCTTACTCGC	0.468000													43	120					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30038229	30038229	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr22:30038229T>C	uc003age.4	+	3	845	c.402T>C	c.(400-402)ccT>ccC	p.P134P	NF2_uc003afy.4_Silent_p.P134P|NF2_uc003afz.4_Silent_p.P51P|NF2_uc003agf.4_Silent_p.P134P|NF2_uc003agb.4_Silent_p.P57P|NF2_uc003agc.4_Silent_p.P96P|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Silent_p.P134P|NF2_uc003aga.4_Silent_p.P92P|NF2_uc003agh.4_Silent_p.P93P|NF2_uc003agi.4_Silent_p.P51P|NF2_uc003agj.4_Silent_p.P134P	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	134	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(10)|p.?(3)|p.L127_P134del(2)|p.K123fs*2(1)|p.P134fs*40(1)|p.V110_L141del(1)|p.L127_D382del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TCTACTGCCCTCCTGAGGCTT	0.468000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				13	21					0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117078689	117078689	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:117078689T>C	uc001egm.3	-	2	647	c.526A>G	c.(526-528)Aag>Gag	p.K176E	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.K176E|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Missense_Mutation_p.K176E	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	176	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TTTTCCATCTTAAAATATATA	0.353000													14	25					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62851117	62851117	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr20:62851117A>G	uc002yii.3	+	12	2387	c.2023A>G	c.(2023-2025)Aaa>Gaa	p.K675E	MYT1_uc002yih.3_Missense_Mutation_p.K377E|MYT1_uc002yij.3_Missense_Mutation_p.K334E	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	675					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGCATGCACAAACACCGCAA	0.557000													46	80					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111761412	111761412	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:111761412A>C	uc004bdo.1	-	1	308	c.266T>G	c.(265-267)aTa>aGa	p.I89R	CTNNAL1_uc004bdp.1_Missense_Mutation_p.I89R	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	89					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.A88T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTCATTGGCTATAGCTTCTCC	0.358000													9	30					0	0	1	0	0
ZNF498	221785	broad.mit.edu	37	7	99219063	99219063	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr7:99219063T>A	uc003url.1	+	4	782	c.455T>A	c.(454-456)aTc>aAc	p.I152N	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.3_Non-coding_Transcript|ZNF498_uc010lgf.1_Missense_Mutation_p.I152N|ZNF498_uc003uro.1_5'UTR	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	152					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAGCCAGGCATCCAGCTGGGG	0.592000													55	83					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210701	37210701	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:37210701C>T	uc010xtl.2	+	5	1297	c.1075C>T	c.(1075-1077)Cac>Tac	p.H359Y	ZNF567_uc002oeo.1_Missense_Mutation_p.H359Y|ZNF567_uc010xtk.1_Missense_Mutation_p.H359Y|ZNF567_uc002oep.4_Missense_Mutation_p.H328Y|ZNF567_uc002oeq.1_Missense_Mutation_p.H328Y	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCAGAGAACTCACACGGGAGA	0.453000													27	40					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52887363	52887363	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:52887363C>T	uc002pzc.3	+	3	579	c.530C>T	c.(529-531)gCa>gTa	p.A177V	ZNF880_uc021uyu.1_Missense_Mutation_p.A177V|ZNF880_uc021uyv.1_5'Flank	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	177					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GAACAAAAAGCACAAATAAGG	0.343000													13	37					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99481633	99481633	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr13:99481633G>A	uc001vnt.2	-	42	4882	c.4827C>T	c.(4825-4827)agC>agT	p.S1609S	DOCK9_uc001vnw.2_Silent_p.S1608S|DOCK9_uc021rlw.1_Silent_p.S1608S|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.S1609S|DOCK9_uc001vnq.2_Silent_p.S181S|DOCK9_uc001vnr.2_Silent_p.S252S|DOCK9_uc010tin.1_Silent_p.S252S|DOCK9_uc001vns.2_Silent_p.S181S|DOCK9_uc010tio.1_Silent_p.S301S|DOCK9_uc010tip.1_Silent_p.S319S|DOCK9_uc001vnu.1_Silent_p.S181S|DOCK9_uc010tiq.1_Silent_p.S587S	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1609	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTCGGGCGTGCTGGCATAGG	0.582000													28	66					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904781	37904781	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:37904781T>C	uc002ogj.3	-	8	1783	c.851A>G	c.(850-852)cAt>cGt	p.H284R	ZNF569_uc002ogh.3_Missense_Mutation_p.H101R|ZNF569_uc002ogi.3_Missense_Mutation_p.H260R	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCTTTGATGTCTAATGAG	0.313000													8	7					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43184050	43184050	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:43184050T>C	uc003ouk.3	+	30	6166	c.6091T>C	c.(6091-6093)Tcc>Ccc	p.S2031P	CUL9_uc003oul.3_Missense_Mutation_p.S2003P|CUL9_uc010jyk.3_Missense_Mutation_p.S1183P|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2031					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTGGCTCATTCCCACTGGGG	0.602000													16	35					0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118183873	118183873	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:118183873C>T	uc003ksa.3	-	4	672	c.638G>A	c.(637-639)cGg>cAg	p.R213Q		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	213										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CGGCTGCATCCGAATTACATA	0.318000													28	66					0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42893185	42893185	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:42893185G>A	uc021yzp.1	+	3	737	c.656G>A	c.(655-657)gGa>gAa	p.G219E	PTCRA_uc010jxy.3_Missense_Mutation_p.G179E|PTCRA_uc003osx.3_Missense_Mutation_p.G204E|PTCRA_uc010jxz.3_Missense_Mutation_p.G97E	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	204						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			GAGACTGGGGGACGAGAGGCC	0.746000													3	0					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117869943	117869943	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr11:117869943G>T	uc001prv.3	+	6	1401	c.1324G>T	c.(1324-1326)Gca>Tca	p.A442S	IL10RA_uc010rxl.2_Missense_Mutation_p.A422S|IL10RA_uc010rxm.2_Missense_Mutation_p.A422S|IL10RA_uc010rxn.2_Missense_Mutation_p.A293S|IL10RA_uc001prw.3_Missense_Mutation_p.A293S	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	442						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AGCTGCTGTGGCATTCCAGGG	0.637000													16	41					3.52763e-06	3.66543e-06	1	1	0
POM121L10P	646074	broad.mit.edu	37	22	25053827	25053827	+	RNA	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr22:25053827A>G	uc003abc.2	-	0		c.1288T>C								Homo sapiens POM121 membrane glycoprotein-like 10, pseudogene (POM121L10P), non-coding RNA.																		GCAGATGCTAAGGGGGCCAGT	0.587000													3	5					0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884349	38884349	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr21:38884349G>A	uc002ywk.3	+	10	1883	c.1807G>A	c.(1807-1809)Ggt>Agt	p.G603S	DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_Missense_Mutation_p.G594S|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_Missense_Mutation_p.G364S	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	603					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCATCACCATGGTAACAGTTC	0.502000													37	73					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187093141	187093141	+	Nonstop_Mutation	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:187093141A>T	uc003iyt.4	+	13	2028	c.1449A>T	c.(1447-1449)tgA>tgT	p.*483C	FAM149A_uc010isl.3_Nonstop_Mutation_p.*483C|FAM149A_uc011clb.2_Nonstop_Mutation_p.*482C	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	0										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TGACATCTTGAAACCACCTCA	0.423000													5	42					0	0	1	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762075	48762075	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chrX:48762075G>A	uc011mmm.1	-	4	1517	c.1195C>T	c.(1195-1197)Ccg>Tcg	p.P399S	SLC35A2_uc004dlo.1_Missense_Mutation_p.P371S|SLC35A2_uc011mml.1_Missense_Mutation_p.P384S|SLC35A2_uc004dlp.1_Missense_Mutation_p.P371S|SLC35A2_uc011mmn.1_Missense_Mutation_p.P310S|SLC35A2_uc004dlq.3_Missense_Mutation_p.T174I|SLC35A2_uc004dlr.1_3'UTR	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	371					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	UDP-galactose transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GACAGCTGCGGTGGTGGTGGC	0.652000													13	7					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824279	74824279	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:74824279T>A	uc021rwl.1	+	0	793	c.793T>A	c.(793-795)Tca>Aca	p.S265T	VRTN_uc001xpw.4_Missense_Mutation_p.S265T	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	265					transposition, DNA-mediated		DNA binding|transposase activity	p.L264F(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCCCCACTCTCATCGCCGGC	0.637000													14	26					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136393707	136393707	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:136393707G>T	uc002tuo.3	+	10	1227	c.857G>T	c.(856-858)aGa>aTa	p.R286I	R3HDM1_uc010fni.3_Missense_Mutation_p.R284I|R3HDM1_uc002tup.3_Missense_Mutation_p.R230I|R3HDM1_uc010zbh.2_Missense_Mutation_p.R118I	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	286							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATAGAAGAAAGAGAAGAAGAG	0.343000													19	44					6.21321e-17	7.18571e-17	1	1	0
WNK2	65268	broad.mit.edu	37	9	96079890	96079890	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:96079890C>T	uc004ati.1	+	28	6716	c.6716C>T	c.(6715-6717)cCg>cTg	p.P2239L	WNK2_uc011lud.1_Missense_Mutation_p.P2202L|WNK2_uc004atj.3_Missense_Mutation_p.P2202L|WNK2_uc004atk.3_Missense_Mutation_p.P1727L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2239					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGAGCCGCCCCGACCCTGTCC	0.667000													5	7					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113684200	113684200	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr3:113684200G>A	uc003eax.3	-	16	2760	c.2613C>T	c.(2611-2613)atC>atT	p.I871I		NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	871										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGATCCAGAGGATCCTCCTTT	0.343000													3	11					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36294405	36294405	+	Silent	SNP	G	G	C	rs140796295		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:36294405G>C	uc003oly.3	-	4	1096	c.918C>G	c.(916-918)tcC>tcG	p.S306S		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	306										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TGGCCTCCTCGGAGCCGTGTT	0.567000													16	33					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294229	31294229	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:31294229C>A	uc003jhe.2	+	2	749	c.389C>A	c.(388-390)gCt>gAt	p.A130D	CDH6_uc003jhd.2_Missense_Mutation_p.A130D	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	130	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGAGCTCAAGCTATAAACAGA	0.458000													17	40					4.96729e-08	5.32782e-08	1	1	0
MAP3K9	4293	broad.mit.edu	37	14	71199898	71199898	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:71199898T>G	uc001xmm.3	-	10	2188	c.2188A>C	c.(2188-2190)Acc>Ccc	p.T730P	MAP3K9_uc010ttk.2_Missense_Mutation_p.T458P|MAP3K9_uc001xmk.3_Missense_Mutation_p.T463P|MAP3K9_uc001xml.3_Missense_Mutation_p.T744P	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	730					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGCTGAGGGGTACTCGTGGCC	0.652000													3	11					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10639160	10639160	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr20:10639160T>G	uc002wnw.2	-	3	1166	c.650A>C	c.(649-651)aAc>aCc	p.N217T		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	217	DSL.				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAAGTTTTGTTGCCATTCTG	0.493000									Alagille Syndrome				22	29					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103552626	103552626	+	Silent	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr10:103552626A>G	uc001ktv.2	-	11	2588	c.2145T>C	c.(2143-2145)taT>taC	p.Y715Y	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Silent_p.Y662Y|MGEA5_uc009xws.2_Silent_p.Y648Y	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	715	Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	p.Y715H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GTCTGATAGTATAAACTTTGG	0.413000													22	33					0	0	1	0	0
L2HGDH	79944	broad.mit.edu	37	14	50713788	50713788	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:50713788T>C	uc001wxu.3	-	9	1459	c.1380A>G	c.(1378-1380)agA>agG	p.R460R	L2HGDH_uc010tqn.2_Intron|L2HGDH_uc010tqo.1_Silent_p.R460R	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	460					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATAATTCAAATCTTTGTTGTA	0.328000													30	49					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158828654	158828654	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr7:158828654T>C	uc003woh.3	-	7	984	c.798A>G	c.(796-798)ttA>ttG	p.L266L	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	266					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CGGTGTCTTCTAAGTAGAGCC	0.597000													54	63					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168646	69168646	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr3:69168646A>G	uc003dns.2	-	1	1069	c.860T>C	c.(859-861)tTc>tCc	p.F287S	LMOD3_uc003dnt.2_Missense_Mutation_p.F287S	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	287						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GGCTAAACTGAATGTTTTGAT	0.398000													3	58					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213251150	213251150	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:213251150T>C	uc010ptr.2	+	2	413	c.254T>C	c.(253-255)aTa>aCa	p.I85T	RPS6KC1_uc001hkd.3_Missense_Mutation_p.I73T|RPS6KC1_uc010pts.2_5'UTR|RPS6KC1_uc010ptt.2_5'UTR|RPS6KC1_uc010ptu.2_Intron|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_5'UTR	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	85	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GCTAAAGGAATAGTGTTTGGT	0.279000													29	32					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72182014	72182014	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr8:72182014G>A	uc003xyu.3	-	10	1651	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	EYA1_uc003xyt.4_Silent_p.H304H|EYA1_uc003xyr.4_Silent_p.H332H|EYA1_uc010lzf.3_Silent_p.H264H|EYA1_uc003xys.4_Silent_p.H337H|EYA1_uc011lfe.2_Silent_p.H331H|EYA1_uc003xyv.3_Silent_p.H215H	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	337					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.F336F(1)|p.H337Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TAAGCAAGGAGTGGAAAACAA	0.403000													26	57					0	0	1	0	0
