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
VIPAS39	63894	broad.mit.edu	37	14	77908979	77908979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr14:77908979G>A	ENST00000553888.1	-	10	1168	c.658C>T	c.(658-660)Cga>Tga	p.R220*	VIPAS39_ENST00000448935.2_Nonsense_Mutation_p.R171*|VIPAS39_ENST00000343765.2_Nonsense_Mutation_p.R220*|VIPAS39_ENST00000557658.1_Nonsense_Mutation_p.R220*|VIPAS39_ENST00000327028.4_Nonsense_Mutation_p.R207*|VIPAS39_ENST00000556412.1_Nonsense_Mutation_p.R246*	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		GCAACCTGTCGCACCTCCAGC	0.433000													65	77					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7480916	7480916	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:7480916G>C	ENST00000293831.8	+	8	814	c.798G>C	c.(796-798)ttG>ttC	p.L266F	EIF4A1_ENST00000577269.1_Missense_Mutation_p.L266F|EIF4A1_ENST00000582746.1_Missense_Mutation_p.L266F|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	266	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TATGTGACTTGTATGAAACCC	0.532000													59	11					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36226432	36226432	+	Missense_Mutation	SNP	C	C	T	rs114727604	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:36226432C>T	ENST00000251195.5	-	8	1186	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	CLSPN_ENST00000520551.1_Missense_Mutation_p.G364S|CLSPN_ENST00000373220.3_Missense_Mutation_p.G364S|CLSPN_ENST00000318121.3_Missense_Mutation_p.G364S			Q9HAW4	CLSPN_HUMAN	claspin	364					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGCTCAGAACCTTTACTATGG	0.388000													35	45					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231375862	231375862	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr2:231375862A>G	ENST00000264052.5	+	24	2430	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	SP100_ENST00000340126.4_Missense_Mutation_p.N692S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	692					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCACAACAATACCTTAGTT	0.383000													17	41					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225684223	225684223	+	Silent	SNP	T	T	G			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr2:225684223T>G	ENST00000409592.3	-	29	3302	c.3189A>C	c.(3187-3189)cgA>cgC	p.R1063R	DOCK10_ENST00000258390.7_Silent_p.R1069R			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1069							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACACATACCCTCGGTCCATAA	0.318000													6	83					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22322019	22322019	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:22322019C>A	ENST00000398793.2	-	8	1242	c.808G>T	c.(808-810)Gca>Tca	p.A270S	TOP3B_ENST00000357179.5_Missense_Mutation_p.A270S|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	270					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AACATCTGTGCGATCTCCCGG	0.507000													32	46					1.61788e-16	1.70014e-16	1	1	0
RASAL3	64926	broad.mit.edu	37	19	15574887	15574887	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:15574887T>C	ENST00000343625.6	-	2	363	c.283A>G	c.(283-285)Aac>Gac	p.N95D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	95					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGCGGTGGGTTCTTATGCCTC	0.672000													7	19					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111503618	111503618	+	Silent	SNP	A	A	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:111503618A>T	ENST00000428084.1	-	23	2555	c.2283T>A	c.(2281-2283)gcT>gcA	p.A761A	DOCK4_ENST00000437633.1_Silent_p.A761A|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	761					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAGAAACACAGCCTTAAAAA	0.468000													6	12					0	0	1	0	0
PTX3	5806	broad.mit.edu	37	3	157154782	157154782	+	Silent	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr3:157154782G>A	ENST00000295927.3	+	1	205	c.60G>A	c.(58-60)tcG>tcA	p.S20S	VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	20					inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCGAGAACTCGGATGATTATG	0.468000													64	60					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40996148	40996148	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:40996148G>A	ENST00000352632.3	+	4	574	c.488G>A	c.(487-489)cGc>cAc	p.R163H	SPTBN4_ENST00000344104.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R163H|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R163H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	163	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCATCCTGCGCTTCCAGGTG	0.577000													18	20					0	0	1	0	0
