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
SGSM2	9905	broad.mit.edu	37	17	2282481	2282481	+	Silent	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:2282481C>A	ENST00000268989.3	+	23	3228	c.3051C>A	c.(3049-3051)atC>atA	p.I1017I	RP1-59D14.5_ENST00000574290.1_RNA|SGSM2_ENST00000426855.2_Silent_p.I972I|SGSM2_ENST00000574563.1_Silent_p.I972I	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	972						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCACTGACATCATCAAGTTTT	0.582000													26	71					7.26314e-15	7.8328e-15	1	1	0
SLC7A2	6542	broad.mit.edu	37	8	17409358	17409358	+	Silent	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:17409358C>A	ENST00000470360.1	+	8	1155	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	SLC7A2_ENST00000004531.10_Silent_p.V346V|SLC7A2_ENST00000494857.1_Silent_p.V306V|SLC7A2_ENST00000398090.3_Silent_p.V346V|SLC7A2_ENST00000522656.1_Silent_p.V306V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	306					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATTTTGGGGTCTCTGCAGCTT	0.438000													39	86					8.16277e-20	9.55218e-20	1	1	0
CYP11B1	0	broad.mit.edu	37	8	143956706	143956706	+	Silent	SNP	G	G	A	rs138706121		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:143956706G>A	ENST00000292427.4	-	7	1176	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	CYP11B1_ENST00000377675.3_Silent_p.L453L|CYP11B1_ENST00000517471.1_Silent_p.L382L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	382					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.L382L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	ACTCGCTCCAGAAACAGACCC	0.607000									Familial Hyperaldosteronism type I				6	64					0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28510981	28510981	+	Silent	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:28510981G>A	ENST00000356897.1	-	5	745	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	241					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ATCAGGGCTGGGGGCTCAATG	0.607000													3	23					0	0	1	0	0
RNF186	54546	broad.mit.edu	37	1	20141126	20141126	+	Missense_Mutation	SNP	C	C	T	rs41264109		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:20141126C>T	ENST00000375121.2	-	1	645	c.469G>A	c.(469-471)Gcg>Acg	p.A157T	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	157						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAGGTGCGCGGCCAGGCGC	0.612000													5	200					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119132892	119132892	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:119132892T>G	ENST00000264245.4	+	12	2648	c.2116T>G	c.(2116-2118)Tcc>Gcc	p.S706A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	706	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCTTGTGGCTCCTTCCCTGC	0.602000													49	149					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63672397	63672397	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr11:63672397C>T	ENST00000402010.2	+	16	2395	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	MARK2_ENST00000425897.2_Missense_Mutation_p.R526W|MARK2_ENST00000513765.2_Missense_Mutation_p.R573W|MARK2_ENST00000509502.2_Missense_Mutation_p.R572W|MARK2_ENST00000408948.3_Missense_Mutation_p.R518W|MARK2_ENST00000377809.4_Missense_Mutation_p.R606W|MARK2_ENST00000508192.1_Missense_Mutation_p.R551W|MARK2_ENST00000413835.2_Missense_Mutation_p.R552W|MARK2_ENST00000350490.7_Missense_Mutation_p.R551W|MARK2_ENST00000315032.8_Missense_Mutation_p.R606W|MARK2_ENST00000377810.3_Missense_Mutation_p.R518W|MARK2_ENST00000361128.5_Missense_Mutation_p.R552W|MARK2_ENST00000502399.3_Missense_Mutation_p.R605W	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	606					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGACAGGTGCGGGACCAGCA	0.647000													5	163					0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776021	144776021	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:144776021C>T	ENST00000532205.1	+	8	1336	c.437C>T	c.(436-438)aCg>aTg	p.T146M	ZNF707_ENST00000454097.1_Missense_Mutation_p.T146M|ZNF707_ENST00000532158.1_Missense_Mutation_p.T146M|ZNF707_ENST00000358656.4_Missense_Mutation_p.T146M|ZNF707_ENST00000418203.2_Missense_Mutation_p.T146M			Q96C28	ZN707_HUMAN	zinc finger protein 707	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAAGCCCACGGCTTTCCCG	0.647000													7	85					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42007295	42007295	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:42007295T>C	ENST00000395925.3	-	14	2414	c.2330A>G	c.(2329-2331)cAc>cGc	p.H777R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	777					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAGTTTTACGTGCTCCATCCA	0.498000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				85	247					0	0	1	0	0
IDS	3423	broad.mit.edu	37	X	148568542	148568542	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:148568542C>T	ENST00000340855.6	-	8	1303	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	AF011889.5_ENST00000422081.1_RNA|IDS_ENST00000537071.1_Intron|IDS_ENST00000541269.1_Missense_Mutation_p.G154E	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	365						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGCCGTCCTTCCAGGAACATA	0.473000													4	69					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257	by1000genomes	TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y						ankyrin repeat domain 36C									p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318000													7	64					2.0095e-06	2.08533e-06	1	1	0