PEX12	5193	broad.mit.edu	37	17	33904481	33904481	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:33904481A>C	uc002hjp.3	-	1	872	c.256T>G	c.(256-258)Ttt>Gtt	p.F86V		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	86					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGCCGTAAAAGTTTTCAGAA	0.423000													10	21					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151381040	151381040	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:151381040G>A	uc001eyd.2	-	13	2394	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	POGZ_uc021oyq.1_Silent_p.S640S|POGZ_uc010pdb.2_Silent_p.S684S|POGZ_uc010pdc.2_Silent_p.S631S|POGZ_uc009wmv.2_Silent_p.S598S|POGZ_uc001eyf.2_Silent_p.S649S|POGZ_uc010pdd.2_Silent_p.S184S	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	693					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCCCTCGGGAAGCCCGGA	0.532000													15	29					0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57466844	57466844	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr11:57466844G>A	uc001nkx.1	+	10	3192	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	ZDHHC5_uc001nky.1_Missense_Mutation_p.V593I|ZDHHC5_uc001nkz.1_Missense_Mutation_p.V460I	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	646						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCAACCTGGTGTCTCTGAGAC	0.527000													11	15					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029470	32029470	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:32029470G>T	uc003nzl.2	-	20	7398	c.7196C>A	c.(7195-7197)aCa>aAa	p.T2399K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2459	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGGGTTCTGTGGGGCTGGG	0.637000													2	13					1	1	1	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117544	117544	+	RNA	SNP	G	G	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chrGL000205.1:117544G>C	uc002kgk.4	+	0		c.922G>C								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CGAAATTGCTGTGTGCAGCAT	0.592000													3	34					0	0	1	0	0
BTN2A1	11120	broad.mit.edu	37	6	26458834	26458834	+	Splice_Site	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:26458834G>A	uc003nib.2	+	2	219	c.-29_splice	c.e2-1		BTN2A1_uc021yni.1_Splice_Site|BTN2A1_uc003nic.2_Splice_Site|BTN2A1_uc011dko.2_Intron	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.						lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGTAACCCTAGGCCTCCTGTC	0.617000													21	40					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65739904	65739904	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:65739904G>A	uc002jgd.1	+	17	2092	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	NOL11_uc010wql.1_Missense_Mutation_p.E515K|NOL11_uc010deu.1_Missense_Mutation_p.E292K	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	697						nucleolus		p.R696L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTTTTCGGGAGCTACAGAA	0.299000													6	20					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44450334	44450334	+	Silent	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:44450334A>T	uc003gwu.3	-	0	491	c.207T>A	c.(205-207)acT>acA	p.T69T		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	69	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T69N(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGCTGGCCAAAGTACTGTCCG	0.677000										HNSCC(17;0.042)			11	11					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6536187	6536187	+	Silent	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:6536187C>A	uc003zkc.3	-	22	2908	c.2715G>T	c.(2713-2715)gtG>gtT	p.V905V		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	905					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGTGGGCTCCACCATGAGGG	0.577000													3	104					1.024e-07	1.08954e-07	1	1	0
USP32	84669	broad.mit.edu	37	17	58288852	58288852	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:58288852C>A	uc002iyo.1	-	19	2489	c.2203G>T	c.(2203-2205)Ggt>Tgt	p.G735C	USP32_uc002iyn.1_Missense_Mutation_p.G405C	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	735					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTGCTTAGACCTGTGGCTCCC	0.413000													51	109					3.57465e-26	4.20733e-26	1	1	0
LGALS3BP	3959	broad.mit.edu	37	17	76967786	76967786	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:76967786T>C	uc002jwh.3	-	5	1809	c.1630A>G	c.(1630-1632)Att>Gtt	p.I544V	LGALS3BP_uc002jwi.3_Missense_Mutation_p.I350V	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	544					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCACTGGGAATCGCAGCCTTC	0.612000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	45					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021617	16021617	+	Silent	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr8:16021617A>G	uc010lsu.3	-	4	892	c.828T>C	c.(826-828)gaT>gaC	p.D276D	MSR1_uc003wwz.3_Silent_p.D258D|MSR1_uc003wxa.3_Silent_p.D258D|MSR1_uc003wxb.3_Silent_p.D258D|MSR1_uc011kxz.2_Silent_p.D32D	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	258	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.P275A(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AATGTTCCCAATCTTTCAGTC	0.303000													10	28					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75476737	75476737	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr3:75476737C>T	uc003dpp.4	-	5	687	c.328G>A	c.(328-330)Gag>Aag	p.E110K	FAM86DP_uc003dps.4_Intron|FAM86DP_uc003dpq.4_Missense_Mutation_p.E18K|FAM86DP_uc003dpr.4_Intron					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.									p.E194K(2)									CGGAGCTGCTCGAGGACCCGG	0.602000													4	46					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111761413	111761413	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:111761413T>C	uc004bdo.1	-	1	307	c.265A>G	c.(265-267)Ata>Gta	p.I89V	CTNNAL1_uc004bdp.1_Missense_Mutation_p.I89V	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	89					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.A88T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TCATTGGCTATAGCTTCTCCT	0.353000													9	30					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140110791	140110791	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:140110791C>G	uc004clx.3	+	13	1855	c.1744C>G	c.(1744-1746)Ctc>Gtc	p.L582V	NDOR1_uc004clw.3_Missense_Mutation_p.L573V|NDOR1_uc011mes.2_Missense_Mutation_p.L566V|NDOR1_uc004cly.3_3'UTR	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	573					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGAGGGTGGACTCTGCAGCCC	0.672000													5	13					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121769482	121769482	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr7:121769482G>A	uc003vka.3	-	1	416	c.320C>T	c.(319-321)gCa>gTa	p.A107V	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.A107V|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	107	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGAGAAAAATGCATAAGTCTT	0.348000													13	20					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144457751	144457751	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:144457751A>C	uc003ijg.3	+	10	1877	c.1415A>C	c.(1414-1416)tAt>tCt	p.Y472S		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	472					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GGTCCACCTTATACAACAGAT	0.398000													95	152					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805602	102805602	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:102805602G>A	uc002tbs.3	+	2	251	c.125G>A	c.(124-126)tGt>tAt	p.C42Y	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	42	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GCTTTTAATTGTACATTCCCT	0.358000													12	26					0	0	1	0	0
RABAC1	10567	broad.mit.edu	37	19	42461228	42461228	+	Silent	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:42461228G>T	uc002osf.3	-	3	495	c.411C>A	c.(409-411)ggC>ggA	p.G137G		NM_006423	NP_006414	Q9UI14	PRAF1_HUMAN	Homo sapiens Rab acceptor 1 (prenylated) (RABAC1), mRNA.	137						Golgi apparatus|cell junction|integral to membrane|synaptic vesicle	identical protein binding			central_nervous_system(1)|kidney(1)|prostate(1)	3						GGAAGGAGATGCCTCCAGCCA	0.642000													38	66					6.34439e-16	7.27417e-16	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47511190	47511190	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr18:47511190C>A	uc002leb.2	-	7	1132	c.844G>T	c.(844-846)Gca>Tca	p.A282S	MYO5B_uc021ukb.1_Missense_Mutation_p.A281S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	282	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AAGTCCTCTGCACTTGCTGTG	0.502000													3	98					0.014758	0.0149833	1	1	0
FAM71B	153745	broad.mit.edu	37	5	156590131	156590131	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:156590131G>A	uc003lwn.3	-	1	1245	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	382						nucleus		p.T382N(2)|p.T381T(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACACTTGCTGGTCGTAATACT	0.572000													9	31					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210700	37210700	+	Silent	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:37210700T>A	uc010xtl.2	+	5	1296	c.1074T>A	c.(1072-1074)acT>acA	p.T358T	ZNF567_uc002oeo.1_Silent_p.T358T|ZNF567_uc010xtk.1_Silent_p.T358T|ZNF567_uc002oep.4_Silent_p.T327T|ZNF567_uc002oeq.1_Silent_p.T327T	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCAGAGAACTCACACGGGAG	0.453000													28	41					0	0	1	0	0
C18orf21	83608	broad.mit.edu	37	18	33558958	33558958	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr18:33558958C>G	uc002kzc.3	+	4	756	c.652C>G	c.(652-654)Ctt>Gtt	p.L218V	C18orf21_uc002kzd.3_Missense_Mutation_p.L130V|C18orf21_uc021uit.1_3'UTR|C18orf21_uc021uiu.1_Missense_Mutation_p.L130V	NM_031446	NP_001188404	Q32NC0	CR021_HUMAN	Homo sapiens chromosome 18 open reading frame 21 (C18orf21), transcript variant 1, mRNA.	218										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GAAGGGTGGACTTTTAAAATA	0.308000													15	25					0	0	1	0	0
RG9MTD1	54931	broad.mit.edu	37	3	101284214	101284214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr3:101284214C>T	uc003duz.3	+	1	737	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	RG9MTD1_uc021xbw.1_Nonsense_Mutation_p.Q197*	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	197					tRNA processing	mitochondrion	methyltransferase activity|protein binding	p.A196V(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						GAAGGGTGCCCAGGCCATGCA	0.398000													12	26					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60908164	60908164	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr20:60908164G>A	uc002ycq.3	-	25	3331	c.3264C>T	c.(3262-3264)atC>atT	p.I1088I	LAMA5_uc021wfw.1_Silent_p.I1088I|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1088	Domain IV 1 (domain IV B).				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)	CCGTGCAGGTGATCAGTGGCG	0.716000													8	7					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325212	47325212	+	RNA	SNP	G	G	A	rs111656248	by1000genomes	TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:47325212G>A	uc001cqo.1	-	8		c.1356C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AATAAGAATGGCCCTAGGTTC	0.393000													3	33					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325026	79325026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:79325026G>A	uc010mpk.3	-	7	2288	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	PRUNE2_uc022bih.1_Nonsense_Mutation_p.Q544*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	722					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGTTCAGGCTGACCAAATTCA	0.458000													30	27					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23383993	23383993	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:23383993G>A	uc001bgi.2	+	6	1096	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	KDM1A_uc001bgj.2_Missense_Mutation_p.R336Q	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	316	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTGGGTGGACGAGTTGCCACA	0.428000													3	78					0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239093869	239093869	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:239093869A>G	uc002vxv.3	-	5	615	c.485T>C	c.(484-486)tTt>tCt	p.F162S	ILKAP_uc010zns.2_Missense_Mutation_p.F94S|ILKAP_uc002vxw.3_Missense_Mutation_p.F42S|ILKAP_uc021vyt.1_Intron|ILKAP_uc021vyu.1_Intron|ILKAP_uc010znt.1_Missense_Mutation_p.F42S	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	162	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGTGCAGCAAATTTTGAGGC	0.353000													26	66					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223286361	223286361	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:223286361G>A	uc021pjl.1	-	0	13	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	TLR5_uc001hnv.2_Silent_p.L5L|TLR5_uc001hnw.2_Silent_p.L5L	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	5					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGAAGGTCCAGGTGGTCTCCC	0.498000													46	75					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75476735	75476735	+	Silent	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr3:75476735C>T	uc003dpp.4	-	5	689	c.330G>A	c.(328-330)gaG>gaA	p.E110E	FAM86DP_uc003dps.4_Intron|FAM86DP_uc003dpq.4_Silent_p.E18E|FAM86DP_uc003dpr.4_Intron					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.									p.E194E(3)									CTCGGAGCTGCTCGAGGACCC	0.602000													4	45					0	0	1	0	0
CALM1	801	broad.mit.edu	37	14	90870815	90870815	+	Silent	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:90870815C>T	uc001xyl.2	+	4	626	c.378C>T	c.(376-378)atC>atT	p.I126I	CALM1_uc010atq.2_Silent_p.I127I|CALM1_uc001xym.2_Silent_p.I90I	NM_006888	NP_005175	P62158	CALM_HUMAN	Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), transcript variant 1, mRNA.	126	EF-hand 4.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	N-terminal myristoylation domain binding|calcium ion binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	ATGAAATGATCAGAGAAGCAG	0.388000													34	89					0	0	1	0	0
