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
UBXN10	127733	broad.mit.edu	37	1	20517520	20517520	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:20517520A>G	ENST00000375099.3	+	2	550	c.466A>G	c.(466-468)Atg>Gtg	p.M156V		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	156										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GACGGGCACCATGAAGACAAG	0.527													17	21	---	---	---	---
VANGL2	57216	broad.mit.edu	37	1	160394001	160394001	+	Silent	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:160394001G>A	ENST00000368061.2	+	7	1707	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	411					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACCAAGCAGCAGCCCTACC	0.592													20	39	---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205027445	205027445	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:205027445G>T	ENST00000331830.4	+	4	636	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	118	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAACCCAGTGGGCACCGTTGT	0.642													3	39	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216462740	216462740	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:216462740T>A	ENST00000366943.2	-	11	2239	c.1853A>T	c.(1852-1854)gAg>gTg	p.E618V	USH2A_ENST00000307340.3_Missense_Mutation_p.E618V|USH2A_ENST00000366942.3_Missense_Mutation_p.E618V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	618	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGCACAGCTCACAGTTCCT	0.403										HNSCC(13;0.011)			6	45	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179399093	179399093	+	Silent	SNP	T	T	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:179399093T>C	ENST00000589042.1	-	358	102473	c.102249A>G	c.(102247-102249)aaA>aaG	p.K34083K	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.K25143K|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342175.6_Silent_p.K25210K|TTN_ENST00000591111.1_Silent_p.K32442K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32442	Ig-like 151.						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)			TTCTGATAACTTTAGTACTGA	0.473													21	18	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227662463	227662463	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:227662463T>A	ENST00000305123.5	-	1	2012	c.992A>T	c.(991-993)gAc>gTc	p.D331V		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCTTCGCCGTCACTGGAGGC	0.716											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	162	---	---	---	---
VHL	7428	broad.mit.edu	37	3	10191575	10191575	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:10191575G>T	ENST00000256474.2	+	3	1408	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	VHL_ENST00000345392.2_Missense_Mutation_p.D149Y|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	190					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.E189fs*12(2)|p.D190fs*12(1)|p.D187_N193del(1)|p.D190fs*>25(1)|p.Y185fs*11(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGATCTGGAAGACCACCCAAA	0.502		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				7	17	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13393391	13393391	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:13393391C>T	ENST00000254508.5	-	20	2905	c.2823G>A	c.(2821-2823)agG>agA	p.R941R		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	941					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGCGACACCCCTGGCCTCCT	0.532													4	56	---	---	---	---
TRAIP	10293	broad.mit.edu	37	3	49881269	49881269	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:49881269A>T	ENST00000331456.2	-	5	486	c.373T>A	c.(373-375)Ttg>Atg	p.L125M	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	125					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTTGCCCAAGGCCTGCTGC	0.537													30	64	---	---	---	---
IFT122	55764	broad.mit.edu	37	3	129168739	129168739	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:129168739G>T	ENST00000296266.3	+	2	259	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	IFT122_ENST00000440957.2_5'UTR|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000348417.2_Missense_Mutation_p.D23Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D23Y|IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	23					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATTTAAGCCTGATGGAACTCA	0.408													5	75	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130284217	130284217	+	Silent	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:130284217C>T	ENST00000358511.6	+	3	1072	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	COL6A6_ENST00000453409.2_Silent_p.N347N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	347	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAAGACAACGTGACAAAAG	0.557													14	165	---	---	---	---
MSL2	55167	broad.mit.edu	37	3	135913890	135913890	+	Silent	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:135913890G>T	ENST00000309993.2	-	1	798	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	22					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGGGTCTCCGGGGTCGTAGT	0.527													70	131	---	---	---	---
LEKR1	389170	broad.mit.edu	37	3	156746095	156746095	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:156746095C>G	ENST00000470811.1	+	13	1995	c.660C>G	c.(658-660)aaC>aaG	p.N220K	LEKR1_ENST00000356539.4_Missense_Mutation_p.N524K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	105										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTCAGAAAACTTGAGGAAGG	0.358													11	13	---	---	---	---
LRRC15	131578	broad.mit.edu	37	3	194081183	194081183	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:194081183C>T	ENST00000347624.3	-	2	675	c.590G>A	c.(589-591)gGc>gAc	p.G197D	LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D|LRRC15_ENST00000439944.2_Missense_Mutation_p.G203D	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	197						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTGGAGGTTGCCCAGGTGCTG	0.572													68	112	---	---	---	---