SPAG8	26206	broad.mit.edu	37	9	35811217	35811217	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr9:35811217G>A	ENST00000340291.2	-	2	950	c.826C>T	c.(826-828)Ccg>Tcg	p.P276S	SPAG8_ENST00000396638.2_Missense_Mutation_p.P276S|SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Missense_Mutation_p.P274S	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	276						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCCCCGCGGCAAAGTTTCA	0.507000													6	363					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													4	21					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	rs149001132		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448000													5	306					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56393488	56393488	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:56393488T>C	ENST00000355701.3	-	16	2864	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.N605S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.N665S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	665	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAAAGGGGTTGTAGCTGTT	0.522000													6	71					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900225	151900225	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:151900225G>T	ENST00000393900.3	-	3	929	c.576C>A	c.(574-576)gaC>gaA	p.D192E	MAGEA12_ENST00000357916.4_Missense_Mutation_p.D192E|MAGEA12_ENST00000393869.3_Missense_Mutation_p.D192E|CSAG4_ENST00000361201.4_RNA	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	192	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGATCTGATTGTCGCCCAGCA	0.577000													15	225					1.37285e-15	1.51014e-15	1	1	0
NLGN3	54413	broad.mit.edu	37	X	70367670	70367670	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:70367670T>A	ENST00000374051.3	+	2	393	c.71T>A	c.(70-72)cTc>cAc	p.L24H	NLGN3_ENST00000536169.1_Missense_Mutation_p.L24H|NLGN3_ENST00000358741.3_Missense_Mutation_p.L24H	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	24					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGCCTGTGCCTCACCCTGTGG	0.662000													15	18					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105178375	105178375	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:105178375T>A	ENST00000428173.2	+	20	3744	c.3441T>A	c.(3439-3441)aaT>aaA	p.N1147K	NRK_ENST00000243300.9_Missense_Mutation_p.N1146K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1146							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTCTGCCAATCACTCATCTC	0.433000										HNSCC(51;0.14)			44	61					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628290	29628290	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr20:29628290G>A	ENST00000278882.3	+	6	672	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	FRG1B_ENST00000439954.2_Missense_Mutation_p.E103K|FRG1B_ENST00000358464.4_Missense_Mutation_p.E98K																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGGGGACATAGAAGCAAAAAG	0.373000													4	95					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								35	32					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													6	57					0	0	1	0	0
C16orf45	89927	broad.mit.edu	37	16	15661873	15661873	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:15661873G>A	ENST00000300006.4	+	3	623	c.264G>A	c.(262-264)atG>atA	p.M88I	C16orf45_ENST00000561692.1_Missense_Mutation_p.M40I|C16orf45_ENST00000452191.2_Missense_Mutation_p.M71I|C16orf45_ENST00000566490.1_Missense_Mutation_p.M88I	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	88										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AGGACATCATGGACTTGAAGC	0.557000													15	18					0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53269553	53269553	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr19:53269553C>T	ENST00000338230.3	-	3	1723	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A486S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTATGTTTTGCCAGATAGGAA	0.428000													4	182					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119014	161119014	+	Silent	SNP	A	A	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:161119014A>T	ENST00000523217.1	+	8	1106	c.864A>T	c.(862-864)tcA>tcT	p.S288S	GABRA6_ENST00000274545.5_Silent_p.S298S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	298					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAAAAGTGTCATATGCCACTG	0.408000										TCGA Ovarian(5;0.080)			8	97					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77617553	77617553	+	Silent	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:77617553C>T	ENST00000461745.1	+	13	2839	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ROBO2_ENST00000487694.3_Silent_p.L663L|ROBO2_ENST00000332191.8_Silent_p.L647L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	647	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCAGTTGTGCTGACTCCCAC	0.468000													34	67					0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75272416	75272416	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:75272416C>G	ENST00000220822.7	+	3	435	c.355C>G	c.(355-357)Cca>Gca	p.P119A	GDAP1_ENST00000434412.2_Missense_Mutation_p.P51A|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	119						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CATGTATTACCCACGGGTACA	0.403000													53	32					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													5	55					0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170303	90170303	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr4:90170303G>A	ENST00000333209.3	-	2	1477	c.959C>T	c.(958-960)gCg>gTg	p.A320V		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	320								p.A320V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTGCACCTCCGCATCTTGCCA	0.537000													5	113					0	0	1	0	0
