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
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													12	479					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K														p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333000													8	308					1.5842e-08	1.72588e-08	1	1	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													4	133					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7527078	7527078	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:7527078G>A	ENST00000313599.3	-	13	3426	c.3369C>T	c.(3367-3369)caC>caT	p.H1123H	CD163L1_ENST00000416109.2_Silent_p.H1133H|CD163L1_ENST00000396630.1_Silent_p.H1123H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1123	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCTGCAGTCGTGCTGCCCCC	0.607000													5	270					0	0	1	0	0
C19orf55	148137	broad.mit.edu	37	19	36253204	36253204	+	Missense_Mutation	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:36253204G>T	ENST00000544099.1	+	5	553	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	C19orf55_ENST00000396908.4_Missense_Mutation_p.V164F|C19orf55_ENST00000536950.1_Missense_Mutation_p.V163F|C19orf55_ENST00000537459.1_Missense_Mutation_p.V164F|C19orf55_ENST00000421853.2_Missense_Mutation_p.V64F			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	164										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTACTGCGGTCAACGTGAC	0.572000													8	41					0.000157383	0.000166058	1	1	0
ELTD1	64123	broad.mit.edu	37	1	79387436	79387436	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:79387436C>T	ENST00000370742.3	-	9	1182	c.1119G>A	c.(1117-1119)tgG>tgA	p.W373*		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	373	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GTGAGTAATTCCAAAATGCAC	0.398000													35	196					0	0	1	0	0
UGT1A8	0	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G	rs150485330		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3												p.T4A(3)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		CATGGCTCGCACAGGGTGGAC	0.562000													4	222					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1582381	1582381	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:1582381C>T	ENST00000572621.1	-	10	1794	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R510H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	510						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAGGTTTTTGCGGTGAATGAG	0.537000													5	354					0	0	1	0	0
RBBP7	5931	broad.mit.edu	37	X	16870947	16870947	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:16870947C>T	ENST00000380087.2	-	7	1170	c.810G>A	c.(808-810)gcG>gcA	p.A270A	RBBP7_ENST00000404022.1_Silent_p.A261A|RBBP7_ENST00000380084.4_Silent_p.A314A			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	270					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					CGGCAGTGTGCGCATCCACCA	0.502000													5	343					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12760241	12760241	+	Splice_Site	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12760241G>A	ENST00000456935.2	-	19	2309	c.2267_splice	c.e19-1	p.R757_splice	MAN2B1_ENST00000221363.4_Splice_Site_p.R756_splice	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	757					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGATAATCCCGCCTGGGGTTG	0.522000													15	70					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84694186	84694186	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:84694186C>T	ENST00000286744.5	+	27	4878	c.4654C>T	c.(4654-4656)Cgg>Tgg	p.R1552W	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R1552W	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1552						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCAGGGAACCGGGTAAAGCT	0.478000													21	67					0	0	1	0	0
FRG1	2483	broad.mit.edu	37	4	190878604	190878604	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:190878604G>A	ENST00000226798.4	+	6	706	c.484G>A	c.(484-486)Gca>Aca	p.A162T	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	162					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ATGCAATGAAGCAGGGGACAT	0.383000													4	200					0	0	1	0	0
MIR329-1	0	broad.mit.edu	37	14	101493161	101493161	+	RNA	SNP	A	A	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:101493161A>T	ENST00000385028.1	+	0	40					NR_029967.1																						TGTTTCTTTAATGAGGACGAA	0.468000													7	426					0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69832593	69832593	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:69832593G>A	ENST00000359154.2	+	3	180	c.79G>A	c.(79-81)Gca>Aca	p.A27T	WWP2_ENST00000569174.1_Missense_Mutation_p.A27T|WWP2_ENST00000448661.1_Missense_Mutation_p.A27T|WWP2_ENST00000356003.2_Missense_Mutation_p.A27T	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	27	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGTGGTGTCCGCAAAGCCCAA	0.527000											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	373					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582000													7	671					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104709490	104709490	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:104709490G>A	ENST00000406091.3	+	2	353	c.353G>A	c.(352-354)cGt>cAt	p.R118H		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	149	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTGTGCTCGTTGTGGAGGT	0.413000										HNSCC(12;0.0054)			74	294					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33060032	33060032	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:33060032G>A	ENST00000307363.5	-	13	1399	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	GLB1_ENST00000399402.3_Missense_Mutation_p.R389W|GLB1_ENST00000307377.8_Missense_Mutation_p.R288W|GLB1_ENST00000445488.2_Missense_Mutation_p.R467W|GLB1_ENST00000497796.1_5'UTR	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	419					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				AGTGTTGTCCGGTACAGCACA	0.433000													4	226					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44270894	44270894	+	Missense_Mutation	SNP	G	G	A	rs145436818	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:44270894G>A	ENST00000244571.4	-	16	2166	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	722					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	p.R722W(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GATACCACCCGCACAGGGTCT	0.607000													5	199					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.					transcription factor TFIIIC complex	DNA binding|protein binding	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468000													6	181					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49722972	49722972	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:49722972C>T	ENST00000551245.1	+	10	1160	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	TROAP_ENST00000257909.3_Missense_Mutation_p.T350I|TROAP_ENST00000547923.1_Missense_Mutation_p.T58I			Q12815	TROAP_HUMAN	trophinin associated protein	350					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						CGGCGTCTCACCGTTCAACCT	0.552000													7	680					0	0	1	0	0
