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
CADPS	8618	broad.mit.edu	37	3	62570955	62570955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr3:62570955C>T	ENST00000383710.4	-	8	1831	c.1482G>A	c.(1480-1482)tgG>tgA	p.W494*	CADPS_ENST00000283269.9_Nonsense_Mutation_p.W494*|CADPS_ENST00000357948.3_Nonsense_Mutation_p.W494*	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	494					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCATTTTGTGCCACTCTGACT	0.438000													4	138					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													4	187					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461589	11461589	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr12:11461589A>G	ENST00000279575.1	-	3	361	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PRB4_ENST00000445719.2_Missense_Mutation_p.S110P|PRB4_ENST00000535904.1_Missense_Mutation_p.S110P	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	152	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GTACCTTGGGACTGGTTTCCT	0.602000										HNSCC(22;0.051)			10	466					0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150924510	150924510	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr5:150924510T>C	ENST00000261800.5	-	9	6190	c.6178A>G	c.(6178-6180)Att>Gtt	p.I2060V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2060	Cadherin 17.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATCCTCAATAGAGACTCTG	0.522000													5	123					0	0	1	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11126	11126	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chrM:11126G>A	ENST00000361381.2	+	1	367	c.367G>A	c.(367-369)Gaa>Aaa	p.123_123insK						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						ATATCTTCTTCGAAACCACAC	0.413000													6	0					0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46310012	46310012	+	Missense_Mutation	SNP	A	A	G			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr21:46310012A>G	ENST00000397850.2	-	13	1990	c.1538T>C	c.(1537-1539)gTc>gCc	p.V513A	ITGB2_ENST00000355153.4_Missense_Mutation_p.V513A|ITGB2_ENST00000302347.5_Missense_Mutation_p.V513A|ITGB2_ENST00000397857.1_Missense_Mutation_p.V513A|ITGB2_ENST00000397854.3_Missense_Mutation_p.V456A|ITGB2_ENST00000397852.1_Missense_Mutation_p.V513A			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	513	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTGCCCGCAGACACAGTCCCC	0.612000													12	30					0	0	1	0	0
ANXA7	310	broad.mit.edu	37	10	75138726	75138726	+	Missense_Mutation	SNP	C	C	A			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr10:75138726C>A	ENST00000372921.4	-	12	1277	c.1221G>T	c.(1219-1221)atG>atT	p.M407I	ANXA7_ENST00000535178.1_Missense_Mutation_p.M277I	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	429							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					CAGCACCTTTCATAGCATAGT	0.512000													13	19					1.5739e-10	1.62159e-10	1	1	0
RPL13A	23521	broad.mit.edu	37	19	49994080	49994080	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr19:49994080C>T	ENST00000391857.4	+	5	377	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	101					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CGCTCTGGACCGTCTCAAGGT	0.607000													13	94					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615287	55615287	+	Missense_Mutation	SNP	C	C	T	rs111283936		TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr12:55615287C>T	ENST00000326258.1	+	1	479	c.479C>T	c.(478-480)aCa>aTa	p.T160I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						ATGCTACAGACAGCTTGGATG	0.483000													4	106					0	0	1	0	0
HSD11B2	3291	broad.mit.edu	37	16	67470629	67470629	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr16:67470629C>T	ENST00000326152.5	+	5	1073	c.941C>T	c.(940-942)gCc>gTc	p.A314V		NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	314					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	CTACGCCTGGCCATGTCCGAC	0.637000													4	143					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													4	85					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42772705	42772705	+	Silent	SNP	G	G	A			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr13:42772705G>A	ENST00000379274.2	+	18	2280	c.1851G>A	c.(1849-1851)ccG>ccA	p.P617P	DGKH_ENST00000337343.4_Silent_p.P753P|DGKH_ENST00000261491.4_Silent_p.P753P|DGKH_ENST00000540693.1_Silent_p.P753P|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Silent_p.P508P|DGKH_ENST00000536612.1_Silent_p.P617P			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	753					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTGCCACGCCGTTTATTGACC	0.378000													5	46					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505712	130505712	+	Missense_Mutation	SNP	T	T	A	rs146866847	byFrequency	TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr6:130505712T>A	ENST00000532763.1	-	5	563	c.434A>T	c.