CCDC84	338657	broad.mit.edu	37	11	118868962	118868962	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:118868962G>C	ENST00000334418.1	+	1	111	c.55G>C	c.(55-57)Ggg>Cgg	p.G19R		NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	19										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTGTGGTCGCGGGCACGTTTA	0.672000													4	4					0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105393494	105393494	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr8:105393494C>T	ENST00000351513.2	-	9	1624	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	498					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCAGTGTGGCGACTTCTCCC	0.488000													40	83					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834175	125834175	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr12:125834175G>A	ENST00000299308.3	+	2	238	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	77						integral to membrane		p.R77Q(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCATCTACCGAGCCAGGACA	0.507000													23	136					0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154020488	154020488	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chrX:154020488C>T	ENST00000413259.3	-	3	477	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	MPP1_ENST00000462825.1_Intron|MPP1_ENST00000369534.3_Missense_Mutation_p.A59T|MPP1_ENST00000393531.1_Missense_Mutation_p.A59T	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	59					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGACCTGGGCAGGGCTACCT	0.542000													7	52					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17999206	17999206	+	Silent	SNP	C	C	T	rs121909177		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:17999206C>T	ENST00000222248.3	+	13	1940	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	531					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCTCTATTACGGTGCCCTGG	0.572000													53	78					0	0	1	0	0
DLX4	0	broad.mit.edu	37	17	48050406	48050406	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:48050406G>A	ENST00000411890.2	+	1	277	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	DLX4_ENST00000503410.1_Intron|DLX4_ENST00000240306.3_Intron	NM_001934.3	NP_001925.2	Q92988	DLX4_HUMAN	distal-less homeobox 4	80				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CTCCCTCCTCGCCCCCTACAC	0.632000													39	34					0	0	1	0	0
BTBD2	55643	broad.mit.edu	37	19	1986928	1986928	+	Silent	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:1986928G>A	ENST00000255608.4	-	8	1333	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	439						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGCTGAAGCCCGTGTCGT	0.637000													45	10					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058119	9058119	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:9058119G>C	ENST00000397910.4	-	3	29530	c.29327C>G	c.(29326-29328)tCa>tGa	p.S9776*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9778	Ser-rich.|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						TTTAGGCTCTGAGCTTGTATC	0.468000													10	32					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683805	100683805	+	Silent	SNP	A	A	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:100683805A>T	ENST00000306151.4	+	3	9172	c.9108A>T	c.(9106-9108)atA>atT	p.I3036I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3036	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTACCGGCATACCAATCTCAA	0.507000													242	223					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152728304	152728304	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr6:152728304C>T	ENST00000367255.5	-	45	7169	c.6568G>A	c.(6568-6570)Gat>Aat	p.D2190N	SYNE1_ENST00000448038.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000265368.4_Missense_Mutation_p.D2190N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D2227N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2190					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCAGCCTATCCATGTTTTCT	0.443000										HNSCC(10;0.0054)			25	16					0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63810670	63810670	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr10:63810670C>T	ENST00000279873.7	+	5	1167	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	ARID5B_ENST00000309334.5_Missense_Mutation_p.R10C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	253					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGCAGACCACGCAAAAAGAA	0.398000													22	44					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16882353	16882353	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr10:16882353G>C	ENST00000377833.4	-	62	10073	c.10008C>G	c.(10006-10008)taC>taG	p.Y3336*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3336	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)	GAAGCTGTAAGTAATTCTGCG	0.443000													4	71					0	0	1	0	0
