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
VTA1	51534	broad.mit.edu	37	6	142468531	142468531	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:142468531A>G	ENST00000367630.4	+	1	165	c.107A>G	c.(106-108)tAt>tGt	p.Y36C	VTA1_ENST00000452973.2_Missense_Mutation_p.I10V|VTA1_ENST00000367621.1_Missense_Mutation_p.I10V	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	36	Interaction with CHMP5.|Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		GTGGTGGCTTATTACTGTGAG	0.607000											OREG0017699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	15					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102491	22102491	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:22102491G>A	ENST00000542433.1	-	1	605	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TAGGGCAGGCGGAAGGTCAAG	0.552000													8	71					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762403	24762403	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:24762403A>T	ENST00000376451.2	+	2	507	c.247A>T	c.(247-249)Agc>Tgc	p.S83C	KIAA1217_ENST00000307544.6_Missense_Mutation_p.S83C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S365C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S365C|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S285C|KIAA1217_ENST00000430453.2_Missense_Mutation_p.S286C|KIAA1217_ENST00000376454.3_Missense_Mutation_p.S365C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S83C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S83C			Q5T5P2	SKT_HUMAN	KIAA1217	365					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TCCAAGCCCAAGCGCCATTTT	0.502000													37	91					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81994065	81994065	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:81994065C>T	ENST00000336735.4	-	2	204	c.88G>A	c.(88-90)Gat>Aat	p.D30N	SEL1L_ENST00000555824.1_Missense_Mutation_p.D30N	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	30	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		AAGGATTCATCCTGGCTGCCT	0.308000													4	21					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25492314	25492314	+	RNA	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:25492314C>T	ENST00000453082.2	+	0	2775					NR_003343.1																						ATGGTGAGACCGGAGGAAGAC	0.582000													7	7					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149171709	149171709	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:149171709G>A	ENST00000340622.3	-	7	1981	c.1701C>T	c.(1699-1701)acC>acT	p.T567T	ZNF746_ENST00000458143.2_Silent_p.T568T			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	567					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGACGGTGCAGGTGAAGGGCC	0.672000													4	20					0	0	1	0	0
TIA1	7072	broad.mit.edu	37	2	70475554	70475554	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:70475554G>A	ENST00000433529.2	-	1	219	c.9C>T	c.(7-9)gaC>gaT	p.D3D	C2orf42_ENST00000470096.1_5'UTR|TIA1_ENST00000445587.1_Silent_p.D3D|TIA1_ENST00000416149.2_Silent_p.D3D|TIA1_ENST00000415783.2_Silent_p.D3D|TIA1_ENST00000282574.4_Silent_p.D3D	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	3					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TGGGCATCTCGTCCTCCATGG	0.642000													3	43					0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52943098	52943098	+	Silent	SNP	G	G	A	rs147275737		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:52943098G>A	ENST00000267119.5	-	3	765	c.696C>T	c.(694-696)aaC>aaT	p.N232N		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	232	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCACAAACTCGTTCTCTGCTG	0.567000													4	137					0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35310528	35310528	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:35310528G>A	ENST00000378495.3	+	9	1048	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	UNC13B_ENST00000378496.4_Missense_Mutation_p.E276K|UNC13B_ENST00000396787.1_Missense_Mutation_p.E288K	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	276					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGCTAAGTGAACTAGACCA	0.493000													11	100					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51569523	51569523	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:51569523G>A	ENST00000522124.1	+	14	1565	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	SNTG1_ENST00000276467.5_Missense_Mutation_p.V302M|SNTG1_ENST00000518864.1_Missense_Mutation_p.V302M|SNTG1_ENST00000517473.1_Missense_Mutation_p.V302M	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	302	PH.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CCAGGACAGAGTGTACTCCCC	0.468000													11	59					0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4125485	4125485	+	Splice_Site	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:4125485C>T	ENST00000465828.1	-	7	989	c.705_splice	c.e7+1	p.R235_splice	C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000430835.2_3'UTR|ECI2_ENST00000380125.2_Splice_Site_p.R235_splice|ECI2_ENST00000361538.2_Splice_Site_p.R235_splice|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000413766.2_Splice_Site_p.R98_splice|ECI2_ENST00000380118.3_Splice_Site_p.R265_splice			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	265	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CTGACTTACCCTGTCAGATGC	0.512000													32	57					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50051779	50051779	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:50051779C>T	ENST00000371564.3	-	8	2197	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	NFATC2_ENST00000396009.3_Missense_Mutation_p.V660I|NFATC2_ENST00000414705.1_Missense_Mutation_p.V640I	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	660					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCATTGATGACGTAGAAGTTC	0.428000													14	121					0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19076977	19076977	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr22:19076977C>T	ENST00000545799.1	-	2	306	c.106G>A	c.(106-108)Gcg>Acg	p.A36T	DGCR2_ENST00000263196.7_Missense_Mutation_p.A36T|DGCR2_ENST00000537045.1_Intron			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	36	LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTGCGACACGCAAACTGCCCA	0.622000													9	42					0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70368499	70368499	+	Splice_Site	SNP	T	T	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:70368499T>C	ENST00000558939.1	-	5	1612		c.e5-2		TLE3_ENST00000442299.2_Splice_Site|TLE3_ENST00000558201.1_Splice_Site|TLE3_ENST00000451782.2_Splice_Site|TLE3_ENST00000557907.1_Splice_Site|TLE3_ENST00000557997.1_Splice_Site|TLE3_ENST00000558379.1_Splice_Site|TLE3_ENST00000560939.1_Splice_Site|TLE3_ENST00000440567.3_Splice_Site|TLE3_ENST00000559048.1_Splice_Site|TLE3_ENST00000317509.8_Splice_Site|TLE3_ENST00000539550.1_Splice_Site|TLE3_ENST00000559929.1_Splice_Site|TLE3_ENST00000560589.1_Splice_Site|TLE3_ENST00000559191.1_Intron			Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)						organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATCTCTGTCTGCAAAGGCAA	0.433000													21	88					0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496575	24496575	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr18:24496575C>A	ENST00000284224.8	-	6	1257	c.980G>T	c.(979-981)gGa>gTa	p.G327V	AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.G327V	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	327					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GAACTTGACTCCAGATCCATT	0.413000													15	97					1.3612e-06	1.40658e-06	1	1	0