PDLIM7	9260	broad.mit.edu	37	5	176918075	176918075	+	Silent	SNP	C	C	T	rs145886743		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:176918075C>T	ENST00000355841.2	-	6	537	c.471G>A	c.(469-471)ccG>ccA	p.P157P	PDLIM7_ENST00000359895.2_Silent_p.P123P|PDLIM7_ENST00000393551.1_Silent_p.P157P|PDLIM7_ENST00000356618.4_Silent_p.P157P|PDLIM7_ENST00000355572.2_Silent_p.P157P	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	157					cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCCGCGGCCGCCAGT	0.667000													9	16					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs28934573		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:7577559G>T	ENST00000420246.2	-	7	854	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCCATGCAGGAACTGTTACA	0.572000		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)			31	43					6.00712e-18	6.88316e-18	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357417	118357417	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr10:118357417G>T	ENST00000528052.1	+	7	723	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.D218Y|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.D218Y			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	218					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGACTTTGTTGATGTGATTCA	0.483000													24	64					1.64293e-13	1.73772e-13	1	1	0
TTR	7276	broad.mit.edu	37	18	29172888	29172888	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr18:29172888G>A	ENST00000237014.3	+	2	276	c.99G>A	c.(97-99)atG>atA	p.M33I		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	33			M -> I.		transport	cytoplasm	hormone activity			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCCTCTGATGGTCAAAGTTC	0.483000													7	73					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939882	22939882	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr19:22939882G>A	ENST00000397104.3	-	6	2448	c.2449C>T	c.(2449-2451)Ctt>Ttt	p.L817F						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTCTTAAGGGTTGAGGAA	0.383000													4	80					0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90455299	90455299	+	Silent	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr14:90455299C>T	ENST00000335725.4	+	11	1432	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	TDP1_ENST00000555880.1_Silent_p.V394V|TDP1_ENST00000393454.2_Silent_p.V394V|TDP1_ENST00000357382.3_Silent_p.V155V|TDP1_ENST00000393452.3_Silent_p.V394V	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	394					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCTGGCCTGTCGTAGGTCAGT	0.448000								Repair of DNA-protein crosslinks					4	50					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19752464	19752464	+	Silent	SNP	C	C	T	rs142499533		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr13:19752464C>T	ENST00000400113.3	-	3	401	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	99					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AATTATTGGCCGCATCTTCCT	0.522000													9	115					0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100276231	100276231	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:100276231C>A	ENST00000303210.4	+	9	1392	c.910C>A	c.(910-912)Cgt>Agt	p.R304S	GNB2_ENST00000419828.1_Missense_Mutation_p.R204S|GNB2_ENST00000436220.1_Missense_Mutation_p.R260S|GNB2_ENST00000393924.1_Missense_Mutation_p.R304S|GNB2_ENST00000393926.1_Missense_Mutation_p.R304S|GNB2_ENST00000427895.1_Missense_Mutation_p.R204S|GNB2_ENST00000424361.1_Missense_Mutation_p.R260S	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	304					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GAAGGGCGACCGTGCAGGTGA	0.632000													5	135					1	1	1	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204425080	204425080	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:204425080C>T	ENST00000367187.3	-	12	2403	c.1847G>A	c.(1846-1848)cGc>cAc	p.R616H	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	616					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTCATGCTTGCGGCTCCCGGG	0.612000													4	104					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229683292	229683292	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:229683292T>C	ENST00000344517.4	-	3	917	c.875A>G	c.(874-876)gAt>gGt	p.D292G		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	292	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCTGAGCCCATCTGAGAGGTT	0.567000													27	58					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12291381	12291381	+	Missense_Mutation	SNP	T	T	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr12:12291381T>A	ENST00000261349.4	-	16	3561	c.3485A>T	c.