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
DAB2IP	153090	broad.mit.edu	37	9	124535682	124535682	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:124535682G>C	ENST00000408936.3	+	12	3057	c.2875G>C	c.(2875-2877)Gat>Cat	p.D959H	DAB2IP_ENST00000309989.1_Missense_Mutation_p.D835H|DAB2IP_ENST00000259371.2_Missense_Mutation_p.D931H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	959					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCCTCACCTGATTGGGTGGG	0.687000													8	10					0	0	1	0	0
RPL13A	23521	broad.mit.edu	37	19	49994709	49994709	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:49994709G>A	ENST00000391857.4	+	7	506	c.430G>A	c.(430-432)Gag>Aag	p.E144K	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	144					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGGCTCACGAGGTTGGCTG	0.577000													5	2					0	0	1	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													5	162					0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3805979	3805979	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:3805979C>A	ENST00000440314.2	-	4	660	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	EFCAB4B_ENST00000252322.1_Missense_Mutation_p.D63Y|EFCAB4B_ENST00000444507.1_Missense_Mutation_p.D63Y	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	63	EF-hand 1.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CCTTCAGCATCACAGGTCTGA	0.572000													31	74					1.08312e-15	1.15648e-15	1	1	0
A2ML1	144568	broad.mit.edu	37	12	9002841	9002841	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:9002841G>C	ENST00000299698.7	+	18	2385	c.2205G>C	c.(2203-2205)gaG>gaC	p.E735D	A2ML1_ENST00000539547.1_Missense_Mutation_p.E244D	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	579						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACTTCCCAGAGACCTGGCTCT	0.498000													51	139					0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79279589	79279589	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:79279589G>A	ENST00000442340.1	+	4	514	c.24G>A	c.(22-24)aaG>aaA	p.K8K	TBX22_ENST00000373291.1_Silent_p.K8K|TBX22_ENST00000373296.3_Silent_p.K128K|TBX22_ENST00000373294.5_Silent_p.K128K	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	128					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K128N(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCGGGTCAAGGTGAAAGGGT	0.488000													37	17					0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119003248	119003248	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:119003248C>T	ENST00000350777.2	+	6	782	c.719C>T	c.(718-720)aCa>aTa	p.T240I	HINFP_ENST00000527410.1_Missense_Mutation_p.T240I	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	240					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGATTTGCCACAGAGCGGCTA	0.577000													30	25					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211512	78211512	+	RNA	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:78211512C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							GTTCCTTGCTCAGGACACTCA	0.557000													5	172					0.000602214	0.00060447	1	1	0
DUSP22	56940	broad.mit.edu	37	6	348917	348917	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:348917C>G	ENST00000604971.1	+	4	1388	c.275C>G	c.(274-276)cCg>cGg	p.P92R	DUSP22_ENST00000603453.1_Missense_Mutation_p.P92R|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.P195R|DUSP22_ENST00000605315.1_Missense_Mutation_p.P92R			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCACTGGCTCCGCTGACCTAC	0.592000													6	26					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20735341	20735341	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:20735341G>A	ENST00000427401.4	-	3	260	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	ZNF737_ENST00000596797.1_Silent_p.L56L	NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	56					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCTTGCTCCAGACAGGTGATG	0.383000													26	40					0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862036	94862036	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:94862036C>G	ENST00000278505.4	+	2	914	c.796C>G	c.(796-798)Cag>Gag	p.Q266E		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	266						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCAGCTGTTTCAGAACAACTG	0.428000													27	26					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618444	77618444	+	Silent	SNP	T	T	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:77618444T>C	ENST00000521891.2	+	2	2569	c.2121T>C	c.(2119-2121)tcT>tcC	p.S707S	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.S707S|ZFHX4_ENST00000050961.6_Silent_p.S707S|ZFHX4_ENST00000518282.1_Silent_p.S707S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	707						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GTAACTACTCTACCACTACCA	0.488000										HNSCC(33;0.089)			32	55					0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499829	75499829	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:75499829C>T	ENST00000360639.2	+	2	1760	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	C15orf39_ENST00000567617.1_Silent_p.A480A|C15orf39_ENST00000394987.4_Silent_p.A480A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	480										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCCTGTGCCCGGGAGTGCC	0.637000													38	71					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119128590	119128590	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:119128590G>C	ENST00000264245.4	+	11	2425	c.1893G>C	c.(1891-1893)agG>agC	p.R631S		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	631					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGAGCCCCAGGGCCAGAGCCG	0.532000													4	19					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73688981	73688981	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:73688981C>T	ENST00000310473.3	-	4	1129	c.287G>A	c.(286-288)cGc>cAc	p.R96H	UCP2_ENST00000536983.1_Missense_Mutation_p.R96H	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	96					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CAGGCCGATGCGGACAGAGGC	0.562000													41	35					0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26655236	26655236	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:26655236G>C	ENST00000527815.1	-	15	1870	c.1821C>G	c.(1819-1821)atC>atG	p.I607M	AIM1L_ENST00000308182.5_Missense_Mutation_p.I436M	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	436	Ricin B-type lectin.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGCCCCCCTTGATCCGCACAG	0.612000													50	97					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	65					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40795314	40795314	+	Missense_Mutation	SNP	C	C	G	rs141252242		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr21:40795314C>G	ENST00000358268.2	-	5	953	c.425G>C	c.(424-426)cGa>cCa	p.R142P	LCA5L_ENST00000485895.2_Missense_Mutation_p.R142P|LCA5L_ENST00000288350.3_Missense_Mutation_p.R142P|LCA5L_ENST00000380671.2_Missense_Mutation_p.R142P			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	142										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TGAGAGTATTCGATGAGCCAT	0.348000													27	46					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56369063	56369063	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:56369063C>G	ENST00000301295.6	+	3	726	c.304C>G	c.(304-306)Cac>Gac	p.H102D	NLRP4_ENST00000587891.1_Missense_Mutation_p.H27D|NLRP4_ENST00000346986.5_Missense_Mutation_p.H102D	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	102							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTATCAAGCTCACGCAAAGCA	0.428000													22	36					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123342671	123342671	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:123342671G>A	ENST00000253083.4	+	19	1963	c.1838G>A	c.(1837-1839)cGg>cAg	p.R613Q		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	613					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGGGGCTGCGGCAGAGGCTG	0.657000													49	81					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183479328	183479328	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:183479328C>G	ENST00000305135.5	+	14	1885	c.1690C>G	c.(1690-1692)Ctt>Gtt	p.L564V		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	564					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATGCCACCTCTTTGCCCAAT	0.413000													47	165					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242176088	242176088	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:242176088T>A	ENST00000391975.1	-	21	3073	c.2846A>T	c.(2845-2847)gAc>gTc	p.D949V	HDLBP_ENST00000310931.4_Missense_Mutation_p.D949V|HDLBP_ENST00000427183.2_Missense_Mutation_p.D916V|HDLBP_ENST00000391976.2_Missense_Mutation_p.D949V	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	949	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GATGATGATGTCACACCTCCT	0.577000													37	70					0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110905498	110905498	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:110905498G>A	ENST00000316534.4	-	13	1505	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	NPHP1_ENST00000417665.1_Missense_Mutation_p.R421C|NPHP1_ENST00000445609.2_Missense_Mutation_p.R422C|NPHP1_ENST00000393272.3_Missense_Mutation_p.R477C|NPHP1_ENST00000355301.4_Missense_Mutation_p.R359C			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	477					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CATACATTGCGAATATAAGAA	0.338000													20	44					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653650	55653650	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:55653650C>G	ENST00000449290.2	+	3	555	c.463C>G	c.(463-465)Ctc>Gtc	p.L155V	TRIM51_ENST00000244891.3_Missense_Mutation_p.L12V	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	155						intracellular	zinc ion binding										TTGTGAAAATCTCAGAAATCT	0.413000													5	54					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245582994	245582994	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:245582994C>T	ENST00000407071.2	+	4	1553	c.1113C>T	c.(1111-1113)tgC>tgT	p.C371C		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	371					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGGGCTCCTGCGTGGCCAGCG	0.592000													29	76					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1634161	1634161	+	Silent	SNP	C	C	T	rs145262105		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:1634161C>T	ENST00000409644.1	+	3	3888	c.3888C>T	c.(3886-3888)ctC>ctT	p.L1296L	WDR81_ENST00000446363.1_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.L69L|WDR81_ENST00000309182.5_Silent_p.L245L|WDR81_ENST00000437219.2_Silent_p.L93L|WDR81_ENST00000545662.1_5'UTR	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	69										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCTGTGCTCAGCTGCCTCC	0.632000													39	63					0	0	1	0	0
ENOPH1	58478	broad.mit.edu	37	4	83369157	83369157	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:83369157A>C	ENST00000273920.3	+	2	437	c.169A>C	c.(169-171)Agt>Cgt	p.S57R	ENOPH1_ENST00000509635.1_5'UTR	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	57					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GCAGGATGTCAGTCTTTTGAG	0.398000													23	22					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14480078	14480078	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:14480078C>G	ENST00000344204.4	+	43	6318	c.6294C>G	c.(6292-6294)atC>atG	p.I2098M	TRIO_ENST00000537187.1_Missense_Mutation_p.I2098M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2098	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATCTGTTGATCAAACCAGTGC	0.453000													22	25					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499603	141499603	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:141499603G>A	ENST00000264952.2	+	2	1137	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	334	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CAGGTTATCTGACCTGGGGCT	0.587000													12	50					0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137781805	137781805	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:137781805C>G	ENST00000327532.2	-	16	2519	c.2157G>C	c.(2155-2157)gaG>gaC	p.E719D		NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	719						intracellular	zinc ion binding	p.E719D(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCAAGTCACTCTCATCTTCAG	0.507000													21	84					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120820	94120820	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:94120820C>A	ENST00000369303.4	-	3	415	c.231G>T	c.(229-231)atG>atT	p.M77I	EPHA7_ENST00000369297.1_Missense_Mutation_p.M77I	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	77						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGTTGGGCTCCATGACTTGGC	0.413000													31	61					6.00712e-18	6.49157e-18	1	1	0