CSRP3	8048	broad.mit.edu	37	11	19213897	19213897	+	Silent	SNP	C	C	T	rs147549410		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:19213897C>T	ENST00000533783.1	-	3	339	c.99G>A	c.(97-99)acG>acA	p.T33T	CSRP3_ENST00000265968.3_Silent_p.T33T	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	33	LIM zinc-binding 1.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						AGTGGAAACACGTCTTGTGGA	0.517000													3	47					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23912525	23912525	+	Silent	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr13:23912525C>T	ENST00000382298.3	-	10	6078	c.5490G>A	c.(5488-5490)ctG>ctA	p.L1830L	SACS_ENST00000402364.1_Silent_p.L1080L|SACS_ENST00000382292.3_Silent_p.L1830L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1830					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)		GGGAAAACTTCAGAGCCTCTC	0.488000													60	76					0	0	1	0	0
PMP22	5376	broad.mit.edu	37	17	15134175	15134175	+	Missense_Mutation	SNP	T	T	G	rs13422	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:15134175T>G	ENST00000494511.1	-	3	529	c.363A>C	c.(361-363)aaA>aaC	p.K121N	PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000395938.2_3'UTR|PMP22_ENST00000312280.3_3'UTR			Q01453	PMP22_HUMAN	peripheral myelin protein 22	0					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		CTGCTTTCTGTTTTCCCTTCC	0.498000													3	34					0	0	1	0	0
RGL2	5863	broad.mit.edu	37	6	33263944	33263944	+	Missense_Mutation	SNP	T	T	C	rs115737063	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr6:33263944T>C	ENST00000497454.1	-	6	1124	c.629A>G	c.(628-630)aAt>aGt	p.N210S	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Missense_Mutation_p.N128S	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	210	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGACCGGAGATTGCGGATGAG	0.662000													8	223					0	0	1	0	0
SHC1	6464	broad.mit.edu	37	1	154938797	154938797	+	Silent	SNP	A	A	G	rs77859168	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:154938797A>G	ENST00000448116.2	-	8	1400	c.1180T>C	c.(1180-1182)Ttg>Ctg	p.L394L	SHC1_ENST00000368449.4_Silent_p.L165L|SHC1_ENST00000368450.1_Silent_p.L284L|SHC1_ENST00000368453.4_Silent_p.L284L|SHC1_ENST00000606391.1_Silent_p.L195L|SHC1_ENST00000368445.5_Silent_p.L394L	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	394	CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAACTTACCAATGTAGCTCCC	0.607000													3	43					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356737	42356737	+	Silent	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr14:42356737G>A	ENST00000554171.1	+	5	3341	c.909G>A	c.(907-909)agG>agA	p.R303R	LRFN5_ENST00000554120.1_Silent_p.R303R|LRFN5_ENST00000298119.4_Silent_p.R303R			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	303	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGGACAAAGGGCAACACTGA	0.483000										HNSCC(30;0.082)			42	44					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30409441	30409441	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:30409441C>T	ENST00000333027.3	+	14	1742	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	MTMR3_ENST00000401950.2_Missense_Mutation_p.R472C|MTMR3_ENST00000323630.5_Missense_Mutation_p.R336C|MTMR3_ENST00000351488.3_Missense_Mutation_p.R472C|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.R472C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	472	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTGAATGAACGTTGCCCAGT	0.473000													19	155					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282410	152282410	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:152282410C>T	ENST00000368799.1	-	3	4987	c.4952G>A	c.(4951-4953)aGa>aAa	p.R1651K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1651	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGATTGTCTGGAGCTCTC	0.552000									Ichthyosis				160	209					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15406266	15406266	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:15406266C>A	ENST00000225576.3	-	6	838	c.743G>T	c.(742-744)tGg>tTg	p.W248L	TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2			trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		CCTCCAGGCCCAAAGCCGCAA	0.587000													19	8					4.96729e-08	5.04872e-08	1	1	0