PCDHGB3	0	broad.mit.edu	37	5	140751055	140751055	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140751055C>T	ENST00000576222.1	+	1	1225	c.1094C>T	c.(1093-1095)gCc>gTc	p.A365V	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGGGACTGCCGTTGCCCTG	0.408000													6	121					0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37741700	37741700	+	Silent	SNP	A	A	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:37741700A>T	ENST00000400485.1	+	15	2110	c.2034A>T	c.(2032-2034)atA>atT	p.I678I	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	678					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGCAAAGATACATGAAACCC	0.413000													27	162					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106878520	106878520	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:106878520C>T	ENST00000286398.7	+	14	1999	c.1711C>T	c.(1711-1713)Cgt>Tgt	p.R571C	SMC2_ENST00000303219.8_Missense_Mutation_p.R571C|SMC2_ENST00000374787.3_Missense_Mutation_p.R571C|SMC2_ENST00000374793.3_Missense_Mutation_p.R571C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	571	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAACTGAAACGTCGATACAC	0.348000													27	130					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41961798	41961798	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:41961798G>A	ENST00000219905.7	+	2	887	c.706G>A	c.(706-708)Gta>Ata	p.V236I	MGA_ENST00000570161.1_Missense_Mutation_p.V236I|MGA_ENST00000566586.1_Missense_Mutation_p.V236I|MGA_ENST00000568630.1_Intron|MGA_ENST00000389936.4_Missense_Mutation_p.V236I|MGA_ENST00000545763.1_Missense_Mutation_p.V236I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	236						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATTCTTTGCAGTAACAGCTTA	0.438000													4	118					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:46279830G>A	ENST00000372004.3	+	20	3960	c.3744G>A	c.(3742-3744)caG>caA	p.Q1248Q	NCOA3_ENST00000341724.6_Silent_p.Q1178Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000371997.3_Silent_p.Q1243Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547000													5	199					0	0	1	0	0
PCDHA9	0	broad.mit.edu	37	5	140228551	140228551	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140228551G>A	ENST00000378122.3	+	1	1195	c.471G>A	c.(469-471)gcG>gcA	p.A157A	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Silent_p.A157A|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGAGGGCGCGTCCGATGCAG	0.537000													43	205					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24418739	24418739	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:24418739C>T	ENST00000330966.7	-	11	1322	c.1160G>A	c.(1159-1161)aGa>aAa	p.R387K	MYOM3_ENST00000329601.7_Missense_Mutation_p.R386K|MYOM3_ENST00000374434.3_Missense_Mutation_p.R386K|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	386	Fibronectin type-III 1.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GAGGCAGTCTCTGTTCACATC	0.647000													7	432					0	0	1	0	0
SV2A	0	broad.mit.edu	37	1	149885316	149885316	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:149885316G>A	ENST00000369146.3	-	2	567	c.77C>T	c.(76-78)gCg>gTg	p.A26V	SV2A_ENST00000369145.1_Missense_Mutation_p.A26V	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	26	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CTTCTTGGCCGCATGCTTTTT	0.547000													5	475					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618670	7618670	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:7618670C>T	ENST00000256861.6	-	10	1802	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	ITIH5_ENST00000446830.2_Missense_Mutation_p.R357H|ITIH5_ENST00000298441.6_Missense_Mutation_p.R361H|ITIH5_ENST00000397145.2_Missense_Mutation_p.R575H|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.R575H	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	575					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCTCCAGAGACGCTCGATGTG	0.627000													38	152					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													4	82					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71347185	71347185	+	Missense_Mutation	SNP	T	T	C	rs79807294	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:71347185T>C	ENST00000413702.1	+	4	1012	c.724T>C	c.(724-726)Tct>Cct	p.S242P	MUC7_ENST00000456088.1_Missense_Mutation_p.S242P|MUC7_ENST00000304887.5_Missense_Mutation_p.S242P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	242	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.592000													6	733					0	0	1	0	0
TRIM51HP	0	broad.mit.edu	37	11	55063026	55063026	+	RNA	SNP	T	T	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:55063026T>G	ENST00000526016.1	-	0	611					NR_038174.2																						CCATTCTGGCTTTGCTTTCAT	0.423000													22	173					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695238	109695238	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:109695238G>A	ENST00000465301.2	+	3	1639	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A465T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	465										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGTAATGTCCGCACAGTTAAC	0.512000													5	302					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153916630	153916630	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:153916630C>A	ENST00000361217.4	-	2	639	c.221G>T	c.(220-222)gGc>gTc	p.G74V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	74	MABP.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAAGGGGTGGCCCCCAGCAGA	0.642000													5	131					3.59834e-05	3.8268e-05	1	1	0
SGSM1	129049	broad.mit.edu	37	22	25280108	25280108	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:25280108C>T	ENST00000400358.4	+	15	1641	c.1584C>T	c.(1582-1584)tgC>tgT	p.C528C	SGSM1_ENST00000400359.4_Silent_p.C583C	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	583						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ACTTGCCCTGCGATGCTGGAC	0.582000													26	113					0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99917393	99917393	+	Missense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:99917393C>A	ENST00000332397.6	+	9	1736	c.1552C>A	c.(1552-1554)Cgc>Agc	p.R518S	SPDYE3_ENST00000437326.2_Missense_Mutation_p.R141S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	518										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CTGTTCCATGCGCTGCAGGGC	0.612000													6	327					1.52009e-12	1.68341e-12	1	1	0
SNX27	81609	broad.mit.edu	37	1	151611351	151611351	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:151611351T>C	ENST00000368838.1	+	1	20	c.20T>C	c.(19-21)cTt>cCt	p.L7P	SNX27_ENST00000368843.3_Intron|SNX27_ENST00000458013.2_Intron			Q96L92	SNX27_HUMAN	sorting nexin family member 27	0					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTTTTTCCCTTTTTCCCCTT	0.493000													5	175					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78348328	78348328	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:78348328G>A	ENST00000582970.1	+	50	13156	c.13013G>A	c.(13012-13014)cGt>cAt	p.R4338H	RNF213_ENST00000336301.6_Missense_Mutation_p.R2411H|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4387H|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGGCTCTCCGTGATGCTGTG	0.577000													65	225					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062235	194062235	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:194062235G>A	ENST00000323830.3	-	2	1286	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	CPN2_ENST00000429275.1_Silent_p.C399C	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	399	LRRCT.				protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	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;4.65e-05)		GGTGGCAGTCGCACTGCCAGG	0.597000													60	194					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:123780522G>A	ENST00000420886.2	-	31	4114	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433000													6	554					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467397	74467397	+	Silent	SNP	G	G	A	rs145245668	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:74467397G>A	ENST00000249842.3	+	2	555	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ISLR_ENST00000395118.1_Silent_p.P66P|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	66					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAGGCTTGCCGGAGGGTGCCT	0.667000													6	334					0	0	1	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	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													7	179					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190560943	190560943	+	Missense_Mutation	SNP	G	G	A	rs116405601	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:190560943G>A	ENST00000520309.1	+	7	1644	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H	ANKAR_ENST00000438402.2_Missense_Mutation_p.R519H|ANKAR_ENST00000431575.2_Missense_Mutation_p.R448H|ANKAR_ENST00000281412.6_Missense_Mutation_p.R283H|ANKAR_ENST00000313581.4_Missense_Mutation_p.R519H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	519						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ACATTTAGCCGTAAAACCTCA	0.378000													5	337					0	0	1	0	0
IFRD2	7866	broad.mit.edu	37	3	50329757	50329757	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:50329757C>T	ENST00000336089.4	-	4	446	c.447G>A	c.(445-447)gaG>gaA	p.E149E	IFRD2_ENST00000429673.2_Silent_p.E47E|IFRD2_ENST00000436390.1_5'UTR|IFRD2_ENST00000417626.2_5'UTR			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	47							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGGTGTGGGCTCCAGGCCAA	0.756000													8	26					0	0	1	0	0
VASP	7408	broad.mit.edu	37	19	46021317	46021317	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:46021317C>T	ENST00000245932.6	+	3	664	c.308C>T	c.(307-309)gCc>gTc	p.A103V	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	103	WH1.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		GCCCAGTTTGCCGCCGGCATG	0.642000													4	194					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:21730847G>T	ENST00000584755.1	+	2	546	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522000													4	129					0.00024832	0.000257945	1	1	0
FOXP2	93986	broad.mit.edu	37	7	114270018	114270018	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:114270018G>A	ENST00000393500.3	+	11	1150	c.330G>A	c.(328-330)caG>caA	p.Q110Q	FOXP2_ENST00000393491.3_Silent_p.Q93Q|FOXP2_ENST00000390668.3_Silent_p.Q209Q|FOXP2_ENST00000350908.4_Silent_p.Q185Q|FOXP2_ENST00000378237.3_Silent_p.Q185Q|FOXP2_ENST00000408937.3_Silent_p.Q210Q|FOXP2_ENST00000393498.2_Silent_p.Q165Q|FOXP2_ENST00000393489.3_Silent_p.Q93Q|FOXP2_ENST00000360232.4_Silent_p.Q185Q|FOXP2_ENST00000393494.2_Silent_p.Q185Q|FOXP2_ENST00000403559.4_Silent_p.Q202Q			O15409	FOXP2_HUMAN	forkhead box P2	185	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacagcagcagcagc	0.502000													6	198					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102300677	102300677	+	RNA	SNP	C	C	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:102300677C>G	ENST00000561463.1	+	0	8723																											AACCTGCAGACACTTGTGGAG	0.582000													12	88					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887579	12887579	+	Missense_Mutation	SNP	G	G	T	rs2486717	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:12887579G>T	ENST00000535591.1	-	3	473	c.278C>A	c.(277-279)aCa>aAa	p.T93K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	93								p.T93K(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CTGCACTGGTGTTTTGTTCCT	0.493000													8	969					4.68919e-08	5.06735e-08	1	1	0
ZNF860	344787	broad.mit.edu	37	3	32032046	32032046	+	Missense_Mutation	SNP	G	G	A	rs143925165	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:32032046G>A	ENST00000360311.4	+	2	2024	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AAGACCTTCCGTCACAATTCA	0.403000													5	299					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296152	39296152	+	Silent	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:39296152A>G	ENST00000345847.4	-	1	587	c.588T>C	c.(586-588)cgT>cgC	p.R196R		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	192						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGCACAAGGGACGGGGGCAGG	0.597000													6	41					0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72754901	72754901	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:72754901C>T	ENST00000325509.4	-	2	905	c.616G>A	c.(616-618)Gct>Act	p.A206T	MSC_ENST00000518440.1_5'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	206					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.A206T(2)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCGATTTAAGCGGTGGTTCCA	0.493000													254	1073					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21731075	21731075	+	Missense_Mutation	SNP	T	T	G	rs111568648		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:21731075T>G	ENST00000584755.1	+	2	774	c.377T>G	c.(376-378)cTg>cGg	p.L126R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L126R|UBBP4_ENST00000583708.1_3'UTR																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCTGGAAGATGGC	0.537000													6	193					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408000													7	533					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57224419	57224419	+	Silent	SNP	A	A	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:57224419A>C	ENST00000343433.6	-	6	1148	c.1068T>G	c.(1066-1068)acT>acG	p.T356T	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	356										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CAACTTCATAAGTTGCTAAAG	0.318000													19	71					0	0	1	0	0
USP10	9100	broad.mit.edu	37	16	84793046	84793046	+	Silent	SNP	G	G	A	rs113266067		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:84793046G>A	ENST00000219473.7	+	6	1475	c.1362G>A	c.(1360-1362)agG>agA	p.R454R	USP10_ENST00000570191.1_Silent_p.R458R	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	454					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AAGTGCAAAGGCCTTGTACGT	0.448000													6	194					0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206610562	206610562	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:206610562G>A	ENST00000360409.3	+	10	2525	c.1734G>A	c.(1732-1734)tgG>tgA	p.W578*	NRP2_ENST00000540841.1_Nonsense_Mutation_p.W578*|NRP2_ENST00000540178.1_Nonsense_Mutation_p.W578*|NRP2_ENST00000357118.4_Nonsense_Mutation_p.W578*|NRP2_ENST00000357785.5_Nonsense_Mutation_p.W578*|NRP2_ENST00000272849.3_Nonsense_Mutation_p.W578*|NRP2_ENST00000412873.2_Nonsense_Mutation_p.W578*	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	578	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CGGAGAGGTGGTCGCCGGCGG	0.582000													49	151					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular	zinc ion binding	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338000													7	247					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													5	184					0.184627	0.184627	1	1	0
FOXP2	93986	broad.mit.edu	37	7	114270015	114270015	+	Silent	SNP	A	A	G	rs146945410	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:114270015A>G	ENST00000393500.3	+	11	1147	c.327A>G	c.(325-327)caA>caG	p.Q109Q	FOXP2_ENST00000393491.3_Silent_p.Q92Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000393494.2_Silent_p.Q184Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q			O15409	FOXP2_HUMAN	forkhead box P2	184	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacagcagcagc	0.502000													6	203					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46331114	46331114	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:46331114C>T	ENST00000245934.7	-	15	2292	c.2048G>A	c.(2047-2049)cGc>cAc	p.R683H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	683					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCAGTACTTGCGGACCACCTC	0.632000													6	777					0	0	1	0	0
