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
TRBV6-6	0	broad.mit.edu	37	7	142162076	142162076	+	RNA	SNP	A	A	C			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:142162076A>C	ENST00000390371.3	-	0	242																											CCAACTGAATAATAAATCAGC	0.488000													128	231					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007581	6007581	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:6007581G>T	ENST00000332249.4	-	1	634	c.580C>A	c.(580-582)Cat>Aat	p.H194N		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAATAGGCATGGCCTATGATG	0.488000													60	146					4.64219e-42	5.21354e-42	1	1	0
TMEM79	84283	broad.mit.edu	37	1	156256177	156256177	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:156256177T>A	ENST00000405535.2	+	3	1055	c.884T>A	c.(883-885)tTc>tAc	p.F295Y	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000357501.2_Silent_p.L56L|TMEM79_ENST00000295694.5_Missense_Mutation_p.F295Y	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	295						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					ATTCTCTACTTCTTCAACCTG	0.577000													5	281					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3267090	3267090	+	Silent	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:3267090G>A	ENST00000602557.1	-	14	2157	c.1602C>T	c.(1600-1602)ccC>ccT	p.P534P	CSMD1_ENST00000520002.1_Silent_p.P534P|CSMD1_ENST00000537824.1_Silent_p.P533P|CSMD1_ENST00000400186.3_Silent_p.P534P|CSMD1_ENST00000602723.1_Silent_p.P534P|CSMD1_ENST00000542608.1_Silent_p.P533P|CSMD1_ENST00000539096.1_Silent_p.P533P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	534	Sushi 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCATAGGCGGGGATTCCAG	0.478000													4	15					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78212618	78212618	+	RNA	SNP	A	A	G			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr15:78212618A>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							TGTAACCGCCACTGGAGGACC	0.562000													6	72					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47384421	47384421	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:47384421C>T	ENST00000398879.1	-	20	2948	c.2582G>A	c.(2581-2583)cGc>cAc	p.R861H	TNS3_ENST00000355730.3_Missense_Mutation_p.R621H|TNS3_ENST00000311160.9_Missense_Mutation_p.R861H			Q68CZ2	TENS3_HUMAN	tensin 3	861						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGGAGGATGGCGCAGCGCTGT	0.582000													19	59					0	0	1	0	0
IGHA2	0	broad.mit.edu	37	14	106054658	106054658	+	RNA	SNP	T	T	G	rs114771275	by1000genomes	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr14:106054658T>G	ENST00000390539.2	-	0	74																											GGACCAGGCATGCGACGACCA	0.622000													4	82					0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47266692	47266692	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr13:47266692A>G	ENST00000311191.6	+	8	1265	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	LRCH1_ENST00000389798.3_Missense_Mutation_p.S346G|LRCH1_ENST00000389797.3_Missense_Mutation_p.S346G	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	346										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGACACTGTTAGCCTCAATGT	0.393000													47	119					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152804261	152804261	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr6:152804261C>T	ENST00000367255.5	-	14	1910	c.1309G>A	c.(1309-1311)Gaa>Aaa	p.E437K	SYNE1_ENST00000367248.3_Missense_Mutation_p.E427K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E437K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E437K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E444K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E437K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E444K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E437K|SYNE1_ENST00000466159.2_Missense_Mutation_p.E437K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	437					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTGCTGTTTCCTCGTGGACC	0.493000										HNSCC(10;0.0054)			128	262					0	0	1	0	0
ZNF717	100131827	broad.mit.edu	37	3	75790798	75790798	+	Translation_Start_Site	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:75790798G>A	ENST00000478296.1	-	0	273				ZNF717_ENST00000477374.1_Silent_p.D49D|ZNF717_ENST00000400845.3_Silent_p.D42D|ZNF717_ENST00000422325.1_Silent_p.D49D|ZNF717_ENST00000491507.1_5'UTR			C9JSV9	C9JSV9_HUMAN	zinc finger protein 717						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						CCAGCATCACGTCCCTGTACA	0.502000													5	19					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73558150	73558150	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:73558150C>T	ENST00000224721.6	+	49	6889	c.6884C>T	c.(6883-6885)aCg>aTg	p.T2295M	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.T50M	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2290					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AATGACAATACGCCCCAGTTC	0.612000													12	83					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47851559	47851559	+	Silent	SNP	A	A	G			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr21:47851559A>G	ENST00000359568.5	+	38	8288	c.8181A>G	c.(8179-8181)tcA>tcG	p.S2727S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2727					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)					TCGAGCACTCACGCTGCGAGG	0.622000													5	85					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	83					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956993	1956993	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:1956993C>T	ENST00000378585.4	+	4	369	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	96						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCAGAGCTGGCGGGACAGCAG	0.652000													5	159					0	0	1	0	0