NUTM2G	441457	broad.mit.edu	37	9	99697711	99697711	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr9:99697711G>A	ENST00000354649.3	+	3	1530	c.815G>A	c.(814-816)cGg>cAg	p.R272Q	NUTM2G_ENST00000372322.3_Missense_Mutation_p.R272Q|HIATL2_ENST00000506067.1_Intron	NM_001045477.2	NP_001038942.1			NUT family member 2G																		AACTTTGACCGGATGATTTTC	0.652000													7	95					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196709884	196709884	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:196709884G>T	ENST00000367429.4	+	18	3158	c.2918G>T	c.(2917-2919)tGc>tTc	p.C973F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	973	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTGCAAAATGCTTAGGAGAA	0.358000													33	33					1.60099e-16	1.70014e-16	1	1	0
MCTP1	79772	broad.mit.edu	37	5	94353187	94353187	+	Splice_Site	SNP	T	T	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:94353187T>A	ENST00000515393.1	-	2	721	c.720_splice	c.e2-1	p.K241_splice	MCTP1_ENST00000312216.8_Splice_Site_p.K20_splice|MCTP1_ENST00000429576.2_Splice_Site_p.K20_splice|MCTP1_ENST00000505208.1_Splice_Site_p.K20_splice	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	241					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTTTATTATTTTCTGGAAAAC	0.343000													27	22					0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77930359	77930359	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:77930359C>T	ENST00000361507.4	-	10	2075	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	GAB2_ENST00000340149.2_Missense_Mutation_p.V626M	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	664					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GACTGCCGCACGTCTGTCCAC	0.592000													39	37					0	0	1	0	0
MYBPH	4608	broad.mit.edu	37	1	203138381	203138381	+	Splice_Site	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:203138381C>T	ENST00000255416.4	-	8	1287	c.1230_splice	c.e8+1	p.K410_splice		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	410	Ig-like C2-type 2.			RASPKP -> ELHQA (in Ref. 1; AAA36339).	cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGCCCCTCACCTTGGGTGAAG	0.647000													11	18					0	0	1	0	0
AP5B1	91056	broad.mit.edu	37	11	65545388	65545388	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:65545388T>C	ENST00000532090.2	-	2	2786	c.2576A>G	c.(2575-2577)gAt>gGt	p.D859G		NM_138368.4	NP_612377.4	Q2VPB7	YK046_HUMAN	adaptor-related protein complex 5, beta 1 subunit	802							protein binding			lung(1)	1						GGCCCAGTCATCGGTCCGCAG	0.697000													5	2					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26761444	26761444	+	Silent	SNP	C	C	T	rs146313552	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:26761444C>T	ENST00000529632.2	+	13	2902	c.2706C>T	c.(2704-2706)taC>taT	p.Y902Y	SEZ6L_ENST00000402979.1_Silent_p.Y675Y|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000404234.3_Silent_p.Y902Y|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000360929.3_Silent_p.Y838Y|SEZ6L_ENST00000411842.2_Silent_p.Y99Y|SEZ6L_ENST00000248933.6_Silent_p.Y902Y	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	902	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCATGTGCTACGAAGGCTTTG	0.552000													11	88					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44538242	44538242	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr20:44538242C>T	ENST00000542937.1	-	4	992	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45Q|PLTP_ENST00000372431.3_Missense_Mutation_p.R133Q|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000477313.1_Missense_Mutation_p.R133Q			P55058	PLTP_HUMAN	phospholipid transfer protein	133					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGCGGGATCCCGGGAGAGCTC	0.597000													7	138					0	0	1	0	0
FAM81B	153643	broad.mit.edu	37	5	94782294	94782294	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:94782294G>A	ENST00000283357.5	+	8	968	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	308										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TAATCTGTACGAAGAAGTTGA	0.279000													9	20					0	0	1	0	0
FAM89B	23625	broad.mit.edu	37	11	65340909	65340909	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:65340909C>A	ENST00000316409.2	+	2	649	c.328C>A	c.(328-330)Cac>Aac	p.H110N	FAM89B_ENST00000530349.1_Missense_Mutation_p.H123N|FAM89B_ENST00000449319.2_Missense_Mutation_p.T126K	NM_001098784.1|NM_001098785.1|NM_152832.2	NP_001092254.1|NP_001092255.1|NP_690045.1	Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	110										large_intestine(1)|urinary_tract(2)	3						GGACTACAAACACCTGTGCCA	0.612000													3	30					1	1	1	1	0