BMP2	650	broad.mit.edu	37	20	6758933	6758933	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:6758933C>T	ENST00000378827.4	+	3	1607	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_001200.2	NP_001191.1	P12643	BMP2_HUMAN	bone morphogenetic protein 2	130					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GAAAACAACCCGGAGATTCTT	0.388000													14	195					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55944926	55944926	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:55944926C>T	ENST00000373965.2	-	13	1823	c.1429G>A	c.(1429-1431)Gac>Aac	p.D477N	PCDH15_ENST00000361849.3_Missense_Mutation_p.D470N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D448N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.D477N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395446.1_Missense_Mutation_p.D470N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D470N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D433N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D475N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D448N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D470N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D81N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D470N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	470	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTCCCTGTCCACTGGTTGA	0.398000										HNSCC(58;0.16)			42	175					0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114305358	114305358	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:114305358G>A	ENST00000309235.5	+	6	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	715					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AATTCATACCGGAAGGAGAGA	0.403000													4	255					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12906661	12906661	+	Missense_Mutation	SNP	G	G	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:12906661G>C	ENST00000380659.3	+	3	3173	c.3034G>C	c.(3034-3036)Gtc>Ctc	p.V1012L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1012	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TGGGAGTTCTGTCCTTGAGTG	0.478000													4	412					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296158	39296158	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:39296158G>A	ENST00000345847.4	-	1	581	c.582C>T	c.(580-582)tgC>tgT	p.C194C		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	190						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						AGGGACGGGGGCAGGTGGAAA	0.612000													6	42					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75269102	75269102	+	Silent	SNP	G	G	A	rs138166614		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:75269102G>A	ENST00000546196.1	-	5	3260	c.1608C>T	c.(1606-1608)ggC>ggT	p.G536G	BCAR1_ENST00000418647.3_Silent_p.G611G|BCAR1_ENST00000162330.5_Silent_p.G565G|BCAR1_ENST00000393420.6_Silent_p.G583G|BCAR1_ENST00000420641.3_Silent_p.G583G|BCAR1_ENST00000393422.2_Silent_p.G583G|BCAR1_ENST00000542031.2_Silent_p.G563G|BCAR1_ENST00000538440.2_Silent_p.G565G|BCAR1_ENST00000535626.2_Silent_p.G417G|BCAR1_ENST00000566982.1_5'UTR			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	565	Ser-rich.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCCTCCCCGGCCAGCGTCGA	0.682000													4	203					0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800557	48800557	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:48800557G>A	ENST00000315396.7	-	14	2371	c.1689C>T	c.(1687-1689)ggC>ggT	p.G563G		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	563										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGCTGAGGCCGCCAAAAGTGA	0.642000													5	254					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								4	87					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													4	103					0	0	1	0	0
COLGALT1	79709	broad.mit.edu	37	19	17679331	17679331	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:17679331G>A	ENST00000252599.4	+	5	758	c.638G>A	c.(637-639)cGc>cAc	p.R213H	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2			collagen beta(1-O)galactosyltransferase 1																		TACTACAAGCGCACACCTGCC	0.612000													5	267					0	0	1	0	0
RP11-419C5.2	0	broad.mit.edu	37	16	70010432	70010432	+	Silent	SNP	G	G	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:70010432G>T	ENST00000532298.1	-	7	845	c.846C>A	c.(844-846)tcC>tcA	p.S282S	PDXDC2P_ENST00000531894.1_RNA														p.S282S(2)		breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						TATCATCCACGGAGGGTGGAA	0.493000													3	72					0.00024832	0.000257945	1	1	0
GSN	2934	broad.mit.edu	37	9	124062285	124062285	+	Splice_Site	SNP	T	T	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:124062285T>G	ENST00000373818.4	+	1	213		c.e1+2		GSN_ENST00000341272.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000373808.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697000													26	50					0	0	1	0	0
DRD5	0	broad.mit.edu	37	4	9783938	9783938	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:9783938G>A	ENST00000304374.2	+	1	681	c.285G>A	c.(283-285)atG>atA	p.M95I		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	95					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	TGCTGGTCATGCCCTGGAAGG	0.637000													5	233					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95746544	95746544	+	Silent	SNP	G	G	A	rs145132329		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:95746544G>A	ENST00000311106.3	-	8	1266	c.1029C>T	c.(1027-1029)taC>taT	p.Y343Y	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.Y296Y	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	343	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.Y343Y(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTTCTCAGCGTACCAGGGGG	0.527000													6	616					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129802516	129802516	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:129802516G>A	ENST00000421865.2	+	55	7730	c.7681G>A	c.(7681-7683)Ggc>Agc	p.G2561S	RP1-69D17.3_ENST00000442449.1_RNA	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2561	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATGAGTCCGGCATCATTCT	0.488000													75	321					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5781711	5781711	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:5781711C>T	ENST00000328090.5	+	13	2203	c.1578C>T	c.(1576-1578)atC>atT	p.I526I	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	526																	AAAACTCCATCGTCAACTATG	0.418000													11	389					0	0	1	0	0
AQP9	366	broad.mit.edu	37	15	58465314	58465314	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:58465314C>T	ENST00000219919.4	+	3	656	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.R31W|AQP9_ENST00000536493.1_Missense_Mutation_p.R96W	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	96					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		TCTCTTTGGACGGATGAAATG	0.468000													11	641					0	0	1	0	0