PCDHB12	0	broad.mit.edu	37	5	140589269	140589269	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr5:140589269G>A	ENST00000239450.2	+	1	979	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		264	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTTGTGACCGTCTCAGCCTG	0.423000													93	166					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													4	106					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													10	93					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114269988	114269988	+	Silent	SNP	G	G	A	rs147822368		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:114269988G>A	ENST00000393500.3	+	11	1120	c.300G>A	c.(298-300)caG>caA	p.Q100Q	AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000408937.3_Silent_p.Q200Q|FOXP2_ENST00000360232.4_Silent_p.Q175Q|FOXP2_ENST00000393491.3_Silent_p.Q83Q|FOXP2_ENST00000393494.2_Silent_p.Q175Q|FOXP2_ENST00000393489.3_Silent_p.Q83Q|FOXP2_ENST00000378237.3_Silent_p.Q175Q|FOXP2_ENST00000390668.3_Silent_p.Q199Q|FOXP2_ENST00000350908.4_Silent_p.Q175Q|FOXP2_ENST00000403559.4_Silent_p.Q192Q|FOXP2_ENST00000393498.2_Silent_p.Q155Q			O15409	FOXP2_HUMAN	forkhead box P2	175	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacaacaacagcagcaacaac	0.502000													6	95					0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495175	32495175	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr22:32495175T>A	ENST00000266088.4	+	12	1536	c.1286T>A	c.(1285-1287)tTt>tAt	p.F429Y	SLC5A1_ENST00000543737.1_Missense_Mutation_p.F302Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	429					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TTCAGGTTGTTTATCCTGGTG	0.368000													7	185					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56868364	56868364	+	Silent	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:56868364G>A	ENST00000311966.4	-	12	1466	c.1188C>T	c.(1186-1188)tgC>tgT	p.C396C	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	396					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CATACATGCCGCAGGAATGCA	0.562000													5	134					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28821556	28821556	+	Silent	SNP	C	C	T	rs144960282		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr2:28821556C>T	ENST00000422425.2	+	34	2414	c.2370C>T	c.(2368-2370)taC>taT	p.Y790Y	PLB1_ENST00000327757.5_Silent_p.Y801Y	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	801	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCACAGGCTACGCCGTGGGCA	0.532000													9	189					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													5	115					0	0	1	0	0
HDDC3	374659	broad.mit.edu	37	15	91475096	91475096	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr15:91475096G>A	ENST00000330334.3	-	3	252	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	HDDC3_ENST00000394272.3_Missense_Mutation_p.R83W|UNC45A_ENST00000394275.2_Intron|HDDC3_ENST00000559898.1_Missense_Mutation_p.R83W	NM_198527.2	NP_940929.1	Q8N4P3	MESH1_HUMAN	HD domain containing 3	83	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACCAGGCGCCGCACTTGTGCC	0.622000											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	144					0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464292	104464292	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chrX:104464292C>T	ENST00000372578.3	-	3	697	c.586G>A	c.(586-588)Gag>Aag	p.E196K	TEX13A_ENST00000413579.1_Missense_Mutation_p.E196K|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E196K|IL1RAPL2_ENST00000344799.4_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	196						intracellular	zinc ion binding	p.E196Q(1)		large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCCTCTGCTCTTCTTCTGCT	0.652000													19	5					0	0	1	0	0