FBXO39	162517	broad.mit.edu	37	17	6683709	6683709	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:6683709G>A	ENST00000321535.4	+	2	652	c.522G>A	c.(520-522)ctG>ctA	p.L174L		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	174										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GGGCCAGGCTGACCGTGGAGC	0.498000													36	47					0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68193774	68193774	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:68193774G>A	ENST00000551171.1	+	7	849	c.525G>A	c.(523-525)tcG>tcA	p.S175S	RDH12_ENST00000539142.1_Silent_p.S175S|RDH12_ENST00000267502.3_Silent_p.S175S	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	175			S -> P (in LCA13).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	ATGTGTCCTCGGTGGCTCACC	0.592000													24	51					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22956372	22956372	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:22956372G>C	ENST00000435939.2	+	1	618	c.316G>C	c.(316-318)Gag>Cag	p.E106Q	CYFIP1_ENST00000560848.1_Intron|CYFIP1_ENST00000313077.7_Intron	NM_001033028.1	NP_001028200.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	0					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TGGGCTTTTTGAGTTTGGCAT	0.542000													17	27					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78183706	78183706	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:78183706G>A	ENST00000370793.1	-	18	2203	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	USP33_ENST00000370792.3_Silent_p.F611F|USP33_ENST00000370794.3_Silent_p.F588F|USP33_ENST00000357428.1_Silent_p.F619F	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	619					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GTTCATGTCTGAATCTTTTAA	0.333000													25	56					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170150718	170150718	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:170150718G>A	ENST00000263816.3	-	6	877	c.592C>T	c.(592-594)Cgt>Tgt	p.R198C	LRP2_ENST00000443831.1_Missense_Mutation_p.R198C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	198	LDL-receptor class A 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACATAAGCACGAGGGATACAC	0.443000													45	65					0	0	1	0	0
KANK1	23189	broad.mit.edu	37	9	738504	738504	+	Splice_Site	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:738504G>A	ENST00000382303.1	+	12	4205	c.3553_splice	c.e12+1	p.D1185_splice	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Splice_Site_p.D1185_splice|KANK1_ENST00000382293.3_Splice_Site_p.D1027_splice	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1185					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTTAGATGCCGGTATGTTGGC	0.522000													19	9					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134237784	134237784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:134237784C>A	ENST00000250160.6	+	4	868	c.762C>A	c.(760-762)tgC>tgA	p.C254*	WISP1_ENST00000220856.6_Nonsense_Mutation_p.C167*|WISP1_ENST00000377863.2_Nonsense_Mutation_p.C82*|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	254	TSP type-1.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GCCGCCTCTGCAACTTGCGGC	0.572000													26	78					2.65835e-16	2.84975e-16	1	1	0
SCGN	10590	broad.mit.edu	37	6	25653629	25653629	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:25653629G>C	ENST00000377961.2	+	2	270	c.102G>C	c.(100-102)gaG>gaC	p.E34D	SCGN_ENST00000334979.6_Intron	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	34	EF-hand 1.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACATAGAAGAGAAGGAACTCG	0.299000													11	22					0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212138	8212138	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:8212138G>C	ENST00000307637.4	-	2	847	c.644C>G	c.(643-645)tCt>tGt	p.S215C		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	215					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TGTTTGGAAAGAGGAAGGATC	0.428000													34	136					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558387	140558387	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:140558387A>G	ENST00000239444.2	+	1	1017	c.772A>G	c.(772-774)Ata>Gta	p.I258V		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		258	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACAGTCCAATAAGCTTCCT	0.458000													59	478					0	0	1	0	0
HADH	3033	broad.mit.edu	37	4	108954379	108954379	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:108954379G>T	ENST00000505878.1	+	8	1042	c.769G>T	c.(769-771)Ggt>Tgt	p.G257C	HADH_ENST00000454409.2_Missense_Mutation_p.G257C|HADH_ENST00000309522.3_Missense_Mutation_p.G253C|HADH_ENST00000603302.1_Missense_Mutation_p.G270C|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000403312.1_Missense_Mutation_p.G329C			Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	253					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	ATTAGGAGCCGGTTACCCCAT	0.453000													29	46					4.59853e-10	4.77677e-10	1	1	0
GREB1	9687	broad.mit.edu	37	2	11696814	11696814	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:11696814C>G	ENST00000381486.2	+	2	374	c.74C>G	c.(73-75)tCc>tGc	p.S25C	GREB1_ENST00000389825.3_Intron|GREB1_ENST00000263834.5_Missense_Mutation_p.S25C|GREB1_ENST00000381483.2_Missense_Mutation_p.S25C|GREB1_ENST00000234142.5_Missense_Mutation_p.S25C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	25						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATCGAGGCATCCCTGCGGTCC	0.537000													25	47					0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124618415	124618415	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:124618415C>T	ENST00000403470.1	-	6	777	c.722G>A	c.(721-723)cGa>cAa	p.R241Q	VSIG2_ENST00000326621.5_Missense_Mutation_p.R241Q			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	241						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		TCCGGCCACTCGGCCTTGGGA	0.607000													33	25					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81737200	81737200	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:81737200G>C	ENST00000555447.1	-	7	2839	c.2427C>G	c.(2425-2427)caC>caG	p.H809Q	STON2_ENST00000267540.2_Missense_Mutation_p.H809Q	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	809	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AAAAGAAACAGTGTGGGTGAC	0.483000													22	47					0	0	1	0	0
ZNF879	345462	broad.mit.edu	37	5	178454538	178454538	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:178454538C>T	ENST00000444149.2	+	3	286	c.98C>T	c.(97-99)tCt>tTt	p.S33F	ZNF879_ENST00000519896.1_Silent_p.L44L	NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						CACCTGGACTCTGCCCAGAGA	0.562000													9	29					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140657182	140657182	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:140657182C>G	ENST00000460843.1	+	10	1584	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	EHMT1_ENST00000462484.1_Silent_p.L519L|EHMT1_ENST00000334856.6_Silent_p.L488L|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	519					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AAGTGCCTCTCTGCAGCTGCC	0.557000													24	28					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23915282	23915282	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:23915282G>A	ENST00000382298.3	-	10	3321	c.2733C>T	c.(2731-2733)acC>acT	p.T911T	SACS_ENST00000402364.1_Silent_p.T161T|SACS_ENST00000382292.3_Silent_p.T911T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	911					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CACTGCTATCGGTTAAACTAG	0.363000													36	66					0	0	1	0	0
CHMP7	91782	broad.mit.edu	37	8	23114104	23114104	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:23114104G>A	ENST00000397677.1	+	5	1437	c.789G>A	c.(787-789)gaG>gaA	p.E263E	CHMP7_ENST00000313219.7_Silent_p.E263E	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	263					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGAAGCAGAGAGGTAACTTT	0.493000													75	58					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100898172	100898172	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:100898172T>C	ENST00000369208.3	-	4	1101	c.319A>G	c.(319-321)Aca>Gca	p.T107A	SIM1_ENST00000262901.4_Missense_Mutation_p.T107A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	107	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		ACTGAGGCTGTCTCTGAGATG	0.547000													67	131					0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917756	26917756	+	Missense_Mutation	SNP	G	G	T	rs150753405	by1000genomes	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:26917756G>T	ENST00000539517.2	-	5	1250	c.933C>A	c.(931-933)gaC>gaA	p.D311E	NOVA1_ENST00000465357.2_Missense_Mutation_p.D287E|NOVA1_ENST00000267422.7_Missense_Mutation_p.D189E	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	314	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGGCCACCAGGTCATTGCCTG	0.488000													13	36					3.27435e-08	3.36217e-08	1	1	0
PANK1	53354	broad.mit.edu	37	10	91371485	91371485	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:91371485C>T	ENST00000307534.4	-	2	1179	c.1024G>A	c.(1024-1026)Ggg>Agg	p.G342R	PANK1_ENST00000322191.6_Missense_Mutation_p.G117R|PANK1_ENST00000371774.2_Missense_Mutation_p.G144R|PANK1_ENST00000342512.3_Missense_Mutation_p.G117R	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	342					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TTGAAAGCCCCGCCTCCTGTG	0.488000													14	11					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98643463	98643463	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:98643463A>G	ENST00000288985.7	+	2	697	c.392A>G	c.(391-393)aAt>aGt	p.N131S	ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	131					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										TATACCATCAATAGGTATTTG	0.393000													38	15					0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43458176	43458176	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:43458176C>G	ENST00000405006.4	-	38	6124	c.5773G>C	c.(5773-5775)Gaa>Caa	p.E1925Q	THADA_ENST00000415080.2_Missense_Mutation_p.E1606Q|THADA_ENST00000405975.2_Missense_Mutation_p.E1925Q|THADA_ENST00000330266.7_Intron|AC010883.5_ENST00000423354.1_RNA	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1925							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTTCCCCTTCCTTTCCTTCC	0.473000													17	22					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95485020	95485020	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:95485020G>A	ENST00000356884.6	-	3	591	c.524C>T	c.(523-525)gCt>gTt	p.A175V	BICD2_ENST00000375512.3_Missense_Mutation_p.A175V	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	175					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CAGCAGACGAGCTTCCCGGAA	0.557000													18	33					0	0	1	0	0
PRRX1	5396	broad.mit.edu	37	1	170705312	170705312	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:170705312G>A	ENST00000239461.6	+	4	1036	c.723G>A	c.(721-723)gtG>gtA	p.V241V	PRRX1_ENST00000367760.3_3'UTR|PRRX1_ENST00000476867.2_3'UTR	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	241						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGAACCAGGTGCCAACAGTCA	0.438000													39	60					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115112612	115112612	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:115112612G>A	ENST00000349155.2	-	6	2031	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	TBX3_ENST00000257566.3_Silent_p.D376D	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	376					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CGGCCTCGGCGTCGCTCTCAC	0.612000													3	7					0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198498295	198498295	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:198498295C>G	ENST00000309309.7	-	4	250	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.L33F|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.L33F|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.L39F|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.L39F	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	0					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TGGCTTGCTTCAATCGCTTTC	0.274000													36	44					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133899063	133899063	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:133899063G>A	ENST00000220616.4	+	9	1486	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q	TG_ENST00000377869.1_Silent_p.Q482Q	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	482					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.Q482H(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ATGTTGGCCAGTTTAACTTGT	0.478000													47	140					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152383456	152383456	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:152383456G>C	ENST00000397345.3	-	148	22123	c.21921C>G	c.(21919-21921)ctC>ctG	p.L7307L	NEB_ENST00000409198.1_Silent_p.L5606L|NEB_ENST00000603639.1_Silent_p.L7307L|NEB_ENST00000604864.1_Silent_p.L7307L|NEB_ENST00000427231.2_Silent_p.L7307L|NEB_ENST00000172853.10_Silent_p.L5606L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5606					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTATTCCTGAGGGCGAGCA	0.473000													3	6					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238253353	238253353	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:238253353C>G	ENST00000295550.4	-	36	7760	c.7308G>C	c.(7306-7308)gaG>gaC	p.E2436D	COL6A3_ENST00000472056.1_Missense_Mutation_p.E1829D|COL6A3_ENST00000409809.1_Missense_Mutation_p.E2230D|COL6A3_ENST00000347401.3_Missense_Mutation_p.E2235D|COL6A3_ENST00000346358.4_Missense_Mutation_p.E2236D|COL6A3_ENST00000353578.4_Missense_Mutation_p.E2230D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2436	Nonhelical region.|VWFA 11.				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)		GGCAGTTGCTCTCAGCAATGG	0.562000													47	104					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768226	148768226	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:148768226G>A	ENST00000316286.9	-	3	1652	c.1380C>T	c.(1378-1380)ttC>ttT	p.F460F	ZNF786_ENST00000491431.1_Silent_p.F546F|ZNF786_ENST00000451334.3_Silent_p.F509F			Q8N393	ZN786_HUMAN	zinc finger protein 786	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCTTCAGGCGGAAGCGCTTGT	0.627000													19	19					0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2637154	2637154	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:2637154C>T	ENST00000329276.5	+	9	1634	c.1118C>T	c.(1117-1119)gCa>gTa	p.A373V	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	373	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						CGATACCTGGCAAACAAATGC	0.552000													36	52					0	0	1	0	0