(433-435)tAt>tTt	p.Y145F	SAMD3_ENST00000368134.2_Missense_Mutation_p.Y147F|SAMD3_ENST00000457563.2_Missense_Mutation_p.Y171F|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.Y147F|SAMD3_ENST00000324172.6_Missense_Mutation_p.Y147F|SAMD3_ENST00000437477.2_Missense_Mutation_p.Y147F			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	147										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TGGTAAAACATAGGACTTCGT	0.388000													20	31					0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35737239	35737239	+	Missense_Mutation	SNP	T	T	C			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr9:35737239T>C	ENST00000378103.3	-	17	3234	c.2711A>G	c.(2710-2712)aAa>aGa	p.K904R	GBA2_ENST00000378094.4_3'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.K910R|GBA2_ENST00000378088.1_3'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	904					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGTGCCCTGTTTGACTTTTGG	0.572000													30	74					0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105173320	105173320	+	Missense_Mutation	SNP	G	G	A			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr14:105173320G>A	ENST00000392634.4	+	7	1029	c.917G>A	c.(916-918)cGc>cAc	p.R306H	INF2_ENST00000330634.7_Missense_Mutation_p.R306H	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	306	GBD/FH3.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCACCCTCCGCTCCAGCCAG	0.721000													8	14					0	0	1	0	0
BUB3	9184	broad.mit.edu	37	10	124914499	124914499	+	Silent	SNP	C	C	T			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr10:124914499C>T	ENST00000368865.4	+	2	275	c.66C>T	c.(64-66)ttC>ttT	p.F22F	BUB3_ENST00000368859.2_Silent_p.F22F|BUB3_ENST00000538238.1_Intron|BUB3_ENST00000368858.5_Silent_p.F22F	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	22					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCGTGAAGTTCAGCCCCAACA	0.607000													7	144					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555048	178555048	+	Silent	SNP	G	G	A			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr5:178555048G>A	ENST00000251582.7	-	17	2630	c.2529C>T	c.(2527-2529)gtC>gtT	p.V843V		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	843	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTTGTCGTCGACATTCAGTG	0.582000													12	90					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													10	156					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				28	66					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70188996	70188996	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr12:70188996G>T	ENST00000550536.1	+	6	1265	c.808G>T	c.(808-810)Gag>Tag	p.E270*	RAB3IP_ENST00000483530.2_Nonsense_Mutation_p.E254*|RAB3IP_ENST00000553099.1_Nonsense_Mutation_p.E48*|RAB3IP_ENST00000551641.1_Nonsense_Mutation_p.E48*|RAB3IP_ENST00000247833.7_Nonsense_Mutation_p.E254*|RAB3IP_ENST00000378815.6_Nonsense_Mutation_p.E254*|RAB3IP_ENST00000362025.5_Nonsense_Mutation_p.E270*|RAB3IP_ENST00000325555.9_Nonsense_Mutation_p.E48*	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	270					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ACCTACGCAGGAGCCTTTGCC	0.433000													13	51					1.5842e-08	1.5842e-08	1	1	0
AP2B1	163	broad.mit.edu	37	17	33953801	33953801	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr17:33953801C>T	ENST00000262325.7	+	7	1431	c.878C>T	c.(877-879)tCt>tTt	p.S293F	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Missense_Mutation_p.S293F|AP2B1_ENST00000538556.1_Missense_Mutation_p.S236F|AP2B1_ENST00000537622.2_Missense_Mutation_p.S293F|AP2B1_ENST00000592545.1_Missense_Mutation_p.S255F|AP2B1_ENST00000312678.8_Missense_Mutation_p.S293F	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	293					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACTTTGCTGTCTGGGGAGCCA	0.408000													13	251					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7129573	7129573	+	Missense_Mutation	SNP	C	C	T			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr17:7129573C>T	ENST00000005340.5	-	15	2104	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	DVL2_ENST00000575458.1_Missense_Mutation_p.E602K	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	608					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCCCGCTCCTCGGGCCTCCCC	0.716000													35	81					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799059	39799060	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr1:39799059_39799060insG	ENST00000564288.1	+	37	7576_7577	c.6799_6800insG	c.(6799-6801)ggafs	p.G2267fs	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2272					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGATAGTGGCAGGGAAATTTTT	0.391													23	93	---	---	---	---					