FBXO33	254170	broad.mit.edu	37	14	39871674	39871674	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:39871674A>G	uc001wvk.3	-	1	979	c.641T>C	c.(640-642)cTa>cCa	p.L214P		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	Homo sapiens F-box protein 33 (FBXO33), mRNA.	214								p.V213A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TTGCTGTTGTAGAACACTTAT	0.308000													5	9					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49920441	49920441	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:49920441G>A	uc002pnm.2	+	18	1670	c.1465G>A	c.(1465-1467)Gcc>Acc	p.A489T	CCDC155_uc010emx.2_Missense_Mutation_p.A460T	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	489						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACTCCAGCAAGCCCTGGTGCC	0.652000													15	21					0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88412007	88412007	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:88412007A>C	uc001xvt.3	-	13	1667	c.1560T>G	c.(1558-1560)atT>atG	p.I520M	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Missense_Mutation_p.I497M|GALC_uc010tvx.2_Missense_Mutation_p.I494M|GALC_uc010tvz.1_Missense_Mutation_p.I464M	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	520					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGGTCTTCAATATTTGTAA	0.398000													10	26					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098806	178098806	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:178098806G>T	uc002ulh.4	-	1	794	c.239C>A	c.(238-240)aCa>aAa	p.T80K	NFE2L2_uc002ulg.4_Missense_Mutation_p.T64K|NFE2L2_uc010zfa.2_Missense_Mutation_p.T64K|NFE2L2_uc002uli.4_Missense_Mutation_p.T64K|NFE2L2_uc010fra.3_Missense_Mutation_p.T64K|NFE2L2_uc010frb.3_Missense_Mutation_p.T64K	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	80					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79Q(10)|p.E79K(10)|p.T80K(6)|p.T80P(5)|p.T80R(4)|p.T80I(2)|p.E79_T80insE(1)|p.E79G(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATTCACCTGTCTCTTCATC	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			16	35					5.35267e-07	5.65004e-07	1	1	0
SUGP1	57794	broad.mit.edu	37	19	19427332	19427332	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:19427332C>G	uc002nmh.3	-	1	121	c.105G>C	c.(103-105)caG>caC	p.Q35H	SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	35					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TGAGCTCTTCCTGGTGAAGGA	0.517000													27	51					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30038228	30038228	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr22:30038228C>A	uc003age.4	+	3	844	c.401C>A	c.(400-402)cCt>cAt	p.P134H	NF2_uc003afy.4_Missense_Mutation_p.P134H|NF2_uc003afz.4_Missense_Mutation_p.P51H|NF2_uc003agf.4_Missense_Mutation_p.P134H|NF2_uc003agb.4_Missense_Mutation_p.P57H|NF2_uc003agc.4_Missense_Mutation_p.P96H|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Missense_Mutation_p.P134H|NF2_uc003aga.4_Missense_Mutation_p.P92H|NF2_uc003agh.4_Missense_Mutation_p.P93H|NF2_uc003agi.4_Missense_Mutation_p.P51H|NF2_uc003agj.4_Missense_Mutation_p.P134H	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	134	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(10)|p.?(3)|p.L127_P134del(2)|p.K123fs*2(1)|p.P134fs*40(1)|p.V110_L141del(1)|p.L127_D382del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ATCTACTGCCCTCCTGAGGCT	0.473000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				13	21					8.00594e-06	8.25419e-06	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238259816	238259816	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:238259816C>G	uc002vwl.2	-	26	7058	c.6773G>C	c.(6772-6774)gGt>gCt	p.G2258A	COL6A3_uc002vwo.2_Missense_Mutation_p.G2052A|COL6A3_uc010znj.1_Missense_Mutation_p.G1651A|COL6A3_uc002vwp.1_Missense_Mutation_p.G79A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2258	Collagen-like 4.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCAGGAGCACCAGCGGCACC	0.572000													25	49					0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042282	90042282	+	Missense_Mutation	SNP	A	A	T	rs76988207	byFrequency	TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr7:90042282A>T	uc003ukp.3	+	4	928	c.292A>T	c.(292-294)Atg>Ttg	p.M98L	CLDN12_uc003ukq.3_Missense_Mutation_p.M98L|CLDN12_uc010leq.3_Missense_Mutation_p.M98L|CLDN12_uc003uks.3_Missense_Mutation_p.M98L|CLDN12_uc003ukr.3_Missense_Mutation_p.M98L|CLDN12_uc022ahd.1_Missense_Mutation_p.M98L	NM_012129	NP_036261	P56749	CLD12_HUMAN	Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA.	98					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						GCTGATCGCCATGGGTGCCCT	0.557000													49	188					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49293279	49293279	+	Silent	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr15:49293279A>C	uc001zxe.2	-	14	2307	c.2043T>G	c.(2041-2043)gtT>gtG	p.V681V	SECISBP2L_uc001zxd.2_Silent_p.V636V|SECISBP2L_uc010bep.2_Silent_p.V443V	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	681										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTTTACAAAGAACCTGATTAC	0.338000													13	24					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25981205	25981205	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr15:25981205G>A	uc010ayu.3	-	2	844	c.738C>T	c.(736-738)tgC>tgT	p.C246C		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	246					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATACTCACATGCAGCCGCGAA	0.448000													31	51					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119798692	119798692	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr10:119798692C>A	uc001ldj.2	-	2	1496	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	RAB11FIP2_uc009xyz.2_Missense_Mutation_p.E352D	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	352					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TCTCCCTTTTCTCTCTTTTAT	0.353000													16	35					1.52009e-12	1.69893e-12	1	1	0
ARL2	402	broad.mit.edu	37	11	64789247	64789247	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr11:64789247G>A	uc001och.4	+	4	570	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ARL2_uc021qlc.1_Missense_Mutation_p.A132T|SNX15_uc001oci.4_Intron	NM_001667	NP_001658	P36404	ARL2_HUMAN	Homo sapiens ADP-ribosylation factor-like 2 (ARL2), transcript variant 1, mRNA.	159					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding	p.A159T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGGCTGCAGCGCCGTCACCGG	0.627000													7	9					0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256621	7256621	+	Silent	SNP	C	C	T	rs79616684		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr17:7256621C>T	uc002gge.4	+	0	1414	c.360C>T	c.(358-360)gaC>gaT	p.D120D	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	120					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TCCAGGTGGACACCTTCCGAG	0.627000													13	36					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011381	78011381	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chrX:78011381C>T	uc022bzj.1	+	0	1015	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	LPAR4_uc010nme.3_Missense_Mutation_p.P339S	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	339						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GACTGAAACACCTTTGACCAC	0.403000													37	16					0	0	1	0	0
VHLL	391104	broad.mit.edu	37	1	156268771	156268771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:156268771C>T	uc001fok.3	-	0	658	c.210G>A	c.(208-210)tgG>tgA	p.W70*		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	70	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					AGTAGTTGAGCCACACAGGCA	0.597000													16	40					0	0	1	0	0
ARL2BP	23568	broad.mit.edu	37	16	57283687	57283687	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr16:57283687G>T	uc002elf.1	+	3	458	c.216G>T	c.(214-216)ttG>ttT	p.L72F	ARL2BP_uc010vhl.2_Missense_Mutation_p.L72F	NM_012106	NP_036238	Q9Y2Y0	AR2BP_HUMAN	Homo sapiens ADP-ribosylation factor-like 2 binding protein (ARL2BP), mRNA.	72					maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						AGATTTCTTTGGTAGAAAAAT	0.423000													7	31					0.0293803	0.0296029	1	1	0
ADH4	127	broad.mit.edu	37	4	100057629	100057629	+	Silent	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:100057629G>T	uc003hun.3	-	4	646	c.570C>A	c.(568-570)atC>atA	p.I190I	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Silent_p.I209I	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	190					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TGGCATTGTTGATTGCAGCCC	0.388000													12	27					9.05144e-12	1.0032e-11	1	1	0
LRCH3	84859	broad.mit.edu	37	3	197592302	197592302	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr3:197592302C>G	uc011bul.1	+	15	1730	c.1725C>G	c.(1723-1725)gaC>gaG	p.D575E	LRCH3_uc003fyj.1_Missense_Mutation_p.D575E|LRCH3_uc011bum.1_Missense_Mutation_p.D523E|LRCH3_uc011bun.1_Missense_Mutation_p.D421E|LRCH3_uc003fyk.2_Missense_Mutation_p.D170E	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	575						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGAGTGATGACAGACCTAATG	0.274000													26	71					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123109188	123109188	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:123109188A>T	uc003ieh.3	+	6	811	c.766A>T	c.(766-768)Aat>Tat	p.N256Y	KIAA1109_uc003iei.1_Missense_Mutation_p.N10Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	256					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAGCTTGAAAATGTTCGAGT	0.313000													3	10					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848746	166848746	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:166848746A>T	uc002udo.4	-	27	5266	c.5039T>A	c.(5038-5040)gTc>gAc	p.V1680D	SCN1A_uc010fpk.3_Missense_Mutation_p.V1652D|SCN1A_uc021vsb.1_Missense_Mutation_p.V1669D	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1680						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GATGAACATGACTAGGAAGAG	0.478000													73	155					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673886	125673886	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:125673886T>C	uc004bnh.3	-	1	555	c.466A>G	c.(466-468)Aat>Gat	p.N156D	ZBTB6_uc022bnb.1_Missense_Mutation_p.N156D	NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	Homo sapiens zinc finger and BTB domain containing 6 (ZBTB6), mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TTATCAGAATTTTCATCTTCA	0.338000													6	16					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53995548	53995548	+	Silent	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:53995548C>T	uc001cvr.1	-	3	1440	c.873G>A	c.(871-873)ccG>ccA	p.P291P		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	291					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCACAGGTACGGCTTCTCGC	0.637000													22	17					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202866048	202866048	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:202866048G>A	uc001gyo.1	-	6	1073	c.873C>T	c.(871-873)agC>agT	p.S291S	KLHL12_uc001gym.1_Silent_p.S24S|KLHL12_uc001gyn.1_Silent_p.S141S|KLHL12_uc010pqc.1_Silent_p.S329S|KLHL12_uc009xah.1_Intron	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	291					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGACTGCTGGCTTCCAAAGC	0.473000													38	55					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50285918	50285918	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:50285918A>G	uc002ppn.3	+	3	621	c.410A>G	c.(409-411)aAc>aGc	p.N137S	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.3_Missense_Mutation_p.N137S	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	137					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCATCGCCAACGTGGGCAGC	0.657000													8	16					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112361757	112361757	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr10:112361757T>A	uc001kze.3	+	24	3052	c.2926T>A	c.(2926-2928)Tta>Ata	p.L976I		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	976					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CAACACAGAATTAAAGAAGTA	0.303000													9	36					0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116441541	116441541	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:116441541G>T	uc003pwm.3	-	2	1834	c.1738C>A	c.(1738-1740)Cag>Aag	p.Q580K	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	580	C1q.|Nonhelical region (NC1).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCATAATGCTGTTGCCTGTTA	0.398000													17	51					0.000132079	0.000135127	1	1	0
GNL2	29889	broad.mit.edu	37	1	38042060	38042060	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:38042060C>T	uc001cbk.3	-	8	1170	c.1007G>A	c.(1006-1008)tGc>tAc	p.C336Y	GNL2_uc010oif.1_Missense_Mutation_p.C177Y	NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	336	G.				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGCCACGTTGCAAACTTTCTT	0.423000													18	37					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15512476	15512476	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:15512476T>C	uc003nbj.3	+	13	3234	c.2990T>C	c.(2989-2991)gTg>gCg	p.V997A	JARID2_uc011div.2_Missense_Mutation_p.V825A	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	997	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGGATCAAGGTGCACAGGACC	0.612000													31	68					0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207271520	207271520	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:207271520C>A	uc009xcd.3	+	5	1002	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	C4BPB_uc001hfi.3_Missense_Mutation_p.Q176K|C4BPB_uc001hfj.3_Missense_Mutation_p.Q177K|C4BPB_uc001hfl.3_Missense_Mutation_p.Q177K|C4BPB_uc001hfk.3_Missense_Mutation_p.Q176K|C4BPB_uc001hfm.3_Missense_Mutation_p.Q177K	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	177					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						CGTGCAGGAGCAGCAATGCGT	0.478000													22	47					5.35356e-11	5.88449e-11	1	1	0