(3484-3486)aAa>aTa	p.K1162I	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.K1162I	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1162	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTGCTGCTGTTTATCAATCCA	0.423000													73	135					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823	by1000genomes	TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N						ankyrin repeat domain 36C									p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318000													7	58					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2014319	2014319	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:2014319G>C	ENST00000343262.4	-	3	281	c.225C>G	c.(223-225)atC>atG	p.I75M	RPS2_ENST00000526522.1_Missense_Mutation_p.I75M|RPS2_ENST00000530225.1_Missense_Mutation_p.I75M|RPS2_ENST00000529806.1_Intron	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	75					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CCAGGGACTTGATCTTCATGT	0.602000													26	55					0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009087	46009087	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:46009087C>T	ENST00000296137.2	-	8	1944	c.1739G>A	c.(1738-1740)aGt>aAt	p.S580N	FYCO1_ENST00000535325.1_Missense_Mutation_p.S580N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	580					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCTTGCAGACTGGAGTTCAC	0.632000													6	165					0	0	1	0	0
KRTAP9-9	81870	broad.mit.edu	37	17	39411940	39411940	+	Silent	SNP	C	C	T			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:39411940C>T	ENST00000394008.1	+	1	305	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	101						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGCCAGAGCAGCT	0.617000													5	178					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:72663998T>G	ENST00000425256.1	-	0	902					NR_002164.1																						ATAGCCGGGGTCCTTGAATAC	0.488000													4	119					0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114510515	114510515	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:114510515C>A	ENST00000369558.1	+	12	2741	c.2509C>A	c.(2509-2511)Caa>Aaa	p.Q837K	HIPK1_ENST00000340480.4_Missense_Mutation_p.Q463K|HIPK1_ENST00000369553.1_Missense_Mutation_p.Q443K|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q792K|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q837K|HIPK1_ENST00000406344.1_Missense_Mutation_p.Q443K|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q837K|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q803K|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q792K			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGACAACAACAATCCAGTTC	0.478000													18	56					4.63292e-17	5.20022e-17	1	1	0
EMILIN2	84034	broad.mit.edu	37	18	2891077	2891077	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr18:2891077G>A	ENST00000254528.3	+	4	1111	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	318					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAAGCCTATGTGGACAGTAA	0.547000													96	100					0	0	1	0	0
MAPK8	5599	broad.mit.edu	37	10	49618135	49618135	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr10:49618135A>G	ENST00000374189.1	+	5	555	c.374A>G	c.(373-375)cAt>cGt	p.H125R	MAPK8_ENST00000374182.3_Missense_Mutation_p.H125R|MAPK8_ENST00000360332.3_Missense_Mutation_p.H125R|MAPK8_ENST00000374174.1_Missense_Mutation_p.H125R|MAPK8_ENST00000395611.3_Missense_Mutation_p.H125R			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	125	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GAGCTAGATCATGAAAGAATG	0.398000													17	137					0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95724824	95724824	+	Missense_Mutation	SNP	G	G	C			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr11:95724824G>C	ENST00000524717.1	-	3	3487	c.2203C>G	c.(2203-2205)Cca>Gca	p.P735A		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	735					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAGTGTTTGGATTTGAGCAG	0.478000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid								5	96					0	0	1	0	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													3	3	---	---	---	---					
ZAN	7455	broad.mit.edu	37	7	100345610	100345611	+	RNA	INS	-	-	A	rs71686325		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:100345610_100345611insA	ENST00000542585.1	+	0	1171				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			gcaagactctgaaaaaaaaaaa	0.505													2	4	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			9	122	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579592	7579592	+	Splice_Site	DEL	T	T	-			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:7579592delT	ENST00000420246.2	-	4	229		c.e4-2		TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CAAGGGGGACTGTAGATGGGT	0.597		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)			170	212	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													3	5	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76944338	76944339	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:76944338_76944339delGT	ENST00000373344.5	-	7	780_781	c.566_567delAC	c.(565-567)cfs	p.H189fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.H151fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	189	ADD.		Missing (in ATRX).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCAATGAAGGGTGTCTATAAAT	0.391			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						31	90	---	---	---	---