SPATA31A6	389730	broad.mit.edu	37	9	43627776	43627776	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:43627776C>T	ENST00000332857.6	-	4	939	c.911G>A	c.(910-912)cGc>cAc	p.R304H	SPATA31A6_ENST00000496386.1_5'UTR	NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TGGTGGGTGGCGGGAAAGAGG	0.547000													10	309					0	0	1	0	0
PRR4	11272	broad.mit.edu	37	12	10999783	10999783	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:10999783G>T	ENST00000228811.4	-	3	321	c.284C>A	c.(283-285)cCc>cAc	p.P95H	PRR4_ENST00000540107.1_Silent_p.T37T|PRR4_ENST00000544994.1_Intron|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	95	Pro-rich.				visual perception	extracellular space				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						TCCTCGTCGGGGTGGTCGTTG	0.547000													30	184					1.7881e-09	1.96216e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179629005	179629005	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:179629005T>A	ENST00000589042.1	-	43	10237	c.10013A>T	c.(10012-10014)cAg>cTg	p.Q3338L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q3338L|TTN_ENST00000460472.2_Missense_Mutation_p.Q3292L|TTN_ENST00000591111.1_Missense_Mutation_p.Q3338L|TTN_ENST00000342175.6_Missense_Mutation_p.Q3292L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q3338L|TTN_ENST00000359218.5_Missense_Mutation_p.Q3292L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3063							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCATTTCCTGATCAGGAGA	0.468000													8	17					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713390	46713390	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:46713390C>T	ENST00000318962.4	-	24	2751	c.2668G>A	c.(2668-2670)Gtg>Atg	p.V890M	ALS2CL_ENST00000415953.1_Missense_Mutation_p.V890M|ALS2CL_ENST00000383742.3_Missense_Mutation_p.V237M	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	890	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CGCGACACCACGTAGATGAGA	0.627000													12	42					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189582020	189582020	+	Splice_Site	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:189582020G>T	ENST00000264731.3	+	5	668		c.e5-1		TP63_ENST00000382063.4_Splice_Site|TP63_ENST00000437221.1_Splice_Site|TP63_ENST00000392463.2_Splice_Site|TP63_ENST00000354600.5_Splice_Site|TP63_ENST00000392461.3_Splice_Site|TP63_ENST00000449992.1_Splice_Site|TP63_ENST00000320472.5_Splice_Site|TP63_ENST00000440651.2_Splice_Site|TP63_ENST00000456148.1_Splice_Site|TP63_ENST00000392460.3_Splice_Site|TP63_ENST00000418709.2_Splice_Site	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACTCTAAGCAGTATTCCACTG	0.458000										HNSCC(45;0.13)			107	124					5.96743e-59	6.72692e-59	1	1	0
OR6T1	219874	broad.mit.edu	37	11	123813817	123813817	+	Silent	SNP	C	C	T	rs138335573		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:123813817C>T	ENST00000321252.2	-	1	763	c.729G>A	c.(727-729)tcG>tcA	p.S243S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGTAAGATGCGAGGCGCAAG	0.522000													24	61					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395835	154395835	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:154395835C>T	ENST00000435029.4	+	1	2576	c.2416C>T	c.(2416-2418)Cat>Tat	p.H806Y		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	806	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCTGAGGTGCATGGTCAAGT	0.443000													5	32					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69113049	69113049	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:69113049C>T	ENST00000465139.2	-	1	185	c.42G>A	c.(40-42)agG>agA	p.R14R	ANP32A_ENST00000560303.1_Silent_p.R14R|SPESP1_ENST00000560188.1_Intron	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	14					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						CAGAGGGCGTCCTGTTCCGCA	0.542000													10	33					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130284550	130284550	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:130284550C>T	ENST00000257359.6	-	5	2148	c.1442G>A	c.(1441-1443)gGg>gAg	p.G481E		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	481	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGGCTCAGCCCCATCAGTGTG	0.652000													4	109					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2154380	2154380	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:2154380C>T	ENST00000416167.2	-	4	1546	c.380G>A	c.(379-381)cGc>cAc	p.R127H	IGF2_ENST00000381389.1_Missense_Mutation_p.R127H|IGF2_ENST00000381392.1_Missense_Mutation_p.R130H|IGF2_ENST00000434045.2_Missense_Mutation_p.R183H|IGF2_ENST00000337883.6_Missense_Mutation_p.R127H|IGF2_ENST00000300632.5_Missense_Mutation_p.R127H|IGF2_ENST00000381406.4_Missense_Mutation_p.R130H|IGF2_ENST00000381395.1_Missense_Mutation_p.R127H|IGF2_ENST00000418738.2_Missense_Mutation_p.R127H			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	127					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CAGGCCCCTGCGCAGGCGCTG	0.657000													6	25					0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120829137	120829137	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:120829137G>A	ENST00000369144.3	-	6	898	c.771C>T	c.(769-771)caC>caT	p.H257H	EIF3A_ENST00000541549.1_Silent_p.H223H|EIF3A_ENST00000478852.1_Intron	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	257					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAATAGCCCGTGAATATCTT	0.323000													14	55					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53914080	53914080	+	Silent	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:53914080A>T	ENST00000335754.3	-	2	280	c.180T>A	c.(178-180)atT>atA	p.I60I	ACTR8_ENST00000482349.1_5'UTR	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	60					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGGCTCGACCAATCCTTAAAG	0.438000													16	72					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47775531	47775531	+	Silent	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr21:47775531G>T	ENST00000359568.5	+	12	2033	c.1926G>T	c.(1924-1926)ggG>ggT	p.G642G	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	642	Glu-rich.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTCTGAAGGGCACAGCCAAG	0.642000													6	19					0.00116845	0.0011876	1	1	0
U2SURP	23350	broad.mit.edu	37	3	142731100	142731100	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:142731100A>T	ENST00000473835.2	+	3	217	c.127A>T	c.(127-129)Agt>Tgt	p.S43C	U2SURP_ENST00000397933.2_5'UTR|U2SURP_ENST00000493598.2_Missense_Mutation_p.S43C	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	43					RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TGATATGCCAAGTCGGACACG	0.393000													10	42					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512130	61512130	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:61512130C>A	ENST00000266070.4	-	16	5503	c.5178G>T	c.(5176-5178)caG>caT	p.Q1726H	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1726H	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1726	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGGTCTGGCCTGTGGCTCTC	0.642000													19	119					1.9806e-07	2.11719e-07	1	1	0