NMRAL1	57407	broad.mit.edu	37	16	4516232	4516232	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:4516232G>A	ENST00000574733.1	-	4	1180	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	NMRAL1_ENST00000574425.1_Missense_Mutation_p.R151W|NMRAL1_ENST00000283429.6_Missense_Mutation_p.R151W|NMRAL1_ENST00000404295.3_Missense_Mutation_p.R151W|NMRAL1_ENST00000572391.1_5'UTR			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	151						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CAGGGCAGCCGCACACTGGTC	0.572000													5	234					0	0	1	0	0
HSPB7	27129	broad.mit.edu	37	1	16343648	16343648	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:16343648G>A	ENST00000311890.9	-	2	1080	c.254C>T	c.(253-255)gCg>gTg	p.A85V	HSPB7_ENST00000411503.1_Missense_Mutation_p.A85V|HSPB7_ENST00000406363.2_Missense_Mutation_p.A89V|HSPB7_ENST00000375718.4_Missense_Mutation_p.A160V|HSPB7_ENST00000487046.1_Missense_Mutation_p.A90V	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	85					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CACGTCCACCGCAAACTCATA	0.607000													5	608					0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997803	40997803	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:40997803G>A	ENST00000253799.3	+	1	1187	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	AOC2_ENST00000452774.2_Missense_Mutation_p.R387H	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	387					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTCGGCCGTAACAGCCGA	0.542000													5	367					0	0	1	0	0
GPRC5C	0	broad.mit.edu	37	17	72436919	72436919	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:72436919G>A	ENST00000392627.1	+	2	2265	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	GPRC5C_ENST00000392629.2_Missense_Mutation_p.S347N|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.S20N	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	335						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AAGGGTCAGAGCATGTTCGTG	0.577000													6	208					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41794801	41794801	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:41794801C>T	ENST00000396930.3	-	17	3868	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	KAT6A_ENST00000406337.1_Missense_Mutation_p.E1109K|KAT6A_ENST00000265713.2_Missense_Mutation_p.E1109K	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1109					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										TCTTCATCTTCTTCTTCATCT	0.403000													33	165					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477425	42477425	+	Missense_Mutation	SNP	G	G	A	rs148452781		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:42477425G>A	ENST00000434000.1	-	9	2068	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	GPATCH8_ENST00000591680.1_Missense_Mutation_p.R674W			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	674						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTTTTGTGCCGGTGGGACTTC	0.502000													5	432					0	0	1	0	0
SNHG14	0	broad.mit.edu	37	15	25310192	25310192	+	RNA	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:25310192C>A	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							ATGAGTCCTCCAAAAAAAACA	0.478000													5	423					0.00116845	0.0011952	1	1	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			11	73					4.36969e-10	4.7995e-10	1	1	0
GGT3P	0	broad.mit.edu	37	22	18778601	18778601	+	RNA	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:18778601C>T	ENST00000412448.1	-	0	804																											GCTTGGCATCCGCGGCCACGG	0.627000													12	21					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82408793	82408793	+	Missense_Mutation	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:82408793A>G	ENST00000370728.1	+	8	1183	c.538A>G	c.(538-540)Acc>Gcc	p.T180A	LPHN2_ENST00000370725.1_Missense_Mutation_p.T180A|LPHN2_ENST00000359929.3_Missense_Mutation_p.T180A|LPHN2_ENST00000370730.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370723.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370727.1_Missense_Mutation_p.T180A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T180A|LPHN2_ENST00000370715.1_Missense_Mutation_p.T180A|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.T180A|LPHN2_ENST00000271029.4_Missense_Mutation_p.T180A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T184A|LPHN2_ENST00000370713.1_Missense_Mutation_p.T180A|LPHN2_ENST00000335786.5_Missense_Mutation_p.T180A|LPHN2_ENST00000319517.6_Missense_Mutation_p.T180A			O95490	LPHN2_HUMAN	latrophilin 2	180	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TCCCTATCGTACCGATACTTT	0.393000													50	175					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1																						CAGATCAAGAAAGCACTCTGA	0.498000													5	374					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49667525	49667525	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:49667525C>T	ENST00000339139.4	-	6	499	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	88						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			actggttttgcggtcctctgG	0.338000													4	130					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568354	7568354	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:7568354C>T	ENST00000340209.4	+	2	545	c.248C>T	c.(247-249)gCg>gTg	p.A83V	RBFOX1_ENST00000553186.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A121V|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A114V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A114V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A98V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A98V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A121V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A78V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A98V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A78V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	78					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGAGCCCGGCGGACACGAGC	0.652000													137	508					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	rs147859349		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				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)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468000													8	777					0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139266361	139266361	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr9:139266361C>T	ENST00000371732.5	-	2	335	c.170G>A	c.(169-171)cGc>cAc	p.R57H	CARD9_ENST00000315908.7_Missense_Mutation_p.R57H|CARD9_ENST00000371734.3_Missense_Mutation_p.R57H	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	57	CARD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TTTCCGTTTGCGGATGACCAG	0.637000													6	968					0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6650735	6650735	+	Missense_Mutation	SNP	C	C	T	rs144197395		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:6650735C>T	ENST00000436152.2	-	10	1167	c.608G>A	c.(607-609)cGc>cAc	p.R203H	IFFO1_ENST00000336604.4_Missense_Mutation_p.R509H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R510H|IFFO1_ENST00000396840.2_Missense_Mutation_p.R506H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R202H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	506						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GTCCAGGCCGCGCTTCATGCT	0.662000													66	318					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550904	8550904	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:8550904G>A	ENST00000348943.3	+	15	1707	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R531H	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	531	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGCATGGAGCGCATGGTGCCC	0.687000													5	412					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494005	55494005	+	Silent	SNP	G	G	A	rs61735080	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:55494005G>A	ENST00000543010.1	+	6	1082	c.939G>A	c.(937-939)ccG>ccA	p.P313P	NLRP2_ENST00000263437.6_Silent_p.P310P|NLRP2_ENST00000339757.7_Silent_p.P291P|NLRP2_ENST00000391721.4_Silent_p.P289P|NLRP2_ENST00000537859.1_Silent_p.P291P|NLRP2_ENST00000538819.1_Silent_p.P289P|NLRP2_ENST00000448584.2_Silent_p.P313P|NLRP2_ENST00000427260.2_Silent_p.P290P	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	313	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAAGAAGCCGGTGCCCGTCC	0.632000													54	202					0	0	1	0	0