ZFAT	57623	broad.mit.edu	37	8	135612748	135612748	+	Silent	SNP	G	G	A	rs144002982	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr8:135612748G>A	ENST00000520727.1	-	8	2669	c.2370C>T	c.(2368-2370)acC>acT	p.T790T	ZFAT_ENST00000429442.2_Silent_p.T790T|ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000523399.1_Silent_p.T740T|ZFAT_ENST00000520356.1_Silent_p.T790T|ZFAT_ENST00000520214.1_Silent_p.T790T|ZFAT_ENST00000377838.3_Silent_p.T802T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACAGCCATCGGTGGGACACT	0.448000													17	231					0	0	1	0	0
FUNDC2	65991	broad.mit.edu	37	X	154282921	154282921	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chrX:154282921G>C	ENST00000369498.3	+	5	798	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	182						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTTTCGGAGGCTTTCTGCT	0.428000													4	86					0	0	1	0	0
TRIM51HP	0	broad.mit.edu	37	11	55065642	55065642	+	RNA	SNP	C	C	A			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:55065642C>A	ENST00000526016.1	-	0	66					NR_038174.2																						ACAGGGCCGGCAAAAGCTGTG	0.488000													25	34					9.57634e-11	9.89555e-11	1	1	0
LRRC37A5P	0	broad.mit.edu	37	9	114371322	114371322	+	RNA	SNP	T	T	A	rs4978450	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr9:114371322T>A	ENST00000374304.1	-	0	477																											TTTCTGTTCATTCTGGGCTTC	0.483000													3	26					0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153943759	153943759	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr3:153943759delT	ENST00000356448.4	+	11	2334	c.2050delT	c.(2050-2052)ttfs	p.F684fs	ARHGEF26_ENST00000465093.1_Frame_Shift_Del_p.F684fs|ARHGEF26_ENST00000465817.1_Intron|ARHGEF26_ENST00000483068.1_3'UTR	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	684	PH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AGTCTACTTCTTTCTCTTTAA	0.403													15	31	---	---	---	---					
RP11-571L19.7	0	broad.mit.edu	37	4	99877753	99877754	+	RNA	DEL	AA	AA	-	rs33952764		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr4:99877753_99877754delAA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaaa	0.450													3	6	---	---	---	---					
RAPGEF6	51735	broad.mit.edu	37	5	130857100	130857102	+	In_Frame_Del	DEL	AAC	AAC	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:130857100_130857102delAAC	ENST00000509018.1	-	7	813_815	c.608_610delGTT	c.(607-612)ata>a	p.SL203del	RAPGEF6_ENST00000510071.1_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000308008.6_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000296859.6_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000307984.5_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000507093.1_In_Frame_Del_p.SL203del|FNIP1_ENST00000514667.1_In_Frame_Del_p.SL253del	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	203					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATATCAGATAAACTGCTGCTTCC	0.404													33	58	---	---	---	---					
GS1-124K5.2	0	broad.mit.edu	37	7	65888987	65888987	+	RNA	DEL	C	C	-	rs77289928		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:65888987delC	ENST00000442578.1	-	0	826																											Ctttttttttctttttttttt	0.483													2	4	---	---	---	---					
ATP8B5P	0	broad.mit.edu	37	9	35450410	35450411	+	RNA	INS	-	-	T			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr9:35450410_35450411insT	ENST00000430846.1	+	0	3260_3261																											TTGACTTGAGGTTTTTTTTTCC	0.342													2	4	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26580952	26580952	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr12:26580952delA	ENST00000381340.3	-	49	7255	c.6839delT	c.(6838-6840)tcfs	p.F2281fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2281					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTTGGAGAAGAAAAACAGCAT	0.393													17	27	---	---	---	---					
IL27	246778	broad.mit.edu	37	16	28511176	28511178	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr16:28511176_28511178delCTC	ENST00000356897.1	-	5	548_550	c.526_528delGAG	c.(526-528)del	p.E176del		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	176	Glu-rich.				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GCCCCTtcctctcctcctcctcc	0.685													3	3	---	---	---	---