SCP2	6342	broad.mit.edu	37	1	53443924	53443924	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:53443924C>T	ENST00000371514.3	+	9	878	c.710C>T	c.(709-711)gCc>gTc	p.A237V	SCP2_ENST00000528311.1_Missense_Mutation_p.A156V|SCP2_ENST00000407246.2_Missense_Mutation_p.A213V|SCP2_ENST00000371509.4_Missense_Mutation_p.A193V|SCP2_ENST00000473584.1_3'UTR|SCP2_ENST00000371513.5_Missense_Mutation_p.A193V	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	237					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						GCAATTTTGGCCAGTGAAGCA	0.433000													3	33					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105677540	105677540	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:105677540C>T	ENST00000546474.1	-	17	16874	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	BRF1_ENST00000440513.3_Missense_Mutation_p.D546N|BRF1_ENST00000446501.2_Missense_Mutation_p.D401N|BRF1_ENST00000392557.4_Missense_Mutation_p.D435N|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000547530.1_Missense_Mutation_p.D165N|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000327359.3_Missense_Mutation_p.D524N|BRF1_ENST00000379937.2_Missense_Mutation_p.D612N	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	639					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCTCCTCGTCGGCGTGGTAT	0.682000													10	55					0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126314960	126314960	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:126314960C>T	ENST00000525144.2	-	10	1415	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	KIRREL3_ENST00000525704.2_Missense_Mutation_p.R389H|KIRREL3_ENST00000529097.2_Missense_Mutation_p.R389H	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	389	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GTCCTCCTGGCGCACGGATTT	0.622000													9	60					0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327257	52327257	+	Missense_Mutation	SNP	G	G	A	rs143250626	by1000genomes	TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:52327257G>A	ENST00000339223.4	+	2	435	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	FPR3_ENST00000595991.1_Missense_Mutation_p.A86T	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	86					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.A86S(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GGTCTCAGTCGCCATGAGAGA	0.453000													13	62					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84705637	84705637	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:84705637G>A	ENST00000286744.5	+	29	5091	c.4867G>A	c.(4867-4869)Gac>Aac	p.D1623N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1623N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1623	TSP type-1 10.					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)			TCGGAAAGTCGACTGTATCCA	0.542000													8	22					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38850794	38850794	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:38850794A>T	ENST00000359357.3	+	52	7570	c.7316A>T	c.(7315-7317)aAt>aTt	p.N2439I	DNAH8_ENST00000449981.2_Missense_Mutation_p.N2656I|DNAH8_ENST00000441566.1_Missense_Mutation_p.N2403I					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTAGAACAAATTTTTTGATA	0.338000													8	63					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034605	128034605	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:128034605C>T	ENST00000338791.6	-	15	1949	c.1599G>A	c.(1597-1599)caG>caA	p.Q533Q	IMPDH1_ENST00000480861.1_Silent_p.Q443Q|IMPDH1_ENST00000470772.1_Silent_p.Q447Q|IMPDH1_ENST00000354269.5_Silent_p.Q523Q|IMPDH1_ENST00000348127.6_Silent_p.Q497Q|IMPDH1_ENST00000419067.2_Silent_p.Q500Q|IMPDH1_ENST00000378717.4_Silent_p.Q464Q|IMPDH1_ENST00000343214.4_Silent_p.Q423Q|IMPDH1_ENST00000496200.1_Silent_p.Q423Q	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	448					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ATCCTTTGTCCTGGATGGAGC	0.602000													4	59					0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63666265	63666265	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:63666265G>T	ENST00000402010.2	+	6	1013	c.434G>T	c.(433-435)gGc>gTc	p.G145V	MARK2_ENST00000350490.7_Missense_Mutation_p.G145V|MARK2_ENST00000513765.2_Missense_Mutation_p.G112V|MARK2_ENST00000509502.2_Missense_Mutation_p.G112V|MARK2_ENST00000508192.1_Missense_Mutation_p.G145V|MARK2_ENST00000361128.5_Missense_Mutation_p.G145V|MARK2_ENST00000315032.8_Missense_Mutation_p.G145V|MARK2_ENST00000408948.3_Missense_Mutation_p.G112V|MARK2_ENST00000502399.3_Missense_Mutation_p.G145V|MARK2_ENST00000377810.3_Missense_Mutation_p.G112V|MARK2_ENST00000413835.2_Missense_Mutation_p.G145V|MARK2_ENST00000377809.4_Missense_Mutation_p.G145V|MARK2_ENST00000425897.2_Missense_Mutation_p.G112V	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	145	Protein kinase.				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						GTGGCTCATGGCAGGATGAAA	0.527000													16	41					1.15088e-07	1.24095e-07	1	1	0
VEZT	55591	broad.mit.edu	37	12	95676135	95676135	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:95676135G>A	ENST00000436874.1	+	8	1148	c.1043G>A	c.(1042-1044)cGg>cAg	p.R348Q	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R300Q	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	348						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						TTCTTCAGACGGTTAGCCCTA	0.408000													8	32					0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628634	3628634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:3628634C>T	ENST00000325418.4	+	1	1424	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	469					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GGAATGCAGTCAGAAGGGTCC	0.448000													9	51					0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44530100	44530100	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:44530100G>A	ENST00000355451.6	-	1	379	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F		NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	34										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						TTGCGGTAGAGGAAGCCAAAG	0.647000													8	10					0	0	1	0	0
CHRDL1	91851	broad.mit.edu	37	X	110002960	110002960	+	Missense_Mutation	SNP	C	C	A	rs149609884		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:110002960C>A	ENST00000218054.4	-	4	426	c.230G>T	c.(229-231)cGa>cTa	p.R77L	CHRDL1_ENST00000444321.2_Missense_Mutation_p.R77L|CHRDL1_ENST00000372042.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000372045.1_Missense_Mutation_p.R71L|CHRDL1_ENST00000394797.4_Missense_Mutation_p.R77L|CHRDL1_ENST00000434224.1_Missense_Mutation_p.R77L|CHRDL1_ENST00000482160.1_Missense_Mutation_p.R77L	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	71	VWFC 1.				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		p.R77Q(1)		endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACATCTGACTCGGCTGCAAAG	0.443000													13	128					7.93312e-07	8.3365e-07	1	1	0
DENND6A	201627	broad.mit.edu	37	3	57614608	57614608	+	Nonsense_Mutation	SNP	A	A	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:57614608A>C	ENST00000311128.5	-	19	1695	c.1625T>G	c.(1624-1626)tTa>tGa	p.L542*	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		CCAGAGAAGTAAGTCCTAGAA	0.348000													4	35					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60887781	60887781	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:60887781C>T	ENST00000252999.3	-	67	9200	c.9134G>A	c.(9133-9135)cGg>cAg	p.R3045Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3045	Laminin G-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACCGTGGCCCGCTCCACACG	0.687000													3	9					0	0	1	0	0