GPR153	387509	broad.mit.edu	37	1	6313858	6313858	+	Missense_Mutation	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:6313858C>T	ENST00000377893.2	-	3	965	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	236						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GAGGTTTTGGCGGGCTCCGAG	0.677000													5	208					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207564891	207564891	+	Missense_Mutation	SNP	G	G	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:207564891G>A	ENST00000452335.2	-	6	649	c.533C>T	c.(532-534)gCc>gTc	p.A178V	DYTN_ENST00000477734.1_5'UTR	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	178						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		GCTGCGGGTGGCACTTTCCAC	0.498000													5	315					0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160201178	160201178	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:160201178C>A	ENST00000368073.3	-	7	1413	c.979G>T	c.(979-981)Gag>Tag	p.E327*	DCAF8_ENST00000326837.2_Nonsense_Mutation_p.E327*|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000556710.1_Nonsense_Mutation_p.E481*|DCAF8_ENST00000368074.1_Nonsense_Mutation_p.E327*			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	327						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTCTCTTTCTCTTTTGTCACC	0.433000													5	428					0.0215528	0.0217148	1	1	0
CD1D	912	broad.mit.edu	37	1	158152778	158152778	+	Missense_Mutation	SNP	C	C	T	rs139209490	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:158152778C>T	ENST00000368171.3	+	5	1217	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	240	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGTGGATGCGGGGTGAGCA	0.632000													6	565					0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78180334	78180334	+	Missense_Mutation	SNP	T	T	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:78180334T>G	ENST00000281038.5	-	10	1360	c.985A>C	c.(985-987)Atc>Ctc	p.I329L	NARS2_ENST00000528850.1_Missense_Mutation_p.I102L	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	329					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	TGCTTTAAGATCTCCACTGCT	0.378000													29	144					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403000													7	650					0	0	1	0	0
CCT6P3	0	broad.mit.edu	37	7	64498737	64498737	+	RNA	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr7:64498737C>A	ENST00000426828.1	+	0	0					NR_033416.1																						gaggcggtggcggcggcggca	0.786000													4	62					0.00198382	0.00201388	1	1	0
FCRLB	127943	broad.mit.edu	37	1	161696656	161696656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:161696656C>A	ENST00000367946.3	+	5	607	c.593C>A	c.(592-594)tCg>tAg	p.S198*	FCRLB_ENST00000392158.1_Missense_Mutation_p.F246L|FCRLB_ENST00000367944.3_Silent_p.R205R|FCRLB_ENST00000367945.1_Nonsense_Mutation_p.S191*|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367948.2_Missense_Mutation_p.F246L|FCRLB_ENST00000336830.5_Silent_p.R212R			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	309						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			TGCGCCGCTTCGACTGGGGCG	0.687000													11	48					0.000673444	0.000694165	1	1	0
SNHG14	0	broad.mit.edu	37	15	25310190	25310190	+	RNA	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:25310190T>C	ENST00000549804.2	+	0	538				SNHG14_ENST00000551077.1_RNA|SNORD116-6_ENST00000384711.1_RNA																							TGATGAGTCCTCCAAAAAAAA	0.483000													5	417					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879450	27879450	+	Silent	SNP	T	T	G	rs147063988	by1000genomes	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:27879450T>G	ENST00000303324.2	-	1	724	c.648A>C	c.(646-648)atA>atC	p.I216I		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I216I(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AAGCATACGATATAAGGATGA	0.443000													7	275					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													6	171					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94502769	94502769	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:94502769C>A	ENST00000370225.3	-	25	3831	c.3745G>T	c.(3745-3747)Gag>Tag	p.E1249*		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1249					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTCCAGCTCTCTGAAAAGG	0.473000													8	355					3.09899e-07	3.32211e-07	1	1	0
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:71346978T>C	ENST00000413702.1	+	4	805	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.					extracellular region	protein binding	p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522000													11	623					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7811329	7811329	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:7811329delA	ENST00000303635.7	+	20	4967	c.4760delA	c.(4759-4761)cafs	p.Q1587fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.Q1573fs|CAMTA1_ENST00000476864.1_Frame_Shift_Del_p.Q151fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1587	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TACTATGAACAAAAAAAATTC	0.473			T	WWTR1	epitheliod hemangioendothelioma								7	883	---	---	---	---					
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431													8	318	---	---	---	---					
ZBTB8A	653121	broad.mit.edu	37	1	33065979	33065981	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:33065979_33065981delGAA	ENST00000373510.4	+	5	1514_1516	c.1285_1287delGAA	c.(1285-1287)del	p.E433del	ZBTB8OS_ENST00000341885.5_Intron|ZBTB8A_ENST00000316459.4_3'UTR|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	433	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TGATGATAGTGAAGAAGAAGAAG	0.414													7	279	---	---	---	---					
RIT1	6016	broad.mit.edu	37	1	155870237	155870237	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:155870237delT	ENST00000368323.3	-	6	806	c.602delA	c.(601-603)acfs	p.N201fs	RIT1_ENST00000461050.1_5'UTR|RIT1_ENST00000368322.3_Frame_Shift_Del_p.N218fs|RIT1_ENST00000539040.1_Frame_Shift_Del_p.N165fs	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	201					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			CCATACACTGTTTTTGGGCTT	0.413													7	1430	---	---	---	---					
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:200842776_200842778delTGC	ENST00000304244.2	+	1	694_696	c.611_613delTGC	c.(610-615)ttg>t	p.LL208del		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	208	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													11	175	---	---	---	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)cafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													7	335	---	---	---	---					
RAB11FIP5	26056	broad.mit.edu	37	2	73315337	73315339	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:73315337_73315339delTGG	ENST00000258098.6	-	3	1647_1649	c.1407_1409delCCA	c.(1405-1410)caa>ca	p.HQ469del	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	469					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635													7	757	---	---	---	---					