HOXD13	3239	broad.mit.edu	37	2	176958041	176958041	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:176958041G>A	ENST00000392539.3	+	1	423	c.423G>A	c.(421-423)tcG>tcA	p.S141S		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	141					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		GCCGTATGTCGCACGGCGTGG	0.667000			T	NUP98	AML*								16	27					0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19206982	19206982	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:19206982G>C	ENST00000318596.7	+	2	200	c.49G>C	c.(49-51)Gag>Cag	p.E17Q		NM_178526.4	NP_848621.2	Q86VD7	S2542_HUMAN	solute carrier family 25, member 42	17					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TGAGGATGCTGAGGCTGTCCT	0.647000													11	42					0	0	1	0	0
ZNF25	219749	broad.mit.edu	37	10	38242687	38242687	+	Splice_Site	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:38242687C>T	ENST00000302609.7	-	5	451		c.e5-1		ZNF25_ENST00000374633.1_Splice_Site	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				CATAGGTCTTCTACAAGGGAA	0.328000													11	21					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535309	124535309	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:124535309G>C	ENST00000408936.3	+	12	2684	c.2502G>C	c.(2500-2502)caG>caC	p.Q834H	DAB2IP_ENST00000309989.1_Missense_Mutation_p.Q710H|DAB2IP_ENST00000259371.2_Missense_Mutation_p.Q806H			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	834					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGTGTACCAGATGGCGGCTG	0.692000													19	41					0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50164047	50164047	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:50164047G>A	ENST00000597198.1	-	7	1402	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	IRF3_ENST00000596765.1_Missense_Mutation_p.R68C|IRF3_ENST00000600022.1_Missense_Mutation_p.R68C|IRF3_ENST00000309877.7_Missense_Mutation_p.R341C|IRF3_ENST00000598808.1_Missense_Mutation_p.R195C|IRF3_ENST00000377139.3_Missense_Mutation_p.R341C|IRF3_ENST00000599223.1_Missense_Mutation_p.R214C|IRF3_ENST00000377135.4_Missense_Mutation_p.R214C|IRF3_ENST00000599144.1_Missense_Mutation_p.R195C|IRF3_ENST00000593922.1_Missense_Mutation_p.R195C|IRF3_ENST00000601291.1_Missense_Mutation_p.T346M|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000600911.1_Intron|IRF3_ENST00000596822.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	341	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		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;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		AGGGCATAGCGTGGTGAGCGT	0.612000													6	7					0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55872944	55872944	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:55872944C>T	ENST00000313503.1	+	1	426	c.426C>T	c.(424-426)ctC>ctT	p.L142L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GGCTCTGCCTCGCTCTCATCA	0.458000										HNSCC(53;0.14)			65	127					0	0	1	0	0
NUDT5	11164	broad.mit.edu	37	10	12209713	12209713	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:12209713G>C	ENST00000491614.1	-	10	1043	c.648C>G	c.(646-648)ttC>ttG	p.F216L	SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000495368.1_Intron|NUDT5_ENST00000537776.1_Missense_Mutation_p.F216L|NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Missense_Mutation_p.F229L			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	216					D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				AAAATTTCAAGAAGGGCACTT	0.423000													32	73					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88405915	88405915	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:88405915G>A	ENST00000419482.2	+	8	1138	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.L338L	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TCTACATGCTGCGGATGCTGA	0.537000													23	39					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50213142	50213142	+	RNA	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:50213142G>T	ENST00000376025.2	-	0	595							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAATAGACATGGTGCTGGACT	0.622000													13	9					1.5842e-08	1.63294e-08	1	1	0
MDP1	145553	broad.mit.edu	37	14	24684863	24684863	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:24684863C>T	ENST00000288087.7	-	3	215	c.104G>A	c.(103-105)gGa>gAa	p.G35E	NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.G52E|NEDD8-MDP1_ENST00000604306.1_5'UTR|MDP1_ENST00000532557.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Missense_Mutation_p.G35E	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						TCGTACAGTTCCATCACTGGA	0.617000											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	99	175					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51159731	51159731	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:51159731C>T	ENST00000414786.2	+	21	3655	c.3428C>T	c.(3427-3429)gCt>gTt	p.A1143V	SHANK3_ENST00000262795.3_Missense_Mutation_p.A1173V|SHANK3_ENST00000445220.2_Missense_Mutation_p.A1159V			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1173										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGTCCCTGGCTTCCCCGGCT	0.706000													12	25					0	0	1	0	0
OR13D1	286365	broad.mit.edu	37	9	107457533	107457533	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:107457533G>C	ENST00000318763.5	+	1	874	c.831G>C	c.(829-831)tcG>tcC	p.S277S		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	277			S -> L (in dbSNP:rs10761073).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CAGCGCACTCGATTGTGGTCA	0.388000													36	72					0	0	1	0	0
LDHD	197257	broad.mit.edu	37	16	75146567	75146567	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:75146567G>C	ENST00000300051.4	-	10	1337	c.1291C>G	c.(1291-1293)Ctg>Gtg	p.L431V	LDHD_ENST00000450168.2_Missense_Mutation_p.L408V	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	431							D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						TTGACCAGCAGGATGCAGTGG	0.602000													17	31					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114389345	114389345	+	Translation_Start_Site	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:114389345G>A	ENST00000343508.3	-	0	37				CSMD3_ENST00000352409.3_Intron|CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000455883.2_Intron	NM_198124.1	NP_937757.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCGGCGTCGTCCGGCTCTC	0.706000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	6					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27825078	27825078	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:27825078G>C	ENST00000396319.2	+	7	910	c.822G>C	c.(820-822)aaG>aaC	p.K274N	TAX1BP1_ENST00000433216.2_Missense_Mutation_p.K117N|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.K274N|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.K274N|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.K274N	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	274					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GTCAGTTGAAGACAGAGAAGG	0.323000													36	57					0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205632310	205632310	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:205632310G>C	ENST00000367145.3	-	3	904	c.609C>G	c.(607-609)ctC>ctG	p.L203L		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	203					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGATGAGGGTGAGCAGGCCAA	0.677000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								13	17					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106602566	106602566	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:106602566C>T	ENST00000369701.3	+	2	871	c.644C>T	c.(643-645)aCg>aTg	p.T215M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	215						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTATCCTGACGAAGCTGTAT	0.463000													27	20					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575094	74575094	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:74575094A>G	ENST00000354431.4	-	5	1042	c.851T>C	c.(850-852)cTt>cCt	p.L284P	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.L284P|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.L176P|LRRIQ3_ENST00000468759.1_5'UTR	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	284										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CCAATATGCAAGCTTTCCTTT	0.269000													9	19					0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86903088	86903088	+	Silent	SNP	T	T	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:86903088T>C	ENST00000376238.4	-	12	1204	c.1155A>G	c.(1153-1155)ccA>ccG	p.P385P	SLC28A3_ENST00000537648.1_Silent_p.P316P|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	385					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AGTGGGAGGATGGAACCTGCA	0.468000													39	34					0	0	1	0	0
NFE2L3	9603	broad.mit.edu	37	7	26224617	26224617	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:26224617C>G	ENST00000056233.3	+	4	1558	c.1299C>G	c.(1297-1299)atC>atG	p.I433M		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	433					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CCTCTGTCATCAAGTCTAATT	0.398000													46	70					0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125562421	125562421	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:125562421C>G	ENST00000277309.2	+	1	52	c.20C>G	c.(19-21)tCt>tGt	p.S7C		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						GCCAATGAGTCTTCAGAGGGA	0.522000													14	22					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123117890	123117890	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:123117890T>A	ENST00000264501.4	+	12	1526	c.1153T>A	c.(1153-1155)Tta>Ata	p.L385I	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L385I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L385I			Q2LD37	K1109_HUMAN	KIAA1109	385					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						TGCTTTTGAATTACGAATGAA	0.303000													23	54					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902620	40902620	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:40902620G>C	ENST00000324001.7	-	7	1909	c.1639C>G	c.(1639-1641)Cag>Gag	p.Q547E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	547	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.E545_P549delEVQLP(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCGGCAGCTGTACCTCTGGA	0.587000													5	269					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444707	49444707	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:49444707G>C	ENST00000301067.7	-	10	2758	c.2759C>G	c.(2758-2760)tCt>tGt	p.S920C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGGCTCCCCAGATGGGGACAA	0.562000													50	84					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654633	99654633	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:99654633A>G	ENST00000292450.4	+	2	168	c.4A>G	c.(4-6)Atg>Gtg	p.M2V	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.M2V|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.M2V	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	2					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTTTACATGATGACCAAGGT	0.517000													88	221					0	0	1	0	0
C1QBP	708	broad.mit.edu	37	17	5337061	5337061	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:5337061G>A	ENST00000225698.4	-	4	585	c.504C>T	c.(502-504)ttC>ttT	p.F168F	C1QBP_ENST00000574444.1_Silent_p.F64F	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	168					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						CTTCAACCACGAAATTGGGAG	0.468000													23	61					0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738613	12738613	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:12738613G>A	ENST00000343325.4	+	4	432	c.270G>A	c.(268-270)gtG>gtA	p.V90V	ZNF791_ENST00000446165.1_Silent_p.*70*|ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000458122.3_Silent_p.V58V|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	90	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ATCTCAGTGTGACGAAGAAGA	0.448000													60	140					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429656	135429656	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:135429656C>T	ENST00000394143.1	+	6	4082	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F	GPR112_ENST00000412101.1_Missense_Mutation_p.S1059F|GPR112_ENST00000394141.1_Missense_Mutation_p.S1059F|GPR112_ENST00000370652.1_Missense_Mutation_p.S1264F|GPR112_ENST00000287534.4_Missense_Mutation_p.S1201F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1264					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATGACCATATCCCTGGGAAAA	0.443000													17	40					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53289659	53289659	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:53289659G>C	ENST00000566029.1	+	19	4386	c.4177G>C	c.(4177-4179)Gaa>Caa	p.E1393Q	CHD9_ENST00000447540.1_Missense_Mutation_p.E1393Q|CHD9_ENST00000398510.3_Missense_Mutation_p.E1393Q|CHD9_ENST00000564845.1_Missense_Mutation_p.E1393Q			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1393					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TATTACAATTGAATCAGAAGG	0.368000													56	104					0	0	1	0	0
PLCH2	9651	broad.mit.edu	37	1	2411336	2411336	+	Silent	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:2411336C>A	ENST00000449969.1	+	3	515	c.354C>A	c.(352-354)acC>acA	p.T118T	PLCH2_ENST00000378486.3_Silent_p.T145T|PLCH2_ENST00000419816.2_Silent_p.T145T|PLCH2_ENST00000378488.3_Silent_p.T145T|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	145	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGGCGCGCACCTGGGTCACTG	0.667000													21	58					1.64113e-05	1.666e-05	1	1	0