BMS1P20	0	broad.mit.edu	37	22	22664239	22664239	+	RNA	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr22:22664239C>T	ENST00000426066.1	+	0	762					NR_027293.1																						GGATAAGCTGCTGATGAGCGG	0.532000													4	100					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195698264	195698264	+	RNA	SNP	T	T	C	rs12485654	by1000genomes	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:195698264T>C	ENST00000427841.1	-	0	1608					NR_003264.2																						TTTGTCAACATTCGTGACAGA	0.413000													6	89					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911727	88911727	+	Silent	SNP	T	T	C			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:88911727T>C	ENST00000263321.5	+	1	1108	c.606T>C	c.(604-606)caT>caC	p.H202H	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	202					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ATTTTGCCCATGAAGCACCAG	0.418000													6	147					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83195218	83195218	+	Silent	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:83195218G>A	ENST00000398309.2	-	17	2402	c.1932C>T	c.(1930-1932)ttC>ttT	p.F644F	DLG2_ENST00000376104.2_Silent_p.F749F|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000543673.1_Silent_p.F749F|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000531015.1_Silent_p.F611F|DLG2_ENST00000280241.8_Silent_p.F683F|DLG2_ENST00000426717.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000404783.3_Intron|DLG2_ENST00000418306.2_Intron	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	644						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TGTTCTTGTAGAATGGGAATT	0.393000													35	138					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139833397	139833397	+	Silent	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:139833397G>A	ENST00000303045.6	-	7	1673	c.1227C>T	c.(1225-1227)taC>taT	p.Y409Y	COL22A1_ENST00000435777.1_Silent_p.Y409Y	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	409	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.Y409Y(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCACACTGTCGTAGAGGCGCT	0.587000										HNSCC(7;0.00092)			32	53					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102294715	102294715	+	RNA	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr15:102294715C>T	ENST00000561463.1	+	0	2761																											AGCAGGCAGACCAAGGAGTTC	0.587000													5	24					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61967816	61967816	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:61967816G>A	ENST00000280772.2	-	10	1363	c.1172C>T	c.(1171-1173)gCt>gTt	p.A391V	ANK3_ENST00000373827.2_Missense_Mutation_p.A385V|ANK3_ENST00000503366.1_Missense_Mutation_p.A374V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTGGGGTTAGCTTTCTTATC	0.527000													7	102					0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74269718	74269718	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr13:74269718C>A	ENST00000377669.2	-	7	1144	c.1118G>T	c.(1117-1119)gGa>gTa	p.G373V	KLF12_ENST00000377666.4_Missense_Mutation_p.G373V	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	373					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TGGCTTCACTCCCGTATGTTT	0.527000													30	66					1.16021e-09	1.22747e-09	1	1	0
MKI67	4288	broad.mit.edu	37	10	129906979	129906979	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr10:129906979C>T	ENST00000368654.3	-	13	3500	c.3125G>A	c.(3124-3126)gGc>gAc	p.G1042D	MKI67_ENST00000368653.3_Missense_Mutation_p.G682D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1042	16 X 122 AA approximate repeats.		G -> S (in dbSNP:rs2152143).		cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGTGAACTTGCCGACTGCTAG	0.507000													6	724					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885289	12885289	+	Silent	SNP	G	G	T	rs148273194	by1000genomes	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:12885289G>T	ENST00000535591.1	-	4	1017	c.822C>A	c.(820-822)ctC>ctA	p.L274L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	274								p.L274L(3)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCACTGGGAGAGATGCTTCA	0.458000													7	262					5.18039e-06	5.25234e-06	1	1	0
STAC	6769	broad.mit.edu	37	3	36484942	36484942	+	Silent	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:36484942C>T	ENST00000273183.3	+	2	498	c.198C>T	c.(196-198)agC>agT	p.S66S	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Silent_p.S66S	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	66					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GAACCAACAGCGAAGACATGA	0.527000													45	69					0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33514747	33514747	+	Silent	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr20:33514747C>T	ENST00000360596.2	+	17	2182	c.1971C>T	c.(1969-1971)acC>acT	p.T657T	ACSS2_ENST00000253382.5_Silent_p.T670T|ACSS2_ENST00000336325.4_Silent_p.T607T|ACSS2_ENST00000476922.1_3'UTR	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	657					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGCCTAAAACCCGCTCAGGTA	0.532000													27	32					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	491	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547000													4	67					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111494145	111494145	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:111494145G>T	ENST00000369763.4	-	2	1751	c.1361C>A	c.(1360-1362)aCc>aAc	p.T454N	LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGGATTTGTGGTAGAAGGAGA	0.393000													63	139					1.63498e-16	1.7814e-16	1	1	0
ACCSL	390110	broad.mit.edu	37	11	44076793	44076793	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr11:44076793C>A	ENST00000378832.1	+	9	1147	c.1091C>A	c.(1090-1092)tCt>tAt	p.S364Y		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	364							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TACATGCTGTCTGTGTTTGAT	0.393000													21	51					1.9806e-07	2.06548e-07	1	1	0