ATP10D	57205	broad.mit.edu	37	4	47527619	47527619	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr4:47527619G>T	ENST00000273859.3	+	5	1005	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E246*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	246					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATAGAATGTGAAAGCCCAAA	0.363													5	23	---	---	---	---
NNT	23530	broad.mit.edu	37	5	43645506	43645506	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:43645506A>C	ENST00000264663.5	+	10	1559	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H	NNT_ENST00000512996.2_Missense_Mutation_p.Q315H|NNT_ENST00000344920.4_Missense_Mutation_p.Q446H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	446					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATATTCCTCAAGGTGCCCCAG	0.403													4	51	---	---	---	---
CKMT2	1160	broad.mit.edu	37	5	80554973	80554973	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:80554973T>C	ENST00000424301.2	+	9	1152	c.914T>C	c.(913-915)tTc>tCc	p.F305S	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S|CKMT2_ENST00000254035.4_Missense_Mutation_p.F305S|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000501927.2_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	305	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GGCTGGGAGTTCATGTGGAAT	0.473													48	59	---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16146916	16146916	+	Silent	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:16146916T>A	ENST00000349606.4	+	6	1233	c.729T>A	c.(727-729)cgT>cgA	p.R243R	MYLIP_ENST00000356840.3_Silent_p.R424R			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	424	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCAGGTCGCGTGTGGAGCATG	0.532													3	8	---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46977705	46977705	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:46977705T>A	ENST00000371253.2	-	11	1681	c.1466A>T	c.(1465-1467)aAc>aTc	p.N489I	GPR110_ENST00000283297.5_Missense_Mutation_p.N292I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	489					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGGTAGAATGTTCCCCAGAGT	0.413													12	17	---	---	---	---
SESN1	27244	broad.mit.edu	37	6	109322526	109322526	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:109322526A>C	ENST00000436639.2	-	3	1256	c.511T>G	c.(511-513)Tta>Gta	p.L171V	SESN1_ENST00000302071.2_Missense_Mutation_p.L46V|SESN1_ENST00000356644.7_Missense_Mutation_p.L112V	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	112					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGTAGGGGTAACGGCCCATCC	0.348													9	22	---	---	---	---
KPNA5	3841	broad.mit.edu	37	6	117045527	117045527	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:117045527A>G	ENST00000368564.1	+	10	1136	c.988A>G	c.(988-990)Att>Gtt	p.I330V	KPNA5_ENST00000356348.1_Missense_Mutation_p.I330V			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	327	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGGTGATGATATTCAAACACA	0.279													12	8	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131184804	131184804	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:131184804C>T	ENST00000337057.3	-	18	3065	c.2884G>A	c.(2884-2886)Gga>Aga	p.G962R	EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G663R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	962	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTCCATCTCCTGTGATCACA	0.363													7	23	---	---	---	---
CHRNA6	8973	broad.mit.edu	37	8	42611140	42611140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:42611140G>T	ENST00000276410.2	-	5	1557	c.1202C>A	c.(1201-1203)tCa>tAa	p.S401*	CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.S386*	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	401						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAGCTCATTTGATTTGTGACA	0.488													21	26	---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48691160	48691160	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:48691160C>T	ENST00000314191.2	-	84	11766	c.11710G>A	c.(11710-11712)Gcc>Acc	p.A3904T	PRKDC_ENST00000338368.3_Missense_Mutation_p.A3873T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3905	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAGAGCTGGCGAAGTGGGAG	0.572								Non-homologous end-joining					7	11	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77617577	77617577	+	Silent	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:77617577C>A	ENST00000521891.2	+	2	1702	c.1254C>A	c.(1252-1254)acC>acA	p.T418T	ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000518282.1_Silent_p.T418T|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Silent_p.T418T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	418						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)			TAGTGAACACCCCAATTACCT	0.522										HNSCC(33;0.089)			9	20	---	---	---	---
OR1K1	392392	broad.mit.edu	37	9	125562551	125562551	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr9:125562551C>G	ENST00000277309.2	+	1	182	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	50					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						TGGCTGCCATCCAGGCCAGTC	0.572													7	44	---	---	---	---
MMP26	56547	broad.mit.edu	37	11	5009509	5009509	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5009509C>A	ENST00000380390.1	+	2	284	c.68C>A	c.(67-69)gCt>gAt	p.A23D	MMP26_ENST00000300762.1_Missense_Mutation_p.A23D|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	23					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGCCCCCTGCTGCAGACCAT	0.488													34	45	---	---	---	---