ASXL1	171023	broad.mit.edu	37	20	31023208	31023208	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:31023208G>A	ENST00000375687.4	+	13	3117	c.2693G>A	c.(2692-2694)tGg>tAg	p.W898*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.W893*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	898					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCTTTGCATTGGATACCCATC	0.473000			"""F, N, Mis"""		"""MDS, CMML"""								43	76					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999083	144999083	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:144999083C>T	ENST00000322810.4	-	31	5594	c.5425G>A	c.(5425-5427)Gag>Aag	p.E1809K	PLEC_ENST00000527096.1_Missense_Mutation_p.E1695K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1672K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1658K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1650K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1676K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1672K|PLEC_ENST00000436759.2_Missense_Mutation_p.E1699K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1640K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1809	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCCGCGCCTCGCGCTCCGCC	0.726000													7	23					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023157	31023157	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:31023157G>C	ENST00000375687.4	+	13	3066	c.2642G>C	c.(2641-2643)aGa>aCa	p.R881T	ASXL1_ENST00000306058.5_Missense_Mutation_p.R876T	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	881				TRQ -> ASE (in Ref. 6; CAB56029).	chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.R881fs*13(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGTGATACTAGACAAGAAAAC	0.458000			"""F, N, Mis"""		"""MDS, CMML"""								67	99					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915022	119915022	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:119915022C>T	ENST00000331113.4	+	1	1301	c.336C>T	c.(334-336)atC>atT	p.I112I		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	112					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACGAGTGCATCTCTGCTTACG	0.527000													72	152					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229785	140229785	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:140229785C>T	ENST00000378122.3	+	1	2429	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R569W|PCDHA4_ENST00000530339.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGACACCTCGGATGAGGGG	0.711000													63	105					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48573745	48573745	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:48573745A>C	ENST00000340553.3	+	3	653	c.392A>C	c.(391-393)aAa>aCa	p.K131T		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	131					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TCTCCAAATAAATGTTTGCCT	0.408000													63	139					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3176073	3176073	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:3176073C>T	ENST00000356443.4	-	6	1322	c.989G>A	c.(988-990)aGt>aAt	p.S330N	MYOM1_ENST00000261606.7_Missense_Mutation_p.S330N|MYOM1_ENST00000400569.3_Missense_Mutation_p.S330N	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	330	Ig-like C2-type 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCATATCGACTCTCAATAAT	0.408000													6	33					0	0	1	0	0
FBXL14	144699	broad.mit.edu	37	12	1702312	1702312	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:1702312G>C	ENST00000339235.3	-	1	1019	c.921C>G	c.(919-921)ctC>ctG	p.L307L	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	307						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			AGAGAGACTTGAGGCCATCCA	0.602000													4	105					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114165595	114165595	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:114165595C>T	ENST00000369615.1	+	9	1401	c.1339C>T	c.(1339-1341)Cag>Tag	p.Q447*	MAGI3_ENST00000307546.9_Nonsense_Mutation_p.Q447*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.Q472*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.Q447*	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	472	Interaction with PTEN.|PDZ 2.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCGCAGCTCAGGATGGGAA	0.328000													13	15					0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927606	6927606	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:6927606C>A	ENST00000293805.5	+	3	476	c.384C>A	c.(382-384)caC>caA	p.H128Q	BCL6B_ENST00000572216.1_3'UTR	NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	128						nucleus	zinc ion binding			skin(1)	1						AGGCATGCCACCGCTTCATCC	0.592000													89	36					1.68737e-39	1.88423e-39	1	1	0
MUC16	94025	broad.mit.edu	37	19	9071094	9071094	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:9071094G>C	ENST00000397910.4	-	3	16555	c.16352C>G	c.(16351-16353)cCt>cGt	p.P5451R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5453	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTCATCAGAGGTGTGGCTTT	0.488000													4	223					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28380751	28380751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:28380751G>A	ENST00000261609.7	-	79	12211	c.12103C>T	c.(12103-12105)Cag>Tag	p.Q4035*		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4035					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AACACATGCTGAATGGATTCA	0.483000													33	61					0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13136140	13136140	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:13136140G>A	ENST00000358552.3	+	1	330	c.330G>A	c.(328-330)aaG>aaA	p.K110K	NFIX_ENST00000587760.1_Silent_p.K103K|NFIX_ENST00000587260.1_Silent_p.K110K|NFIX_ENST00000397661.2_Silent_p.K111K|NFIX_ENST00000585575.1_Silent_p.K103K|NFIX_ENST00000360105.4_Silent_p.K114K|NFIX_ENST00000592199.1_Silent_p.K111K|NFIX_ENST00000588228.1_Silent_p.K64K			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	111					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.K111K(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCGACCAGAAGGGCAAGATCC	0.617000													29	49					0	0	1	0	0
TFAP2A	7020	broad.mit.edu	37	6	10398657	10398657	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:10398657C>T	ENST00000379613.3	-	7	1569	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K	TFAP2A_ENST00000482890.1_Missense_Mutation_p.R436K|TFAP2A_ENST00000379608.3_Missense_Mutation_p.R430K|TFAP2A_ENST00000379604.2_Missense_Mutation_p.R436K|TFAP2A_ENST00000319516.4_Missense_Mutation_p.R432K			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	436					ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GCCTCACTTTCTGTGCTTCTC	0.637000													130	203					0	0	1	0	0
OBP2B	29989	broad.mit.edu	37	9	136083938	136083938	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:136083938C>T	ENST00000372034.3	-	2	165	c.124G>A	c.(124-126)Gag>Aag	p.E42K	OBP2B_ENST00000372032.2_Intron|OBP2B_ENST00000461961.1_Intron	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	42					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CTCCTGTCCTCCGGAAAGTCC	0.607000													14	14					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1639389	1639389	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:1639389C>T	ENST00000409644.1	+	9	5382	c.5382C>T	c.(5380-5382)atC>atT	p.I1794I	WDR81_ENST00000446363.1_Silent_p.I433I|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.I567I|WDR81_ENST00000309182.5_Silent_p.I743I|WDR81_ENST00000437219.2_Silent_p.I591I|WDR81_ENST00000545662.1_Silent_p.I425I	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	567										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCTGGCCATCAGCCCCAGTG	0.677000													29	64					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27058000	27058000	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:27058000C>A	ENST00000324856.7	+	3	2079	c.1708C>A	c.(1708-1710)Ccc>Acc	p.P570T	ARID1A_ENST00000457599.2_Missense_Mutation_p.P570T|ARID1A_ENST00000374152.2_Missense_Mutation_p.P187T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	570					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCAGCCAGCACCCTCGACGCT	0.637000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								109	238					3.77807e-37	4.20134e-37	1	1	0
LPIN1	23175	broad.mit.edu	37	2	11911569	11911569	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:11911569G>A	ENST00000256720.2	+	4	453	c.360G>A	c.(358-360)ctG>ctA	p.L120L	LPIN1_ENST00000425416.2_Silent_p.L126L|LPIN1_ENST00000449576.2_Silent_p.L169L|LPIN1_ENST00000396099.1_Silent_p.L126L|LPIN1_ENST00000396098.1_Silent_p.L126L	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	120					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AATGCCAGCTGAAAAGGGGCT	0.532000													19	38					0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153431471	153431471	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:153431471C>G	ENST00000368723.3	-	2	129	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	S100A7_ENST00000368722.1_Missense_Mutation_p.E7Q	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	7					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATGGACCTCTCAGCTTGAGTG	0.408000													43	79					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111691212	111691212	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:111691212G>C	ENST00000389811.4	+	12	1276	c.1052G>C	c.(1051-1053)gGa>gCa	p.G351A	ACOXL_ENST00000439055.1_Missense_Mutation_p.G351A			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	351					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GAGTGCACTGGAGGCATGGTG	0.652000													4	16					0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90578437	90578437	+	RNA	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:90578437G>C	ENST00000551025.1	+	0	6865							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTAAAAAAAGATGAGTTAAA	0.378000													12	31					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994683	140994683	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chrX:140994683C>A	ENST00000285879.4	+	4	1779	c.1493C>A	c.(1492-1494)tCc>tAc	p.S498Y	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	498							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAGTTCCCCTGAGTGT	0.498000										HNSCC(15;0.026)			94	44					4.08182e-41	4.57711e-41	1	1	0
FREM1	158326	broad.mit.edu	37	9	14784497	14784497	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:14784497C>T	ENST00000380881.4	-	25	5131	c.4316G>A	c.(4315-4317)cGa>cAa	p.R1439Q	FREM1_ENST00000380880.3_Missense_Mutation_p.R1438Q|FREM1_ENST00000422223.2_Missense_Mutation_p.R1438Q			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1438					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGGCCATATCGCGGAGGGGA	0.488000													11	17					0	0	1	0	0
GDF7	151449	broad.mit.edu	37	2	20871119	20871119	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:20871119C>T	ENST00000272224.3	+	2	1863	c.1287C>T	c.(1285-1287)gaC>gaT	p.D429D		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	429					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTACATCGACGCCGCCAACA	0.667000													13	30					0	0	1	0	0
SMPD1	6609	broad.mit.edu	37	11	6414491	6414491	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:6414491C>T	ENST00000342245.4	+	3	1305	c.1137C>T	c.(1135-1137)ctC>ctT	p.L379L	SMPD1_ENST00000527275.1_Silent_p.L378L|SMPD1_ENST00000299397.3_Intron|SMPD1_ENST00000356761.2_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	377			S -> P (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	GTCTCCGCCTCATCTCTCTCA	0.512000													14	15					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140970298	140970298	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:140970298G>T	ENST00000277549.5	+	35	5036	c.2467G>T	c.(2467-2469)Gac>Tac	p.D823Y	CACNA1B_ENST00000277551.2_Missense_Mutation_p.D1629Y|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D1627Y|CACNA1B_ENST00000371355.4_Missense_Mutation_p.D1630Y|CACNA1B_ENST00000371365.2_5'UTR|CACNA1B_ENST00000371372.1_Missense_Mutation_p.D1629Y|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D1628Y			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1629					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTGGATGATGACACCAGCAT	0.577000													9	12					0.000673444	0.000673444	1	1	0
COX19	90639	broad.mit.edu	37	7	1015140	1015140	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:1015140C>G	ENST00000344111.3	-	1	95	c.6G>C	c.(4-6)tcG>tcC	p.S2S		NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)	2						cytosol				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		TCATGGCGGTCGACATGTTGG	0.706000													12	26					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806267	22806267	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:22806267G>T	ENST00000361524.3	-	4	1763	c.1615C>A	c.(1615-1617)Ctc>Atc	p.L539I	ZNF521_ENST00000538137.2_Missense_Mutation_p.L539I|ZNF521_ENST00000584787.1_Missense_Mutation_p.L319I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	539					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGCCACTGAGGTCACAATGA	0.433000			T	PAX5	ALL								27	84					9.80776e-20	1.06849e-19	1	1	0
U2SURP	23350	broad.mit.edu	37	3	142735173	142735173	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:142735173G>C	ENST00000473835.2	+	5	486	c.396G>C	c.(394-396)gtG>gtC	p.V132V	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Silent_p.V132V	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	132					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GTAATAAAGTGAAAACATTTG	0.348000													47	163					0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3768691	3768691	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:3768691G>C	ENST00000330055.5	+	1	567	c.358G>C	c.(358-360)Ggg>Cgg	p.G120R	ADRA2C_ENST00000509482.1_Missense_Mutation_p.G120R	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	120					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTGGTACTTCGGGCAGGTGTG	0.622000													14	26					0	0	1	0	0