AC005609.1	0	broad.mit.edu	37	5	140242899	140242899	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr5:140242899T>C	ENST00000502505.1	-	1	325	c.77A>G	c.(76-78)gAc>gGc	p.D26G	PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron																							CTGCGTGGTGTCCAGCCTGTT	0.642000													31	78					0	0	1	0	0
SDHAP1	0	broad.mit.edu	37	3	195698262	195698262	+	RNA	SNP	C	C	G	rs28503679	by1000genomes	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:195698262C>G	ENST00000427841.1	-	0	1610					NR_003264.2																						AATTTGTCAACATTCGTGACA	0.418000													5	95					0	0	1	0	0
ATG3	64422	broad.mit.edu	37	3	112255367	112255367	+	Missense_Mutation	SNP	T	T	C	rs79676996		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:112255367T>C	ENST00000402314.2	-	10	1136	c.749A>G	c.(748-750)cAc>cGc	p.H250R	ATG3_ENST00000283290.5_Missense_Mutation_p.H250R|ATG3_ENST00000495756.1_5'UTR	NM_001278712.1	NP_001265641.1	Q9NT62	ATG3_HUMAN	autophagy related 3	250					autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CAGATGAGGGTGATTTTCAAT	0.388000													31	66					0	0	1	0	0
BMS1P20	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	57					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67040650	67040650	+	Silent	SNP	A	A	C			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr17:67040650A>C	ENST00000340001.4	-	5	772	c.561T>G	c.(559-561)gcT>gcG	p.A187A	ABCA9_ENST00000453985.2_Silent_p.A187A|ABCA9_ENST00000495634.1_Silent_p.A187A|ABCA9_ENST00000370732.2_Silent_p.A187A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	187					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CTATGATAGCAGCATTAATGG	0.353000													16	46					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													9	64					0	0	1	0	0
CLEC4A	50856	broad.mit.edu	37	12	8289395	8289395	+	Silent	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:8289395C>T	ENST00000229332.5	+	5	709	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CLEC4A_ENST00000360500.3_Silent_p.F115F|CLEC4A_ENST00000345999.3_Silent_p.F82F|CLEC4A_ENST00000352620.3_Silent_p.F121F	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	154	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		ATTTCATCTTCCAGAATCTGC	0.413000													35	51					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33033194	33033194	+	Nonsense_Mutation	SNP	T	T	G			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr20:33033194T>G	ENST00000374864.4	+	11	1281	c.1068T>G	c.(1066-1068)taT>taG	p.Y356*	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Nonsense_Mutation_p.Y246*|ITCH_ENST00000262650.6_Nonsense_Mutation_p.Y397*	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	397	WW 1.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TCCGGAACTATGAACAATGGC	0.458000													49	48					0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24852919	24852919	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr13:24852919A>T	ENST00000343003.6	+	2	296	c.81A>T	c.(79-81)aaA>aaT	p.K27N	RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000409126.1_Intron|SPATA13_ENST00000382108.3_Intron|SPATA13_ENST00000382095.4_Intron|SPATA13_ENST00000424834.2_Intron|SPATA13_ENST00000399949.2_Intron			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	0					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		AAAAAGAAAAATATAGAAAAG	0.363000													14	15					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134232956	134232956	+	Missense_Mutation	SNP	G	G	A	rs140648348	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:134232956G>A	ENST00000250160.6	+	3	588	c.482G>A	c.(481-483)cGc>cAc	p.R161H	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Intron|WISP1_ENST00000517423.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	161	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CTCCGAGTGCGCCCCCCGCGT	0.657000													10	127					0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50251640	50251640	+	RNA	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:50251640C>T	ENST00000420502.1	+	0	162							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GCCATGGAGGCGCCTTTGCAG	0.607000													6	25					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416568	121416568	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr3:121416568C>A	ENST00000393667.3	-	13	2912	c.2802G>T	c.(2800-2802)aaG>aaT	p.K934N	GOLGB1_ENST00000340645.5_Missense_Mutation_p.K929N	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	929					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTTTAAGAGTCTTAATTTCAA	0.358000													56	179					3.76997e-23	4.16981e-23	1	1	0
NAV3	89795	broad.mit.edu	37	12	78362364	78362364	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:78362364C>T	ENST00000397909.2	+	5	726	c.553C>T	c.(553-555)Caa>Taa	p.Q185*	NAV3_ENST00000266692.7_Nonsense_Mutation_p.Q185*|NAV3_ENST00000536525.2_Nonsense_Mutation_p.Q185*|NAV3_ENST00000228327.6_Nonsense_Mutation_p.Q185*			Q8IVL0	NAV3_HUMAN	neuron navigator 3	185						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTACAAGCAGCAACAACACCA	0.413000										HNSCC(70;0.22)			35	89					0	0	1	0	0