PUM2	23369	broad.mit.edu	37	2	20483149	20483149	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:20483149T>A	ENST00000361078.2	-	10	1412	c.1390A>T	c.(1390-1392)Atg>Ttg	p.M464L	PUM2_ENST00000536417.1_Missense_Mutation_p.M408L|PUM2_ENST00000319801.5_Missense_Mutation_p.M464L|PUM2_ENST00000338086.5_Missense_Mutation_p.M464L|PUM2_ENST00000403432.1_Missense_Mutation_p.M464L			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	464	Ala-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTGGAGCCATTAACCGAACT	0.443000													27	29					0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133197147	133197147	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:133197147G>A	ENST00000389110.3	+	7	789	c.752G>A	c.(751-753)aGc>aAc	p.S251N	P2RX2_ENST00000352418.4_Missense_Mutation_p.S179N|P2RX2_ENST00000343948.4_Missense_Mutation_p.S251N|P2RX2_ENST00000351222.4_Missense_Mutation_p.S159N|P2RX2_ENST00000350048.5_Missense_Mutation_p.S227N|P2RX2_ENST00000449132.2_Silent_p.E215E|P2RX2_ENST00000348800.5_Missense_Mutation_p.S251N	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	251					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GCTGGGGAGAGCTTCACAGAG	0.647000													11	78					0	0	1	0	0
TBX19	9095	broad.mit.edu	37	1	168269713	168269713	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:168269713A>T	ENST00000367821.3	+	5	770	c.719A>T	c.(718-720)tAt>tTt	p.Y240F		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	240					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CATGTGACCTATTCTCACTGT	0.507000													7	15					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	30981575	30981575	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:30981575C>T	ENST00000318217.5	-	18	2714	c.2410G>A	c.(2410-2412)Gtt>Att	p.V804I	MYO1D_ENST00000394649.4_Missense_Mutation_p.V716I|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Missense_Mutation_p.V804I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	804						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACGGCTGCAACCTTTGCCCTG	0.517000													16	39					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51747075	51747075	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:51747075G>A	ENST00000395052.3	+	3	1271	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	GRM2_ENST00000442933.2_Missense_Mutation_p.R346H|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	346					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CCCTGGTTCCGTGAATTCTGG	0.602000													8	42					0	0	1	0	0
GLIPR1L2	144321	broad.mit.edu	37	12	75804313	75804313	+	Missense_Mutation	SNP	A	A	G	rs150816381		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:75804313A>G	ENST00000550916.1	+	2	381	c.334A>G	c.(334-336)Aaa>Gaa	p.K112E	GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.K5E|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.K112E|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.K47E	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	112						integral to membrane				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GGTCCATCCTAAATTTTATGG	0.363000													18	37					0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72289857	72289857	+	Splice_Site	SNP	T	T	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:72289857T>C	ENST00000550746.1	+	9	1099		c.e9+2		TBC1D15_ENST00000485960.2_Splice_Site|TBC1D15_ENST00000319106.8_Splice_Site|TBC1D15_ENST00000393309.3_Splice_Site	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15								protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTTAGAGGGGTAATTTAAACA	0.328000													10	38					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133423707	133423707	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:133423707C>T	ENST00000266880.7	-	16	1753	c.1690G>A	c.(1690-1692)Gca>Aca	p.A564T	CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000315585.7_Missense_Mutation_p.A524T|CHFR_ENST00000450056.2_Missense_Mutation_p.A553T|CHFR_ENST00000541341.1_5'UTR|CHFR_ENST00000432561.2_Missense_Mutation_p.A565T|CHFR_ENST00000443047.2_Missense_Mutation_p.A473T|CHFR_ENST00000537522.1_Missense_Mutation_p.A187T			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	565					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		CCTCTGGTTGCCAGGTAATTC	0.448000													25	59					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52825420	52825420	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:52825420G>A	ENST00000252245.5	-	4	997	c.777C>T	c.(775-777)gaC>gaT	p.D259D		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	259	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CAGCATCTACGTCCTGGAATG	0.498000													15	47					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137893475	137893475	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:137893475G>A	ENST00000260803.4	-	1	316	c.163C>T	c.(163-165)Ccg>Tcg	p.P55S	DBR1_ENST00000463982.2_5'UTR|DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	55						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TACTTGGGCGGCACGGCCATG	0.697000													3	17					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8130994	8130994	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:8130994C>G	ENST00000378641.3	+	2	628	c.153C>G	c.(151-153)ttC>ttG	p.F51L	PLCB1_ENST00000338037.6_Missense_Mutation_p.F51L|PLCB1_ENST00000378637.2_Missense_Mutation_p.F51L	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	51					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGGGATTTTTCTTTTACTGGA	0.313000													4	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403801	179403801	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:179403801G>T	ENST00000589042.1	-	353	99085	c.98861C>A	c.(98860-98862)aCc>aAc	p.T32954N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30386N|TTN_ENST00000460472.2_Missense_Mutation_p.T23889N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T31313N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24081N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T24014N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31313							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACATTGTGGTGGTGATCTG	0.502000													5	32					0.014758	0.014758	1	1	0
TBCE	6905	broad.mit.edu	37	1	235606175	235606175	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:235606175A>G	ENST00000543662.1	+	16	1607	c.1501A>G	c.(1501-1503)Ata>Gta	p.I501V	TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Missense_Mutation_p.I450V|TBCE_ENST00000366601.3_Missense_Mutation_p.I450V			Q15813	TBCE_HUMAN	tubulin folding cofactor E	450					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			AGCACTGAAGATAAAATACCC	0.363000													5	16					0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144852227	144852227	+	Missense_Mutation	SNP	T	T	A	rs116608682	by1000genomes	TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:144852227T>A	ENST00000367545.3	+	41	5946	c.5946T>A	c.(5944-5946)caT>caA	p.H1982Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1982					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACAGTTCCATTGTGACCTTA	0.438000													8	18					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073831	134073831	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:134073831A>G	ENST00000264360.4	+	1	3362	c.2536A>G	c.(2536-2538)Acg>Gcg	p.T846A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	846					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TTCGCGGAGTACGGACACTGA	0.562000													12	32					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942424	144942424	+	Silent	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:144942424G>T	ENST00000525985.1	-	2	5069	c.4998C>A	c.(4996-4998)gcC>gcA	p.A1666A				P58107	EPIPL_HUMAN	epiplakin 1	1666						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTCTGCATGGCCTGGAAGA	0.662000													43	96					1.00953e-15	1.12776e-15	1	1	0