C5	727	broad.mit.edu	37	9	123751969	123751969	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:123751969C>T	ENST00000223642.1	-	24	3060	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1011					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTCATCAGCTCCGCCTCTGCA	0.433000													17	26					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401247	89401247	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:89401247G>A	ENST00000439576.2	+	12	5805	c.5431G>A	c.(5431-5433)Gga>Aga	p.G1811R	ACAN_ENST00000561243.1_Missense_Mutation_p.G1811R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1811R|ACAN_ENST00000559004.1_Missense_Mutation_p.G1811R	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1811					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCAACATCAGGAGTCCCTGA	0.522000													7	27					0	0	1	0	0
C1orf87	127795	broad.mit.edu	37	1	60521104	60521104	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:60521104C>A	ENST00000371201.3	-	3	221	c.114G>T	c.(112-114)gaG>gaT	p.E38D	C1orf87_ENST00000450089.2_Missense_Mutation_p.E38D	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	38							calcium ion binding	p.E38E(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCTGTCATTCTCCTTGCTGT	0.423000													20	51					1.56452e-12	1.65076e-12	1	1	0
CDNF	441549	broad.mit.edu	37	10	14867593	14867593	+	Translation_Start_Site	SNP	G	G	A	rs147677694		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:14867593G>A	ENST00000378442.1	-	0	467				CDNF_ENST00000378441.2_Intron			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor							extracellular region	growth factor activity			breast(2)|large_intestine(2)|lung(1)	5						TTGTGGCTGCGTCTTTTGTGG	0.413000													47	91					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36964027	36964027	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:36964027C>A	ENST00000262865.4	+	14	1465	c.1376C>A	c.(1375-1377)cCg>cAg	p.P459Q	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	459					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TTCCCTCTCCCGACGCCGGCC	0.557000													37	87					9.14704e-12	9.57581e-12	1	1	0
AADAC	13	broad.mit.edu	37	3	151545457	151545457	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:151545457C>G	ENST00000232892.6	+	5	823	c.697C>G	c.(697-699)Caa>Gaa	p.Q233E	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	233					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACCGTCATATCAAGAAAATTC	0.368000													21	83					0	0	1	0	0
SMPDL3B	27293	broad.mit.edu	37	1	28282329	28282329	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:28282329C>T	ENST00000373894.3	+	6	1016	c.825C>T	c.(823-825)ttC>ttT	p.F275F	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.F227F|SMPDL3B_ENST00000373888.4_Silent_p.F275F	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	275					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	p.F275F(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGCAGTTCTTCGGGCACCACC	0.547000													12	46					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211668	17211668	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:17211668G>T	ENST00000261381.6	-	11	2476	c.2392C>A	c.(2392-2394)Ctc>Atc	p.L798I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	798					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GACTCAATGAGGATGTCGTAG	0.562000													28	56					6.07407e-21	6.64429e-21	1	1	0
RBM8A	9939	broad.mit.edu	37	1	145508209	145508209	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:145508209G>C	ENST00000330165.7	+	3	199	c.130G>C	c.(130-132)Gag>Cag	p.E44Q	RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RBM8A_ENST00000369307.3_Splice_Site|RP11-315I20.1_ENST00000447686.2_RNA	NM_005105.3	NP_005096.1	Q9Y5S9	RBM8A_HUMAN	RNA binding motif protein 8A	44					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTTATAGAAGAGGGGTCCCG	0.547000											OREG0013748	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	56					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71518633	71518633	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:71518633C>T	ENST00000304743.2	+	24	4927	c.4481C>T	c.(4480-4482)tCg>tTg	p.S1494L	PCNX_ENST00000238570.5_Missense_Mutation_p.S1494L|PCNX_ENST00000439984.3_Missense_Mutation_p.S1383L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1494						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GCTGCTGTCTCGGCCTTCTTC	0.448000													70	135					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38296830	38296830	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:38296830C>T	ENST00000264645.7	+	1	255	c.29C>T	c.(28-30)tCg>tTg	p.S10L		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	10					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	p.S10L(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CAGCGCGCTTCGCAAGACACC	0.726000													29	533					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28989738	28989738	+	Missense_Mutation	SNP	G	G	T	rs147049549	by1000genomes	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:28989738G>T	ENST00000308128.4	+	14	2239	c.2104G>T	c.(2104-2106)Gcc>Tcc	p.A702S	DSG4_ENST00000359747.4_Intron|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	702					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACCCATGACAGCCTCAAATAC	0.328000													16	33					2.39187e-15	2.53368e-15	1	1	0
LCE5A	254910	broad.mit.edu	37	1	152484287	152484287	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:152484287G>A	ENST00000334269.2	+	2	453	c.277G>A	c.(277-279)Ggc>Agc	p.G93S		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	93	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTGGCAGTGGCCAGCAGTC	0.687000													26	40					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	746095	746095	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:746095G>A	ENST00000381944.3	-	2	565	c.324C>T	c.(322-324)ttC>ttT	p.F108F	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.F108F			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	108					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										TGAGGACCAAGAAGGCGATGC	0.592000													10	14					0	0	1	0	0
DENND6B	414918	broad.mit.edu	37	22	50750780	50750780	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:50750780C>T	ENST00000413817.2	-	19	1698	c.1627G>A	c.(1627-1629)Gag>Aag	p.E543K		NM_001001794.3	NP_001001794.3			DENN/MADD domain containing 6B																		ACCAGCTTCTCACGAAGTTTC	0.622000													14	20					0	0	1	0	0
LRRC39	127495	broad.mit.edu	37	1	100618068	100618068	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:100618068G>A	ENST00000370138.1	-	9	1023	c.825C>T	c.(823-825)ttC>ttT	p.F275F	LRRC39_ENST00000370137.1_Silent_p.F275F|LRRC39_ENST00000342895.3_Silent_p.F275F	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	275								p.F275F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GGTTGTCTCTGAAGTTGACAA	0.373000													28	63					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36562515	36562515	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:36562515G>A	ENST00000401500.2	+	8	975	c.940G>A	c.(940-942)Gat>Aat	p.D314N	WDR62_ENST00000388999.3_Missense_Mutation_p.D314N|WDR62_ENST00000270301.7_Missense_Mutation_p.D314N|WDR62_ENST00000378860.4_3'UTR	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	314					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGCTGCACAGATGGGATAGT	0.597000													41	58					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29314085	29314085	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:29314085G>C	ENST00000343067.4	+	2	263	c.136G>C	c.(136-138)Gat>Cat	p.D46H	EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000373797.1_Missense_Mutation_p.D46H|EPB41_ENST00000356093.2_Missense_Mutation_p.D46H|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.D46H|EPB41_ENST00000347529.3_Missense_Mutation_p.D46H|EPB41_ENST00000373798.1_Missense_Mutation_p.D46H	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	46					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AGCTGAAGGAGATAATTGGTG	0.463000													65	147					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1902732	1902732	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:1902732C>T	ENST00000503128.1	+	2	558	c.351C>T	c.(349-351)atC>atT	p.I117I	WHSC1_ENST00000508803.1_Silent_p.I117I|WHSC1_ENST00000436793.1_Silent_p.I117I|WHSC1_ENST00000382895.3_Silent_p.I117I|WHSC1_ENST00000420906.2_Silent_p.I117I|WHSC1_ENST00000382891.5_Silent_p.I117I|WHSC1_ENST00000398261.1_Silent_p.I117I|WHSC1_ENST00000382892.2_Silent_p.I117I|WHSC1_ENST00000514045.1_Silent_p.I117I			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	117					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTACCCCTATCAAAAATGGCT	0.473000			T	IGH@	MM								20	49					0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145850294	145850294	+	Missense_Mutation	SNP	A	A	G	rs143498728	byFrequency	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:145850294A>G	ENST00000296702.5	+	8	1533	c.1495A>G	c.(1495-1497)Ata>Gta	p.I499V	TCERG1_ENST00000394421.2_Missense_Mutation_p.I478V	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	499	Glu-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGAGCCTATAAAGGAGAT	0.418000													18	29					0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21989383	21989383	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:21989383C>G	ENST00000292779.3	+	4	1192	c.1031C>G	c.(1030-1032)tCa>tGa	p.S344*		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	344										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GAGCCCACCTCAGATCTGCCG	0.662000													22	57					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77709309	77709309	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:77709309C>G	ENST00000298351.4	+	15	1395	c.1251C>G	c.(1249-1251)ctC>ctG	p.L417L		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	417						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		ACACCTTCCTCTTCTTCCTCT	0.532000													17	46					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37626126	37626126	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr21:37626126C>G	ENST00000399151.3	+	23	5263	c.5178C>G	c.(5176-5178)ctC>ctG	p.L1726L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1726					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGTGTGCACTCAGCACCCTGC	0.527000													38	73					0	0	1	0	0
SLC25A23	79085	broad.mit.edu	37	19	6454339	6454339	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:6454339C>T	ENST00000301454.4	-	6	896	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	SLC25A23_ENST00000334510.5_Missense_Mutation_p.E264K|SLC25A23_ENST00000414491.2_Missense_Mutation_p.E81K	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	264					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						CTCACCTGTTCATAGGCCATG	0.532000													115	126					0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16335342	16335342	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:16335342G>A	ENST00000338560.7	+	12	2116	c.1717G>A	c.(1717-1719)Gag>Aag	p.E573K	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.E143K	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	573					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAATGCCACAGAGTCAGTGCA	0.622000													31	53					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71512660	71512660	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:71512660C>A	ENST00000370924.4	-	1	831	c.601G>T	c.(601-603)Gtc>Ttc	p.V201F	PTGER3_ENST00000370931.3_Missense_Mutation_p.V201F|PTGER3_ENST00000414819.1_Missense_Mutation_p.V201F|PTGER3_ENST00000354608.5_Missense_Mutation_p.V201F|PTGER3_ENST00000370932.2_Missense_Mutation_p.V201F|PTGER3_ENST00000460330.1_Missense_Mutation_p.V201F|PTGER3_ENST00000351052.5_Missense_Mutation_p.V201F|PTGER3_ENST00000356595.4_Missense_Mutation_p.V201F|PTGER3_ENST00000306666.5_Missense_Mutation_p.V201F	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	201					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGCCACTGGACGGTGTACTGG	0.672000													22	68					2.81731e-10	2.9379e-10	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40398454	40398454	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:40398454G>T	ENST00000221347.6	-	14	6520	c.6513C>A	c.(6511-6513)caC>caA	p.H2171Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2171	VWFD 5.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCCGCTCAGGTGTGCGTGCA	0.682000													8	67					1.33834e-09	1.38484e-09	1	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622000													29	48					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101881863	101881863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:101881863C>A	ENST00000251127.6	-	13	1588	c.1507G>T	c.(1507-1509)Gga>Tga	p.G503*	NALCN_ENST00000376196.3_Nonsense_Mutation_p.G503*|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	503						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCTTTTTTCCAGGACCAAAT	0.398000													50	91					1.38658e-30	1.52923e-30	1	1	0