BMS1P20	0	broad.mit.edu	37	22	22664240	22664240	+	RNA	SNP	T	T	G			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr22:22664240T>G	ENST00000426066.1	+	0	763					NR_027293.1																						GATAAGCTGCTGATGAGCGGT	0.532000													4	101					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1988172	1988172	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr12:1988172C>T	ENST00000382722.5	-	15	1956	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G532S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G468S|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.G417S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G468S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G532S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	532	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACATCTGAGCCCACCACACCC	0.602000													20	44					0	0	1	0	0
RP11-343N15.1	0	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329					NR_104189.1																						ATTTCGCCCTCCACCGCCGCCGC	0.631													7	19	---	---	---	---					
NBPF20	100288142	broad.mit.edu	37	1	148262295	148262297	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr1:148262295_148262297delTTC	ENST00000369202.1	-	98	12316_12318	c.12119_12121delGAA	c.(12118-12123)agaaaa>aaa	p.R4040del						neuroblastoma breakpoint family, member 20											breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						tccccttcttttcttccccttct	0.438													8	218	---	---	---	---					
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr2:96992793_96992795delGAG	ENST00000361124.4	+	1	859_861	c.448_450delGAG	c.(448-450)gagdel	p.E155del	ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532													7	103	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175585079	175585079	+	RNA	DEL	A	A	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr2:175585079delA	ENST00000442996.1	+	0	217																											TTTCATTCTCAAAAAAAAAAA	0.368											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	8	---	---	---	---					
CXXC4	80319	broad.mit.edu	37	4	105412465	105412467	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr4:105412465_105412467delGCC	ENST00000394767.2	-	2	943_945	c.493_495delGGC	c.(493-495)ggcdel	p.G165del	CXXC4_ENST00000426831.1_5'UTR|CXXC4_ENST00000466963.1_Intron|AC004053.1_ENST00000500179.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	0	Interaction with DVL1 (By similarity).				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TGGTCCTgctgccgccgccgccg	0.695													8	149	---	---	---	---					
RP11-440G9.1	0	broad.mit.edu	37	6	142860298	142860299	+	RNA	INS	-	-	T	rs143051118	by1000genomes	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.470													5	7	---	---	---	---					
TRBV6-5	0	broad.mit.edu	37	7	142180819	142180821	+	RNA	DEL	AGG	AGG	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr7:142180819_142180821delAGG	ENST00000390368.2	-	0	115																											CCTGCAGAGAAGGAGAACAAAGC	0.557													7	178	---	---	---	---					
ZNF395	55893	broad.mit.edu	37	8	28209226	28209228	+	In_Frame_Del	DEL	GCA	GCA	-	rs142343457	byFrequency	TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:28209226_28209228delGCA	ENST00000344423.5	-	7	1148_1150	c.1017_1019delTGC	c.(1015-1020)gctgcc>gcc	p.339_340AA>A	ZNF395_ENST00000523095.1_In_Frame_Del_p.339_340AA>A|ZNF395_ENST00000523202.1_In_Frame_Del_p.339_340AA>A	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	339					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GGTGCCTgcggcagcagcagcag	0.606													8	226	---	---	---	---					
DPYS	1807	broad.mit.edu	37	8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	544	---	---	---	---					
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557													7	119	---	---	---	---					
PRDM12	59335	broad.mit.edu	37	9	133543701	133543702	+	Splice_Site	DEL	GT	GT	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr9:133543701_133543702delGT	ENST00000253008.2	+	3	630		c.e3+1			NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCCATTGAGGTGTGTGTGTGT	0.594													11	115	---	---	---	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													8	104	---	---	---	---					
TRIM28	10155	broad.mit.edu	37	19	59059081	59059082	+	Splice_Site	INS	-	-	T			TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr19:59059081_59059082insT	ENST00000253024.5	+	5	1128		c.e5+1		TRIM28_ENST00000341753.6_Splice_Site	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28						epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCGCAGCTCGTAAGTGTGGGT	0.594													54	121	---	---	---	---					
TPTEP1	0	broad.mit.edu	37	22	17131536	17131537	+	RNA	INS	-	-	CTG	rs34452519		TCGA-EJ-7312-01B-21D-A32B-08	TCGA-EJ-7312-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	95b6d4db-b129-4065-a0d4-923c41a0d7b7	ae7020ae-a05c-4600-8e4f-566529e96967	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563																											TGCCCACTCTTCTGGTCTCATG	0.540													2	4	---	---	---	---					