TLR10	81793	broad.mit.edu	37	4	38777143	38777143	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:38777143C>G	ENST00000308973.4	-	4	674	c.69G>C	c.(67-69)gaG>gaC	p.E23D	TLR10_ENST00000506111.1_Missense_Mutation_p.E23D|TLR10_ENST00000508334.1_Missense_Mutation_p.E23D|TLR10_ENST00000361424.2_Missense_Mutation_p.E23D	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	23					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTTCTGGCAGCTCTGGAGCAT	0.428000													11	36					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220156621	220156621	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:220156621T>A	ENST00000366923.3	-	22	3479	c.3210A>T	c.(3208-3210)aaA>aaT	p.K1070N		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1070	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CAACACCAAGTTTCTTGATCT	0.433000													14	54					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273468	14273468	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:14273468T>C	ENST00000340736.6	-	6	1457	c.1160A>G	c.(1159-1161)tAt>tGt	p.Y387C	LPHN1_ENST00000361434.3_Missense_Mutation_p.Y382C|CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	387	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACCACGAAATAGTTGTTCCA	0.607000													18	115					0	0	1	0	0
DNAJC21	134218	broad.mit.edu	37	5	34945854	34945854	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:34945854A>G	ENST00000303525.7	+	9	1397	c.1170A>G	c.(1168-1170)atA>atG	p.I390M	DNAJC21_ENST00000342382.4_Intron|DNAJC21_ENST00000382021.2_Intron	NM_001012339.2	NP_001012339.2	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	381	Poly-Lys.				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTCGATTTATATTTGCTCTTA	0.294000													9	61					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71939816	71939816	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:71939816C>T	ENST00000298229.2	+	4	647	c.443C>T	c.(442-444)aCc>aTc	p.T148I	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	148					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCTGGCTCCACCAGCATTTCT	0.662000													17	72					0	0	1	0	0
CRHR1	1394	broad.mit.edu	37	17	43912044	43912044	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:43912044C>T	ENST00000314537.5	+	13	1387	c.1162C>T	c.(1162-1164)Cgt>Tgt	p.R388C	CRHR1_ENST00000352855.5_Missense_Mutation_p.R348C|CRHR1_ENST00000339069.5_Silent_p.S241S|CRHR1_ENST00000398285.3_Missense_Mutation_p.R417C|CRHR1_ENST00000293493.7_Missense_Mutation_p.R213C|CRHR1_ENST00000577353.1_Missense_Mutation_p.R374C	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	417					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GCACTCGATCCGTGCCCGAGT	0.627000													10	66					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53265501	53265501	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:53265501G>C	ENST00000462138.1	-	7	902	c.814C>G	c.(814-816)Cag>Gag	p.Q272E	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.Q280E|TKT_ENST00000423525.2_Missense_Mutation_p.Q272E|TKT_ENST00000296289.6_Missense_Mutation_p.Q225E			P29401	TKT_HUMAN	transketolase	272					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TAGATCTCCTGGATGATCTGC	0.557000													4	32					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42793356	42793356	+	Nonsense_Mutation	SNP	C	C	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:42793356C>G	ENST00000572681.2	+	9	3953	c.3885C>G	c.(3883-3885)taC>taG	p.Y1295*	CIC_ENST00000575354.2_Nonsense_Mutation_p.Y386*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Y386*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	386	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTGCATCGTACTCTGGCCCAA	0.672000			"""Mis, F, S"""		oligodendroglioma								27	125					0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123893848	123893848	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:123893848C>T	ENST00000375024.1	+	1	129	c.129C>T	c.(127-129)atC>atT	p.I43I		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		ACCTCCTCATCCTGCTGGTGA	0.572000													20	73					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31255198	31255198	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr12:31255198G>A	ENST00000407793.2	+	22	2475	c.2224G>A	c.(2224-2226)Gca>Aca	p.A742T	DDX11_ENST00000542838.1_Missense_Mutation_p.A742T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000545668.1_Missense_Mutation_p.A742T|DDX11_ENST00000350437.4_Missense_Mutation_p.A692T|DDX11_ENST00000228264.6_Missense_Mutation_p.A716T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	742					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACCTAAGAGCGCACACCAGGT	0.577000										Multiple Myeloma(12;0.14)			5	61					0	0	1	0	0
RPL3	6122	broad.mit.edu	37	22	39713632	39713632	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr22:39713632C>T	ENST00000216146.4	-	3	372	c.199G>A	c.(199-201)Gtg>Atg	p.V67M	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.V15M	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	67					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TTCTTGTTCACCTCTGCAAAA	0.532000													19	93					0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31915185	31915185	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:31915185G>A	ENST00000456570.1	+	16	2106	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	CFB_ENST00000477310.1_Missense_Mutation_p.R533H|CFB_ENST00000425368.2_Missense_Mutation_p.R182H|CFB_ENST00000556679.1_Missense_Mutation_p.R684H			P00751	CFAB_HUMAN	complement factor B	182	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCCAGTACCGCCTTGAAGAC	0.632000													20	123					0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35454378	35454378	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:35454378G>A	ENST00000378880.2	-	11	2134	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	PAMR1_ENST00000278360.3_Silent_p.I580I|PAMR1_ENST00000378878.3_Silent_p.I452I|PAMR1_ENST00000532848.1_Silent_p.I523I	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	563	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GGAGCTTCAGGATGGCGATGT	0.547000													11	40					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82578803	82578803	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:82578803C>T	ENST00000423517.2	-	6	11438	c.11101G>A	c.(11101-11103)Gag>Aag	p.E3701K	PCLO_ENST00000437081.1_Missense_Mutation_p.E421K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3701K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3632					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTATAGCCCTCGGTATACTGA	0.463000													20	120					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129517	83129517	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:83129517C>T	ENST00000329312.4	+	4	1838	c.1801C>T	c.(1801-1803)Cct>Tct	p.P601S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	601	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGGTAGAGTTCCTCCATCAAG	0.448000													9	39					0	0	1	0	0