DNAH7	56171	broad.mit.edu	37	2	196788374	196788374	+	Frame_Shift_Del	DEL	T	T	-	rs140194798		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:196788374delT	ENST00000312428.6	-	23	3870	c.3770delA	c.(3769-3771)atfs	p.N1257fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1257	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCGCTAATATTTTTTTTTAC	0.418													8	234	---	---	---	---					
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)tfs	p.H565fs	ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000450567.1_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	811							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411													11	63	---	---	---	---					
SLC4A3	6508	broad.mit.edu	37	2	220496799	220496801	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr2:220496799_220496801delGAA	ENST00000358055.3	+	7	1433_1435	c.921_923delGAA	c.(919-924)agg>ag	p.RK307del	SLC4A3_ENST00000317151.3_In_Frame_Del_p.RK307del|SLC4A3_ENST00000373760.2_In_Frame_Del_p.RK307del|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373762.3_In_Frame_Del_p.RK334del|SLC4A3_ENST00000273063.6_In_Frame_Del_p.RK334del			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	307					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCGCAGGAAGAAGAAGAAG	0.650													8	336	---	---	---	---					
SLC6A6	6533	broad.mit.edu	37	3	14513784	14513785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:14513784_14513785insT	ENST00000454876.2	+	10	1497_1498	c.1168_1169insT	c.(1168-1170)tttfs	p.F390fs	SLC6A6_ENST00000360861.3_Frame_Shift_Ins_p.F390fs			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	390					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TTGGTCCATTCTTTTTTTTATT	0.530													8	353	---	---	---	---					
VEPH1	79674	broad.mit.edu	37	3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)actfs	p.T554fs	VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396													10	479	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388838	1388839	+	Frame_Shift_Del	DEL	CA	CA	-	rs71299249		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:1388838_1388839delCA	ENST00000324803.4	+	1	3499_3500	c.539_540delCA	c.(538-540)tfs	p.S180fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	180					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCAA	0.673													7	1841	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1389054	1389055	+	Frame_Shift_Ins	INS	-	-	CA	rs71299249		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr4:1389054_1389055insCA	ENST00000324803.4	+	1	3715_3716	c.755_756insCA	c.(754-756)cacfs	p.H252fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	252					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.C254fs*176(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACGTGCCGAT	0.693													10	1356	---	---	---	---					
CEP72	55722	broad.mit.edu	37	5	640649	640651	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:640649_640651delAGC	ENST00000264935.5	+	9	1559_1561	c.1469_1471delAGC	c.(1468-1473)gag>g	p.EQ490del	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	490					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGCCTTGCTGAGCAGCAGCAGCA	0.621													8	255	---	---	---	---					
PCDHB4	0	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(904-909)ttaaaafs	p.LK302fs		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		302	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366													10	505	---	---	---	---					
HLA-DRB1	3123	broad.mit.edu	37	6	32549374	32549393	+	Frame_Shift_Del	DEL	CACTTGGCAGGTGTAAACCT	CACTTGGCAGGTGTAAACCT	-	rs34938122		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:32549374_32549393delCACTTGGCAGGTGTAAACCT	ENST00000360004.5	-	3	698_717	c.593_612delAGGTTTACACCTGCCAAGTG	c.(592-612)gfs	p.EVYTCQV198fs		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						TTGGGTGCTCCACTTGGCAGGTGTAAACCTCTCCACTTCG	0.536										Multiple Myeloma(14;0.17)			14	1035	---	---	---	---					
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aaafs	p.K163fs		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	163					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421													7	669	---	---	---	---					
GRM1	2911	broad.mit.edu	37	6	146350671	146350672	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr6:146350671_146350672insT	ENST00000392299.2	+	2	488_489	c.18_19insT	c.(16-21)ttttttfs	p.FF6fs	GRM1_ENST00000492807.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000361719.2_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000355289.4_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000507907.1_Frame_Shift_Ins_p.FF6fs|GRM1_ENST00000282753.1_Frame_Shift_Ins_p.FF6fs			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	6					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTCCTTTTGTTTTTTTTCCC	0.644													7	884	---	---	---	---					
PBK	55872	broad.mit.edu	37	8	27690580	27690581	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:27690580_27690581insT	ENST00000301905.4	-	2	513_514	c.50_51insA	c.(49-51)aaafs	p.K17fs	PBK_ENST00000522944.1_Frame_Shift_Ins_p.K17fs	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	17					mitosis		ATP binding|protein binding|protein serine/threonine kinase activity	p.K17K(2)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TACCAGATTTCTTTTTTTCTGA	0.322													15	65	---	---	---	---					
WRN	7486	broad.mit.edu	37	8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaa>a	p.KE506del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	506					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.360			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				7	259	---	---	---	---					
TBC1D31	93594	broad.mit.edu	37	8	124140520	124140521	+	Splice_Site	INS	-	-	T			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:124140520_124140521insT	ENST00000287380.1	+	14	1974_1975		c.e14-1		TBC1D31_ENST00000309336.3_Splice_Site|TBC1D31_ENST00000521676.1_Splice_Site|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000522420.1_Splice_Site|TBC1D31_ENST00000378080.2_Splice_Site|TBC1D31_ENST00000327098.5_Splice_Site	NM_145647.3	NP_663622.2			TBC1 domain family, member 31																		TTTTCTTACAGTTTTTTTTTCA	0.322													7	206	---	---	---	---					
ZC3H3	23144	broad.mit.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr8:144522387_144522389delGAG	ENST00000262577.5	-	11	2668_2670	c.2637_2639delCTC	c.(2635-2640)tca>tc	p.SS879del		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655													8	78	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50732139	50732141	+	In_Frame_Del	DEL	CCT	CCT	-	rs4253047	byFrequency	TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:50732139_50732141delCCT	ENST00000355832.5	-	5	1413_1415	c.1335_1337delAGG	c.(1333-1338)ggt>gg	p.GG445del	PGBD3_ENST00000603152.1_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000515869.1_In_Frame_Del_p.GG445del|ERCC6-PGBD3_ENST00000447839.2_In_Frame_Del_p.GG445del|PGBD3_ENST00000374127.3_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	445	Gly-rich.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CACTTTCCGACCTCCTCCTCCTC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					7	520	---	---	---	---					
POLL	27343	broad.mit.edu	37	10	103345131	103345133	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr10:103345131_103345133delGGA	ENST00000370162.3	-	4	1007_1009	c.513_515delTCC	c.(511-516)ccc>cc	p.PP171del	POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron|POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|POLL_ENST00000339310.3_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	171					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCCTGGTGGGAGGAGGAGGAG	0.591								DNA polymerases (catalytic subunits)					8	332	---	---	---	---					