CHPF	79586	broad.mit.edu	37	2	220404816	220404816	+	Silent	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:220404816A>T	uc002vmc.4	-	3	1844	c.1617T>A	c.(1615-1617)gcT>gcA	p.A539A	CHPF_uc010zlh.2_Silent_p.A377A	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	539	Ala-rich.					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGCTGCCGCAGCATCACCAG	0.657000													7	8					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124989660	124989660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr8:124989660C>T	uc003yqw.3	+	9	1080	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	292	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTTAGGGGCGAACCACAGT	0.478000													40	68					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88053423	88053423	+	Splice_Site	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr4:88053423C>T	uc011ccz.2	+	19	3449	c.3174_splice	c.e19-1	p.C1058_splice	AFF1_uc003hqj.4_Splice_Site_p.C1051_splice|AFF1_uc003hqk.4_Splice_Site_p.C1051_splice|AFF1_uc011cda.2_Splice_Site_p.C689_splice	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	1051						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTGTTCATAGCATGCGTTGCC	0.393000													28	64					0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91963940	91963940	+	RNA	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:91963940T>C	uc010fho.1	+	0		c.573T>C								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		GGCCTGACCCTGCTCCTTACC	0.602000													24	49					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12858616	12858616	+	Silent	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:12858616C>A	uc002rbv.4	+	0	1619	c.183C>A	c.(181-183)atC>atA	p.I61I	TRIB2_uc010yjp.2_Intron	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.	61	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTCTTGTATCGGGAAATACT	0.577000											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	36					1.38267e-23	1.61311e-23	1	1	0
CRB1	23418	broad.mit.edu	37	1	197237545	197237545	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:197237545G>T	uc001gtz.3	+	0	212	c.3G>T	c.(1-3)atG>atT	p.M1I	CRB1_uc010poz.2_Intron|CRB1_uc001gty.2_Missense_Mutation_p.M1I|CRB1_uc009wza.3_Missense_Mutation_p.M1I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.M1I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATAAGACCATGGCACTTAAGA	0.478000													20	37					7.87624e-14	8.87746e-14	1	1	0
FAM13B	51306	broad.mit.edu	37	5	137346798	137346798	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr5:137346798C>G	uc003lbz.2	-	5	1123	c.589G>C	c.(589-591)Gtg>Ctg	p.V197L	FAM13B_uc003lcb.2_Missense_Mutation_p.V79L|FAM13B_uc003lca.2_Missense_Mutation_p.V197L	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	197	Glu-rich.|Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ATCCTGCTCACTATTTCTTGC	0.338000													11	10					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100227199	100227199	+	Silent	SNP	T	T	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr9:100227199T>G	uc004axj.3	+	7	1743	c.1518T>G	c.(1516-1518)ccT>ccG	p.P506P	TDRD7_uc011lux.2_Silent_p.P432P	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	506					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTAAGAATCCTAAGATCACAC	0.458000													26	74					0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141316790	141316790	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr5:141316790A>C	uc003lls.3	+	10	1299	c.1177A>C	c.(1177-1179)Att>Ctt	p.I393L	KIAA0141_uc003llt.3_Missense_Mutation_p.I393L	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	393					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTTGGAATTTGCTATGA	0.517000													20	50					0	0	1	0	0
JAG1	182	broad.mit.edu	37	20	10639160	10639160	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr20:10639160T>G	uc002wnw.2	-	3	1166	c.650A>C	c.(649-651)aAc>aCc	p.N217T		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	217	DSL.				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAAGTTTTGTTGCCATTCTG	0.493000									Alagille Syndrome				22	29					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42160014	42160014	+	Missense_Mutation	SNP	G	G	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr17:42160014G>C	uc002iff.1	-	19	2881	c.2549C>G	c.(2548-2550)gCc>gGc	p.A850G	HDAC5_uc002ifd.1_Missense_Mutation_p.A849G|HDAC5_uc002ife.1_Missense_Mutation_p.A849G|HDAC5_uc010czp.1_Missense_Mutation_p.A764G|HDAC5_uc002ifg.1_Missense_Mutation_p.A159G|HDAC5_uc002ifh.2_Missense_Mutation_p.A849G	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	849	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGCGGTGATGGCTACAGAGTT	0.592000													37	98					0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38447445	38447445	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr17:38447445A>G	uc002huj.1	+	2	524	c.314A>G	c.(313-315)aAg>aGg	p.K105R		NM_001254	NP_001245	Q99741	CDC6_HUMAN	Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA.	105					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTGACAATTAAGTCTCCTAGC	0.398000													10	93					0	0	1	0	0
TTR	7276	broad.mit.edu	37	18	29178601	29178601	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr18:29178601A>G	uc002kwx.4	+	3	543	c.407A>G	c.(406-408)tAt>tGt	p.Y136C		NM_000371	NP_000362	P02766	TTHY_HUMAN	Homo sapiens transthyretin (TTR), mRNA.	136	Thyroid hormone binding.		Y -> S (in AMYL-TTR; amyloid polyneuropathy).|Y -> V (requires 2 nucleotide substitutions).		transport	cytoplasm	hormone activity	p.S135F(2)|p.S135S(1)		cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	CCCTACTCCTATTCCACCACG	0.552000													15	50					0	0	1	0	0
SAMD13	148418	broad.mit.edu	37	1	84768963	84768963	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:84768963G>T	uc001djr.3	+	1	280	c.88G>T	c.(88-90)Gta>Tta	p.V30L	SAMD13_uc010orw.2_Missense_Mutation_p.V16L|SAMD13_uc010orx.2_Missense_Mutation_p.V16L	NM_001010971	NP_001128136	Q5VXD3	SAM13_HUMAN	Homo sapiens sterile alpha motif domain containing 13 (SAMD13), transcript variant 1, mRNA.	36										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CTCTGTCGGTGTAAAAAAGTA	0.408000													17	21					4.35082e-09	4.69612e-09	1	1	0
OR51E1	143503	broad.mit.edu	37	11	4674486	4674486	+	Missense_Mutation	SNP	G	G	A	rs148787592		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr11:4674486G>A	uc021qcq.1	+	0	730	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	OR51E1_uc001lzi.4_Missense_Mutation_p.V244I	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V243I(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACTTGCGTCTCTCATGT	0.498000													24	45					0	0	1	0	0
ABHD5	51099	broad.mit.edu	37	3	43744053	43744053	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr3:43744053T>C	uc003cmx.3	+	2	590	c.480T>C	c.(478-480)gcT>gcC	p.A160A		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	160					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		TCTTGGCTGCTGCTTACTCGC	0.468000													43	120					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30038229	30038229	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr22:30038229T>C	uc003age.4	+	3	845	c.402T>C	c.(400-402)ccT>ccC	p.P134P	NF2_uc003afy.4_Silent_p.P134P|NF2_uc003afz.4_Silent_p.P51P|NF2_uc003agf.4_Silent_p.P134P|NF2_uc003agb.4_Silent_p.P57P|NF2_uc003agc.4_Silent_p.P96P|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Silent_p.P134P|NF2_uc003aga.4_Silent_p.P92P|NF2_uc003agh.4_Silent_p.P93P|NF2_uc003agi.4_Silent_p.P51P|NF2_uc003agj.4_Silent_p.P134P	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	134	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(10)|p.?(3)|p.L127_P134del(2)|p.K123fs*2(1)|p.P134fs*40(1)|p.V110_L141del(1)|p.L127_D382del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TCTACTGCCCTCCTGAGGCTT	0.468000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				13	21					0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117078689	117078689	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:117078689T>C	uc001egm.3	-	2	647	c.526A>G	c.(526-528)Aag>Gag	p.K176E	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.K176E|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Missense_Mutation_p.K176E	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	176	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		TTTTCCATCTTAAAATATATA	0.353000													14	25					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62851117	62851117	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr20:62851117A>G	uc002yii.3	+	12	2387	c.2023A>G	c.(2023-2025)Aaa>Gaa	p.K675E	MYT1_uc002yih.3_Missense_Mutation_p.K377E|MYT1_uc002yij.3_Missense_Mutation_p.K334E	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	675					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GAGCATGCACAAACACCGCAA	0.557000													46	80					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88536460	88536460	+	Silent	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr4:88536460C>T	uc003hqu.3	+	4	2766	c.2646C>T	c.(2644-2646)agC>agT	p.S882S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	882	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.D881_S882insSSD(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gcagtgatagcagtgacagca	0.498000													12	133					0	0	1	0	0
BC012753	0	broad.mit.edu	37	GL000214.1	32611	32611	+	RNA	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chrGL000214.1:32611G>A	uc011mfm.2	+	1		c.820G>A								Homo sapiens cDNA clone IMAGE:3625232, partial cds.																		GTTTCCAAGAGCAACAGGAAA	0.413000													4	3					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111761412	111761412	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr9:111761412A>C	uc004bdo.1	-	1	308	c.266T>G	c.(265-267)aTa>aGa	p.I89R	CTNNAL1_uc004bdp.1_Missense_Mutation_p.I89R	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	89					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.A88T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTCATTGGCTATAGCTTCTCC	0.358000													9	30					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887898	97887898	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr3:97887898G>A	uc011bgu.2	+	0	355	c.355G>A	c.(355-357)Gca>Aca	p.A119T		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119T(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GGCAACAATGGCATATGATCG	0.383000													5	297					0	0	1	0	0
ZNF498	221785	broad.mit.edu	37	7	99219063	99219063	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr7:99219063T>A	uc003url.1	+	4	782	c.455T>A	c.(454-456)aTc>aAc	p.I152N	ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.3_Non-coding_Transcript|ZNF498_uc010lgf.1_Missense_Mutation_p.I152N|ZNF498_uc003uro.1_5'UTR	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	152					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAGCCAGGCATCCAGCTGGGG	0.592000													55	83					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210701	37210701	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr19:37210701C>T	uc010xtl.2	+	5	1297	c.1075C>T	c.(1075-1077)Cac>Tac	p.H359Y	ZNF567_uc002oeo.1_Missense_Mutation_p.H359Y|ZNF567_uc010xtk.1_Missense_Mutation_p.H359Y|ZNF567_uc002oep.4_Missense_Mutation_p.H328Y|ZNF567_uc002oeq.1_Missense_Mutation_p.H328Y	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCAGAGAACTCACACGGGAGA	0.453000													27	40					0	0	1	0	0
ZNF880	400713	broad.mit.edu	37	19	52887363	52887363	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr19:52887363C>T	uc002pzc.3	+	3	579	c.530C>T	c.(529-531)gCa>gTa	p.A177V	ZNF880_uc021uyu.1_Missense_Mutation_p.A177V|ZNF880_uc021uyv.1_5'Flank	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	177					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GAACAAAAAGCACAAATAAGG	0.343000													13	37					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99481633	99481633	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr13:99481633G>A	uc001vnt.2	-	42	4882	c.4827C>T	c.(4825-4827)agC>agT	p.S1609S	DOCK9_uc001vnw.2_Silent_p.S1608S|DOCK9_uc021rlw.1_Silent_p.S1608S|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.S1609S|DOCK9_uc001vnq.2_Silent_p.S181S|DOCK9_uc001vnr.2_Silent_p.S252S|DOCK9_uc010tin.1_Silent_p.S252S|DOCK9_uc001vns.2_Silent_p.S181S|DOCK9_uc010tio.1_Silent_p.S301S|DOCK9_uc010tip.1_Silent_p.S319S|DOCK9_uc001vnu.1_Silent_p.S181S|DOCK9_uc010tiq.1_Silent_p.S587S	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1609	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTCGGGCGTGCTGGCATAGG	0.582000													28	66					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890639	32890639	+	Missense_Mutation	SNP	T	T	C	rs79284655		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr16:32890639T>C	uc002edh.1	-	4	423	c.247A>G	c.(247-249)Aag>Gag	p.K83E	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		ACCAGCGGCTTGTAGTACACA	0.627000													3	48					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904781	37904781	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr19:37904781T>C	uc002ogj.3	-	8	1783	c.851A>G	c.(850-852)cAt>cGt	p.H284R	ZNF569_uc002ogh.3_Missense_Mutation_p.H101R|ZNF569_uc002ogi.3_Missense_Mutation_p.H260R	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCTTTGATGTCTAATGAG	0.313000													8	7					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43184050	43184050	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr6:43184050T>C	uc003ouk.3	+	30	6166	c.6091T>C	c.(6091-6093)Tcc>Ccc	p.S2031P	CUL9_uc003oul.3_Missense_Mutation_p.S2003P|CUL9_uc010jyk.3_Missense_Mutation_p.S1183P|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2031					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTTGGCTCATTCCCACTGGGG	0.602000													16	35					0	0	1	0	0
DTWD2	285605	broad.mit.edu	37	5	118183873	118183873	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr5:118183873C>T	uc003ksa.3	-	4	672	c.638G>A	c.(637-639)cGg>cAg	p.R213Q		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	213										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CGGCTGCATCCGAATTACATA	0.318000													28	66					0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117869943	117869943	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr11:117869943G>T	uc001prv.3	+	6	1401	c.1324G>T	c.(1324-1326)Gca>Tca	p.A442S	IL10RA_uc010rxl.2_Missense_Mutation_p.A422S|IL10RA_uc010rxm.2_Missense_Mutation_p.A422S|IL10RA_uc010rxn.2_Missense_Mutation_p.A293S|IL10RA_uc001prw.3_Missense_Mutation_p.A293S	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	442						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		AGCTGCTGTGGCATTCCAGGG	0.637000													16	41					3.52763e-06	3.66227e-06	1	1	0