OR52A5	390054	broad.mit.edu	37	11	5153061	5153061	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5153061A>G	ENST00000307388.1	-	1	811	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATGGTGGTATGTGTGAACC	0.408													10	36	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974168	49974168	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:49974168C>T	ENST00000555099.1	+	1	226	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCTATCTCTCCTTTATTGAT	0.428													15	126	---	---	---	---
SSH3	54961	broad.mit.edu	37	11	67074410	67074410	+	Silent	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:67074410G>T	ENST00000308127.4	+	4	619	c.441G>T	c.(439-441)ctG>ctT	p.L147L	SSH3_ENST00000376757.5_Silent_p.L147L|SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Silent_p.L147L	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	147					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGGTCCTCCTGGGCGTGGATT	0.632													20	67	---	---	---	---
LRIG3	121227	broad.mit.edu	37	12	59281622	59281622	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:59281622A>C	ENST00000320743.3	-	8	1326	c.1040T>G	c.(1039-1041)gTc>gGc	p.V347G	LRIG3_ENST00000379141.4_Missense_Mutation_p.V287G	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	347						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AATGTAGCTGACTCTGTTGTT	0.413			T	ROS1	NSCLC								18	32	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39451252	39451252	+	Splice_Site	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451252A>G	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGGTTTTAGGTCAGTGAT	0.433													6	71	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39451253	39451253	+	Splice_Site	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451253G>T	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGGTTTTAGGTCAGTGATC	0.438													6	71	---	---	---	---
PCNXL4	64430	broad.mit.edu	37	14	60574526	60574526	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr14:60574526T>G	ENST00000406854.1	+	2	724	c.170T>G	c.(169-171)gTc>gGc	p.V57G	PCNXL4_ENST00000391611.2_Missense_Mutation_p.V57G|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.V57G|PCNXL4_ENST00000317623.4_Intron					pecanex-like 4 (Drosophila)																		TGGGGTGGAGTCGGAACACTT	0.398													4	46	---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072622	31072622	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:31072622G>T	ENST00000538906.1	-	3	2411	c.1627C>A	c.(1627-1629)Ccc>Acc	p.P543T	ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T|ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGGGGAAGGGCCGGAGCTCC	0.657													44	39	---	---	---	---
CCDC94	55702	broad.mit.edu	37	19	4267640	4267640	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267640A>G	ENST00000262962.7	+	7	796	c.728A>G	c.(727-729)aAg>aGg	p.K243R		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCAAGAGGAAGGTGGAGGTC	0.682											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36	---	---	---	---
CCDC94	55702	broad.mit.edu	37	19	4267641	4267641	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267641G>T	ENST00000262962.7	+	7	797	c.729G>T	c.(727-729)aaG>aaT	p.K243N		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCAAGAGGAAGGTGGAGGTCT	0.682											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602517	10602517	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:10602517C>A	ENST00000171111.5	-	3	1608	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	KEAP1_ENST00000393623.2_Missense_Mutation_p.R354L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GTCCGCCAACCGGAGCCAGGT	0.706													3	9	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61525242	61525242	+	Silent	SNP	G	G	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr20:61525242G>A	ENST00000266070.4	-	12	3202	c.2877C>T	c.(2875-2877)acC>acT	p.T959T	DIDO1_ENST00000395343.1_Silent_p.T959T|DIDO1_ENST00000395340.1_Silent_p.T959T|DIDO1_ENST00000395335.2_Silent_p.T959T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	959					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTGACGGTGGTGACCACCC	0.682													21	31	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30737773	30737773	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr22:30737773C>A	ENST00000215793.8	-	7	1133	c.979G>T	c.(979-981)Gtc>Ttc	p.V327F	SF3A1_ENST00000439242.1_Missense_Mutation_p.V262F	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCAGACTCGACCTCCATCTCA	0.562													5	84	---	---	---	---
SPANXN1	494118	broad.mit.edu	37	X	144337212	144337212	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chrX:144337212G>T	ENST00000370493.3	+	2	856	c.97G>T	c.(97-99)Gac>Tac	p.D33Y		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	33										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAAACAGGGACTTAGCCCC	0.413													5	26	---	---	---	---
NUDT12	83594	broad.mit.edu	37	5	102888022	102888022	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:102888022delT	ENST00000230792.2	-	6	1270	c.1174delA	c.(1174-1176)atgfs	p.M392fs	NUDT12_ENST00000507423.1_Frame_Shift_Del_p.M374fs	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	392	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GAGGAAGGCATTGGCCATGGT	0.423													12	22	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37619348	37619349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:37619348_37619349insT	ENST00000447079.4	+	1	1057_1058	c.1024_1025insT	c.(1024-1026)ctgfs	p.L342fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.L342fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	342					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAGCGGTCTCTGAGTCGGAGT	0.554			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			14	60	---	---	---	---