ANKRD53	79998	broad.mit.edu	37	2	71206793	71206793	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr2:71206793C>T	ENST00000272421.6	+	3	686	c.420C>T	c.(418-420)ggC>ggT	p.G140G	ANKRD53_ENST00000457410.1_Silent_p.G106G|ANKRD53_ENST00000360589.3_Silent_p.G140G|AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000441349.1_Silent_p.G106G	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	140										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CCTCACAGGGCTTCACTGCCA	0.532000													7	6					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53787615	53787615	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:53787615A>G	ENST00000288139.3	+	30	3870	c.3752A>G	c.(3751-3753)aAg>aGg	p.K1251R	CACNA1D_ENST00000540742.1_Missense_Mutation_p.K138R|CACNA1D_ENST00000422281.2_Missense_Mutation_p.K1231R|CACNA1D_ENST00000350061.5_Missense_Mutation_p.K1231R	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1231					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAGCAGTCCAAGATGTTCAAT	0.512000													3	49					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156128598	156128598	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:156128598A>T	ENST00000368285.3	+	6	818	c.551A>T	c.(550-552)cAt>cTt	p.H184L	SEMA4A_ENST00000368286.2_Missense_Mutation_p.H52L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Missense_Mutation_p.H184L|SEMA4A_ENST00000355014.2_Missense_Mutation_p.H184L|SEMA4A_ENST00000368284.1_Missense_Mutation_p.H52L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	184	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					GCTCACAAGCATACGGCTGTC	0.488000													27	74					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; 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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642000		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)			19	47					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57987107	57987107	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:57987107C>T	ENST00000343280.4	-	3	380	c.120G>A	c.(118-120)gaG>gaA	p.E40E	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Intron|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Silent_p.E40E|AC004076.9_ENST00000596831.1_Silent_p.E40E|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GGAGCACCCACTCCTCCTGGG	0.562000													15	96					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6702579	6702579	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:6702579C>T	ENST00000245907.6	-	18	2349	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	753					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ATGATGTCCTCATCCAGGTTA	0.517000													12	51					0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57085349	57085349	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:57085349G>A	ENST00000532437.1	-	3	1052	c.741C>T	c.(739-741)tcC>tcT	p.S247S	TNKS1BP1_ENST00000358252.3_Silent_p.S247S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	247	Acidic.|Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGGCCAGGTCGGAAGGAAGGC	0.512000													8	41					0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13224399	13224399	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:13224399C>T	ENST00000319217.7	-	4	614	c.367G>A	c.(367-369)Gat>Aat	p.D123N	MPDZ_ENST00000381022.2_Missense_Mutation_p.D123N|MPDZ_ENST00000546205.1_Missense_Mutation_p.D123N|MPDZ_ENST00000381015.4_Missense_Mutation_p.D123N|MPDZ_ENST00000541718.1_Missense_Mutation_p.D123N|MPDZ_ENST00000536827.1_Missense_Mutation_p.D123N|MPDZ_ENST00000447879.1_Missense_Mutation_p.D123N	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	123					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATAAGCTGATCAAATTCATCA	0.338000													9	71					0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11197558	11197558	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:11197558A>C	ENST00000337414.4	-	7	2216	c.1344T>G	c.(1342-1344)ttT>ttG	p.F448L	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.F448L|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.F245L|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.F257L|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.F480L|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.F273L|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.F245L|ARHGAP6_ENST00000491514.1_5'UTR	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	448	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCCACGGTCAAATTCCTCAC	0.517000													17	44					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135383002	135383002	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:135383002C>G	ENST00000442011.2	+	6	825	c.664C>G	c.(664-666)Cac>Gac	p.H222D	TGFBI_ENST00000305126.8_Missense_Mutation_p.H222D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	222	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAAGCCGACCACCATGCAAC	0.532000													14	116					0	0	1	0	0
TTC13	79573	broad.mit.edu	37	1	231096993	231096993	+	Missense_Mutation	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:231096993A>T	ENST00000366661.4	-	2	335	c.328T>A	c.(328-330)Tgt>Agt	p.C110S	TTC13_ENST00000366662.4_Missense_Mutation_p.C110S|TTC13_ENST00000414259.1_Missense_Mutation_p.C110S	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	110							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AAGGAGTCACAGGGTGATGAT	0.418000													8	21					0	0	1	0	0
RSAD1	55316	broad.mit.edu	37	17	48559727	48559727	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:48559727G>A	ENST00000258955.2	+	4	835	c.750G>A	c.(748-750)ccG>ccA	p.P250P		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	250					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCCCTGACCCGGAGCTCGCAG	0.637000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	79					0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77589583	77589583	+	Silent	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr13:77589583G>A	ENST00000355619.5	-	4	928	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	FBXL3_ENST00000477982.1_5'UTR	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	202					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATTTTCAACAGCTTGAGTGTA	0.388000													30	56					0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62561861	62561861	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:62561861C>T	ENST00000532297.1	-	20	2258	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	NXF1_ENST00000294172.2_Silent_p.E543E|NXF1_ENST00000531709.2_3'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	543					gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTTTGGATCTCTTCAGAAC	0.493000													13	61					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140957875	140957875	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr5:140957875C>T	ENST00000253811.6	-	11	1220	c.1080G>A	c.(1078-1080)gtG>gtA	p.V360V	DIAPH1_ENST00000398562.2_Silent_p.V351V|DIAPH1_ENST00000518047.1_Silent_p.V351V|DIAPH1_ENST00000398557.4_Silent_p.V360V|DIAPH1_ENST00000520569.1_Silent_p.V306V|DIAPH1_ENST00000398566.3_Silent_p.V351V|DIAPH1_ENST00000389054.3_Silent_p.V360V|DIAPH1_ENST00000389057.5_Silent_p.V351V			O60610	DIAP1_HUMAN	diaphanous-related formin 1	360	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTTAGTTGCACTCTCATAT	0.428000													11	22					0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499135	103499135	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:103499135G>A	ENST00000372588.4	-	2	289	c.206C>T	c.(205-207)tCg>tTg	p.S69L		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	69					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TTGGTCGTCCGAGGGGACGGA	0.647000													25	238					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39448687	39448687	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:39448687G>A	ENST00000257408.4	+	4	2438	c.2341G>A	c.(2341-2343)Gac>Aac	p.D781N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	781	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAAGACCGGGGACTACCCCGC	0.672000													9	58					0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72131733	72131733	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:72131733G>T	ENST00000265381.4	-	2	616	c.394C>A	c.(394-396)Cag>Aag	p.Q132K		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	132					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GCCTCTGCCTGCTCCGTGTAC	0.711000													10	28					7.48243e-07	7.9301e-07	1	1	0