DYRK1A	1859	broad.mit.edu	37	21	38884349	38884349	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr21:38884349G>A	uc002ywk.3	+	10	1883	c.1807G>A	c.(1807-1809)Ggt>Agt	p.G603S	DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_Missense_Mutation_p.G594S|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_Missense_Mutation_p.G364S	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	603					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCATCACCATGGTAACAGTTC	0.502000													37	73					0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187093141	187093141	+	Nonstop_Mutation	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr4:187093141A>T	uc003iyt.4	+	13	2028	c.1449A>T	c.(1447-1449)tgA>tgT	p.*483C	FAM149A_uc010isl.3_Nonstop_Mutation_p.*483C|FAM149A_uc011clb.2_Nonstop_Mutation_p.*482C	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	0										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TGACATCTTGAAACCACCTCA	0.423000													5	42					0	0	1	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762075	48762075	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chrX:48762075G>A	uc011mmm.1	-	4	1517	c.1195C>T	c.(1195-1197)Ccg>Tcg	p.P399S	SLC35A2_uc004dlo.1_Missense_Mutation_p.P371S|SLC35A2_uc011mml.1_Missense_Mutation_p.P384S|SLC35A2_uc004dlp.1_Missense_Mutation_p.P371S|SLC35A2_uc011mmn.1_Missense_Mutation_p.P310S|SLC35A2_uc004dlq.3_Missense_Mutation_p.T174I|SLC35A2_uc004dlr.1_3'UTR	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	371					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	UDP-galactose transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GACAGCTGCGGTGGTGGTGGC	0.652000													13	7					0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824279	74824279	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr14:74824279T>A	uc021rwl.1	+	0	793	c.793T>A	c.(793-795)Tca>Aca	p.S265T	VRTN_uc001xpw.4_Missense_Mutation_p.S265T	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	265					transposition, DNA-mediated		DNA binding|transposase activity	p.L264F(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GGCCCCACTCTCATCGCCGGC	0.637000													14	26					0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136393707	136393707	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr2:136393707G>T	uc002tuo.3	+	10	1227	c.857G>T	c.(856-858)aGa>aTa	p.R286I	R3HDM1_uc010fni.3_Missense_Mutation_p.R284I|R3HDM1_uc002tup.3_Missense_Mutation_p.R230I|R3HDM1_uc010zbh.2_Missense_Mutation_p.R118I	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	286							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATAGAAGAAAGAGAAGAAGAG	0.343000													19	44					6.21321e-17	7.22219e-17	1	1	0
WNK2	65268	broad.mit.edu	37	9	96079890	96079890	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr9:96079890C>T	uc004ati.1	+	28	6716	c.6716C>T	c.(6715-6717)cCg>cTg	p.P2239L	WNK2_uc011lud.1_Missense_Mutation_p.P2202L|WNK2_uc004atj.3_Missense_Mutation_p.P2202L|WNK2_uc004atk.3_Missense_Mutation_p.P1727L	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2239					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGAGCCGCCCCGACCCTGTCC	0.667000													5	7					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113684200	113684200	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr3:113684200G>A	uc003eax.3	-	16	2760	c.2613C>T	c.(2611-2613)atC>atT	p.I871I		NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	871										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGATCCAGAGGATCCTCCTTT	0.343000													3	11					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36294405	36294405	+	Silent	SNP	G	G	C	rs140796295		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr6:36294405G>C	uc003oly.3	-	4	1096	c.918C>G	c.(916-918)tcC>tcG	p.S306S		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	306										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						TGGCCTCCTCGGAGCCGTGTT	0.567000													16	33					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31294229	31294229	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr5:31294229C>A	uc003jhe.2	+	2	749	c.389C>A	c.(388-390)gCt>gAt	p.A130D	CDH6_uc003jhd.2_Missense_Mutation_p.A130D	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	130	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGAGCTCAAGCTATAAACAGA	0.458000													17	40					4.96729e-08	5.3193e-08	1	1	0
MAP3K9	4293	broad.mit.edu	37	14	71199898	71199898	+	Missense_Mutation	SNP	T	T	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr14:71199898T>G	uc001xmm.3	-	10	2188	c.2188A>C	c.(2188-2190)Acc>Ccc	p.T730P	MAP3K9_uc010ttk.2_Missense_Mutation_p.T458P|MAP3K9_uc001xmk.3_Missense_Mutation_p.T463P|MAP3K9_uc001xml.3_Missense_Mutation_p.T744P	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	730					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGCTGAGGGGTACTCGTGGCC	0.652000													3	11					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97887952	97887952	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr3:97887952A>G	uc011bgu.2	+	0	409	c.409A>G	c.(409-411)Acc>Gcc	p.T137A		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T137A(2)|p.T137T(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AGCCATTATGACCAATGGACT	0.378000													7	228					0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103552626	103552626	+	Silent	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr10:103552626A>G	uc001ktv.2	-	11	2588	c.2145T>C	c.(2143-2145)taT>taC	p.Y715Y	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Silent_p.Y662Y|MGEA5_uc009xws.2_Silent_p.Y648Y	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	715	Histone acetyltransferase activity (By similarity).|Required for histone H4 binding (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	p.Y715H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GTCTGATAGTATAAACTTTGG	0.413000													22	33					0	0	1	0	0
L2HGDH	79944	broad.mit.edu	37	14	50713788	50713788	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr14:50713788T>C	uc001wxu.3	-	9	1459	c.1380A>G	c.(1378-1380)agA>agG	p.R460R	L2HGDH_uc010tqn.2_Intron|L2HGDH_uc010tqo.1_Silent_p.R460R	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	460					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATAATTCAAATCTTTGTTGTA	0.328000													30	49					0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158828654	158828654	+	Silent	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr7:158828654T>C	uc003woh.3	-	7	984	c.798A>G	c.(796-798)ttA>ttG	p.L266L	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	266					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CGGTGTCTTCTAAGTAGAGCC	0.597000													54	63					0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69168646	69168646	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr3:69168646A>G	uc003dns.2	-	1	1069	c.860T>C	c.(859-861)tTc>tCc	p.F287S	LMOD3_uc003dnt.2_Missense_Mutation_p.F287S	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	287						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GGCTAAACTGAATGTTTTGAT	0.398000													3	58					0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213251150	213251150	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:213251150T>C	uc010ptr.2	+	2	413	c.254T>C	c.(253-255)aTa>aCa	p.I85T	RPS6KC1_uc001hkd.3_Missense_Mutation_p.I73T|RPS6KC1_uc010pts.2_5'UTR|RPS6KC1_uc010ptt.2_5'UTR|RPS6KC1_uc010ptu.2_Intron|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_5'UTR	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	85	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GCTAAAGGAATAGTGTTTGGT	0.279000													29	32					0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23328605	23328605	+	RNA	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr19:23328605A>G	uc002nrb.1	+	3		c.958A>G								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATACTGGAGAAAAACCCTACC	0.323000													3	2					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72182014	72182014	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr8:72182014G>A	uc003xyu.3	-	10	1651	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	EYA1_uc003xyt.4_Silent_p.H304H|EYA1_uc003xyr.4_Silent_p.H332H|EYA1_uc010lzf.3_Silent_p.H264H|EYA1_uc003xys.4_Silent_p.H337H|EYA1_uc011lfe.2_Silent_p.H331H|EYA1_uc003xyv.3_Silent_p.H215H	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	337					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.F336F(1)|p.H337Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TAAGCAAGGAGTGGAAAACAA	0.403000													26	57					0	0	1	0	0
PEX12	5193	broad.mit.edu	37	17	33904481	33904481	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr17:33904481A>C	uc002hjp.3	-	1	872	c.256T>G	c.(256-258)Ttt>Gtt	p.F86V		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	86					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGCCGTAAAAGTTTTCAGAA	0.423000													10	21					0	0	1	0	0
POGZ	23126	broad.mit.edu	37	1	151381040	151381040	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:151381040G>A	uc001eyd.2	-	13	2394	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	POGZ_uc021oyq.1_Silent_p.S640S|POGZ_uc010pdb.2_Silent_p.S684S|POGZ_uc010pdc.2_Silent_p.S631S|POGZ_uc009wmv.2_Silent_p.S598S|POGZ_uc001eyf.2_Silent_p.S649S|POGZ_uc010pdd.2_Silent_p.S184S	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	693					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCCCTCGGGAAGCCCGGA	0.532000													15	29					0	0	1	0	0
LOC100132247	100132247	broad.mit.edu	37	16	22545897	22545897	+	Missense_Mutation	SNP	G	G	T	rs143579045	by1000genomes	TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr16:22545897G>T	uc010bxg.3	+	8	1775	c.1593G>T	c.(1591-1593)aaG>aaT	p.K531N	LOC100132247_uc010vbv.2_Missense_Mutation_p.K531N|LOC100132247_uc021tew.1_Missense_Mutation_p.K531N|LOC100132247_uc010bxi.3_Missense_Mutation_p.K512N|LOC100132247_uc010bxk.3_Missense_Mutation_p.K348N|DQ576951_uc021tey.1_5'Flank|DQ576951_uc010vbx.1_5'Flank	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		ATAATATCAAGACACCTGCCG	0.597000													6	30					5.68852e-11	6.23903e-11	1	1	0
ZDHHC5	25921	broad.mit.edu	37	11	57466844	57466844	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr11:57466844G>A	uc001nkx.1	+	10	3192	c.1936G>A	c.(1936-1938)Gtc>Atc	p.V646I	ZDHHC5_uc001nky.1_Missense_Mutation_p.V593I|ZDHHC5_uc001nkz.1_Missense_Mutation_p.V460I	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	646						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCAACCTGGTGTCTCTGAGAC	0.527000													11	15					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32029470	32029470	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr6:32029470G>T	uc003nzl.2	-	20	7398	c.7196C>A	c.(7195-7197)aCa>aAa	p.T2399K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2459	Fibronectin type-III 16.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGGGTTCTGTGGGGCTGGG	0.637000													2	13					1	1	1	1	0
BTN2A1	11120	broad.mit.edu	37	6	26458834	26458834	+	Splice_Site	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr6:26458834G>A	uc003nib.2	+	2	219	c.-29_splice	c.e2-1		BTN2A1_uc021yni.1_Splice_Site|BTN2A1_uc003nic.2_Splice_Site|BTN2A1_uc011dko.2_Intron	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.						lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGTAACCCTAGGCCTCCTGTC	0.617000													21	40					0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65739904	65739904	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr17:65739904G>A	uc002jgd.1	+	17	2092	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	NOL11_uc010wql.1_Missense_Mutation_p.E515K|NOL11_uc010deu.1_Missense_Mutation_p.E292K	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	697						nucleolus		p.R696L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGTTTTCGGGAGCTACAGAA	0.299000													6	20					0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44450334	44450334	+	Silent	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr4:44450334A>T	uc003gwu.3	-	0	491	c.207T>A	c.(205-207)acT>acA	p.T69T		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	69	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T69N(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TGCTGGCCAAAGTACTGTCCG	0.677000										HNSCC(17;0.042)			11	11					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6536187	6536187	+	Silent	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr9:6536187C>A	uc003zkc.3	-	22	2908	c.2715G>T	c.(2713-2715)gtG>gtT	p.V905V		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	905					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGTGGGCTCCACCATGAGGG	0.577000													3	104					1.024e-07	1.088e-07	1	1	0
USP32	84669	broad.mit.edu	37	17	58288852	58288852	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr17:58288852C>A	uc002iyo.1	-	19	2489	c.2203G>T	c.(2203-2205)Ggt>Tgt	p.G735C	USP32_uc002iyn.1_Missense_Mutation_p.G405C	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	735					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTGCTTAGACCTGTGGCTCCC	0.413000													51	109					3.57465e-26	4.22741e-26	1	1	0
LGALS3BP	3959	broad.mit.edu	37	17	76967786	76967786	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr17:76967786T>C	uc002jwh.3	-	5	1809	c.1630A>G	c.(1630-1632)Att>Gtt	p.I544V	LGALS3BP_uc002jwi.3_Missense_Mutation_p.I350V	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	544					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCACTGGGAATCGCAGCCTTC	0.612000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	45					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021617	16021617	+	Silent	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr8:16021617A>G	uc010lsu.3	-	4	892	c.828T>C	c.(826-828)gaT>gaC	p.D276D	MSR1_uc003wwz.3_Silent_p.D258D|MSR1_uc003wxa.3_Silent_p.D258D|MSR1_uc003wxb.3_Silent_p.D258D|MSR1_uc011kxz.2_Silent_p.D32D	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	258	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.P275A(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AATGTTCCCAATCTTTCAGTC	0.303000													10	28					0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111761413	111761413	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr9:111761413T>C	uc004bdo.1	-	1	307	c.265A>G	c.(265-267)Ata>Gta	p.I89V	CTNNAL1_uc004bdp.1_Missense_Mutation_p.I89V	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	89					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.A88T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TCATTGGCTATAGCTTCTCCT	0.353000													9	30					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121769482	121769482	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr7:121769482G>A	uc003vka.3	-	1	416	c.320C>T	c.(319-321)gCa>gTa	p.A107V	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.A107V|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	107	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GGAGAAAAATGCATAAGTCTT	0.348000													13	20					0	0	1	0	0