SLC38A10	124565	broad.mit.edu	37	17	79220344	79220344	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:79220344C>T	ENST00000374759.3	-	16	2755	c.2372G>A	c.(2371-2373)cGc>cAc	p.R791H		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	791					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGGAGCAGGGCGGCCCCCAGG	0.682000													30	53					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849884	54849884	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:54849884G>C	ENST00000291759.4	-	3	194	c.138C>G	c.(136-138)acC>acG	p.T46T		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	46	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GACACCAGATGGTCACGGGGT	0.527000											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	80					0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	182937677	182937677	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:182937677C>G	ENST00000328913.3	-	21	2634	c.2337G>C	c.(2335-2337)gaG>gaC	p.E779D	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E779D	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	779	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGGGTCTATCTCCATATCTT	0.373000													35	81					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183526931	183526931	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:183526931T>C	ENST00000305135.5	+	30	4328	c.4133T>C	c.(4132-4134)gTt>gCt	p.V1378A		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1378					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCTTTGGCAGTTGGATACCAG	0.458000													103	136					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903387	6903387	+	Silent	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:6903387G>T	ENST00000486284.1	+	1	586	c.312G>T	c.(310-312)cgG>cgT	p.R104R	GRM7_ENST00000357716.4_Silent_p.R104R|GRM7_ENST00000389336.4_Silent_p.R104R|GRM7_ENST00000402647.2_Silent_p.R104R|GRM7_ENST00000403881.1_Silent_p.R104R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	104					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGGCGCGCGGATCCTGGACA	0.597000													11	16					1.58986e-06	1.62009e-06	1	1	0
C18orf8	29919	broad.mit.edu	37	18	21099089	21099089	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:21099089C>T	ENST00000269221.3	+	9	910	c.800C>T	c.(799-801)gCc>gTc	p.A267V	C18orf8_ENST00000590868.1_Missense_Mutation_p.A219V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	267										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGAAAGTTTGCCCTGAACGTG	0.428000													4	103					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668239	176668239	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:176668239C>T	ENST00000367662.3	+	8	3914	c.2750C>T	c.(2749-2751)cCt>cTt	p.P917L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	917					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCCCAGGGCCTCCTGATGTG	0.537000													41	60					0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145155960	145155960	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:145155960G>C	ENST00000558170.2	-	8	3978	c.2794C>G	c.(2794-2796)Cta>Gta	p.L932V	ZEB2_ENST00000539609.3_Missense_Mutation_p.L908V|ZEB2_ENST00000409487.3_Missense_Mutation_p.L932V|ZEB2_ENST00000303660.4_Missense_Mutation_p.L932V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	932						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATATGTGGTAGGAAGCTCATC	0.502000													49	93					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121206688	121206688	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:121206688G>A	ENST00000264233.5	-	16	5218	c.5090C>T	c.(5089-5091)tCt>tTt	p.S1697F		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1697					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCATTATTAGAAGAAAATGA	0.308000								DNA polymerases (catalytic subunits)					40	66					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42522658	42522658	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:42522658C>A	ENST00000360608.5	-	9	1526	c.1412G>T	c.(1411-1413)gGa>gTa	p.G471V	NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.G420V|CYP2D6_ENST00000389970.3_Missense_Mutation_p.G471V|NDUFA6-AS1_ENST00000416037.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	471							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGGGCTGTCCAGTGGGCAC	0.637000													9	11					0.000442599	0.00044761	1	1	0
CD109	135228	broad.mit.edu	37	6	74524817	74524817	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:74524817C>G	ENST00000437994.2	+	30	4262	c.3831C>G	c.(3829-3831)ctC>ctG	p.L1277L	CD109_ENST00000287097.5_Silent_p.L1294L|CD109_ENST00000422508.2_Silent_p.L1217L	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1294						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGATGATCTCAATCATGTGG	0.328000													18	16					0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21843138	21843138	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:21843138G>A	ENST00000434536.1	+	13	1642	c.1540G>A	c.(1540-1542)Ggt>Agt	p.G514S	XPO7_ENST00000433566.4_Missense_Mutation_p.G506S|XPO7_ENST00000252512.9_Missense_Mutation_p.G505S			Q9UIA9	XPO7_HUMAN	exportin 7	505					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGCAGTGATCGGTGGCCGGGT	0.527000													56	55					0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104373818	104373818	+	Missense_Mutation	SNP	G	G	A	rs149084574		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:104373818G>A	ENST00000392872.3	+	3	610	c.376G>A	c.(376-378)Gat>Aat	p.D126N	TDG_ENST00000542036.1_5'UTR|TDG_ENST00000544861.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.D122N	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	126					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GACTCTCCCCGATATTTTGAC	0.353000								Base excision repair (BER), DNA glycosylases					24	28					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21639551	21639551	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:21639551G>C	ENST00000328843.6	+	15	2845	c.2814G>C	c.(2812-2814)ttG>ttC	p.L938F	DNAH11_ENST00000409508.3_Missense_Mutation_p.L938F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	938	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAACAATTGAAACCGGCAC	0.403000									Kartagener syndrome				4	40					0	0	1	0	0
C5orf58	133874	broad.mit.edu	37	5	169672989	169672989	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:169672989G>C	ENST00000521850.1	+	3	1870	c.181G>C	c.(181-183)Gac>Cac	p.D61H	C5orf58_ENST00000593851.1_Missense_Mutation_p.D61H|C5orf58_ENST00000517575.1_Intron			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	61										large_intestine(1)|lung(4)|urinary_tract(1)	6						ATTGCTTTGTGACCTTATCCT	0.343000													25	71					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156175318	156175318	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:156175318G>A	ENST00000302490.8	+	4	1251	c.380G>A	c.(379-381)gGa>gAa	p.G127E	KCNAB1_ENST00000490337.1_Missense_Mutation_p.G145E|KCNAB1_ENST00000471742.1_Missense_Mutation_p.G134E|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G127E|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G145E	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	145						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TATGCTGCTGGAAAGTAAGTC	0.473000													29	153					0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43618486	43618486	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:43618486C>T	ENST00000292246.3	-	6	1030	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ANO10_ENST00000350459.4_Intron|ANO10_ENST00000414522.2_Missense_Mutation_p.G287E|ANO10_ENST00000396091.3_Missense_Mutation_p.G221E|ANO10_ENST00000451430.2_Missense_Mutation_p.G176E	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	287					cell death	chloride channel complex	chloride channel activity	p.G287E(1)		NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ACCATGAAATCCTGGCCGGGG	0.542000													34	20					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6620227	6620227	+	Silent	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:6620227G>T	ENST00000264670.6	-	7	1118	c.807C>A	c.(805-807)gtC>gtA	p.V269V	NSUN2_ENST00000539938.1_Silent_p.V33V|NSUN2_ENST00000506139.1_Silent_p.V234V	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	269						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACCTGCAAGGGACATCACATA	0.408000													18	57					0.000566183	0.00057044	1	1	0
ZNF284	342909	broad.mit.edu	37	19	44589927	44589927	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:44589927C>G	ENST00000421176.3	+	5	512	c.296C>G	c.(295-297)tCt>tGt	p.S99C	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				GAAGAGTGGTCTTGCCAGCAA	0.463000													39	50					0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15131272	15131272	+	Splice_Site	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:15131272G>A	ENST00000292574.3	+	3	757		c.e3-1			NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105						microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCCCACCCAGACCCTGGCCT	0.572000													16	19					0	0	1	0	0
SRSF3	6428	broad.mit.edu	37	6	36566676	36566676	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:36566676G>C	ENST00000373715.6	+	3	373	c.257G>C	c.(256-258)aGa>aCa	p.R86T	SRSF3_ENST00000339436.7_Missense_Mutation_p.R86T	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	86	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GGTGAAAAAAGAAGTAGAAAT	0.498000													41	66					0	0	1	0	0
MDP1	145553	broad.mit.edu	37	14	24684830	24684830	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:24684830C>G	ENST00000288087.7	-	3	248	c.137G>C	c.(136-138)cGa>cCa	p.R46P	NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.R63P|NEDD8-MDP1_ENST00000604306.1_5'UTR|MDP1_ENST00000532557.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000396833.2_Missense_Mutation_p.R46P	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						TGGGTACAGTCGGACGTCTTG	0.597000											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	113	218					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086551	144086551	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:144086551A>G	ENST00000427704.2	+	6	945	c.815A>G	c.(814-816)aAg>aGg	p.K272R	PHACTR2_ENST00000367582.3_Missense_Mutation_p.K203R|PHACTR2_ENST00000440869.2_Missense_Mutation_p.K283R|PHACTR2_ENST00000305766.6_Missense_Mutation_p.K192R|PHACTR2_ENST00000367584.4_Missense_Mutation_p.K260R	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	272							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AAAACTGACAAGCAGCCAATA	0.502000													12	96					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89653781	89653781	+	Splice_Site	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:89653781G>C	ENST00000371953.3	+	2	1436		c.e2-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(4)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGTACTCAGATATTTATCC	0.303000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			17	16					0	0	1	0	0
THEMIS2	9473	broad.mit.edu	37	1	28203138	28203138	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:28203138C>T	ENST00000373921.3	+	2	138	c.134C>T	c.(133-135)tCc>tTc	p.S45F	THEMIS2_ENST00000373927.3_Missense_Mutation_p.S45F|THEMIS2_ENST00000328928.7_Missense_Mutation_p.S45F|THEMIS2_ENST00000373925.1_Missense_Mutation_p.S45F	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2																		TGCTGCCTCTCCACGGGGGAC	0.602000													50	74					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629426	47629426	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:47629426G>A	ENST00000546455.1	+	4	1311	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	PCED1B_ENST00000432328.1_Missense_Mutation_p.V194I					PC-esterase domain containing 1B																		AAACGAAGTGGTCAAAGCCAA	0.582000													10	20					0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34512084	34512084	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:34512084G>A	ENST00000374037.3	-	2	563	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SPDEF_ENST00000544425.1_Missense_Mutation_p.T50M	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	50					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CTGCTCGGGCGTGGCGGGTGG	0.687000													24	58					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910607	29910607	+	Silent	SNP	G	G	C	rs72555397		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:29910607G>C	ENST00000396634.1	+	4	488	c.147G>C	c.(145-147)gtG>gtC	p.V49V	HLA-A_ENST00000376809.5_Silent_p.V49V|HLA-A_ENST00000376802.2_Silent_p.V49V|HLA-A_ENST00000376806.5_Silent_p.V49V			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	49	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.V49V(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TCATCGCCGTGGGCTACGTGG	0.692000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			5	50					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22369190	22369190	+	Silent	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:22369190G>T	ENST00000332663.2	+	1	713	c.615G>T	c.(613-615)ctG>ctT	p.L205L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTAGTGGTCTGATCTCTGTGG	0.468000													45	113					9.52127e-25	1.04578e-24	1	1	0
MACF1	23499	broad.mit.edu	37	1	39800890	39800890	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:39800890C>G	ENST00000564288.1	+	37	9407	c.8630C>G	c.(8629-8631)tCc>tGc	p.S2877C	MACF1_ENST00000567887.1_Missense_Mutation_p.S2914C|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.S1317C|MACF1_ENST00000372915.3_Missense_Mutation_p.S2882C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2882					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGGTAAATCCTTGGGCCAA	0.353000													24	44					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	RNA	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TTGCTCAGGACACTCAAGGCC	0.557000													4	168					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179452442	179452442	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:179452442C>T	ENST00000589042.1	-	306	63818	c.63594G>A	c.(63592-63594)gtG>gtA	p.V21198V	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.V12258V|TTN_ENST00000460472.2_Silent_p.V12133V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.V19557V|TTN_ENST00000342175.6_Silent_p.V12325V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Silent_p.V18630V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19557							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGTCCTCTCACTATAGCAA	0.463000													20	25					0	0	1	0	0