TCHH	7062	broad.mit.edu	37	1	152084453	152084454	+	In_Frame_Ins	INS	-	-	CTC			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr1:152084453_152084454insCTC	ENST00000368804.1	-	2	1238_1239	c.1239_1240insGAG	c.(1237-1242)ctggcg>ctGAGggcg	p.413_414LA>LRA		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	413	8 X 6 AA tandem repeats of R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctcgcgcctcagctgctgct	0.708													9	29	---	---	---	---					
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr3:33602361delT	ENST00000399362.4	-	28	3243	c.2890delA	c.(2890-2892)tgfs	p.M964fs	CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													8	154	---	---	---	---					
FAM3C	10447	broad.mit.edu	37	7	121011438	121011438	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr7:121011438delG	ENST00000359943.3	-	5	401	c.188delC	c.(187-189)gtfs	p.A63fs		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	63					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					CTCAGGGCAAGCTTTTGAGAT	0.418													14	102	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241029	131241030	+	In_Frame_Ins	INS	-	-	GGCGAC	rs11277659	by1000genomes	TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr7:131241029_131241030insGGCGAC	ENST00000541194.1	-	1	346_347	c.89_90insGTCGCC	c.(88-90)ctc>cGTCGCCtc	p.29_30insRR	PODXL_ENST00000537928.1_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000322985.9_In_Frame_Ins_p.29_30insRR|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000378555.3_In_Frame_Ins_p.29_30insRR	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	29					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTGGGAGggcgacggcga	0.752													6	12	---	---	---	---					
DPY19L2	283417	broad.mit.edu	37	12	64055263	64055263	+	Splice_Site	DEL	T	T	-	rs565018		TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr12:64055263delT	ENST00000324472.4	-	4	634		c.e4-2		RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATAAAGTCCCTTTTTTTAAAA	0.259													7	39	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													16	65	---	---	---	---					
RXFP2	122042	broad.mit.edu	37	13	32376429	32376429	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr13:32376429delA	ENST00000298386.2	+	18	2223	c.2152delA	c.(2152-2154)aafs	p.K720fs	RXFP2_ENST00000380314.1_Frame_Shift_Del_p.K696fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	720						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTTCAAAATTAAAAAAAAAAG	0.348													10	178	---	---	---	---					
ZIC2	7546	broad.mit.edu	37	13	100634394	100634396	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr13:100634394_100634396delGCG	ENST00000376335.3	+	1	369_371	c.76_78delGCG	c.(76-78)del	p.A33del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	33	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTccgccgcggcggcggcgg	0.759													3	5	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493794	77493795	+	In_Frame_Ins	INS	-	-	TGC	rs28718623		TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr14:77493794_77493795insTGC	ENST00000238647.3	-	1	1239_1240	c.341_342insGCA	c.(340-342)cca>cGCAca	p.114_114P>RT		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						gctgctgctgttgctgctgctg	0.698													3	6	---	---	---	---					
IGHV3-48	0	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304																											TAGTATATGGTACTACTACTACT	0.502													7	412	---	---	---	---					
SHANK1	50944	broad.mit.edu	37	19	51169909	51169932	+	In_Frame_Del	DEL	GCCGCAGGCCTCCGCTGGCTCCTA	GCCGCAGGCCTCCGCTGGCTCCTA	-			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr19:51169909_51169932delGCCGCAGGCCTCCGCTGGCTCCTA	ENST00000293441.1	-	22	5303_5326	c.5285_5308delTAGGAGCCAGCGGAGGCCTGCGGC	c.(5284-5310)cct>c	p.LGASGGLRP1762del	SHANK1_ENST00000359082.3_In_Frame_Del_p.LGASGGLRP1753del|SHANK1_ENST00000391814.1_In_Frame_Del_p.LGASGGLRP1770del|SHANK1_ENST00000391813.1_In_Frame_Del_p.LGASGGLRP1149del|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1762					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTGGGGCCAGGCCGCAGGCCTCCGCTGGCTCCTAGCGCCCGGCC	0.710													5	8	---	---	---	---					
CTCFL	140690	broad.mit.edu	37	20	56099187	56099187	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IM-A4EB-01A-11D-A257-08	TCGA-IM-A4EB-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5bef3aca-9104-4a11-a735-68f11da7e745	73fef16c-27c8-4dee-9510-1fac2af7534e	g.chr20:56099187delT	ENST00000426658.2	-	1	736	c.75delA	c.(73-75)aafs	p.K25fs	CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	25					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCAGGCCTTTTTCCGGCA	0.502													9	560	---	---	---	---					