FAM182A	284800	broad.mit.edu	37	20	26061817	26061817	+	RNA	SNP	T	T	C	rs139582789	by1000genomes	TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr20:26061817T>C	uc010gdq.3	+	3		c.878T>C								Homo sapiens family with sequence similarity 182, member A (FAM182A), non-coding RNA.									p.C57R(2)		breast(1)|endometrium(2)|kidney(1)	4						TGATTTCTCCTGCTTAGAAAT	0.468000													3	74					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144457751	144457751	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr4:144457751A>C	uc003ijg.3	+	10	1877	c.1415A>C	c.(1414-1416)tAt>tCt	p.Y472S		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	472					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GGTCCACCTTATACAACAGAT	0.398000													95	152					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805602	102805602	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr2:102805602G>A	uc002tbs.3	+	2	251	c.125G>A	c.(124-126)tGt>tAt	p.C42Y	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	42	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GCTTTTAATTGTACATTCCCT	0.358000													12	26					0	0	1	0	0
RABAC1	10567	broad.mit.edu	37	19	42461228	42461228	+	Silent	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr19:42461228G>T	uc002osf.3	-	3	495	c.411C>A	c.(409-411)ggC>ggA	p.G137G		NM_006423	NP_006414	Q9UI14	PRAF1_HUMAN	Homo sapiens Rab acceptor 1 (prenylated) (RABAC1), mRNA.	137						Golgi apparatus|cell junction|integral to membrane|synaptic vesicle	identical protein binding			central_nervous_system(1)|kidney(1)|prostate(1)	3						GGAAGGAGATGCCTCCAGCCA	0.642000													38	66					6.34439e-16	7.31218e-16	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47511190	47511190	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr18:47511190C>A	uc002leb.2	-	7	1132	c.844G>T	c.(844-846)Gca>Tca	p.A282S	MYO5B_uc021ukb.1_Missense_Mutation_p.A281S	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	282	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AAGTCCTCTGCACTTGCTGTG	0.502000													3	98					0.014758	0.0149783	1	1	0
FAM71B	153745	broad.mit.edu	37	5	156590131	156590131	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr5:156590131G>A	uc003lwn.3	-	1	1245	c.1145C>T	c.(1144-1146)aCc>aTc	p.T382I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	382						nucleus		p.T382N(2)|p.T381T(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACACTTGCTGGTCGTAATACT	0.572000													9	31					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37210700	37210700	+	Silent	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr19:37210700T>A	uc010xtl.2	+	5	1296	c.1074T>A	c.(1072-1074)acT>acA	p.T358T	ZNF567_uc002oeo.1_Silent_p.T358T|ZNF567_uc010xtk.1_Silent_p.T358T|ZNF567_uc002oep.4_Silent_p.T327T|ZNF567_uc002oeq.1_Silent_p.T327T	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCAGAGAACTCACACGGGAG	0.453000													28	41					0	0	1	0	0
GOLGA6L1	283767	broad.mit.edu	37	15	22743174	22743174	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr15:22743174G>A	uc010tzx.1	+	7	1650	c.1559G>A	c.(1558-1560)aGg>aAg	p.R520K	abParts_uc001yuj.2_Intron|DQ579907_uc010tzy.1_5'Flank	NM_001001413	NP_001001413			Homo sapiens golgin A6 family-like 1 (GOLGA6L1), mRNA.											NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						aagatgtggaggcaggaggag	0.547000													4	39					0	0	1	0	0
C18orf21	83608	broad.mit.edu	37	18	33558958	33558958	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr18:33558958C>G	uc002kzc.3	+	4	756	c.652C>G	c.(652-654)Ctt>Gtt	p.L218V	C18orf21_uc002kzd.3_Missense_Mutation_p.L130V|C18orf21_uc021uit.1_3'UTR|C18orf21_uc021uiu.1_Missense_Mutation_p.L130V	NM_031446	NP_001188404	Q32NC0	CR021_HUMAN	Homo sapiens chromosome 18 open reading frame 21 (C18orf21), transcript variant 1, mRNA.	218										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GAAGGGTGGACTTTTAAAATA	0.308000													15	25					0	0	1	0	0
RG9MTD1	54931	broad.mit.edu	37	3	101284214	101284214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr3:101284214C>T	uc003duz.3	+	1	737	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	RG9MTD1_uc021xbw.1_Nonsense_Mutation_p.Q197*	NM_017819	NP_060289	Q7L0Y3	MRRP1_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA.	197					tRNA processing	mitochondrion	methyltransferase activity|protein binding	p.A196V(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	16						GAAGGGTGCCCAGGCCATGCA	0.398000													12	26					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60908164	60908164	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr20:60908164G>A	uc002ycq.3	-	25	3331	c.3264C>T	c.(3262-3264)atC>atT	p.I1088I	LAMA5_uc021wfw.1_Silent_p.I1088I|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1088	Domain IV 1 (domain IV B).				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)	CCGTGCAGGTGATCAGTGGCG	0.716000													8	7					0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325212	47325212	+	RNA	SNP	G	G	A	rs111656248	by1000genomes	TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:47325212G>A	uc001cqo.1	-	8		c.1356C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AATAAGAATGGCCCTAGGTTC	0.393000													3	33					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325026	79325026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr9:79325026G>A	uc010mpk.3	-	7	2288	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*	PRUNE2_uc022bih.1_Nonsense_Mutation_p.Q544*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	722					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGTTCAGGCTGACCAAATTCA	0.458000													30	27					0	0	1	0	0
KDM1A	23028	broad.mit.edu	37	1	23383993	23383993	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:23383993G>A	uc001bgi.2	+	6	1096	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	KDM1A_uc001bgj.2_Missense_Mutation_p.R336Q	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	316	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GTGGGTGGACGAGTTGCCACA	0.428000													3	78					0	0	1	0	0
ILKAP	80895	broad.mit.edu	37	2	239093869	239093869	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr2:239093869A>G	uc002vxv.3	-	5	615	c.485T>C	c.(484-486)tTt>tCt	p.F162S	ILKAP_uc010zns.2_Missense_Mutation_p.F94S|ILKAP_uc002vxw.3_Missense_Mutation_p.F42S|ILKAP_uc021vyt.1_Intron|ILKAP_uc021vyu.1_Intron|ILKAP_uc010znt.1_Missense_Mutation_p.F42S	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	162	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGTGCAGCAAATTTTGAGGC	0.353000													26	66					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223286361	223286361	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:223286361G>A	uc021pjl.1	-	0	13	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	TLR5_uc001hnv.2_Silent_p.L5L|TLR5_uc001hnw.2_Silent_p.L5L	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	5					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGAAGGTCCAGGTGGTCTCCC	0.498000													46	75					0	0	1	0	0
CALM1	801	broad.mit.edu	37	14	90870815	90870815	+	Silent	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr14:90870815C>T	uc001xyl.2	+	4	626	c.378C>T	c.(376-378)atC>atT	p.I126I	CALM1_uc010atq.2_Silent_p.I127I|CALM1_uc001xym.2_Silent_p.I90I	NM_006888	NP_005175	P62158	CALM_HUMAN	Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), transcript variant 1, mRNA.	126	EF-hand 4.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	N-terminal myristoylation domain binding|calcium ion binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	ATGAAATGATCAGAGAAGCAG	0.388000													34	89					0	0	1	0	0
FBXO33	254170	broad.mit.edu	37	14	39871674	39871674	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr14:39871674A>G	uc001wvk.3	-	1	979	c.641T>C	c.(640-642)cTa>cCa	p.L214P		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	Homo sapiens F-box protein 33 (FBXO33), mRNA.	214								p.V213A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		TTGCTGTTGTAGAACACTTAT	0.308000													5	9					0	0	1	0	0
CCDC155	147872	broad.mit.edu	37	19	49920441	49920441	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr19:49920441G>A	uc002pnm.2	+	18	1670	c.1465G>A	c.(1465-1467)Gcc>Acc	p.A489T	CCDC155_uc010emx.2_Missense_Mutation_p.A460T	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	489						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						ACTCCAGCAAGCCCTGGTGCC	0.652000													15	21					0	0	1	0	0
GALC	2581	broad.mit.edu	37	14	88412007	88412007	+	Missense_Mutation	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr14:88412007A>C	uc001xvt.3	-	13	1667	c.1560T>G	c.(1558-1560)atT>atG	p.I520M	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Missense_Mutation_p.I497M|GALC_uc010tvx.2_Missense_Mutation_p.I494M|GALC_uc010tvz.1_Missense_Mutation_p.I464M	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	520					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGGTCTTCAATATTTGTAA	0.398000													10	26					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098806	178098806	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr2:178098806G>T	uc002ulh.4	-	1	794	c.239C>A	c.(238-240)aCa>aAa	p.T80K	NFE2L2_uc002ulg.4_Missense_Mutation_p.T64K|NFE2L2_uc010zfa.2_Missense_Mutation_p.T64K|NFE2L2_uc002uli.4_Missense_Mutation_p.T64K|NFE2L2_uc010fra.3_Missense_Mutation_p.T64K|NFE2L2_uc010frb.3_Missense_Mutation_p.T64K	NM_006164	NP_001138884	Q16236	NF2L2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 2 (NFE2L2), transcript variant 1, mRNA.	80					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E79Q(10)|p.E79K(10)|p.T80K(6)|p.T80P(5)|p.T80R(4)|p.T80I(2)|p.E79_T80insE(1)|p.E79G(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATTCACCTGTCTCTTCATC	0.443000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			16	35					5.35267e-07	5.64312e-07	1	1	0
SUGP1	57794	broad.mit.edu	37	19	19427332	19427332	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr19:19427332C>G	uc002nmh.3	-	1	121	c.105G>C	c.(103-105)caG>caC	p.Q35H	SUGP1_uc002nmi.3_5'UTR|SUGP1_uc002nmj.3_5'UTR|SUGP1_uc010xqr.2_Non-coding_Transcript|SUGP1_uc010xqs.2_Non-coding_Transcript	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	35					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TGAGCTCTTCCTGGTGAAGGA	0.517000													27	51					0	0	1	0	0
NF2	4771	broad.mit.edu	37	22	30038228	30038228	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr22:30038228C>A	uc003age.4	+	3	844	c.401C>A	c.(400-402)cCt>cAt	p.P134H	NF2_uc003afy.4_Missense_Mutation_p.P134H|NF2_uc003afz.4_Missense_Mutation_p.P51H|NF2_uc003agf.4_Missense_Mutation_p.P134H|NF2_uc003agb.4_Missense_Mutation_p.P57H|NF2_uc003agc.4_Missense_Mutation_p.P96H|NF2_uc003agd.4_Non-coding_Transcript|NF2_uc003agg.4_Missense_Mutation_p.P134H|NF2_uc003aga.4_Missense_Mutation_p.P92H|NF2_uc003agh.4_Missense_Mutation_p.P93H|NF2_uc003agi.4_Missense_Mutation_p.P51H|NF2_uc003agj.4_Missense_Mutation_p.P134H	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	134	FERM.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.V122_K149del(10)|p.?(3)|p.L127_P134del(2)|p.K123fs*2(1)|p.P134fs*40(1)|p.V110_L141del(1)|p.L127_D382del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ATCTACTGCCCTCCTGAGGCT	0.473000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				13	21					8.00594e-06	8.24854e-06	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238259816	238259816	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr2:238259816C>G	uc002vwl.2	-	26	7058	c.6773G>C	c.(6772-6774)gGt>gCt	p.G2258A	COL6A3_uc002vwo.2_Missense_Mutation_p.G2052A|COL6A3_uc010znj.1_Missense_Mutation_p.G1651A|COL6A3_uc002vwp.1_Missense_Mutation_p.G79A	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2258	Collagen-like 4.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCCAGGAGCACCAGCGGCACC	0.572000													25	49					0	0	1	0	0
CLDN12	9069	broad.mit.edu	37	7	90042282	90042282	+	Missense_Mutation	SNP	A	A	T	rs76988207	byFrequency	TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr7:90042282A>T	uc003ukp.3	+	4	928	c.292A>T	c.(292-294)Atg>Ttg	p.M98L	CLDN12_uc003ukq.3_Missense_Mutation_p.M98L|CLDN12_uc010leq.3_Missense_Mutation_p.M98L|CLDN12_uc003uks.3_Missense_Mutation_p.M98L|CLDN12_uc003ukr.3_Missense_Mutation_p.M98L|CLDN12_uc022ahd.1_Missense_Mutation_p.M98L	NM_012129	NP_036261	P56749	CLD12_HUMAN	Homo sapiens claudin 12 (CLDN12), transcript variant 3, mRNA.	98					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						GCTGATCGCCATGGGTGCCCT	0.557000													49	188					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49293279	49293279	+	Silent	SNP	A	A	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr15:49293279A>C	uc001zxe.2	-	14	2307	c.2043T>G	c.(2041-2043)gtT>gtG	p.V681V	SECISBP2L_uc001zxd.2_Silent_p.V636V|SECISBP2L_uc010bep.2_Silent_p.V443V	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	681										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTTTACAAAGAACCTGATTAC	0.338000													13	24					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25981205	25981205	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr15:25981205G>A	uc010ayu.3	-	2	844	c.738C>T	c.(736-738)tgC>tgT	p.C246C		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	246					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATACTCACATGCAGCCGCGAA	0.448000													31	51					0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119798692	119798692	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr10:119798692C>A	uc001ldj.2	-	2	1496	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	RAB11FIP2_uc009xyz.2_Missense_Mutation_p.E352D	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	352					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TCTCCCTTTTCTCTCTTTTAT	0.353000													16	35					1.52009e-12	1.70853e-12	1	1	0