MAGI1	9223	broad.mit.edu	37	3	65387126	65387126	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:65387126C>G	ENST00000330909.8	-	13	2186	c.2187G>C	c.(2185-2187)aaG>aaC	p.K729N	MAGI1_ENST00000497477.2_Missense_Mutation_p.K729N|MAGI1_ENST00000483466.1_Missense_Mutation_p.K729N|MAGI1_ENST00000402939.2_Missense_Mutation_p.K729N	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	729					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACTTTGGGCTCTTCTTGGGAA	0.512000													3	3					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16882430	16882430	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:16882430C>G	ENST00000377833.4	-	62	9996	c.9931G>C	c.(9931-9933)Gat>Cat	p.D3311H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3311	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGGGGAATCAATGACCCAA	0.473000													13	38					0	0	1	0	0
FAM71E1	112703	broad.mit.edu	37	19	50978706	50978706	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:50978706G>A	ENST00000600100.1	-	3	779	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	FAM71E1_ENST00000595790.1_Missense_Mutation_p.R123W			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	139										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		TCTCCCAACCGAGTCACCTGG	0.612000													10	20					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14794080	14794080	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:14794080G>C	ENST00000261170.3	-	18	2140	c.2004C>G	c.(2002-2004)atC>atG	p.I668M		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	668	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTGTGCGATGATCCCATAGC	0.493000													23	74					0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	133682384	133682384	+	Silent	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:133682384G>C	ENST00000253861.4	+	15	2375	c.2346G>C	c.(2344-2346)gtG>gtC	p.V782V	EXOC4_ENST00000545148.1_Silent_p.V392V|EXOC4_ENST00000539845.1_Silent_p.V681V|EXOC4_ENST00000541309.1_Silent_p.V70V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	782					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATCTGGAAGTGAGGTATGATA	0.478000													8	19					0	0	1	0	0
APOM	55937	broad.mit.edu	37	6	31625865	31625865	+	Nonstop_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:31625865G>C	ENST00000375916.3	+	6	1062	c.566G>C	c.(565-567)tGa>tCa	p.*189S	APOM_ENST00000375920.4_Nonstop_Mutation_p.*117S	NM_019101.2	NP_061974.2	O95445	APOM_HUMAN	apolipoprotein M	0					cholesterol efflux|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|negative regulation of plasma lipoprotein particle oxidation|reverse cholesterol transport	discoidal high-density lipoprotein particle|integral to plasma membrane|low-density lipoprotein particle|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	binding|lipid transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(1)	7						TCCAATAACTGACCTGTAACT	0.502000													13	55					0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39695412	39695412	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:39695412T>A	ENST00000395670.3	-	36	5223	c.4804A>T	c.(4804-4806)Agt>Tgt	p.S1602C	KIF21A_ENST00000361418.5_Missense_Mutation_p.S1601C|KIF21A_ENST00000361961.3_Missense_Mutation_p.S1588C|KIF21A_ENST00000541463.2_Missense_Mutation_p.S1548C|KIF21A_ENST00000544797.2_Missense_Mutation_p.S1564C			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1601					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCAGCCACTGAGCAAAACT	0.458000													73	146					0	0	1	0	0
CYP2D7	1564	broad.mit.edu	37	22	42536672	42536672	+	RNA	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:42536672C>G	ENST00000435101.1	-	0	331				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						CCTCATCCTTCAGCACCGATG	0.602000													8	31					0	0	1	0	0
P2RX7	5027	broad.mit.edu	37	12	121613222	121613222	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:121613222G>C	ENST00000328963.5	+	8	857	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	P2RX7_ENST00000546057.1_Missense_Mutation_p.E305Q|P2RX7_ENST00000541446.1_Missense_Mutation_p.E16Q|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Missense_Mutation_p.E215Q|P2RX7_ENST00000377162.2_Missense_Mutation_p.E216Q			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	305						integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAACAATGTTGAGAAACGGAC	0.433000													18	35					0	0	1	0	0
POLR2G	5436	broad.mit.edu	37	11	62529308	62529308	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr11:62529308C>A	ENST00000301788.7	+	2	159	c.54C>A	c.(52-54)ttC>ttA	p.F18L		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	18					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						CGCGCTACTTCGGCCCCAACT	0.607000													101	215					9.04842e-37	1.00206e-36	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85654725	85654725	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr4:85654725C>A	ENST00000322366.6	-	44	7438	c.7031G>T	c.(7030-7032)tGg>tTg	p.W2344L	WDFY3_ENST00000295888.4_Missense_Mutation_p.W2344L			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2344						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATCTGACACCACTCTTCTGT	0.562000													43	97					4.64027e-19	5.03478e-19	1	1	0
LVRN	206338	broad.mit.edu	37	5	115335561	115335561	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:115335561G>A	ENST00000357872.4	+	7	1601	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	AQPEP_ENST00000395528.2_Missense_Mutation_p.E10K	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		493					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CAAAACAAGTGAAATACAGGA	0.353000													23	47					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55549805	55549805	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:55549805G>A	ENST00000436346.1	-	18	3862	c.3021C>T	c.(3019-3021)ctC>ctT	p.L1007L	AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.L1006L|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Silent_p.L1007L|CCDC88A_ENST00000413716.2_Silent_p.L1006L	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1007					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GTCTCTGTTTGAGAGCTTCAT	0.343000													16	22					0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221054599	221054599	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:221054599C>T	ENST00000366903.6	+	2	2157	c.656C>T	c.(655-657)tCg>tTg	p.S219L	HLX_ENST00000549319.1_5'UTR	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	219					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CTGCAGCCCTCGGCCGGCCAG	0.562000													57	113					0	0	1	0	0
ALOX12	239	broad.mit.edu	37	17	6913722	6913722	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:6913722G>A	ENST00000251535.6	+	14	2025	c.1972G>A	c.(1972-1974)Gag>Aag	p.E658K	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000573939.1_Intron|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_Intron|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	658	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CAGCTGCATAGAGAACAGTGT	0.433000													23	54					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40872562	40872562	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:40872562G>A	ENST00000409587.1	+	4	470	c.73G>A	c.(73-75)Gag>Aag	p.E25K	PLD3_ENST00000409281.1_Missense_Mutation_p.E25K|PLD3_ENST00000409419.1_Missense_Mutation_p.E25K|PLD3_ENST00000409735.4_Missense_Mutation_p.E25K|PLD3_ENST00000356508.5_Missense_Mutation_p.E25K			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	25					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCCATGAATGAGATTGAGGC	0.652000													6	128					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33991959	33991959	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:33991959C>G	ENST00000389232.4	+	41	6374	c.6304C>G	c.(6304-6306)Cga>Gga	p.R2102G	RYR3_ENST00000415757.3_Missense_Mutation_p.R2102G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2102	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTATTTCTGTCGAATTAGCCG	0.433000													8	15					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42478745	42478745	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:42478745C>T	ENST00000434000.1	-	9	748	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	GPATCH8_ENST00000591680.1_Missense_Mutation_p.E234K			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	234						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTAGCTGATTCATCTTTATCA	0.443000													38	78					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17394894	17394894	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:17394894G>A	ENST00000380647.3	+	15	2526	c.2442G>A	c.(2440-2442)gtG>gtA	p.V814V	CNTLN_ENST00000425824.1_Silent_p.V814V|CNTLN_ENST00000262360.5_Silent_p.V814V			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	814						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CCATGAAAGTGAGATCTGGAC	0.418000													31	22					0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214625281	214625281	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:214625281G>A	ENST00000366956.5	-	3	405	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	PTPN14_ENST00000543945.1_Nonsense_Mutation_p.Q71*	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	71	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CGTGCTTGCTGGCTCTTGCTG	0.463000													20	32					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	176132984	176132984	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:176132984C>T	ENST00000367669.3	-	4	1123	c.609G>A	c.(607-609)aaG>aaA	p.K203K	RFWD2_ENST00000308769.8_Silent_p.K203K	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	203					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATTTGAACCTCTTTTCCTCAA	0.269000													5	23					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983384	2983384	+	Silent	SNP	G	G	A	rs11548398		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:2983384G>A	ENST00000342628.2	-	2	374	c.261C>T	c.(259-261)atC>atT	p.I87I	FOXM1_ENST00000361953.3_Silent_p.I87I|FOXM1_ENST00000359843.3_Silent_p.I87I	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	87					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GTGCTGTGATGATGCTGTGAA	0.517000													40	80					0	0	1	0	0
ZNF23	7571	broad.mit.edu	37	16	71482838	71482838	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:71482838A>G	ENST00000393539.2	-	6	1903	c.1090T>C	c.(1090-1092)Tat>Cat	p.Y364H	ZNF23_ENST00000357254.4_Missense_Mutation_p.Y364H|RP11-510M2.10_ENST00000576258.1_RNA|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.Y306H|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.Y364H|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.Y306H	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTACACTGATAGGGCTTTTCT	0.428000													23	26					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324832	31324832	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr18:31324832G>T	ENST00000269197.5	+	12	5020	c.5020G>T	c.(5020-5022)Gaa>Taa	p.E1674*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478000													34	58					2.08457e-15	2.21692e-15	1	1	0
KCND3	3752	broad.mit.edu	37	1	112318791	112318791	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:112318791C>T	ENST00000369697.1	-	6	1888	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	KCND3_ENST00000315987.2_Missense_Mutation_p.E626K|KCND3_ENST00000302127.4_Missense_Mutation_p.E607K			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	626						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTTTCCCCCTCTGGGGTTAGC	0.557000													49	66					0	0	1	0	0
ZBTB12	221527	broad.mit.edu	37	6	31868084	31868084	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:31868084G>C	ENST00000375527.2	-	2	1174	c.999C>G	c.(997-999)atC>atG	p.I333M	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TGGTGCACTTGATGTTCTTTA	0.667000													15	50					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74627346	74627346	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:74627346G>A	ENST00000321288.5	+	21	2767	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	CCDC33_ENST00000398814.3_Missense_Mutation_p.E686K|CCDC33_ENST00000268082.4_Missense_Mutation_p.E313K|CCDC33_ENST00000558821.1_Missense_Mutation_p.E279K			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	889							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTGGGGACGAGAGAAGCAGGA	0.577000													37	79					0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70488379	70488379	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:70488379C>T	ENST00000260128.4	+	6	1064	c.347C>T	c.(346-348)tCg>tTg	p.S116L	SULF1_ENST00000419716.3_Missense_Mutation_p.S116L|SULF1_ENST00000402687.4_Missense_Mutation_p.S116L|SULF1_ENST00000458141.2_Missense_Mutation_p.S116L	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	116					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TCTTCCCCCTCGTGGCAGGCC	0.517000													25	66					0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6605202	6605202	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:6605202C>G	ENST00000377705.5	-	4	815	c.783G>C	c.(781-783)ttG>ttC	p.L261F		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	261					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CAACAGACCTCAAGGCTAAAT	0.373000													27	89					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139905086	139905086	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr9:139905086C>T	ENST00000265662.5	-	40	6307	c.6160G>A	c.(6160-6162)Gag>Aag	p.E2054K	ABCA2_ENST00000371605.3_Missense_Mutation_p.E2053K|ABCA2_ENST00000341511.6_Missense_Mutation_p.E2054K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2053	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTCAGGTTCTCAATCTTGACC	0.652000													64	135					0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55224675	55224675	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:55224675C>G	ENST00000371279.3	-	2	242	c.160G>C	c.