PNMA5	114824	broad.mit.edu	37	X	152159047	152159047	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:152159047G>A	ENST00000439251.1	-	2	1534	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	PNMA5_ENST00000361887.5_Nonsense_Mutation_p.Q366*|PNMA5_ENST00000535214.1_Nonsense_Mutation_p.Q366*|PNMA5_ENST00000452693.1_Nonsense_Mutation_p.Q366*	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	366					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACGGTGGCCTGAGGTGCAGAG	0.587000													25	97					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91132781	91132781	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:91132781C>A	ENST00000373094.1	+	2	2387	c.1542C>A	c.(1540-1542)agC>agA	p.S514R	PCDH11X_ENST00000395337.2_Missense_Mutation_p.S514R|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S514R|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S514R|PCDH11X_ENST00000504220.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000361724.1_Missense_Mutation_p.S514R|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S514R	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	514	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGAATTCAGCCTGGATTGTC	0.438000													16	36					1.3612e-06	1.40658e-06	1	1	0
POLR2M	81488	broad.mit.edu	37	15	58001333	58001333	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr15:58001333A>G	ENST00000299638.3	+	2	749	c.535A>G	c.(535-537)Agt>Ggt	p.S179G	GCOM1_ENST00000484300.1_Intron|GCOM1_ENST00000587652.1_Missense_Mutation_p.S576G|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000380568.3_Intron|POLR2M_ENST00000380557.4_Intron|POLR2M_ENST00000380563.2_Missense_Mutation_p.S179G|POLR2M_ENST00000464308.1_3'UTR	NM_015532.3	NP_056347.1			polymerase (RNA) II (DNA directed) polypeptide M																		TCGTGTTTCAAGTCAAGCGGA	0.483000													8	35					0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15381434	15381434	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:15381434G>C	ENST00000297904.3	-	2	527	c.98C>G	c.(97-99)tCt>tGt	p.S33C		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	33					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGTGGACTGAGATGATCGCTT	0.353000													5	37					0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144891803	144891803	+	Missense_Mutation	SNP	G	G	A	rs146580395		TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:144891803G>A	ENST00000356994.2	-	14	1622	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	SCRIB_ENST00000320476.3_Missense_Mutation_p.P539L|SCRIB_ENST00000377533.3_Missense_Mutation_p.P458L	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	539	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-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;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTCAGCCGACGGGCCCTCGGG	0.657000													13	107					0	0	1	0	0
SEC22A	26984	broad.mit.edu	37	3	122942410	122942410	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:122942410A>G	ENST00000309934.4	+	2	1083	c.187A>G	c.(187-189)Att>Gtt	p.I63V	SEC22A_ENST00000492595.1_Missense_Mutation_p.I63V|SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	63	Longin.				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		CTGTAGTTTTATTAGCTCTCT	0.363000													15	83					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50737427	50737427	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:50737427C>T	ENST00000403097.1	-	6	1258	c.478G>A	c.(478-480)Gca>Aca	p.A160T	GRB10_ENST00000402497.1_Missense_Mutation_p.A108T|GRB10_ENST00000398812.2_Missense_Mutation_p.A166T|GRB10_ENST00000398810.2_Missense_Mutation_p.A108T|GRB10_ENST00000439599.1_Missense_Mutation_p.A160T|GRB10_ENST00000335866.3_Missense_Mutation_p.A108T|GRB10_ENST00000357271.5_Missense_Mutation_p.A166T|GRB10_ENST00000401949.1_Missense_Mutation_p.A166T|GRB10_ENST00000407526.1_Missense_Mutation_p.A108T|GRB10_ENST00000406641.1_Missense_Mutation_p.A108T|GRB10_ENST00000402578.1_Missense_Mutation_p.A108T			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	166					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					ACCTGCTTTGCGGCGGCCTGG	0.587000									Russell-Silver syndrome				3	32					0	0	1	0	0
FAM150A	389658	broad.mit.edu	37	8	53452399	53452399	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:53452399G>A	ENST00000358543.4	-	3	567	c.317C>T	c.(316-318)aCg>aTg	p.T106M	FAM150A_ENST00000523939.1_Missense_Mutation_p.T106M	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	106						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				ACAAGCTGGCGTTGAGCACTC	0.388000													10	20					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72184072	72184072	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr8:72184072C>T	ENST00000340726.3	-	10	1526	c.887G>A	c.(886-888)cGt>cAt	p.R296H	EYA1_ENST00000303824.7_Missense_Mutation_p.R290H|EYA1_ENST00000388741.2_Missense_Mutation_p.R262H|EYA1_ENST00000388743.2_Missense_Mutation_p.R295H|EYA1_ENST00000419131.1_Missense_Mutation_p.R291H|EYA1_ENST00000388740.3_Missense_Mutation_p.R263H|EYA1_ENST00000388742.4_Missense_Mutation_p.R296H	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	296					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TGAACCTCGACGCAATCGATC	0.458000													19	173					0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103518735	103518735	+	Silent	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr4:103518735C>T	ENST00000226574.4	+	15	2021	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	NFKB1_ENST00000600343.1_Silent_p.F337F|NFKB1_ENST00000394820.4_Silent_p.F517F|NFKB1_ENST00000505458.1_Silent_p.F517F	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	517	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	ATGCCCTTTTCGACTACGCGG	0.498000													12	58					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233289	43233289	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr19:43233289G>A	ENST00000327495.5	-	5	1413	c.1229C>T	c.(1228-1230)aCa>aTa	p.T410I	PSG3_ENST00000595140.1_Missense_Mutation_p.T410I	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	410	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GACTTTGACTGTCATGGATTT	0.448000													4	155					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128513	83128513	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:83128513G>A	ENST00000329312.4	+	4	834	c.797G>A	c.(796-798)aGg>aAg	p.R266K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	266					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GCATGGTTAAGGAATTACTCA	0.318000													6	29					0	0	1	0	0