ARL2	402	broad.mit.edu	37	11	64789247	64789247	+	Missense_Mutation	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr11:64789247G>A	uc001och.4	+	4	570	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ARL2_uc021qlc.1_Missense_Mutation_p.A132T|SNX15_uc001oci.4_Intron	NM_001667	NP_001658	P36404	ARL2_HUMAN	Homo sapiens ADP-ribosylation factor-like 2 (ARL2), transcript variant 1, mRNA.	159					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding	p.A159T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGGCTGCAGCGCCGTCACCGG	0.627000													7	9					0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256621	7256621	+	Silent	SNP	C	C	T	rs79616684		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr17:7256621C>T	uc002gge.4	+	0	1414	c.360C>T	c.(358-360)gaC>gaT	p.D120D	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	120					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TCCAGGTGGACACCTTCCGAG	0.627000													13	36					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011381	78011381	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chrX:78011381C>T	uc022bzj.1	+	0	1015	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	LPAR4_uc010nme.3_Missense_Mutation_p.P339S	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	339						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						GACTGAAACACCTTTGACCAC	0.403000													37	16					0	0	1	0	0
VHLL	391104	broad.mit.edu	37	1	156268771	156268771	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:156268771C>T	uc001fok.3	-	0	658	c.210G>A	c.(208-210)tgG>tgA	p.W70*		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	70	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					AGTAGTTGAGCCACACAGGCA	0.597000													16	40					0	0	1	0	0
ARL2BP	23568	broad.mit.edu	37	16	57283687	57283687	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr16:57283687G>T	uc002elf.1	+	3	458	c.216G>T	c.(214-216)ttG>ttT	p.L72F	ARL2BP_uc010vhl.2_Missense_Mutation_p.L72F	NM_012106	NP_036238	Q9Y2Y0	AR2BP_HUMAN	Homo sapiens ADP-ribosylation factor-like 2 binding protein (ARL2BP), mRNA.	72					maintenance of protein location in nucleus|positive regulation of tyrosine phosphorylation of Stat3 protein|signal transduction	centrosome|midbody|mitochondrial intermembrane space|nucleus|spindle	protein binding|small GTPase regulator activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|urinary_tract(1)	12						AGATTTCTTTGGTAGAAAAAT	0.423000													7	31					0.0293803	0.029598	1	1	0
ADH4	127	broad.mit.edu	37	4	100057629	100057629	+	Silent	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr4:100057629G>T	uc003hun.3	-	4	646	c.570C>A	c.(568-570)atC>atA	p.I190I	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Silent_p.I209I	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	190					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	TGGCATTGTTGATTGCAGCCC	0.388000													12	27					9.05144e-12	1.00901e-11	1	1	0
LRCH3	84859	broad.mit.edu	37	3	197592302	197592302	+	Missense_Mutation	SNP	C	C	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr3:197592302C>G	uc011bul.1	+	15	1730	c.1725C>G	c.(1723-1725)gaC>gaG	p.D575E	LRCH3_uc003fyj.1_Missense_Mutation_p.D575E|LRCH3_uc011bum.1_Missense_Mutation_p.D523E|LRCH3_uc011bun.1_Missense_Mutation_p.D421E|LRCH3_uc003fyk.2_Missense_Mutation_p.D170E	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	575						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGAGTGATGACAGACCTAATG	0.274000													26	71					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123109188	123109188	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr4:123109188A>T	uc003ieh.3	+	6	811	c.766A>T	c.(766-768)Aat>Tat	p.N256Y	KIAA1109_uc003iei.1_Missense_Mutation_p.N10Y	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	256					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAGCTTGAAAATGTTCGAGT	0.313000													3	10					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848746	166848746	+	Missense_Mutation	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr2:166848746A>T	uc002udo.4	-	27	5266	c.5039T>A	c.(5038-5040)gTc>gAc	p.V1680D	SCN1A_uc010fpk.3_Missense_Mutation_p.V1652D|SCN1A_uc021vsb.1_Missense_Mutation_p.V1669D	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1680						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GATGAACATGACTAGGAAGAG	0.478000													73	155					0	0	1	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673886	125673886	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr9:125673886T>C	uc004bnh.3	-	1	555	c.466A>G	c.(466-468)Aat>Gat	p.N156D	ZBTB6_uc022bnb.1_Missense_Mutation_p.N156D	NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	Homo sapiens zinc finger and BTB domain containing 6 (ZBTB6), mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TTATCAGAATTTTCATCTTCA	0.338000													6	16					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53995548	53995548	+	Silent	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:53995548C>T	uc001cvr.1	-	3	1440	c.873G>A	c.(871-873)ccG>ccA	p.P291P		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	291					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGCACAGGTACGGCTTCTCGC	0.637000													22	17					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202866048	202866048	+	Silent	SNP	G	G	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:202866048G>A	uc001gyo.1	-	6	1073	c.873C>T	c.(871-873)agC>agT	p.S291S	KLHL12_uc001gym.1_Silent_p.S24S|KLHL12_uc001gyn.1_Silent_p.S141S|KLHL12_uc010pqc.1_Silent_p.S329S|KLHL12_uc009xah.1_Intron	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	291					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGACTGCTGGCTTCCAAAGC	0.473000													38	55					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50285918	50285918	+	Missense_Mutation	SNP	A	A	G			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr19:50285918A>G	uc002ppn.3	+	3	621	c.410A>G	c.(409-411)aAc>aGc	p.N137S	AP2A1_uc010enj.1_Intron|AP2A1_uc002ppo.3_Missense_Mutation_p.N137S	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	137					Golgi to endosome transport|axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCATCGCCAACGTGGGCAGC	0.657000													8	16					0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112361757	112361757	+	Missense_Mutation	SNP	T	T	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr10:112361757T>A	uc001kze.3	+	24	3052	c.2926T>A	c.(2926-2928)Tta>Ata	p.L976I		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	976					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CAACACAGAATTAAAGAAGTA	0.303000													9	36					0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116441541	116441541	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr6:116441541G>T	uc003pwm.3	-	2	1834	c.1738C>A	c.(1738-1740)Cag>Aag	p.Q580K	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	580	C1q.|Nonhelical region (NC1).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCATAATGCTGTTGCCTGTTA	0.398000													17	51					0.000132079	0.000135058	1	1	0
GNL2	29889	broad.mit.edu	37	1	38042060	38042060	+	Missense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:38042060C>T	uc001cbk.3	-	8	1170	c.1007G>A	c.(1006-1008)tGc>tAc	p.C336Y	GNL2_uc010oif.1_Missense_Mutation_p.C177Y	NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	336	G.				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGCCACGTTGCAAACTTTCTT	0.423000													18	37					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15512476	15512476	+	Missense_Mutation	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr6:15512476T>C	uc003nbj.3	+	13	3234	c.2990T>C	c.(2989-2991)gTg>gCg	p.V997A	JARID2_uc011div.2_Missense_Mutation_p.V825A	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	997	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGGATCAAGGTGCACAGGACC	0.612000													31	68					0	0	1	0	0
C4BPB	725	broad.mit.edu	37	1	207271520	207271520	+	Missense_Mutation	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:207271520C>A	uc009xcd.3	+	5	1002	c.682C>A	c.(682-684)Cag>Aag	p.Q228K	C4BPB_uc001hfi.3_Missense_Mutation_p.Q176K|C4BPB_uc001hfj.3_Missense_Mutation_p.Q177K|C4BPB_uc001hfl.3_Missense_Mutation_p.Q177K|C4BPB_uc001hfk.3_Missense_Mutation_p.Q176K|C4BPB_uc001hfm.3_Missense_Mutation_p.Q177K	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	177					blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						CGTGCAGGAGCAGCAATGCGT	0.478000													22	47					5.35356e-11	5.91938e-11	1	1	0
CHPF	79586	broad.mit.edu	37	2	220404816	220404816	+	Silent	SNP	A	A	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr2:220404816A>T	uc002vmc.4	-	3	1844	c.1617T>A	c.(1615-1617)gcT>gcA	p.A539A	CHPF_uc010zlh.2_Silent_p.A377A	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	539	Ala-rich.					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGCTGCCGCAGCATCACCAG	0.657000													7	8					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	124989660	124989660	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr8:124989660C>T	uc003yqw.3	+	9	1080	c.874C>T	c.(874-876)Cga>Tga	p.R292*		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	292	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTTAGGGGCGAACCACAGT	0.478000													40	68					0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88053423	88053423	+	Splice_Site	SNP	C	C	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr4:88053423C>T	uc011ccz.2	+	19	3449	c.3174_splice	c.e19-1	p.C1058_splice	AFF1_uc003hqj.4_Splice_Site_p.C1051_splice|AFF1_uc003hqk.4_Splice_Site_p.C1051_splice|AFF1_uc011cda.2_Splice_Site_p.C689_splice	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	1051						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTGTTCATAGCATGCGTTGCC	0.393000													28	64					0	0	1	0	0
GGT8P	645367	broad.mit.edu	37	2	91963940	91963940	+	RNA	SNP	T	T	C			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr2:91963940T>C	uc010fho.1	+	0		c.573T>C								Homo sapiens gamma-glutamyltransferase 8 pseudogene (GGT8P), non-coding RNA.																		GGCCTGACCCTGCTCCTTACC	0.602000													24	49					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12858616	12858616	+	Silent	SNP	C	C	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr2:12858616C>A	uc002rbv.4	+	0	1619	c.183C>A	c.(181-183)atC>atA	p.I61I	TRIB2_uc010yjp.2_Intron	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.	61	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTTCTTGTATCGGGAAATACT	0.577000											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	36					1.38267e-23	1.62106e-23	1	1	0
CRB1	23418	broad.mit.edu	37	1	197237545	197237545	+	Missense_Mutation	SNP	G	G	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:197237545G>T	uc001gtz.3	+	0	212	c.3G>T	c.(1-3)atG>atT	p.M1I	CRB1_uc010poz.2_Intron|CRB1_uc001gty.2_Missense_Mutation_p.M1I|CRB1_uc009wza.3_Missense_Mutation_p.M1I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.M1I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATAAGACCATGGCACTTAAGA	0.478000													20	37					7.87624e-14	8.92641e-14	1	1	0
ERRFI1	54206	broad.mit.edu	37	1	8074134	8074135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr1:8074134_8074135delAG	uc001aoz.3	-	3	773_774	c.524_525delCT	c.(523-525)actfs	p.T175fs	ERRFI1_uc001apa.1_Frame_Shift_Del_p.T100fs	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	175					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TATCTGAGCTAGTTAGGAATTC	0.480													41	58	---	---	---	---					
FAM117B	150864	broad.mit.edu	37	2	203560690	203560690	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr2:203560690delG	uc010zhx.2	+	1	698	c.688delG	c.(688-690)gctfs	p.A230fs	FAM117B_uc010zhw.2_Frame_Shift_Del_p.A230fs	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	230										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ACCGTATCTTGCTGGACACTG	0.483													32	60	---	---	---	---					
PCDHB10	56126	broad.mit.edu	37	5	140572491	140572494	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:140572491_140572494delAGTC	uc003lix.3	+	0	540_543	c.366_369delAGTC	c.(364-369)agagtcfs	p.R122fs		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	122	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGCTGAGAGTCAGGGATATAA	0.422													54	95	---	---	---	---					
CLK4	57396	broad.mit.edu	37	5	178030682	178030683	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr5:178030682_178030683insT	uc003mjf.1	-	12	1489_1490	c.1381_1382insA	c.(1381-1383)actfs	p.T461fs	CLK4_uc003mjg.1_Frame_Shift_Ins_p.T425fs|CLK4_uc010jku.1_Frame_Shift_Ins_p.T281fs|CLK4_uc003mjh.1_Frame_Shift_Ins_p.T281fs|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_3'UTR	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	461	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AATTCTTTGAGTTGGATCATAT	0.342													30	31	---	---	---	---					
EHMT2	10919	broad.mit.edu	37	6	31852462	31852462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr6:31852462delG	uc003nxz.1	-	19	2573	c.2563delC	c.(2563-2565)ctgfs	p.L855fs	EHMT2_uc003nxx.1_Frame_Shift_Del_p.L53fs|EHMT2_uc003nxy.1_Frame_Shift_Del_p.L653fs|EHMT2_uc011don.1_Frame_Shift_Del_p.L878fs|EHMT2_uc003nya.1_Frame_Shift_Del_p.L821fs	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	855					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGATGTGCAGGGGGGTGTCC	0.657													29	38	---	---	---	---					
ODF2	4957	broad.mit.edu	37	9	131250301	131250301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr9:131250301delG	uc004bvc.3	+	13	1811	c.1725delG	c.(1723-1725)ctgfs	p.L575fs	ODF2_uc011maz.2_Frame_Shift_Del_p.L511fs|ODF2_uc011mbc.2_Frame_Shift_Del_p.L430fs|ODF2_uc022boj.1_Frame_Shift_Del_p.L536fs|ODF2_uc004bva.3_Frame_Shift_Del_p.L555fs|ODF2_uc004bvb.3_Frame_Shift_Del_p.L487fs|ODF2_uc011mbd.2_Frame_Shift_Del_p.L511fs|ODF2_uc011mbe.2_Frame_Shift_Del_p.L506fs|ODF2_uc011mbf.2_Frame_Shift_Del_p.L492fs|ODF2_uc004bvd.4_Frame_Shift_Del_p.L511fs|ODF2_uc004bve.3_Frame_Shift_Del_p.L492fs	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	511					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATGAGAGGCTGAAGGTTCGCA	0.587													16	30	---	---	---	---					
PARG	8505	broad.mit.edu	37	10	51028288	51028288	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr10:51028288delA	uc001jih.3	-	17	2840	c.2699delT	c.(2698-2700)ttcfs	p.F900fs	PARG_uc009xoj.3_Frame_Shift_Del_p.F451fs|PARG_uc001jif.3_Frame_Shift_Del_p.F900fs|PARG_uc001jig.3_Frame_Shift_Del_p.F486fs|PARG_uc010qgv.2_Frame_Shift_Del_p.F168fs|PARG_uc009xoi.3_Frame_Shift_Del_p.F188fs|PARG_uc010qgw.2_Frame_Shift_Del_p.F791fs|PARG_uc010qgx.2_Frame_Shift_Del_p.F818fs	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	900					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		CCCAAAGGTGAAATAAACCAC	0.423													21	54	---	---	---	---					
TET1	80312	broad.mit.edu	37	10	70446307	70446307	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr10:70446307delG	uc001jok.4	+	10	5752	c.5247delG	c.(5245-5247)cagfs	p.Q1749fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1749					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTTCACTCAGCCTGTTCCCC	0.507													44	94	---	---	---	---					