(160-162)Gac>Cac	p.D54H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	54					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGCACCCGGTCTTCCCGAAGG	0.607000													10	23					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113742891	113742891	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:113742891G>A	ENST00000397030.1	+	25	2919	c.2882G>A	c.(2881-2883)cGg>cAg	p.R961Q	MCF2L_ENST00000423482.2_Missense_Mutation_p.R926Q|MCF2L_ENST00000535094.2_Missense_Mutation_p.R928Q|MCF2L_ENST00000375597.4_Missense_Mutation_p.R926Q|MCF2L_ENST00000375604.2_Missense_Mutation_p.R985Q|MCF2L_ENST00000434480.2_Missense_Mutation_p.R934Q|MCF2L_ENST00000375601.3_Missense_Mutation_p.R932Q|MCF2L_ENST00000375608.3_Missense_Mutation_p.R958Q|MCF2L_ENST00000442652.2_Missense_Mutation_p.R958Q|MCF2L_ENST00000421756.1_Missense_Mutation_p.R932Q			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	958					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCCAGCACCGGGCGCTGGAG	0.657000													9	33					0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42522959	42522959	+	Silent	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr22:42522959C>G	ENST00000360608.5	-	8	1323	c.1209G>C	c.(1207-1209)ctG>ctC	p.L403L	NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Silent_p.L352L|CYP2D6_ENST00000389970.3_Silent_p.L403L|NDUFA6-AS1_ENST00000416037.1_RNA	NM_000106.5	NP_000097.3	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	403							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.L352L(1)|p.L403L(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTCATCCTTCAGCACCGATG	0.602000													3	20					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38645343	38645343	+	RNA	SNP	C	C	T	rs75687299	by1000genomes	TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:38645343C>T	ENST00000494540.1	+	0	36					NR_003086.1																						AAAGCAGCGGCGGCGTTTGCT	0.597000													6	17					0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48718202	48718202	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr2:48718202C>G	ENST00000294952.8	+	15	1649	c.1492C>G	c.(1492-1494)Ctg>Gtg	p.L498V	PPP1R21_ENST00000449090.2_Missense_Mutation_p.L498V|PPP1R21_ENST00000281394.4_Missense_Mutation_p.L498V	NM_001135629.2	NP_001129101.1	Q6ZMI0	KLRAQ_HUMAN	protein phosphatase 1, regulatory subunit 21	498										endometrium(2)|kidney(4)|lung(9)	15						CATTGCTTCACTGAGCTATGG	0.363000													19	68					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48180286	48180286	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:48180286C>T	ENST00000311303.3	-	1	395	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	ABCC12_ENST00000416054.1_Missense_Mutation_p.R17Q|ABCC12_ENST00000448542.1_Missense_Mutation_p.R17Q	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	17						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GGATCTCCGCCGGCCTCGCTG	0.577000													23	45					0	0	1	0	0
AIM2	9447	broad.mit.edu	37	1	159035750	159035750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:159035750G>A	ENST00000368130.4	-	4	1054	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	256	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					GGCTGAGTTTGAAGCGTGTTG	0.393000													23	48					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30436231	30436231	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:30436231G>A	ENST00000278979.3	-	10	940	c.864C>T	c.(862-864)gcC>gcT	p.A288A				Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	288						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAGAGGAAGCGGCTCGCTTAG	0.622000													11	31					0	0	1	0	0
RNGTT	8732	broad.mit.edu	37	6	89388087	89388087	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:89388087G>A	ENST00000369485.4	-	14	1677	c.1491C>T	c.(1489-1491)ccC>ccT	p.P497P	RNGTT_ENST00000369475.3_Silent_p.P497P|RNGTT_ENST00000538899.1_Silent_p.P414P|RNGTT_ENST00000265607.6_Silent_p.P474P	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	497	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TTTGTGCAAAGGGTCTTTCAT	0.318000													14	26					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16907941	16907941	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:16907941C>G	ENST00000430580.2	-	15	2240	c.1353G>C	c.(1351-1353)gaG>gaC	p.E451D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	451	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCAGTACTTTCTCAGCCTCCT	0.438000													49	672					0	0	1	0	0
EIF3G	8666	broad.mit.edu	37	19	10227598	10227598	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:10227598C>T	ENST00000253108.4	-	7	515	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	158						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CTTGCAGATGCGGCAGGACAC	0.647000													51	76					0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95157168	95157168	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:95157168G>A	ENST00000325885.5	+	3	602	c.531G>A	c.(529-531)acG>acA	p.T177T	ASB4_ENST00000428113.1_Silent_p.T177T	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	177					intracellular signal transduction			p.T177T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ATGAGGAGACGCCCTTGCACA	0.498000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	23					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15284885	15284885	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:15284885A>G	ENST00000263388.2	-	25	4805	c.4730T>C	c.(4729-4731)gTg>gCg	p.V1577A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1577					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCACCCGATCACCTCGGGGGC	0.627000													10	44					0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150678169	150678169	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr5:150678169C>G	ENST00000335230.3	-	2	615	c.204G>C	c.(202-204)aaG>aaC	p.K68N	SLC36A3_ENST00000377713.3_Missense_Mutation_p.K68N	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	68						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCGGCATTCTTTATGGCCA	0.512000													15	35					0	0	1	0	0
DYNLL2	140735	broad.mit.edu	37	17	56166589	56166589	+	Silent	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr17:56166589C>T	ENST00000240343.6	+	3	497	c.219C>T	c.(217-219)ttC>ttT	p.F73F		NM_080677.2	NP_542408.1	Q96FJ2	DYL2_HUMAN	dynein, light chain, LC8-type 2	73					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport	centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane	motor activity			lung(3)	3						CAAAGCACTTCATCTATTTTT	0.478000													22	66					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17113966	17113966	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:17113966C>T	ENST00000377833.4	-	18	2371	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	769	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTCACCATCTCGAACCTAAAG	0.358000													5	17					0	0	1	0	0
EPB41	2035	broad.mit.edu	37	1	29313977	29313977	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:29313977G>A	ENST00000343067.4	+	2	155	c.28G>A	c.(28-30)Gag>Aag	p.E10K	EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000373797.1_Missense_Mutation_p.E10K|EPB41_ENST00000356093.2_Missense_Mutation_p.E10K|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.E10K|EPB41_ENST00000347529.3_Missense_Mutation_p.E10K|EPB41_ENST00000373798.1_Missense_Mutation_p.E10K	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	10					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		TTTAGTGACTGAGGCCGAAAA	0.438000													27	72					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18864339	18864339	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:18864339G>A	ENST00000338797.6	+	7	641	c.616G>A	c.(616-618)Gag>Aag	p.E206K	CRTC1_ENST00000601916.1_Missense_Mutation_p.E115K|CRTC1_ENST00000594658.1_Missense_Mutation_p.E149K|CRTC1_ENST00000321949.8_Missense_Mutation_p.E190K	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	190					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGGAATGGAAGAGACCACATC	0.463000													111	196					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74919617	74919617	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr16:74919617G>C	ENST00000262144.6	-	25	2753	c.2623C>G	c.(2623-2625)Ctg>Gtg	p.L875V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	875										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTCTCTCTCAGACCCCAACGG	0.463000													24	40					0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148769033	148769033	+	Silent	SNP	G	G	A			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:148769033G>A	ENST00000316286.9	-	3	845	c.573C>T	c.(571-573)ttC>ttT	p.F191F	ZNF786_ENST00000491431.1_Silent_p.F277F|ZNF786_ENST00000451334.3_Silent_p.F240F			Q8N393	ZN786_HUMAN	zinc finger protein 786	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTCGTGTCGGAAGCACATTT	0.677000													19	30					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39763324	39763324	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr1:39763324C>G	ENST00000564288.1	+	21	3165	c.2388C>G	c.(2386-2388)ttC>ttG	p.F796L	MACF1_ENST00000567887.1_Missense_Mutation_p.F833L|MACF1_ENST00000539005.1_Missense_Mutation_p.F801L|MACF1_ENST00000361689.2_Missense_Mutation_p.F801L|MACF1_ENST00000545844.1_Missense_Mutation_p.F801L|MACF1_ENST00000317713.7_Missense_Mutation_p.F801L|MACF1_ENST00000372915.3_Missense_Mutation_p.F801L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	801					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAGTCATTCTTGAGGAACC	0.443000													33	75					0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62416025	62416025	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr8:62416025C>G	ENST00000541428.1	-	25	2243	c.2083G>C	c.(2083-2085)Gag>Cag	p.E695Q	ASPH_ENST00000379454.4_Missense_Mutation_p.E724Q	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	724					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	ACCTCGTGCTCAAAGGAGTCA	0.512000													14	40					0	0	1	0	0
BMI1	648	broad.mit.edu	37	10	22618352	22618352	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr10:22618352C>T	ENST00000376663.3	+	10	1367	c.862C>T	c.(862-864)Cac>Tac	p.H288Y	COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.H431Y	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ACAGTTTCCTCACATTTCCAG	0.498000													8	97					0	0	1	0	0
LINC00882	100302640	broad.mit.edu	37	3	106824710	106824712	+	RNA	DEL	TTT	TTT	-	rs139188639		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr3:106824710_106824712delTTT	ENST00000484698.1	-	0	295																											tttttatatcttttttttttttt	0.453													2	4	---	---	---	---					
E2F3	1871	broad.mit.edu	37	6	20490622	20490623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr6:20490622_20490623insC	ENST00000346618.3	+	7	1425_1426	c.1359_1360insC	c.(1357-1362)ttaaaafs	p.L453fs	E2F3_ENST00000535432.1_Frame_Shift_Ins_p.L322fs	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	453	Transactivation (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CTTACGATTTGGAAAAGCTCCC	0.465													45	121	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													3	4	---	---	---	---					
ANKS1B	56899	broad.mit.edu	37	12	100200372	100200372	+	Frame_Shift_Del	DEL	T	T	-			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr12:100200372delT	ENST00000547776.2	-	4	478	c.479delA	c.(478-480)agfs	p.K160fs	ANKS1B_ENST00000329257.7_Frame_Shift_Del_p.K160fs|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	160						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGTTTCCAGCTTGCTATTTCT	0.463													23	40	---	---	---	---					
MLNR	2862	broad.mit.edu	37	13	49794682	49794682	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr13:49794682delG	ENST00000398307.1	+	1	209	c.209delG	c.(208-210)cgfs	p.R70fs	MLNR_ENST00000218721.1_Frame_Shift_Del_p.R70fs			O43193	MTLR_HUMAN	motilin receptor	70					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGGGACATGCGGACCACCACC	0.677													12	18	---	---	---	---					
RP11-597A11.1	0	broad.mit.edu	37	14	20138372	20138372	+	RNA	DEL	G	G	-			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:20138372delG	ENST00000548261.1	+	0	391																											TGAAACAaaagaaagaaagaa	0.398													3	4	---	---	---	---					
HSP90AA1	3320	broad.mit.edu	37	14	102550210	102550211	+	Frame_Shift_Ins	INS	-	-	TTTT	rs143611681		TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr14:102550210_102550211insTTTT	ENST00000334701.7	-	8	1904_1905	c.1623_1624insAAAA	c.(1621-1626)aagcttfs	p.L542fs	HSP90AA1_ENST00000441629.2_Frame_Shift_Ins_p.L241fs|HSP90AA1_ENST00000216281.8_Frame_Shift_Ins_p.L420fs	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	420					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	AGTTCTAAGCATTTTTTGACCA	0.371													7	38	---	---	---	---					
HERC2P3	283755	broad.mit.edu	37	15	20644130	20644130	+	RNA	DEL	C	C	-			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr15:20644130delC	ENST00000428453.1	-	0	3384																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTGCCCAATCCCTACAGGTT	0.542													6	13	---	---	---	---					
TMEM259	91304	broad.mit.edu	37	19	1010403	1010403	+	Frame_Shift_Del	DEL	C	C	-			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr19:1010403delC	ENST00000356663.3	-	11	1930	c.1809delG	c.(1807-1809)ggfs	p.G603fs	TMEM259_ENST00000333175.5_3'UTR	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		CCGGGCTAGGCCCGCCTACCG	0.736													2	4	---	---	---	---					
LAMA5	3911	broad.mit.edu	37	20	60884502	60884503	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-D6-A6ES-01A-12D-A31L-08	TCGA-D6-A6ES-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ba0c28b-101b-4bac-8e09-1867bba10bdd	511b6f5b-0bf1-44ce-b670-a39155729ebb	g.chr20:60884502_60884503insGG	ENST00000252999.3	-	80	11043_11044	c.10977_10978insCC	c.(10975-10980)cccctafs	p.L3660fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3660	Laminin G-like 5.				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)	CCGCAGTAGGCGGGGGGCCAGG	0.688													8	17	---	---	---	---