CTD-2313N18.8	0	broad.mit.edu	37	11	71574635	71574635	+	RNA	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:71574635delA	ENST00000528518.1	+	0	168																											GTAATGAAGGAAAAAAATGTA	0.428													7	601	---	---	---	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)aaafs	p.K223fs	CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					14	454	---	---	---	---					
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:6711207_6711209delCTT	ENST00000309577.6	-	4	518_520	c.355_357delAAG	c.(355-357)del	p.K119del	CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537													9	187	---	---	---	---					
CUX2	23316	broad.mit.edu	37	12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)del	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749													7	295	---	---	---	---					
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gtt>g	p.DV59del	ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379													8	235	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25525716	25525716	+	RNA	DEL	A	A	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr13:25525716delA	ENST00000429698.1	-	0	282																											TGGAAGAAACAAAAAAAAGAA	0.383													6	6	---	---	---	---					
ZNF219	0	broad.mit.edu	37	14	21560753	21560758	+	In_Frame_Del	DEL	GAGGCT	GAGGCT	-	rs71794845		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:21560753_21560758delGAGGCT	ENST00000360947.3	-	3	1109_1114	c.698_703delAGCCTC	c.(697-705)cca>c	p.QPP233del	ZNF219_ENST00000451119.2_In_Frame_Del_p.QPP233del|ZNF219_ENST00000421093.2_In_Frame_Del_p.QPP233del	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	233				Missing (in Ref. 3; AAH00694).	negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q233_P234delQP(3)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ggctggggtggaggctgaggctgagg	0.743											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	8	---	---	---	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:23528502_23528503delTC	ENST00000262710.1	-	19	4207_4208	c.3880_3881delGA	c.(3880-3882)afs	p.E1294fs	ACIN1_ENST00000605057.1_Frame_Shift_Del_p.E1236fs|ACIN1_ENST00000457657.1_Frame_Shift_Del_p.E1254fs|ACIN1_ENST00000397341.3_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000357481.2_Frame_Shift_Del_p.E536fs|ACIN1_ENST00000338631.6_Frame_Shift_Del_p.E567fs|ACIN1_ENST00000557515.1_Frame_Shift_Del_p.E535fs|ACIN1_ENST00000555053.1_Frame_Shift_Del_p.E1281fs	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	268	---	---	---	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tca>tc	p.SS360del	FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													7	189	---	---	---	---					
TNFAIP2	7127	broad.mit.edu	37	14	103599784	103599786	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:103599784_103599786delAGC	ENST00000560869.1	+	10	2270_2272	c.1631_1633delAGC	c.(1630-1635)gag>g	p.EQ544del	TNFAIP2_ENST00000538222.1_In_Frame_Del_p.EQ27del|TNFAIP2_ENST00000451723.2_In_Frame_Del_p.EQ213del|TNFAIP2_ENST00000333007.1_In_Frame_Del_p.EQ544del			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	544					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AAGACGGCCGAGCAGCAGCAGCA	0.626													7	311	---	---	---	---					
IGHV3-23	0	broad.mit.edu	37	14	106725714	106725715	+	RNA	INS	-	-	G			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr14:106725714_106725715insG	ENST00000390609.2	-	0	18_19																											ATCCCAGGGCTGGGCTCCTCTC	0.500													8	265	---	---	---	---					
APBA2	321	broad.mit.edu	37	15	29346361	29346363	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:29346361_29346363delGAG	ENST00000558402.1	+	5	873_875	c.274_276delGAG	c.(274-276)del	p.E95del	APBA2_ENST00000561069.1_In_Frame_Del_p.E95del|APBA2_ENST00000558330.1_In_Frame_Del_p.E95del|APBA2_ENST00000558259.1_In_Frame_Del_p.E95del|APBA2_ENST00000411764.1_In_Frame_Del_p.E95del			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	95	Poly-Glu.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGCCTCCCTGAGGAGGAGGAGG	0.601													7	708	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102293062	102293064	+	RNA	DEL	CTC	CTC	-	rs4965539		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr15:102293062_102293064delCTC	ENST00000561463.1	+	0	1108_1110																											AGTTCATCTTCTCAGAGCTGCTG	0.576													7	30	---	---	---	---					
TMC7	79905	broad.mit.edu	37	16	19058506	19058506	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:19058506delT	ENST00000421369.3	+	12	1903	c.1345delT	c.(1345-1347)ttfs	p.F450fs	TMC7_ENST00000304381.5_Frame_Shift_Del_p.F560fs|TMC7_ENST00000569532.1_Frame_Shift_Del_p.F560fs	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	560						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATCGGAGCCTTTTTCTCACC	0.502													7	1369	---	---	---	---					
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)del	p.E708del		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571													10	211	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:7579716delG	ENST00000420246.2	-	3	212	c.80delC	c.(79-81)ctfs	p.P27fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	27	Interaction with HRMT1L2.|Transcription activation (acidic).				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTGTTTTCAGGAAGTCTGAA	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			29	173	---	---	---	---					
CBX4	8535	broad.mit.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	GTG	-	rs3833850		TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr17:77808241_77808243delGTG	ENST00000269397.4	-	5	1375_1377	c.1198_1200delCAC	c.(1198-1200)del	p.H400del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704													7	78	---	---	---	---					
ZNF337	26152	broad.mit.edu	37	20	25657231	25657232	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr20:25657231_25657232delTG	ENST00000376436.1	-	4	1231_1232	c.692_693delCA	c.(691-693)afs	p.T231fs	RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|ZNF337_ENST00000252979.5_Frame_Shift_Del_p.T231fs|ZNF337_ENST00000538750.1_Frame_Shift_Del_p.T199fs|RP4-694B14.5_ENST00000455791.1_RNA					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACTTCTCTCCTGTGTGTGTGTT	0.510													8	310	---	---	---	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)ttfs	p.F173fs	IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs|IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													8	955	---	---	---	---					
PICK1	9463	broad.mit.edu	37	22	38471034	38471036	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chr22:38471034_38471036delGGA	ENST00000404072.3	+	13	1490_1492	c.1143_1145delGGA	c.(1141-1146)ggg>gg	p.GE381del	PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	381					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TCACAGATGGggaggaggaggag	0.635													7	175	---	---	---	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-H8-A6C1-01A-11D-A32N-08	TCGA-H8-A6C1-10A-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef3533bc-46bc-4c01-accb-f698a0786215	c8a064a9-fade-43e6-983f-f1d012158ca0	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctg>ct	p.LQ596del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	596	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													7	230	---	---	---	---					