TAS2R14	50840	broad.mit.edu	37	12	11091488	11091488	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr12:11091488delA	uc010shi.2	-	0	319	c.319delT	c.(319-321)tatfs	p.Y107fs	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	107					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TTGAGAAAATAAAAAGTACCG	0.368													5	8	---	---	---	---					
NAB2	4665	broad.mit.edu	37	12	57486863	57486863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr12:57486863delC	uc001smz.3	+	4	1539	c.1161delC	c.(1159-1161)cacfs	p.H387fs		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	387					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AACAGAGTCACCCTGAAATCC	0.622													19	35	---	---	---	---					
SLC25A15	10166	broad.mit.edu	37	13	41381598	41381598	+	Splice_Site	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr13:41381598delA	uc001uxn.3	+	5	944	c.622_splice	c.e5+1	p.G208_splice	LOC100616668_uc021riq.1_Intron|LOC100616668_uc001uxp.2_Intron|SLC25A15_uc010tfb.2_Splice_Site_p.G114_splice|LOC100616668_uc001uxo.2_Non-coding_Transcript	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 (SLC25A15), nuclear gene encoding mitochondrial protein, mRNA.	208					cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	AAGATGAATTAGGTAAATGTG	0.473													29	34	---	---	---	---					
CLEC14A	161198	broad.mit.edu	37	14	38724899	38724899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:38724899delA	uc001wum.1	-	0	676	c.329delT	c.(328-330)ttgfs	p.L110fs		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	110	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAAACCCCGCAAAGGCTCGTT	0.692													2	4	---	---	---	---					
ADAM20	8748	broad.mit.edu	37	14	70990728	70990729	+	Frame_Shift_Del	DEL	CT	CT	-	rs112672973		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr14:70990728_70990729delCT	uc021rvs.1	-	0	896_897	c.896_897delAG	c.(895-897)gagfs	p.E299fs	ADAM20_uc001xme.3_Frame_Shift_Del_p.E299fs	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	249	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TTACATCAACCTCCAAAGGATG	0.347													13	31	---	---	---	---					
TEX9	374618	broad.mit.edu	37	15	56686956	56686956	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr15:56686956delA	uc002adp.3	+	8	757	c.752delA	c.(751-753)gaafs	p.E251fs	TEX9_uc010ugl.2_Frame_Shift_Del_p.E176fs|TEX9_uc002adq.1_Frame_Shift_Del_p.E176fs	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	Homo sapiens testis expressed 9 (TEX9), mRNA.	251								p.E251Q(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TCTCAAGTAGAAAAATACAAA	0.303													28	59	---	---	---	---					
TSHZ1	10194	broad.mit.edu	37	18	72999467	72999468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr18:72999467_72999468insA	uc002lly.3	+	1	2533_2534	c.1970_1971insA	c.(1969-1971)gccfs	p.A657fs	TSHZ1_uc021uln.1_Frame_Shift_Ins_p.A657fs	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	702						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTGGGAAGGCCAAAAAGGAGG	0.550													34	68	---	---	---	---					
IRGQ	126298	broad.mit.edu	37	19	44099300	44099300	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr19:44099300delG	uc002oww.2	-	0	309	c.191delC	c.(190-192)ccafs	p.P64fs	IRGQ_uc010eiv.2_Frame_Shift_Del_p.P64fs|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	64							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CGCTGCGGGTGGGCAGCTCAG	0.721													2	4	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56098141	56098141	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr20:56098141delT	uc010giw.1	-	2	848	c.737delA	c.(736-738)aatfs	p.N246fs	CTCFL_uc010gix.1_Frame_Shift_Del_p.N246fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.N246fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.N246fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.N246fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.N246fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.N246fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.N246fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Frame_Shift_Del_p.N41fs|CTCFL_uc010gjh.2_Frame_Shift_Del_p.N246fs|CTCFL_uc010gji.2_Frame_Shift_Del_p.N41fs|CTCFL_uc010gjj.2_Frame_Shift_Del_p.N246fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.N246fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.N246fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.N246fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	246					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTTTCTTTGATTTTTTGTAGA	0.398													24	48	---	---	---	---					
SMARCB1	6598	broad.mit.edu	37	22	24175838	24175839	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-10A-01D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	68d9e30c-356a-4fd1-a9e9-6e535a0a963d	g.chr22:24175838_24175839insTT	uc002zyd.3	+	7	1300_1301	c.1093_1094insTT	c.(1093-1095)ctgfs	p.L365fs	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Frame_Shift_Ins_p.L356fs|SMARCB1_uc002zyc.3_Frame_Shift_Ins_p.L347fs	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	356					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCTGGAGACTCTGACAGACGCT	0.629			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							24	63	---	---	---	---					
ERRFI1	54206	broad.mit.edu	37	1	8074134	8074135	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr1:8074134_8074135delAG	uc001aoz.3	-	3	773_774	c.524_525delCT	c.(523-525)actfs	p.T175fs	ERRFI1_uc001apa.1_Frame_Shift_Del_p.T100fs	NM_018948	NP_061821	Q9UJM3	ERRFI_HUMAN	Homo sapiens ERBB receptor feedback inhibitor 1 (ERRFI1), mRNA.	175					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	Rho GTPase activator activity|protein kinase binding			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		TATCTGAGCTAGTTAGGAATTC	0.480													41	58	---	---	---	---					
FAM117B	150864	broad.mit.edu	37	2	203560690	203560690	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr2:203560690delG	uc010zhx.2	+	1	698	c.688delG	c.(688-690)gctfs	p.A230fs	FAM117B_uc010zhw.2_Frame_Shift_Del_p.A230fs	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA.	230										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						ACCGTATCTTGCTGGACACTG	0.483													32	60	---	---	---	---					
PCDHB10	56126	broad.mit.edu	37	5	140572491	140572494	+	Frame_Shift_Del	DEL	AGTC	AGTC	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr5:140572491_140572494delAGTC	uc003lix.3	+	0	540_543	c.366_369delAGTC	c.(364-369)agagtcfs	p.R122fs		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	122	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGCTGAGAGTCAGGGATATAA	0.422													54	95	---	---	---	---					
CLK4	57396	broad.mit.edu	37	5	178030682	178030683	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr5:178030682_178030683insT	uc003mjf.1	-	12	1489_1490	c.1381_1382insA	c.(1381-1383)actfs	p.T461fs	CLK4_uc003mjg.1_Frame_Shift_Ins_p.T425fs|CLK4_uc010jku.1_Frame_Shift_Ins_p.T281fs|CLK4_uc003mjh.1_Frame_Shift_Ins_p.T281fs|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_3'UTR	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	461	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AATTCTTTGAGTTGGATCATAT	0.342													30	31	---	---	---	---					
EHMT2	10919	broad.mit.edu	37	6	31852462	31852462	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr6:31852462delG	uc003nxz.1	-	19	2573	c.2563delC	c.(2563-2565)ctgfs	p.L855fs	EHMT2_uc003nxx.1_Frame_Shift_Del_p.L53fs|EHMT2_uc003nxy.1_Frame_Shift_Del_p.L653fs|EHMT2_uc011don.1_Frame_Shift_Del_p.L878fs|EHMT2_uc003nya.1_Frame_Shift_Del_p.L821fs	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	855					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCGATGTGCAGGGGGGTGTCC	0.657													29	38	---	---	---	---					
ODF2	4957	broad.mit.edu	37	9	131250301	131250301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr9:131250301delG	uc004bvc.3	+	13	1811	c.1725delG	c.(1723-1725)ctgfs	p.L575fs	ODF2_uc011maz.2_Frame_Shift_Del_p.L511fs|ODF2_uc011mbc.2_Frame_Shift_Del_p.L430fs|ODF2_uc022boj.1_Frame_Shift_Del_p.L536fs|ODF2_uc004bva.3_Frame_Shift_Del_p.L555fs|ODF2_uc004bvb.3_Frame_Shift_Del_p.L487fs|ODF2_uc011mbd.2_Frame_Shift_Del_p.L511fs|ODF2_uc011mbe.2_Frame_Shift_Del_p.L506fs|ODF2_uc011mbf.2_Frame_Shift_Del_p.L492fs|ODF2_uc004bvd.4_Frame_Shift_Del_p.L511fs|ODF2_uc004bve.3_Frame_Shift_Del_p.L492fs	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	511					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ATGAGAGGCTGAAGGTTCGCA	0.587													16	30	---	---	---	---					
PARG	8505	broad.mit.edu	37	10	51028288	51028288	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr10:51028288delA	uc001jih.3	-	17	2840	c.2699delT	c.(2698-2700)ttcfs	p.F900fs	PARG_uc009xoj.3_Frame_Shift_Del_p.F451fs|PARG_uc001jif.3_Frame_Shift_Del_p.F900fs|PARG_uc001jig.3_Frame_Shift_Del_p.F486fs|PARG_uc010qgv.2_Frame_Shift_Del_p.F168fs|PARG_uc009xoi.3_Frame_Shift_Del_p.F188fs|PARG_uc010qgw.2_Frame_Shift_Del_p.F791fs|PARG_uc010qgx.2_Frame_Shift_Del_p.F818fs	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	900					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		CCCAAAGGTGAAATAAACCAC	0.423													21	54	---	---	---	---					
TET1	80312	broad.mit.edu	37	10	70446307	70446307	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr10:70446307delG	uc001jok.4	+	10	5752	c.5247delG	c.(5245-5247)cagfs	p.Q1749fs		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1749					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTTTCACTCAGCCTGTTCCCC	0.507													44	94	---	---	---	---					
TAS2R14	50840	broad.mit.edu	37	12	11091488	11091488	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr12:11091488delA	uc010shi.2	-	0	319	c.319delT	c.(319-321)tatfs	p.Y107fs	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	107					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TTGAGAAAATAAAAAGTACCG	0.368													5	8	---	---	---	---					
NAB2	4665	broad.mit.edu	37	12	57486863	57486863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr12:57486863delC	uc001smz.3	+	4	1539	c.1161delC	c.(1159-1161)cacfs	p.H387fs		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	387					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AACAGAGTCACCCTGAAATCC	0.622													19	35	---	---	---	---					
SLC25A15	10166	broad.mit.edu	37	13	41381598	41381598	+	Splice_Site	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr13:41381598delA	uc001uxn.3	+	5	944	c.622_splice	c.e5+1	p.G208_splice	LOC100616668_uc021riq.1_Intron|LOC100616668_uc001uxp.2_Intron|SLC25A15_uc010tfb.2_Splice_Site_p.G114_splice|LOC100616668_uc001uxo.2_Non-coding_Transcript	NM_014252	NP_055067	Q9Y619	ORNT1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 (SLC25A15), nuclear gene encoding mitochondrial protein, mRNA.	208					cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	AAGATGAATTAGGTAAATGTG	0.473													29	34	---	---	---	---					
CLEC14A	161198	broad.mit.edu	37	14	38724899	38724899	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr14:38724899delA	uc001wum.1	-	0	676	c.329delT	c.(328-330)ttgfs	p.L110fs		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	110	C-type lectin.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAAACCCCGCAAAGGCTCGTT	0.692													2	4	---	---	---	---					
ADAM20	8748	broad.mit.edu	37	14	70990728	70990729	+	Frame_Shift_Del	DEL	CT	CT	-	rs112672973		TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr14:70990728_70990729delCT	uc021rvs.1	-	0	896_897	c.896_897delAG	c.(895-897)gagfs	p.E299fs	ADAM20_uc001xme.3_Frame_Shift_Del_p.E299fs	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	249	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TTACATCAACCTCCAAAGGATG	0.347													13	31	---	---	---	---					
TEX9	374618	broad.mit.edu	37	15	56686956	56686956	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr15:56686956delA	uc002adp.3	+	8	757	c.752delA	c.(751-753)gaafs	p.E251fs	TEX9_uc010ugl.2_Frame_Shift_Del_p.E176fs|TEX9_uc002adq.1_Frame_Shift_Del_p.E176fs	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	Homo sapiens testis expressed 9 (TEX9), mRNA.	251								p.E251Q(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TCTCAAGTAGAAAAATACAAA	0.303													28	59	---	---	---	---					
TSHZ1	10194	broad.mit.edu	37	18	72999467	72999468	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr18:72999467_72999468insA	uc002lly.3	+	1	2533_2534	c.1970_1971insA	c.(1969-1971)gccfs	p.A657fs	TSHZ1_uc021uln.1_Frame_Shift_Ins_p.A657fs	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	702						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTGGGAAGGCCAAAAAGGAGG	0.550													34	68	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56098141	56098141	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr20:56098141delT	uc010giw.1	-	2	848	c.737delA	c.(736-738)aatfs	p.N246fs	CTCFL_uc010gix.1_Frame_Shift_Del_p.N246fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.N246fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.N246fs|CTCFL_uc010gja.1_Frame_Shift_Del_p.N246fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.N246fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.N246fs|CTCFL_uc010gje.3_Frame_Shift_Del_p.N246fs|CTCFL_uc010gjg.3_Intron|CTCFL_uc010gjf.3_Frame_Shift_Del_p.N41fs|CTCFL_uc010gjh.2_Frame_Shift_Del_p.N246fs|CTCFL_uc010gji.2_Frame_Shift_Del_p.N41fs|CTCFL_uc010gjj.2_Frame_Shift_Del_p.N246fs|CTCFL_uc021wfe.1_Frame_Shift_Del_p.N246fs|CTCFL_uc021wff.1_Intron|CTCFL_uc021wfg.1_Intron|CTCFL_uc010gjk.1_Frame_Shift_Del_p.N246fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.N246fs	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	246					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTTTCTTTGATTTTTTGTAGA	0.398													24	48	---	---	---	---					
SMARCB1	6598	broad.mit.edu	37	22	24175838	24175839	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B1-A47M-01A-11D-A25F-10	TCGA-B1-A47M-11A-11D-A25F-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fb7fcac-6c1d-40c2-9309-b53821cbef30	a154ce02-1879-432f-8b26-2eae5672904e	g.chr22:24175838_24175839insTT	uc002zyd.3	+	7	1300_1301	c.1093_1094insTT	c.(1093-1095)ctgfs	p.L365fs	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Frame_Shift_Ins_p.L356fs|SMARCB1_uc002zyc.3_Frame_Shift_Ins_p.L347fs	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	356					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCTGGAGACTCTGACAGACGCT	0.629			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							24	63	---	---	---	---					