HTRA1	5654	broad.mit.edu	37	10	124249010	124249010	+	Silent	SNP	C	C	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:124249010C>A	ENST00000368984.3	+	3	773	c.645C>A	c.(643-645)atC>atA	p.I215I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	215	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ATGGACTGATCGTGACAAATG	0.488000													14	68					1.5842e-08	1.72317e-08	1	1	0
ATG13	9776	broad.mit.edu	37	11	46690952	46690952	+	Splice_Site	SNP	A	A	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr11:46690952A>T	ENST00000434074.1	+	16	2036		c.e16-1		ATG13_ENST00000359513.4_Splice_Site|ATG13_ENST00000451945.1_Splice_Site|ATG13_ENST00000528494.1_Splice_Site|ATG13_ENST00000529655.1_Splice_Site|ATG13_ENST00000312040.4_Splice_Site|ATG13_ENST00000526508.1_Splice_Site|ATG13_ENST00000524625.1_Splice_Site|ATG13_ENST00000530500.1_Splice_Site	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13						autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TTGTTTTTGAAGAAACCAGCT	0.433000													15	98					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771972	157771972	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr1:157771972G>A	ENST00000358292.3	-	5	670	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.R207C|FCRL1_ENST00000491942.1_Missense_Mutation_p.R207C	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	207						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGGATTGGGCGAGACACCGGG	0.577000													3	44					0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280480	105280480	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chrX:105280480T>A	ENST00000327674.4	-	1	905	c.570A>T	c.(568-570)caA>caT	p.Q190H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.Q190H			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	190					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCTTGAGGTCTTGAATTAGAC	0.413000													32	106					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102356620	102356620	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr14:102356620G>A	ENST00000422945.2	+	8	865	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E226K|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.E226K|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E226K|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E281K|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E226K	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	226					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAGTTACTGGAAATATTGGG	0.378000													5	43					0	0	1	0	0
SERTM1	400120	broad.mit.edu	37	13	37269387	37269387	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr13:37269387C>T	ENST00000315190.3	+	2	618	c.172C>T	c.(172-174)Ctt>Ttt	p.L58F		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	58						integral to membrane											TCTGCTTCTGCTTTTAATCAT	0.483000													11	105					0	0	1	0	0
EIF2S2	8894	broad.mit.edu	37	20	32685276	32685276	+	Silent	SNP	A	A	G			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr20:32685276A>G	ENST00000374980.2	-	5	701	c.480T>C	c.(478-480)agT>agC	p.S160S		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	160						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CTGTCTGATTACTGAATGAGA	0.408000													8	33					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49570261	49570261	+	Frame_Shift_Del	DEL	A	A	-			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr3:49570261delA	ENST00000545947.1	+	6	3039	c.2317delA	c.(2317-2319)tcfs	p.I773fs	DAG1_ENST00000541308.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000539901.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000515359.2_Frame_Shift_Del_p.I773fs|DAG1_ENST00000538711.1_Frame_Shift_Del_p.I773fs|DAG1_ENST00000308775.2_Frame_Shift_Del_p.I773fs	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	773					cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CATTGCCATGATCTGCTACCG	0.557													8	22	---	---	---	---					
RGL2	5863	broad.mit.edu	37	6	33260029	33260030	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr6:33260029_33260030insA	ENST00000497454.1	-	18	2678_2679	c.2183_2184insT	c.(2182-2184)tctfs	p.S728fs	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	728	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GCCGCAGGAGGAAATCGTGTGA	0.579													24	75	---	---	---	---					
ETV1	2115	broad.mit.edu	37	7	14017092	14017092	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr7:14017092delG	ENST00000430479.1	-	6	862	c.195delC	c.(193-195)gafs	p.D65fs	ETV1_ENST00000405192.2_Frame_Shift_Del_p.D65fs|ETV1_ENST00000403685.1_Intron|ETV1_ENST00000405218.2_Frame_Shift_Del_p.D65fs|ETV1_ENST00000403527.1_Frame_Shift_Del_p.D25fs|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000242066.5_Intron|ETV1_ENST00000399357.3_Frame_Shift_Del_p.D25fs|ETV1_ENST00000405358.4_Frame_Shift_Del_p.D79fs|ETV1_ENST00000420159.2_Intron|ETV1_ENST00000343495.5_Intron	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	65					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCTCATCATTGTCAGGTACCT	0.338			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								2	4	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971207	21971207	+	Splice_Site	DEL	C	C	-			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr9:21971207delC	ENST00000579755.1	-	2	486	c.193_splice	c.e2-1	p.G65_splice	CDKN2A_ENST00000446177.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000579122.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000361570.3_Splice_Site_p.G106_splice|CDKN2A_ENST00000479692.2_5'UTR|CDKN2A_ENST00000497750.1_5'UTR|CDKN2A_ENST00000494262.1_5'UTR|CDKN2A_ENST00000498124.1_Splice_Site_p.V51_splice|CDKN2A_ENST00000304494.5_Splice_Site_p.V51_splice|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000530628.2_Splice_Site_p.G65_splice|CDKN2A_ENST00000498628.2_5'UTR|RP11-145E5.5_ENST00000404796.2_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	82					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(48)|p.V51I(2)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ATCATCATGACCTGCCAGAGA	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	23	---	---	---	---					
SVIL	6840	broad.mit.edu	37	10	29751233	29751234	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr10:29751233_29751234insC	ENST00000375398.2	-	38	6823_6824	c.6374_6375insG	c.(6373-6375)agafs	p.R2125fs	SVIL_ENST00000375400.3_Frame_Shift_Ins_p.R1699fs|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000355867.4_Frame_Shift_Ins_p.R2125fs|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Ins_p.R1039fs|PTCHD3P1_ENST00000445521.1_RNA			O95425	SVIL_HUMAN	supervillin	2125					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CGATGTCCTCTCTGTGCTCCCA	0.510													13	83	---	---	---	---					
ARHGDIA	396	broad.mit.edu	37	17	79827748	79827749	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-A6EM-01A-21D-A31L-08	TCGA-D6-A6EM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94e13190-f323-4d13-8da2-c08933b1a1a3	fd9ad3e5-f2bc-4ae2-b861-9816276ccc1a	g.chr17:79827748_79827749insC	ENST00000269321.7	-	2	193_194	c.58_59insG	c.(58-60)ggafs	p.G20fs	ARHGDIA_ENST00000584461.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000580685.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000581876.1_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000541078.2_Frame_Shift_Ins_p.G20fs|ARHGDIA_ENST00000400721.4_Frame_Shift_Ins_p.G20fs	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	20					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GTGCTCATCCTCCTCGTTCTCC	0.624													23	54	---	---	---	---					
